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
UPF3A	65110	broad.mit.edu	37	13	115051788	115051788	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr13:115051788C>T	uc001vup.3	+	3	489	c.433C>T	c.(433-435)Cct>Tct	p.P145S	UPF3A_uc001vuq.3_Intron|UPF3A_uc001vur.3_Non-coding_Transcript|UPF3A_uc001vut.3_5'UTR|UPF3A_uc001vuu.3_5'UTR	NM_023011	NP_075387	Q9H1J1	REN3A_HUMAN	Homo sapiens UPF3 regulator of nonsense transcripts homolog A (yeast) (UPF3A), transcript variant 1, mRNA.	145					mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	RNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		CCTAGAATATCCTGCAGTGGT	0.393000														68			8		0	0	0.003080	0	0
HOXB7	3217	broad.mit.edu	37	17	46685276	46685276	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr17:46685276C>T	uc002inv.3	-	1	685	c.582G>A	c.(580-582)aaG>aaA	p.K194K	HOXB6_uc002ins.1_5'Flank|HOXB6_uc010dbh.1_5'Flank	NM_004502	NP_004493	P09629	HXB7_HUMAN	Homo sapiens homeobox B7 (HOXB7), mRNA.	194				K -> N (in Ref. 7; AAB19469).		nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	8						TCTTGTTCTCCTTTTTCCACT	0.597000														138			24		0	0	0.005443	0	0
CDH13	1012	broad.mit.edu	37	16	83704403	83704403	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr16:83704403C>T	uc010vns.2	+	9	1515	c.1251C>T	c.(1249-1251)gcC>gcT	p.A417A	CDH13_uc002fgx.3_Silent_p.A370A|CDH13_uc010vnt.2_Silent_p.A116A|CDH13_uc010vnu.2_Silent_p.A331A	NM_001220488	NP_001207417	P55290	CAD13_HUMAN	Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA.	370	Cadherin 3.				Rac protein signal transduction|Rho protein signal transduction|adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		AGTTTCAAGCCACAGTCGAGG	0.433000														45			10		0	0	0.000978	0	0
COL7A1	1294	broad.mit.edu	37	3	48622170	48622170	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr3:48622170C>T	uc003ctz.2	-	33	4045	c.4044G>A	c.(4042-4044)gaG>gaA	p.E1348E		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1348	Interrupted collagenous region.|Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CACCTACCGGCTCCCCCTTTG	0.652000														38			7		0	0	0.004482	0	0
TTN	7273	broad.mit.edu	37	2	179428407	179428407	+	Silent	SNP	A	G	G			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr2:179428407A>G	uc021vsy.1	-	274	74973	c.74748T>C	c.(74746-74748)gaT>gaC	p.D24916D	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.D18611D|TTN_uc021vta.1_Silent_p.D18544D|TTN_uc021vtb.1_Silent_p.D18419D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	25843	Fibronectin type-III 81.						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)			CTACCATAGAATCTTTGGTGA	0.493000														158			12		0	0	0.002450	0	0
ATP10B	23120	broad.mit.edu	37	5	160018075	160018075	+	Silent	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr5:160018075G>A	uc003lym.1	-	22	4483	c.3636C>T	c.(3634-3636)atC>atT	p.I1212I	ATP10B_uc010jit.1_Silent_p.I462I	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	1212					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCAGGTAAGGGATAAAGAAAC	0.413000														72			8		0	0	0.004482	0	0
ADAM7	8756	broad.mit.edu	37	8	24300024	24300024	+	Missense_Mutation	SNP	C	T	T	rs137990671		TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr8:24300024C>T	uc003xeb.3	+	1	204	c.91C>T	c.(91-93)Cgt>Tgt	p.R31C	ADAM7_uc003xea.1_Missense_Mutation_p.R31C	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	31					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.R31C(6)		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)		ACAACTGGTTCGTCCTAAAAA	0.403000														188			33		0	0	0.004878	0	0
CNTN5	53942	broad.mit.edu	37	11	99932099	99932099	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr11:99932099C>T	uc001pga.3	+	9	1640	c.1136C>T	c.(1135-1137)tCc>tTc	p.S379F	CNTN5_uc009ywv.2_Missense_Mutation_p.S379F|CNTN5_uc001pfz.3_Missense_Mutation_p.S379F|CNTN5_uc021qpb.1_Missense_Mutation_p.S379F|CNTN5_uc021qpc.1_Missense_Mutation_p.S305F	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	379	Ig-like C2-type 3.				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)		GGAAAAAATTCCTTTCGTGGA	0.408000														45			5		0	0	0.001168	0	0
STXBP4	252983	broad.mit.edu	37	17	53068248	53068248	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr17:53068248G>A	uc002iuf.1	+	3	317	c.110G>A	c.(109-111)gGa>gAa	p.G37E	STXBP4_uc010dcc.1_Intron|STXBP4_uc010dcd.1_Missense_Mutation_p.G37E	NM_178509	NP_848604	Q6ZWJ1	STXB4_HUMAN	Homo sapiens syntaxin binding protein 4 (STXBP4), mRNA.	37	PDZ.					cytoplasm	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						AAGGTACTAGGAGGAATTAAC	0.408000														119			16		0	0	0.006122	0	0
ADNP2	22850	broad.mit.edu	37	18	77895753	77895753	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr18:77895753C>T	uc002lnw.3	+	3	2912	c.2457C>T	c.(2455-2457)ctC>ctT	p.L819L		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	Homo sapiens ADNP homeobox 2 (ADNP2), mRNA.	819					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		GCAACCTGCTCTTTCCCCACC	0.493000														72			19		0	0	0.006122	0	0
CFTR	1080	broad.mit.edu	37	7	117246731	117246731	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr7:117246731G>A	uc003vjd.3	+	17	3044	c.2912G>A	c.(2911-2913)gGg>gAg	p.G971E	CFTR_uc011knq.2_Missense_Mutation_p.G377E	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	971	ABC transmembrane type-1 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	ATTATAGGTGGGATTCTTAAT	0.299000									Cystic Fibrosis					113			16		0	0	0.003163	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140308858	140308858	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr5:140308858C>T	uc003lih.2	+	0	2557	c.2381C>T	c.(2380-2382)tCc>tTc	p.S794F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Missense_Mutation_p.S794F	NM_018898	NP_061721	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA.	842					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGCCAATATCCTGTATTCAG	0.463000														62			19		0	0	0.007413	0	0
BPTF	2186	broad.mit.edu	37	17	65941951	65941951	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr17:65941951C>T	uc002jgf.3	+	20	7188	c.7127C>T	c.(7126-7128)cCa>cTa	p.P2376L	BPTF_uc002jge.3_Missense_Mutation_p.P2502L|BPTF_uc021uca.1_Missense_Mutation_p.P176L|BPTF_uc002jgg.3_Missense_Mutation_p.P176L|BPTF_uc002jgh.3_5'Flank	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	2502					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CAACCGATTCCAATTCAACCA	0.473000														70			8		0	0	0.003080	0	0
ZC3H12C	85463	broad.mit.edu	37	11	110035489	110035489	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr11:110035489C>T	uc010rwc.2	+	5	1682	c.1682C>T	c.(1681-1683)cCt>cTt	p.P561L	ZC3H12C_uc009yxw.3_Missense_Mutation_p.P560L|ZC3H12C_uc010rwd.2_Missense_Mutation_p.P561L|ZC3H12C_uc001pkr.4_Missense_Mutation_p.P529L	NM_033390	NP_203748	Q9C0D7	ZC12C_HUMAN	Homo sapiens zinc finger CCCH-type containing 12C (ZC3H12C), mRNA.	560							endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		GGACAATATCCTTCAATGATG	0.428000														79			11		0	0	0.000978	0	0
OR5M9	390162	broad.mit.edu	37	11	56230065	56230065	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr11:56230065C>T	uc010rjj.2	-	0	813	c.813G>A	c.(811-813)atG>atA	p.M271I	OR8U8_uc001nit.2_Intron	NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 9 (OR5M9), mRNA.	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					ACACAGCCACCATTTTGCCCT	0.453000														54			17		0	0	0.006122	0	0
MARCH10	162333	broad.mit.edu	37	17	60813770	60813770	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr17:60813770C>T	uc010dds.3	-	6	1858	c.1573G>A	c.(1573-1575)Gta>Ata	p.V525I	MARCH10_uc010ddr.3_Missense_Mutation_p.V487I|MARCH10_uc002jag.4_Missense_Mutation_p.V487I|MARCH10_uc002jah.2_Missense_Mutation_p.V486I|BC037347_uc002jaj.1_Non-coding_Transcript|BC037347_uc002jak.3_Non-coding_Transcript	NM_152598	NP_689811	Q8NA82	MARHA_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 10 (MARCH10), transcript variant 1, mRNA.	487							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GACAAGTCTACTGGAATATCA	0.428000														71			9		0	0	0.004482	0	0
ANP32C	23520	broad.mit.edu	37	4	165118761	165118761	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr4:165118761C>T	uc011cjk.2	-	0	103	c.103G>A	c.(103-105)Gaa>Aaa	p.E35K	MARCH1_uc003iqs.2_Intron	NM_012403	NP_036535	O43423	AN32C_HUMAN	Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member C (ANP32C), mRNA.	35										NS(2)|breast(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(3)|skin(4)	35	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)		KIRC - Kidney renal clear cell carcinoma(143;0.242)		GTGAGGGCTTCGAGTTTGCCT	0.473000														120			21		0	0	0.003330	0	0
NOL4	8715	broad.mit.edu	37	18	31538324	31538324	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr18:31538324C>T	uc010dmi.3	-	6	1413	c.1115G>A	c.(1114-1116)gGa>gAa	p.G372E	NOL4_uc010xbs.2_Missense_Mutation_p.G87E|NOL4_uc002kxr.4_Missense_Mutation_p.G208E|NOL4_uc010xbt.2_Missense_Mutation_p.G298E|NOL4_uc010dmh.3_Missense_Mutation_p.G298E|NOL4_uc010xbu.2_Missense_Mutation_p.G372E|NOL4_uc002kxt.4_Missense_Mutation_p.G372E|NOL4_uc010xbv.1_Missense_Mutation_p.G121E	NM_003787	NP_001185478	O94818	NOL4_HUMAN	Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA.	372						nucleolus	RNA binding	p.G372A(2)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						GTCCTCAGCTCCTCGGTCTAC	0.463000														135			34		0	0	0.005524	0	0
C1orf87	127795	broad.mit.edu	37	1	60463302	60463303	+	Silent	DNP	GG	AA	AA			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr1:60463302_60463303GG>AA	uc001czs.2	-	10	1566_1567	c.1458_1459CC>TT	c.(1456-1461)tacctg>taTTtg	p.486_487YL>YL	C1orf87_uc001czr.1_Silent_p.78_79YL>YL	NM_152377	NP_689590	Q8N0U7	CA087_HUMAN	Homo sapiens chromosome 1 open reading frame 87 (C1orf87), mRNA.	486							calcium ion binding	p.L487L(2)		breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						AGATCACACAGGTAGAGGGCAT	0.465000														53			9		0	0	0.004672	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870105	51870105	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr20:51870105C>T	uc002xwo.3	+	1	995	c.108C>T	c.(106-108)agC>agT	p.S36S	TSHZ2_uc021wex.1_Silent_p.S33S	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	36					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S36S(2)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			aggaggaCAGCGGTTCAGTAG	0.527000														34			26		0	0	0.003330	0	0
GMCL1P1	64396	broad.mit.edu	37	5	177612973	177612973	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr5:177612973G>A	uc003mit.1	-	0	1461	c.1328C>T	c.(1327-1329)tCt>tTt	p.S443F						Homo sapiens germ cell-less homolog 1 (Drosophila) pseudogene 1 (GMCL1P1), non-coding RNA.																		TAAACTGACAGACCCGCTGCG	0.418000														25			5		0	0	0.000602	0	0
SORD	6652	broad.mit.edu	37	15	45353277	45353277	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr15:45353277C>T	uc001zul.4	+	3	458	c.278C>T	c.(277-279)gCc>gTc	p.A93V	SORD_uc010uel.2_Intron|SORD_uc010bdz.3_Missense_Mutation_p.A14V	NM_003104	NP_003095	Q00796	DHSO_HUMAN	Homo sapiens sorbitol dehydrogenase (SORD), transcript variant 1, mRNA.	93					L-xylitol catabolic process|fructose biosynthetic process|glucose metabolic process|sorbitol catabolic process|sperm motility	cilium|extracellular space|flagellum|membrane fraction|mitochondrial membrane|soluble fraction	L-iditol 2-dehydrogenase activity|NAD binding|sugar binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(4)	9		all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122)		all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706)	NADH(DB00157)	GATCGTGTTGCCATCGAGCCT	0.532000														35			15		0	0	0.004007	0	0
DDX3X	1654	broad.mit.edu	37	X	41205505	41205505	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chrX:41205505T>C	uc004dfe.3	+	12	2194	c.1339T>C	c.(1339-1341)Ttt>Ctt	p.F447L	DDX3X_uc011mks.2_Intron|DDX3X_uc004dff.3_Missense_Mutation_p.F447L|DDX3X_uc011mkq.2_Missense_Mutation_p.F431L|DDX3X_uc011mkr.2_Intron|DDX3X_uc004dfg.3_Non-coding_Transcript|DDX3X_uc011mkt.1_Non-coding_Transcript	NM_001356	NP_001347	O00571	DDX3X_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked (DDX3X), transcript variant 1, mRNA.	447	Helicase C-terminal.|Necessary for interaction with XPO1.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|protein binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						GACCTTAGTGTTTGTGGAGAC	0.408000										HNSCC(61;0.18)				29			9		0	0	0.004482	0	0
STAG3	10734	broad.mit.edu	37	7	99801718	99801718	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr7:99801718C>T	uc003utx.1	+	25	2930	c.2775C>T	c.(2773-2775)tcC>tcT	p.S925S	STAG3_uc011kjk.1_Silent_p.S867S|GATS_uc010lgt.3_Intron|GATS_uc003uty.4_Intron|GATS_uc003utz.4_Intron|GATS_uc003uua.4_Intron|STAG3_uc003uub.1_Silent_p.S149S	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	Homo sapiens stromal antigen 3 (STAG3), mRNA.	925					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTCATTGTTCCCGAATCCTGC	0.507000														47			10		0	0	0.000978	0	0
BCL9	607	broad.mit.edu	37	1	147090735	147090735	+	Silent	SNP	A	C	C			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr1:147090735A>C	uc001epq.3	+	7	1514	c.774A>C	c.(772-774)ccA>ccC	p.P258P	BCL9_uc010ozr.1_Silent_p.P184P	NM_004326	NP_004317	O00512	BCL9_HUMAN	Homo sapiens B-cell CLL/lymphoma 9 (BCL9), mRNA.	258	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					AGCCAACTCCACCCATTCCGG	0.592000			T	"""IGH@, IGL@"""	B-ALL									85			13		0	0	0.003330	0	0
LAMB3	3914	broad.mit.edu	37	1	209788682	209788682	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr1:209788682C>T	uc001hhg.3	-	21	3843	c.3453G>A	c.(3451-3453)gaG>gaA	p.E1151E	LAMB3_uc009xco.3_Silent_p.E1151E|LAMB3_uc001hhh.3_Silent_p.E1151E	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	1151	Domain I.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CCACACGCTTCTCCAGTCCTG	0.597000														93			5		0	0	0.001984	0	0
RGS7	6000	broad.mit.edu	37	1	241262021	241262021	+	Silent	SNP	T	C	C			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr1:241262021T>C	uc001hyv.2	-	2	450	c.120A>G	c.(118-120)ggA>ggG	p.G40G	RGS7_uc010pyh.2_Silent_p.G14G|RGS7_uc010pyj.1_5'UTR|RGS7_uc001hyu.2_Silent_p.G40G|RGS7_uc009xgn.1_Silent_p.G40G|RGS7_uc001hyw.2_Silent_p.G40G	NM_002924	NP_002915	P49802	RGS7_HUMAN	Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA.	40	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			GAATAGGAATTCCATTTTTTT	0.348000														28			18		0	0	0.001882	0	0
STT3A	3703	broad.mit.edu	37	11	125466960	125466960	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr11:125466960C>A	uc001qcd.2	+	2	205	c.95C>A	c.(94-96)tCc>tAc	p.S32Y	STT3A_uc009zbm.2_Missense_Mutation_p.S32Y|STT3A_uc001qce.2_Missense_Mutation_p.S32Y|STT3A_uc010sbg.1_5'UTR	NM_152713	NP_689926	P46977	STT3A_HUMAN	Homo sapiens STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae) (STT3A), mRNA.	32					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		GCAGCCTTCTCCACTCGTCTG	0.378000														95			17		1.01871e-10	1.48641e-10	0.008871	1	0
SULF1	23213	broad.mit.edu	37	8	70513989	70513990	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr8:70513989_70513990GG>AA	uc003xyg.2	+	8	1547_1548	c.986_987GG>AA	c.(985-987)ggg>gAA	p.G329E	SULF1_uc010lza.1_Missense_Mutation_p.G329E|SULF1_uc003xyd.2_Missense_Mutation_p.G329E|SULF1_uc003xye.2_Missense_Mutation_p.G329E|SULF1_uc003xyf.2_Missense_Mutation_p.G329E|SULF1_uc003xyh.1_Non-coding_Transcript	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.	329					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CTGGTCAAGGGGAAATCCATGC	0.441000														107			14		0	0	0.004672	0	0
CYP4F11	57834	broad.mit.edu	37	19	16034682	16034682	+	Silent	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr19:16034682G>A	uc002nbu.2	-	6	894	c.858C>T	c.(856-858)ttC>ttT	p.F286F	CYP4F11_uc010eab.1_Silent_p.F286F|CYP4F11_uc002nbt.2_Silent_p.F286F	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	286					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	p.F286S(1)		NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						TGTTCTTGAGGAAATCATCAA	0.532000														88			9		0	0	0.004482	0	0
GP5	2814	broad.mit.edu	37	3	194118241	194118241	+	Silent	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr3:194118241G>A	uc003ftv.1	-	1	802	c.771C>T	c.(769-771)ctC>ctT	p.L257L	GP5_uc021xiz.1_Silent_p.L257L	NM_004488	NP_004479	P40197	GPV_HUMAN	Homo sapiens glycoprotein V (platelet) (GP5), mRNA.	257					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		GCGCAGAGGGGAGAAACGCAA	0.577000														77			10		0	0	0.008291	0	0
SLC8A1	6546	broad.mit.edu	37	2	40657096	40657096	+	Nonsense_Mutation	SNP	G	A	A	rs78410508		TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr2:40657096G>A	uc002rrx.3	-	0	349	c.325C>T	c.(325-327)Caa>Taa	p.Q109*	SLC8A1_uc002rry.3_Nonsense_Mutation_p.Q109*|SLC8A1_uc002rsb.2_Nonsense_Mutation_p.Q109*|SLC8A1_uc002rrz.3_Nonsense_Mutation_p.Q109*|SLC8A1_uc002rsa.3_Nonsense_Mutation_p.Q109*|SLC8A1_uc002rsd.4_Nonsense_Mutation_p.Q109*|SLC8A1_uc010fan.1_Nonsense_Mutation_p.Q109*|SLC8A1_uc002rsc.1_Nonsense_Mutation_p.Q109*	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	109					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TCTTTTTCTTGAGATGTGATG	0.418000														106			24		0	0	0.003330	0	0
CYP2B6	1555	broad.mit.edu	37	19	41522589	41522589	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr19:41522589G>A	uc002opr.1	+	8	1340	c.1333G>A	c.(1333-1335)Gaa>Aaa	p.E445K	CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Missense_Mutation_p.E245K	NM_000767	NP_000758	P20813	CP2B6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA.	445					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.A444E(2)|p.A444A(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	CGCCCGTGCGGAATTGTTCCT	0.582000														23			4		0	0	0.000248	0	0
SPHKAP	80309	broad.mit.edu	37	2	228886515	228886515	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr2:228886515C>T	uc002vpq.2	-	5	656	c.609G>A	c.(607-609)acG>acA	p.T203T	SPHKAP_uc002vpp.2_Silent_p.T203T|SPHKAP_uc010zlx.1_Silent_p.T203T	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	203						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AGGAACAGTTCGTGTCATCCT	0.463000														67			22		0	0	0.001882	0	0
PKD1	5310	broad.mit.edu	37	16	2159767	2159767	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr16:2159767G>A	uc002cos.1	-	14	5610	c.5401C>T	c.(5401-5403)Cct>Tct	p.P1801S	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Missense_Mutation_p.P1801S	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	1801	PKD 13.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCACTCACAGGCACCTGCACA	0.677000														12			4		0	0	0.000248	0	0
RHBDD2	57414	broad.mit.edu	37	7	75517552	75517552	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr7:75517552C>T	uc003udw.1	+	3	1064	c.980C>T	c.(979-981)tCc>tTc	p.S327F	RHBDD2_uc003udv.1_Missense_Mutation_p.S186F	NM_001040456	NP_001035547	Q6NTF9	RHBD2_HUMAN	Homo sapiens rhomboid domain containing 2 (RHBDD2), transcript variant 1, mRNA.	327						integral to membrane	serine-type endopeptidase activity			kidney(1)|lung(4)|prostate(1)	6						GCGGGCACCTCCCTGGGCATC	0.647000														114			20		0	0	0.001882	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140736328	140736328	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr5:140736328G>A	uc003ljq.2	+	0	1561	c.1561G>A	c.(1561-1563)Gac>Aac	p.D521N	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljp.1_Missense_Mutation_p.D521N	NM_018917	NP_061740	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA.	523	Cadherin 5.				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)			TTGCTCCTTCGACTATGAGCA	0.527000														130			22		0	0	0.001523	0	0
MECOM	2122	broad.mit.edu	37	3	168834234	168834234	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr3:168834234G>A	uc011bpj.1	-	7	1829	c.1426C>T	c.(1426-1428)Cct>Tct	p.P476S	MECOM_uc010hwk.1_Missense_Mutation_p.P311S|MECOM_uc003ffj.3_Missense_Mutation_p.P353S|MECOM_uc003ffi.3_Missense_Mutation_p.P288S|MECOM_uc011bpi.1_Missense_Mutation_p.P289S|MECOM_uc003ffn.3_Missense_Mutation_p.P288S|MECOM_uc003ffk.2_Missense_Mutation_p.P288S|MECOM_uc003ffl.2_Missense_Mutation_p.P448S|MECOM_uc011bpk.1_Missense_Mutation_p.P288S|MECOM_uc010hwn.2_Missense_Mutation_p.P476S	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						AGACCAGCAGGATGCCTATTG	0.493000														50			8		0	0	0.004482	0	0
IL5	3567	broad.mit.edu	37	5	131877805	131877805	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr5:131877805C>T	uc003kxe.1	-	2	252	c.208G>A	c.(208-210)Gga>Aga	p.G70R		NM_000879	NP_000870	P05113	IL5_HUMAN	Homo sapiens interleukin 5 (colony-stimulating factor, eosinophil) (IL5), mRNA.	70					immune response|inflammatory response|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of podosome assembly	extracellular space	cytokine activity|growth factor activity|interleukin-5 receptor binding			endometrium(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	4		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Pranlukast(DB01411)	GTGCCTATTCCCTGAAAGATT	0.363000														52			4		0	0	0.000248	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64511193	64511193	+	Silent	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr5:64511193G>A	uc003jtp.3	-	18	3208	c.2394C>T	c.(2392-2394)tcC>tcT	p.S798S	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_Silent_p.S419S	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	798	Spacer.				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)		GAGCTTCCAAGGATTCTGGTT	0.413000														57			10		0	0	0.001368	0	0
SRSF9	8683	broad.mit.edu	37	12	120907337	120907337	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr12:120907337G>A	uc001tyi.3	-	0	222	c.76C>T	c.(76-78)Cgc>Tgc	p.R26C	SRSF9_uc009zwy.2_Missense_Mutation_p.R26C|DYNLL1_uc001tyj.3_5'Flank	NM_003769	NP_003760	Q13242	SRSF9_HUMAN	Homo sapiens serine/arginine-rich splicing factor 9 (SRSF9), mRNA.	26	RRM 1.				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	RNA binding|nucleotide binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	9						TCCTTCTCGCGCACGTCGGTC	0.701000														30			4		0	0	0.000248	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47246256	47246256	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr17:47246256C>T	uc002ion.2	+	9	1548	c.1489C>T	c.(1489-1491)Cac>Tac	p.H497Y	B4GALNT2_uc010wlt.1_Missense_Mutation_p.H411Y|B4GALNT2_uc010wlu.1_Missense_Mutation_p.H437Y	NM_153446	NP_001152860	Q8NHY0	B4GN2_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 2 (B4GALNT2), transcript variant 1, mRNA.	497					UDP-N-acetylgalactosamine metabolic process|lipid glycosylation|negative regulation of cell-cell adhesion	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			ACGAGTGGCTCACTCAGGTGG	0.587000														21			5		0	0	0.001168	0	0
GRAMD1B	57476	broad.mit.edu	37	11	123471201	123471201	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr11:123471201G>A	uc001pyw.2	+	7	916	c.587G>A	c.(586-588)cGg>cAg	p.R196Q	GRAMD1B_uc001pyx.2_Missense_Mutation_p.R189Q|GRAMD1B_uc010rzw.2_Missense_Mutation_p.R149Q|GRAMD1B_uc010rzx.1_Missense_Mutation_p.R149Q|GRAMD1B_uc009zbe.1_Missense_Mutation_p.R185Q	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN	Homo sapiens GRAM domain containing 1B (GRAMD1B), mRNA.	189						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		TTTGGGGCCCGGGATAGGACA	0.428000														30			6		0	0	0.001984	0	0
C6	729	broad.mit.edu	37	5	41159246	41159246	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr5:41159246C>T	uc003jmk.2	-	11	2004	c.1794G>A	c.(1792-1794)ggG>ggA	p.G598G	C6_uc003jml.1_Silent_p.G598G	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	598	TSP type-1 3.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CACAGCGTTTCCCTCCTCGTT	0.498000														105			22		0	0	0.001882	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151121946	151121946	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr6:151121946C>T	uc011eem.1	+	5	986	c.898C>T	c.(898-900)Ctg>Ttg	p.L300L	PLEKHG1_uc011eel.1_Silent_p.L281L|PLEKHG1_uc003qny.1_Silent_p.L241L|PLEKHG1_uc003qnz.2_Silent_p.L241L	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA.	241					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		CTCGCTGCCTCTGGGGTCCTA	0.502000														63			9		0	0	0.008291	0	0
abParts	0	broad.mit.edu	37	14	106791273	106791273	+	RNA	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr14:106791273C>T	uc021ser.1	-	619		c.17119G>A								Parts of antibodies, mostly variable regions.																		GACCACGCCTCCCCCAGACTC	0.562000														112			7		0	0	0.003080	0	0
SLAIN1	122060	broad.mit.edu	37	13	78337309	78337309	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr13:78337309C>T	uc010thy.1	+	6	1278	c.1235C>T	c.(1234-1236)tCa>tTa	p.S412L	SLAIN1_uc001vkk.2_Missense_Mutation_p.S335L|SLAIN1_uc010thz.1_Missense_Mutation_p.S290L|SLAIN1_uc001vkl.1_Missense_Mutation_p.S291L|SLAIN1_uc010aex.1_Missense_Mutation_p.S177L|SLAIN1_uc010aey.1_Missense_Mutation_p.S177L|SLAIN1_uc001vkm.2_Missense_Mutation_p.S291L	NM_001040153	NP_653196	Q8ND83	SLAI1_HUMAN	Homo sapiens SLAIN motif family, member 1 (SLAIN1), transcript variant 1, mRNA.	554										breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		CCTCTGTCTTCACTCAGCACT	0.393000														58			8		0	0	0.004482	0	0
ANKRD32	84250	broad.mit.edu	37	5	94030836	94030836	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr5:94030836C>A	uc003kkr.4	+	20	3076	c.2996C>A	c.(2995-2997)aCc>aAc	p.T999N	ANKRD32_uc003kks.3_Missense_Mutation_p.T363N	NM_032290	NP_115666	Q9BQI6	ANR32_HUMAN	Homo sapiens ankyrin repeat domain 32 (ANKRD32), mRNA.	999										NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		CATAAAGAAACCACCAGTGTT	0.348000														45			10		4.36969e-10	6.34049e-10	0.001855	1	0
GNA14	9630	broad.mit.edu	37	9	80049306	80049306	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr9:80049306G>C	uc004aku.3	-	2	965	c.442C>G	c.(442-444)Cag>Gag	p.Q148E		NM_004297	NP_004288	O95837	GNA14_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha 14 (GNA14), mRNA.	148					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by dopamine receptor signaling pathway|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						TCCGACAGCTGGTACTCCCTC	0.587000											OREG0019263	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		40			8		0	0	0.004482	0	0
ZNF568	374900	broad.mit.edu	37	19	37441924	37441924	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr19:37441924C>T	uc002ofc.3	+	6	2387	c.1869C>T	c.(1867-1869)ttC>ttT	p.F623F	ZNF568_uc010efg.3_Intron|ZNF568_uc010xtn.2_Intron|ZNF568_uc021uts.1_Silent_p.F622F|ZNF568_uc002ofd.3_Silent_p.F559F|ZNF568_uc010efe.3_Silent_p.F559F|ZNF568_uc010eff.2_Intron	NM_198539	NP_001191766	Q3ZCX4	ZN568_HUMAN	Homo sapiens zinc finger protein 568 (ZNF568), transcript variant 1, mRNA.	623					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGAAAGCATTCTCTCAAAGAG	0.368000														88			14		0	0	0.001855	0	0
ATP2B2	491	broad.mit.edu	37	3	10452305	10452305	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr3:10452305C>T	uc003bvt.3	-	2	833	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K	ATP2B2_uc003bvv.3_Missense_Mutation_p.E132K|ATP2B2_uc003bvw.3_Missense_Mutation_p.E132K|ATP2B2_uc010hdp.2_Missense_Mutation_p.E132K|ATP2B2_uc010hdo.3_5'UTR	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	132					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						ATCTTACCTTCGTTGCCCTCG	0.647000														123			18		0	0	0.002780	0	0
PDZD2	23037	broad.mit.edu	37	5	31799548	31799549	+	Missense_Mutation	DNP	GA	AC	AC			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr5:31799548_31799549GA>AC	uc003jhl.3	+	1	581_582	c.193_194GA>AC	c.(193-195)gaa>ACa	p.E65T	PDZD2_uc003jhm.3_Missense_Mutation_p.E65T	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	65					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		p.E65fs*34(1)|p.E65fs*21(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CAGCCCCCCCGAAATGGAGATC	0.569000														112			22		0	0	0.004672	0	0
FBXO16	157574	broad.mit.edu	37	8	28309982	28309982	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr8:28309982C>T	uc003xgu.3	-	5	617	c.519G>A	c.(517-519)aaG>aaA	p.K173K	ZNF395_uc003xgt.3_5'UTR|FBXO16_uc003xgv.3_Silent_p.K160K	NM_172366	NP_758954	Q8IX29	FBX16_HUMAN	Homo sapiens F-box protein 16 (FBXO16), mRNA.	173										large_intestine(2)|ovary(1)	3		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)		CAAATCCATCCTTTGGGGGTG	0.443000														52			11		0	0	0.001368	0	0
SAMD3	154075	broad.mit.edu	37	6	130465686	130465686	+	Silent	SNP	T	C	C			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr6:130465686T>C	uc003qbw.3	-	11	1870	c.1542A>G	c.(1540-1542)ggA>ggG	p.G514G	SAMD3_uc003qbx.3_Silent_p.G514G	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN	Homo sapiens sterile alpha motif domain containing 3 (SAMD3), transcript variant 1, mRNA.	514										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		GGTGCTGAAATCCTACTTCGT	0.368000														35			5		0	0	0.001984	0	0
ANG	283	broad.mit.edu	37	14	21162162	21162162	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr14:21162162C>T	uc021rok.1	+	0	439	c.439C>T	c.(439-441)Ccg>Tcg	p.P147S	ANG_uc001vxw.4_Missense_Mutation_p.P147S|RNASE4_uc001vxy.4_Intron|RNASE4_uc001vxx.4_Intron|ANG_uc001vxz.3_Missense_Mutation_p.P147S|RNASE4_uc001vya.3_Intron	NM_001145	NP_001136	P03950	ANGI_HUMAN	Homo sapiens angiogenin, ribonuclease, RNase A family, 5 (ANG), transcript variant 1, mRNA.	147					actin filament polymerization|activation of phospholipase A2 activity|activation of phospholipase C activity|activation of protein kinase B activity|angiogenesis|cell communication|cell death|cell migration|diacylglycerol biosynthetic process|homeostatic process|negative regulation of smooth muscle cell proliferation|negative regulation of translation|oocyte maturation|ovarian follicle development|placenta development|positive regulation of endothelial cell proliferation|positive regulation of phosphorylation|positive regulation of protein secretion|rRNA transcription|response to hormone stimulus|response to hypoxia	angiogenin-PRI complex|basal lamina|extracellular space|growth cone|neuronal cell body|nucleolus	actin binding|copper ion binding|heparin binding|pancreatic ribonuclease activity|peptide binding|rRNA binding|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)	5	all_cancers(95;0.00387)	all_cancers(140;0.196)|all_epithelial(140;0.156)	Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	OV - Ovarian serous cystadenocarcinoma(311;3.25e-17)|GBM - Glioblastoma multiforme(265;5.56e-07)		TTTCCGTCGTCCGTAACCAGC	0.552000														82			8		0	0	0.004482	0	0
SORL1	6653	broad.mit.edu	37	11	121393405	121393405	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr11:121393405C>T	uc001pxx.3	+	9	1644	c.1515C>T	c.(1513-1515)atC>atT	p.I505I		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	505					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GCCTCATCATCGCCACTGGTA	0.577000														133			31		0	0	0.002836	0	0
TPSD1	23430	broad.mit.edu	37	16	1308203	1308203	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr16:1308203G>A	uc002clb.1	+	3	673	c.664G>A	c.(664-666)Gaa>Aaa	p.E222K	TPSD1_uc010brm.1_Missense_Mutation_p.E151K	NM_012217	NP_036349	Q9BZJ3	TRYD_HUMAN	Homo sapiens tryptase delta 1 (TPSD1), mRNA.	222	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				TGCGGGGAGCGAAAATCACGA	0.632000														27			5		0	0	0.001168	0	0
ZFPM2	23414	broad.mit.edu	37	8	106573624	106573624	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr8:106573624G>A	uc003ymd.3	+	3	358	c.335G>A	c.(334-336)cGa>cAa	p.R112Q		NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	112					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.R112Q(2)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GATGGGGAACGAAAAATTCAG	0.438000														41			4		0	0	0.000602	0	0
RASGRP4	115727	broad.mit.edu	37	19	38910555	38910555	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr19:38910555C>T	uc021uub.1	-	5	822	c.608G>A	c.(607-609)gGg>gAg	p.G203E	RASGRP4_uc010efz.2_Non-coding_Transcript|RASGRP4_uc010ega.2_Non-coding_Transcript|RASGRP4_uc021utz.1_Missense_Mutation_p.G203E|RASGRP4_uc021uua.1_Missense_Mutation_p.G203E|RASGRP4_uc021uuc.1_Missense_Mutation_p.G203E|RASGRP4_uc021uud.1_Missense_Mutation_p.G203E|RASGRP4_uc021uue.1_Missense_Mutation_p.G203E|RASGRP4_uc021uuf.1_Missense_Mutation_p.G189E	NM_170604	NP_733749	Q8TDF6	GRP4_HUMAN	Homo sapiens RAS guanyl releasing protein 4 (RASGRP4), transcript variant a, mRNA.	203	Ras-GEF.				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	GTP-dependent protein binding|Ras guanyl-nucleotide exchange factor activity|diacylglycerol binding|metal ion binding	p.T202M(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGCCAGCTCCCCCGTCTCCAA	0.642000														19			3		0	0	0.004672	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54912728	54912728	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr12:54912728G>A	uc001sgc.4	+	14	1530	c.1451G>A	c.(1450-1452)gGa>gAa	p.G484E	NCKAP1L_uc010sox.2_Missense_Mutation_p.G26E|NCKAP1L_uc010soy.2_Missense_Mutation_p.G434E	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	484					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	p.S483L(1)		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						GAATTCTCAGGATTGAGGCTG	0.388000														37			7		0	0	0.004482	0	0
C1QTNF9	338872	broad.mit.edu	37	13	24892988	24892988	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr13:24892988G>A	uc001upj.3	+	2	260	c.199G>A	c.(199-201)Gat>Aat	p.D67N	SPATA13_uc001upe.3_Non-coding_Transcript	NM_178540	NP_848635	P0C862	C1T9A_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 9 (C1QTNF9), mRNA.	67	Collagen-like 1.					collagen	hormone activity			endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		CCCGGGGAAGGATGGGACGAG	0.463000														125			13		0	0	0.003163	0	0
COL1A1	1277	broad.mit.edu	37	17	48265253	48265253	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr17:48265253C>T	uc002iqm.3	-	44	3479	c.3353G>A	c.(3352-3354)gGt>gAt	p.G1118D		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	1118	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	GCCAGGGGGACCCTGGAGGCC	0.632000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							69			10		0	0	0.006214	0	0
FREM2	341640	broad.mit.edu	37	13	39425951	39425951	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr13:39425951C>T	uc001uwv.3	+	10	7180	c.6871C>T	c.(6871-6873)Cac>Tac	p.H2291Y	FREM2_uc001uww.3_Missense_Mutation_p.H377Y	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	2291	Calx-beta 5.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGTGAGAGTCCACACCAAGGA	0.512000														46			6		0	0	0.001168	0	0
AKAP9	10142	broad.mit.edu	37	7	91630961	91630961	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr7:91630961C>T	uc003ulg.3	+	7	1955	c.1730C>T	c.(1729-1731)tCt>tTt	p.S577F	AKAP9_uc003ule.2_Missense_Mutation_p.S589F|AKAP9_uc003ulf.3_Missense_Mutation_p.S577F|AKAP9_uc003uli.3_Missense_Mutation_p.S202F	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	589	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GAGATTGTTTCTGCATCTGAA	0.333000			T	BRAF	papillary thyroid									75			12		0	0	0.001368	0	0
PPFIA2	8499	broad.mit.edu	37	12	81688660	81688660	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr12:81688660T>C	uc001szo.2	-	23	3040	c.2879A>G	c.(2878-2880)gAg>gGg	p.E960G	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Missense_Mutation_p.E886G|PPFIA2_uc021rbh.1_Missense_Mutation_p.E861G|PPFIA2_uc021rbi.1_Missense_Mutation_p.E960G|PPFIA2_uc021rbj.1_Missense_Mutation_p.E960G|PPFIA2_uc021rbk.1_Missense_Mutation_p.E945G|PPFIA2_uc021rbl.1_Missense_Mutation_p.E960G|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Missense_Mutation_p.E527G|PPFIA2_uc021rbf.1_Missense_Mutation_p.E177G	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.	886										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						GGAAACCATCTCCTGGATTGC	0.473000														26			3		0	0	0.004672	0	0
ZC3H4	23211	broad.mit.edu	37	19	47593230	47593230	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr19:47593230C>T	uc002pga.4	-	4	747	c.709G>A	c.(709-711)Ggc>Agc	p.G237S	ZC3H4_uc002pgb.1_Non-coding_Transcript	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	Homo sapiens zinc finger CCCH-type containing 4 (ZC3H4), mRNA.	237	Gly-rich.						nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TCACCTCGGCCGCGGCTGCTG	0.622000														34			7		0	0	0.003080	0	0
SCN5A	6331	broad.mit.edu	37	3	38603922	38603922	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr3:38603922C>T	uc021wvo.1	-	20	3999	c.3947G>A	c.(3946-3948)cGa>cAa	p.R1316Q	SCN5A_uc021wvk.1_Missense_Mutation_p.R1315Q|SCN5A_uc021wvl.1_Missense_Mutation_p.R1262Q|SCN5A_uc021wvm.1_Missense_Mutation_p.R1316Q|SCN5A_uc021wvn.1_Missense_Mutation_p.R1315Q|SCN5A_uc021wvp.1_Missense_Mutation_p.R1316Q|SCN5A_uc021wvq.1_Missense_Mutation_p.R1315Q|SCN5A_uc021wvr.1_Missense_Mutation_p.R1316Q|SCN5A_uc021wvs.1_Missense_Mutation_p.R1316Q|SCN5A_uc021wvt.1_Missense_Mutation_p.R1315Q|SCN5A_uc021wvu.1_Missense_Mutation_p.R1262Q|SCN5A_uc021wvv.1_Missense_Mutation_p.R1316Q|SCN5A_uc021wvj.1_Missense_Mutation_p.R1128Q|SCN5A_uc021wvi.1_Missense_Mutation_p.R1182Q|SCN5A_uc021wvw.1_Missense_Mutation_p.R926Q	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1316					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GCCCTCAAATCGTGACAGAGC	0.652000														20			6		0	0	0.001984	0	0
SERPINA7	6906	broad.mit.edu	37	X	105280482	105280482	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chrX:105280482G>A	uc010npd.3	-	0	803	c.568C>T	c.(568-570)Caa>Taa	p.Q190*	SERPINA7_uc004eme.2_Nonsense_Mutation_p.Q190*|SERPINA7_uc010npe.2_Nonsense_Mutation_p.Q190*	NM_000354	NP_000345	P05543	THBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 (SERPINA7), mRNA.	190					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	TTGAGGTCTTGAATTAGACCC	0.408000														68			30		0	0	0.006320	0	0
ANKRD20A2	441430	broad.mit.edu	37	2	95481296	95481296	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr2:95481296G>A	uc010fhq.2	-	1	1084	c.692C>T	c.(691-693)tCc>tTc	p.S231F	ANKRD20A2_uc010fhp.3_Non-coding_Transcript	NM_001012421	NP_001012421	Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A2 (ANKRD20A2), mRNA.	651										large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						TTTTACTTTGGAAATAGCAGA	0.323000														73			17		0	0	0.002299	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558546	140558546	+	Missense_Mutation	SNP	G	A	A	rs148140727		TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr5:140558546G>A	uc011dai.2	+	0	1176	c.931G>A	c.(931-933)Gaa>Aaa	p.E311K	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	311	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E311K(4)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTTGATTTCGAAAAATTTCA	0.383000														78			4		0	0	0.000248	0	0
DNAH5	1767	broad.mit.edu	37	5	13901591	13901591	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr5:13901591T>C	uc003jfd.2	-	13	1864	c.1822A>G	c.(1822-1824)Aca>Gca	p.T608A		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	608	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTCTGCTTTGTATACAGCTTT	0.423000									Kartagener syndrome					33			5		0	0	0.001168	0	0
GTPBP4	23560	broad.mit.edu	37	10	1052982	1052982	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr10:1052982C>T	uc001ift.3	+	9	1098	c.1027C>T	c.(1027-1029)Cga>Tga	p.R343*	GTPBP4_uc010qac.1_Nonsense_Mutation_p.R134*|GTPBP4_uc010qad.2_Nonsense_Mutation_p.R227*|GTPBP4_uc010qae.2_Nonsense_Mutation_p.R296*	NM_012341	NP_036473	Q9BZE4	NOG1_HUMAN	Homo sapiens GTP binding protein 4 (GTPBP4), mRNA.	343					negative regulation of DNA replication|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		TTTGGCTCATCGAGTGGAAAC	0.502000														53			5		0	0	0.001168	0	0
BV13S6J2.1	0	broad.mit.edu	37	7	142162218	142162218	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr7:142162218C>T	uc011krx.2	-	1	72	c.57G>A	c.(55-57)gtG>gtA	p.V19V	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc022ani.1_Non-coding_Transcript|BV13S6J2.1_uc011krw.2_Silent_p.V19V					SubName: Full=BV13S6J2.1 protein; Flags: Fragment;																		CACCAGCATTCACTGGACCTG	0.532000														64			10		0	0	0.006214	0	0
SNX13	23161	broad.mit.edu	37	7	17843141	17843141	+	Silent	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr7:17843141G>A	uc003stv.3	-	20	2340	c.2127C>T	c.(2125-2127)tcC>tcT	p.S709S	SNX13_uc010kuc.3_Silent_p.S506S|SNX13_uc003stw.1_Silent_p.S720S|SNX13_uc010kub.3_Silent_p.S115S	NM_015132	NP_055947	Q9Y5W8	SNX13_HUMAN	Homo sapiens sorting nexin 13 (SNX13), mRNA.	720					cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					TATCAGGAAGGGATTTAACTG	0.348000														21			5		0	0	0.000602	0	0
MICALL2	79778	broad.mit.edu	37	7	1479646	1479646	+	Silent	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr7:1479646G>A	uc003skj.4	-	8	2028	c.1881C>T	c.(1879-1881)agC>agT	p.S627S	MICALL2_uc003ski.4_Silent_p.S114S	NM_182924	NP_891554	Q8IY33	MILK2_HUMAN	Homo sapiens MICAL-like 2 (MICALL2), transcript variant 1, mRNA.	627						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)		TCCCAGCAAAGCTGCCTGAGA	0.682000														35			13		0	0	0.002450	0	0
E2F8	79733	broad.mit.edu	37	11	19256297	19256297	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr11:19256297G>A	uc001mpm.3	-	4	1282	c.760C>T	c.(760-762)Cgg>Tgg	p.R254W	E2F8_uc009yhv.3_Non-coding_Transcript|E2F8_uc001mpn.4_Missense_Mutation_p.R254W	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	Homo sapiens E2F transcription factor 8 (E2F8), transcript variant 1, mRNA.	254					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.F253L(1)		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						TCACCTGCCCGAAATTCCACT	0.453000														54			5		0	0	0.001984	0	0
OR5M1	390168	broad.mit.edu	37	11	56380880	56380880	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr11:56380880C>T	uc001nja.1	-	0	99	c.99G>A	c.(97-99)gcG>gcA	p.A33A	OR8U8_uc001nit.2_Intron	NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 1 (OR5M1), mRNA.	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						TTAGGTAGATCGCAAGGAATA	0.493000														105			14		0	0	0.001855	0	0
KCNV2	169522	broad.mit.edu	37	9	2717765	2717765	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr9:2717765G>A	uc003zho.2	+	0	240	c.26G>A	c.(25-27)cGg>cAg	p.R9Q		NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN	Homo sapiens potassium channel, subfamily V, member 2 (KCNV2), mRNA.	9						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		GAGAGGAGACGGTCCTGGAGC	0.622000														70			13		0	0	0.001855	0	0
LRP1B	53353	broad.mit.edu	37	2	141812716	141812716	+	Silent	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr2:141812716G>A	uc002tvj.1	-	9	2493	c.1521C>T	c.(1519-1521)ttC>ttT	p.F507F	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	507					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTCCCAAGTTGAAGCCAGTCC	0.433000										TSP Lung(27;0.18)				42			10		0	0	0.008291	0	0
PCDH10	57575	broad.mit.edu	37	4	134073333	134073333	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr4:134073333G>C	uc003iha.3	+	0	2864	c.2038G>C	c.(2038-2040)Gat>Cat	p.D680H	PCDH10_uc003igz.3_Missense_Mutation_p.D680H	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.	680	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TCAGCTGGTGGATGGCGCCGT	0.716000														23			4		0	0	0.000248	0	0
ASGR2	433	broad.mit.edu	37	17	7011786	7011786	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr17:7011786G>A	uc002gep.3	-	3	614	c.347C>T	c.(346-348)aCc>aTc	p.T116I	ASGR2_uc002gen.1_Missense_Mutation_p.T97I|ASGR2_uc002geo.2_Missense_Mutation_p.T111I|ASGR2_uc002geq.3_Missense_Mutation_p.T92I|ASGR2_uc002ger.3_Missense_Mutation_p.T116I|ASGR2_uc010clw.2_Missense_Mutation_p.T92I|ASGR2_uc010vtl.1_Non-coding_Transcript	NM_001181	NP_550434	P07307	ASGR2_HUMAN	Homo sapiens asialoglycoprotein receptor 2 (ASGR2), transcript variant 1, mRNA.	116					cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	CTCACCGTGGGTGCTGATTGC	0.622000														7			3		0	0	0.004672	0	0
PTPRT	11122	broad.mit.edu	37	20	40980844	40980844	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr20:40980844C>T	uc002xkg.3	-	9	1826	c.1642G>A	c.(1642-1644)Gaa>Aaa	p.E548K	PTPRT_uc010ggj.3_Missense_Mutation_p.E548K	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	548	Fibronectin type-III 3.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGGTGGGTTTCATTCCGGAGC	0.572000														154			18		0	0	0.006122	0	0
ZNF142	7701	broad.mit.edu	37	2	219508457	219508458	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr2:219508457_219508458GT>AA	uc002vin.3	-	7	3217_3218	c.2781_2782AC>TT	c.(2779-2784)ccacct>ccTTct	p.P928S	ZNF142_uc002vil.3_Missense_Mutation_p.P889S|ZNF142_uc010fvt.3_Missense_Mutation_p.P765S|ZNF142_uc002vim.3_Missense_Mutation_p.P765S	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	Homo sapiens zinc finger protein 142 (ZNF142), mRNA.	928					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TGTGATGCAGGTGGGGGCTTCC	0.554000														195			28		0	0	0.004672	0	0
KIAA1147	57189	broad.mit.edu	37	7	141385412	141385412	+	Silent	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr7:141385412G>A	uc003vwk.3	-	2	393	c.393C>T	c.(391-393)ttC>ttT	p.F131F		NM_001080392	NP_001073861	A4D1U4	LCHN_HUMAN	Homo sapiens KIAA1147 (KIAA1147), mRNA.	131										breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1)	12	Melanoma(164;0.0171)					AGGCCAGGCCGAAGAAGGGCC	0.517000														48			10		0	0	0.001368	0	0
VN1R2	317701	broad.mit.edu	37	19	53761968	53761968	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr19:53761968C>T	uc002qbi.2	+	0	424	c.340C>T	c.(340-342)Ctt>Ttt	p.L114F		NM_173856	NP_776255	Q8NFZ6	VN1R2_HUMAN	Homo sapiens vomeronasal 1 receptor 2 (VN1R2), mRNA.	114					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		TTATATGTTCCTTTACTTTAG	0.438000														30			6		0	0	0.001168	0	0
TIMELESS	8914	broad.mit.edu	37	12	56815145	56815145	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr12:56815145G>A	uc001slf.2	-	22	3026	c.2858C>T	c.(2857-2859)tCc>tTc	p.S953F		NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	Homo sapiens timeless homolog (Drosophila) (TIMELESS), mRNA.	953					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CAAGATGGAGGATGCCAACTT	0.557000														78			14		0	0	0.002450	0	0
LGI2	55203	broad.mit.edu	37	4	25005142	25005142	+	Silent	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr4:25005142G>A	uc003grf.2	-	7	1668	c.1569C>T	c.(1567-1569)ttC>ttT	p.F523F		NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 2 (LGI2), mRNA.	523						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				ATGCAAAAAAGAAATCTCTCC	0.393000														36			4		0	0	0.000248	0	0
RADIL	55698	broad.mit.edu	37	7	4917235	4917236	+	Splice_Site	DNP	CC	AA	AA			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr7:4917235_4917236CC>AA	uc003snj.1	-	2	708	c.535_splice	c.e2+1	p.G179_splice	RADIL_uc003sng.1_Splice_Site|RADIL_uc011jwd.1_Splice_Site	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN	Homo sapiens Ras association and DIL domains (RADIL), mRNA.	179					cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GCCCCCCTCACCTGCCGTGATG	0.624000														52			7		0	0	0.004672	0	0
RGS21	431704	broad.mit.edu	37	1	192335158	192335158	+	Silent	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr1:192335158G>A	uc001gsh.3	+	4	537	c.363G>A	c.(361-363)aaG>aaA	p.K121K		NM_001039152	NP_001034241	Q2M5E4	RGS21_HUMAN	Homo sapiens regulator of G-protein signaling 21 (RGS21), mRNA.	121	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						TCATGGCCAAGGATTCTTTCC	0.378000														59			31		0	0	0.001786	0	0
EPC2	26122	broad.mit.edu	37	2	149542480	149542480	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr2:149542480C>T	uc010zbt.2	+	12	2288	c.2261C>T	c.(2260-2262)tCg>tTg	p.S754L		NM_015630	NP_056445	Q52LR7	EPC2_HUMAN	Homo sapiens enhancer of polycomb homolog 2 (Drosophila) (EPC2), mRNA.	754					DNA repair|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		TCAGCACCATCGCCAACAGCC	0.483000														25			5		0	0	0.000602	0	0
CXCR1	3577	broad.mit.edu	37	2	219029397	219029397	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr2:219029397G>A	uc021vwq.1	-	0	538	c.538C>T	c.(538-540)Cca>Tca	p.P180S	CXCR1_uc002vhc.3_Missense_Mutation_p.P180S|HV303425_uc021vwr.1_Non-coding_Transcript	NM_000634	NP_000625	P25024	CXCR1_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 1 (CXCR1), mRNA.	180					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						GAATTGTTTGGATGGTAAGCC	0.512000														34			9		0	0	0.006214	0	0
LMX1A	4009	broad.mit.edu	37	1	165218847	165218847	+	Silent	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr1:165218847G>A	uc001gcz.2	-	3	488	c.294C>T	c.(292-294)ttC>ttT	p.F98F	LMX1A_uc021pdz.1_Silent_p.F98F	NM_001174069	NP_796372	Q8TE12	LMX1A_HUMAN	Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA.	98	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CGATGGCCTCGAAGCAGCCCC	0.542000														17			7		0	0	0.003080	0	0
SLIT3	6586	broad.mit.edu	37	5	168176565	168176565	+	Silent	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr5:168176565G>A	uc010jjg.3	-	18	2469	c.2049C>T	c.(2047-2049)atC>atT	p.I683I	SLIT3_uc003mab.3_Silent_p.I683I	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	683	LRRCT 3.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCCACTGACGATCCGCCTCT	0.552000														103			14		0	0	0.002450	0	0
FYB	2533	broad.mit.edu	37	5	39202018	39202018	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr5:39202018G>A	uc003jls.3	-	0	1112	c.1045C>T	c.(1045-1047)Ccc>Tcc	p.P349S	FYB_uc003jlt.3_Missense_Mutation_p.P349S|FYB_uc003jlu.3_Missense_Mutation_p.P349S|FYB_uc011cpl.2_Missense_Mutation_p.P359S	NM_199335	NP_955367	O15117	FYB_HUMAN	Homo sapiens FYN binding protein (FYB), transcript variant 2, mRNA.	349	Interaction with SKAP1.				NLS-bearing substrate import into nucleus|T cell receptor signaling pathway|cell junction assembly|immune response|intracellular protein kinase cascade|protein phosphorylation	cytosol|nucleus	protein binding	p.P348L(1)|p.P349P(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			GTAAACAAGGGAGGCAATGGC	0.512000														56			5		0	0	0.000602	0	0
ABCB1	5243	broad.mit.edu	37	7	87214866	87214866	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr7:87214866C>T	uc003uiz.2	-	4	741	c.248G>A	c.(247-249)gGa>gAa	p.G83E	ABCB1_uc011khc.2_Missense_Mutation_p.G83E	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	83	ABC transmembrane type-1 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TTCTAAATTTCCTGCATTTGC	0.393000														43			7		0	0	0.003080	0	0
PNLIPRP3	119548	broad.mit.edu	37	10	118220731	118220731	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr10:118220731G>A	uc001lcl.4	+	6	838	c.737G>A	c.(736-738)gGg>gAg	p.G246E		NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN	Homo sapiens pancreatic lipase-related protein 3 (PNLIPRP3), mRNA.	246					lipid catabolic process	extracellular region	triglyceride lipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		CCAAATGGAGGGAAGCACATG	0.353000														83			11		0	0	0.001368	0	0
ABCC3	8714	broad.mit.edu	37	17	48736713	48736713	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr17:48736713G>A	uc002isl.3	+	6	870	c.790G>A	c.(790-792)Gaa>Aaa	p.E264K	ABCC3_uc002isk.4_Missense_Mutation_p.E264K	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	264					bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	GAGGAAGCAGGAAAAGCAGAC	0.622000														74			11		0	0	0.000978	0	0
CTC1	80169	broad.mit.edu	37	17	8138478	8138478	+	Silent	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr17:8138478G>A	uc002gkq.4	-	7	1391	c.1332C>T	c.(1330-1332)tcC>tcT	p.S444S	CTC1_uc010cnv.3_Non-coding_Transcript	NM_025099	NP_079375	Q2NKJ3	CTC1_HUMAN	Homo sapiens CTS telomere maintenance complex component 1 (CTC1), mRNA.	444					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						AGGCTTGACGGGATGAGTGAG	0.637000														88			14		0	0	0.004007	0	0
SKAP2	8935	broad.mit.edu	37	7	26779529	26779529	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr7:26779529C>A	uc003syc.3	-	4	655	c.362G>T	c.(361-363)gGc>gTc	p.G121V	SKAP2_uc011jzi.2_5'UTR|SKAP2_uc011jzj.2_Missense_Mutation_p.G106V	NM_003930	NP_003921	O75563	SKAP2_HUMAN	Homo sapiens src kinase associated phosphoprotein 2 (SKAP2), mRNA.	121	PH.				B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						TTCAAGGTAGCCAGCCTTTAG	0.373000														28			6		0.000157383	0.000225861	0.003080	1	0
DYNC2H1	79659	broad.mit.edu	37	11	102995997	102995997	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr11:102995997C>T	uc001phn.1	+	11	1974	c.1830C>T	c.(1828-1830)ttC>ttT	p.F610F	DYNC2H1_uc009yxe.1_Silent_p.F610F|DYNC2H1_uc001pho.2_Silent_p.F610F	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	610	Stem (By similarity).				Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CACAGAAATTCTGCAAGCAAG	0.358000														14			9		0	0	0.006214	0	0
TUBA3D	113457	broad.mit.edu	37	2	132238230	132238230	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr2:132238230G>A	uc002tsu.4	+	3	1157	c.964G>A	c.(964-966)Gac>Aac	p.D322N		NM_080386	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3d (TUBA3D), mRNA.	322					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		GTACAGGGGGGACGTGGTCCC	0.567000														95			23		0	0	0.002299	0	0
SULF2	55959	broad.mit.edu	37	20	46311799	46311799	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr20:46311799A>G	uc002xto.3	-	6	1333	c.1003T>C	c.(1003-1005)Tat>Cat	p.Y335H	SULF2_uc002xtr.3_Missense_Mutation_p.Y335H|SULF2_uc002xtq.3_Missense_Mutation_p.Y335H	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	Homo sapiens sulfatase 2 (SULF2), transcript variant 1, mRNA.	335					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						TCAAACTCATATGGCATGGAT	0.592000														78			6		0	0	0.001168	0	0
MAN2A2	4122	broad.mit.edu	37	15	91449243	91449243	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr15:91449243G>A	uc010bnz.2	+	4	819	c.704G>A	c.(703-705)cGa>cAa	p.R235Q	MAN2A2_uc010boa.3_Missense_Mutation_p.R277Q|MAN2A2_uc002bqc.3_Missense_Mutation_p.R235Q|MAN2A2_uc010uql.2_5'Flank|MAN2A2_uc010uqm.2_5'Flank	NM_006122	NP_006113	P49641	MA2A2_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 2 (MAN2A2), mRNA.	235					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GCGGCAGTCCGAAGGCCAGTA	0.622000														223			89		0	0	0.003610	0	0
DNAH3	55567	broad.mit.edu	37	16	20959850	20959850	+	Silent	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr16:20959850G>A	uc010vbe.2	-	56	11298	c.11298C>T	c.(11296-11298)ctC>ctT	p.L3766L	DNAH3_uc010vbd.2_Silent_p.L1201L	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3766					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTCCAGGAGCGAGGGAGTAAT	0.542000														39			11		0	0	0.008291	0	0
ATG2B	55102	broad.mit.edu	37	14	96756092	96756092	+	Silent	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr14:96756092G>A	uc001yfi.3	-	40	6272	c.5907C>T	c.(5905-5907)atC>atT	p.I1969I		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog B (S. cerevisiae) (ATG2B), mRNA.	1969										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TCTTGGGCTCGATAGAAAGGG	0.478000														60			15		0	0	0.004990	0	0
CD74	972	broad.mit.edu	37	5	149786757	149786757	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr5:149786757G>A	uc003lsc.3	-	1	443	c.256C>T	c.(256-258)Cag>Tag	p.Q86*	CD74_uc003lsd.3_Nonsense_Mutation_p.Q86*|CD74_uc003lse.3_Nonsense_Mutation_p.Q86*	NM_001025159	NP_001020330	P04233	HG2A_HUMAN	Homo sapiens CD74 molecule, major histocompatibility complex, class II invariant chain (CD74), transcript variant 1, mRNA.	86					antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation	Golgi apparatus|endoplasmic reticulum membrane|integral to membrane|lysosome|receptor complex	MHC class II protein binding|beta-amyloid binding|cytokine receptor activity|identical protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCAGGTTCTGGGAGGTGACT	0.607000			T	ROS1	NSCLC									37			6		0	0	0.001168	0	0
NRP1	8829	broad.mit.edu	37	10	33559734	33559734	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr10:33559734C>T	uc001iwx.4	-	2	822	c.299G>A	c.(298-300)aGg>aAg	p.R100K	NRP1_uc001iwv.4_Missense_Mutation_p.R100K|NRP1_uc001iwy.4_Missense_Mutation_p.R100K|NRP1_uc009xlz.3_Missense_Mutation_p.R100K|NRP1_uc001iww.4_Intron|NRP1_uc001iwz.2_Missense_Mutation_p.R100K|NRP1_uc001ixa.2_Missense_Mutation_p.R100K|NRP1_uc001ixb.2_Missense_Mutation_p.R100K|NRP1_uc001ixc.1_Missense_Mutation_p.R100K	NM_003873	NP_003864	O14786	NRP1_HUMAN	Homo sapiens neuropilin 1 (NRP1), transcript variant 1, mRNA.	100	CUB 1.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	GAACTTTCCCCTAAAATGTCC	0.408000														32			9		0	0	0.004482	0	0
OR51B6	390058	broad.mit.edu	37	11	5373569	5373569	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr11:5373569C>T	uc010qzb.2	+	0	832	c.832C>T	c.(832-834)Cac>Tac	p.H278Y	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004750	NP_001004750	Q9H340	O51B6_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 6 (OR51B6), mRNA.	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGCTACATCCACTTCCTTTT	0.398000														100			17		0	0	0.007413	0	0
ZSCAN2	54993	broad.mit.edu	37	15	85164501	85164501	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr15:85164501G>A	uc002bkr.3	+	2	1301	c.1075G>A	c.(1075-1077)Gaa>Aaa	p.E359K	ZSCAN2_uc010bmz.1_Missense_Mutation_p.E357K|ZSCAN2_uc010bna.3_Missense_Mutation_p.E209K|ZSCAN2_uc010uoz.1_Intron|ZSCAN2_uc010uox.1_Intron|ZSCAN2_uc010uoy.1_Intron	NM_181877	NP_870992	Q7Z7L9	ZSCA2_HUMAN	Homo sapiens zinc finger and SCAN domain containing 2 (ZSCAN2), transcript variant 1, mRNA.	359					cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		CCACACTGGAGAAAAGCCCTA	0.502000														153			19		0	0	0.003330	0	0
HSPH1	10808	broad.mit.edu	37	13	31717943	31717943	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr13:31717943G>A	uc001utl.3	-	11	1979	c.1708C>T	c.(1708-1710)Cca>Tca	p.P570S	HSPH1_uc001utj.3_Missense_Mutation_p.P568S|HSPH1_uc001utk.3_Intron|HSPH1_uc010aaw.3_Missense_Mutation_p.P527S|HSPH1_uc010tds.2_Missense_Mutation_p.P492S	NM_006644	NP_006635	Q92598	HS105_HUMAN	Homo sapiens heat shock 105kDa/110kDa protein 1 (HSPH1), mRNA.	568					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		TCAGCATCTGGGATTTTGTTT	0.408000														67			12		0	0	0.001368	0	0
ADAM2	2515	broad.mit.edu	37	8	39645705	39645705	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr8:39645705T>A	uc003xnj.3	-	8	783	c.708A>T	c.(706-708)aaA>aaT	p.K236N	ADAM2_uc003xnk.3_Missense_Mutation_p.K217N|ADAM2_uc011lck.2_Missense_Mutation_p.K236N|ADAM2_uc003xnl.3_Intron	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	236	Peptidase M12B.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TGGTTGCAATTTTATTTTCAT	0.294000														50			11		0	0	0.001368	0	0
FAT3	120114	broad.mit.edu	37	11	92087123	92087123	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr11:92087123C>T	uc001pdj.4	+	0	1862	c.1845C>T	c.(1843-1845)atC>atT	p.I615I		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	615	Cadherin 6.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGTACAAAATCATTTCTGGAA	0.363000										TCGA Ovarian(4;0.039)				413			62		0	0	0.003610	0	0
SNCAIP	9627	broad.mit.edu	37	5	121786421	121786421	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr5:121786421G>A	uc003ksw.1	+	9	2085	c.1879G>A	c.(1879-1881)Gaa>Aaa	p.E627K	SNCAIP_uc011cwl.1_Missense_Mutation_p.E185K|SNCAIP_uc003ksy.1_Missense_Mutation_p.E261K|SNCAIP_uc003ksx.1_Missense_Mutation_p.E674K|SNCAIP_uc003ksz.1_Missense_Mutation_p.E261K|SNCAIP_uc010jcu.2_Missense_Mutation_p.E223K|SNCAIP_uc011cwm.1_Missense_Mutation_p.E261K|SNCAIP_uc003kta.1_Missense_Mutation_p.E259K|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.E321K|SNCAIP_uc010jcx.1_Missense_Mutation_p.E567K|BC029465_uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Missense_Mutation_p.E143K	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	627					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)		ATTGGGAAAGGAAATCTCAGA	0.458000														70			13		0	0	0.001855	0	0
COL21A1	81578	broad.mit.edu	37	6	55925714	55925715	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr6:55925714_55925715CC>TT	uc003pcs.3	-	25	2558_2559	c.2326_2327GG>AA	c.(2326-2328)gga>AAa	p.G776K	COL21A1_uc010jzz.3_Missense_Mutation_p.G161K|COL21A1_uc011dxg.2_Missense_Mutation_p.G149K|COL21A1_uc011dxh.2_Missense_Mutation_p.G161K|COL21A1_uc003pcr.3_Missense_Mutation_p.G133K	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	776	Collagen-like 5.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			ACCTGGGGGTCCCTGAGGACCT	0.490000														24			5		0	0	0.004672	0	0
HEPH	9843	broad.mit.edu	37	X	65486447	65486447	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chrX:65486447G>A	uc011moz.2	+	20	3709	c.3572G>A	c.(3571-3573)aGa>aAa	p.R1191K	HEPH_uc004dwn.3_Missense_Mutation_p.R1139K|HEPH_uc004dwo.3_Missense_Mutation_p.R870K|HEPH_uc010nkr.3_Missense_Mutation_p.R948K|HEPH_uc011mpa.2_Missense_Mutation_p.R1140K	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	1137					cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CATCGACAGAGAAAGCTACGA	0.488000														19			5		0	0	0.001168	0	0
PCLO	27445	broad.mit.edu	37	7	82585208	82585208	+	Silent	SNP	T	C	C			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr7:82585208T>C	uc003uhx.2	-	4	5350	c.5061A>G	c.(5059-5061)aaA>aaG	p.K1687K	PCLO_uc003uhv.2_Silent_p.K1687K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1618					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						AACTTGTTTTTTTCTGTGATG	0.423000														59			6		0	0	0.001984	0	0
PTK7	5754	broad.mit.edu	37	6	43098319	43098319	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr6:43098319C>T	uc011dve.1	+	4	798	c.756C>T	c.(754-756)ttC>ttT	p.F252F	PTK7_uc003oub.1_Silent_p.F244F|PTK7_uc003ouc.1_Silent_p.F244F|PTK7_uc003oud.1_Silent_p.F244F|PTK7_uc003oue.1_Silent_p.F244F|PTK7_uc003ouf.1_Non-coding_Transcript|PTK7_uc003oug.1_Non-coding_Transcript|PTK7_uc010jyj.1_5'Flank|PTK7_uc003oua.3_Silent_p.F244F	NM_002821	NP_002812	Q13308	PTK7_HUMAN	Homo sapiens PTK7 protein tyrosine kinase 7 (PTK7), transcript variant PTK7-1, mRNA.	244	Ig-like C2-type 3.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			AGGCCATGTTCCATTGCCAGT	0.592000														37			4		0	0	0.000602	0	0
UNC13C	440279	broad.mit.edu	37	15	54305845	54305845	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr15:54305845G>A	uc021smr.1	+	0	745	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	UNC13C_uc021sms.1_Missense_Mutation_p.E249K	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	249					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GATCTTTAAGGAACTTCAGGG	0.468000														104			8		0	0	0.004482	0	0
DNAJC4	3338	broad.mit.edu	37	11	64001477	64001477	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr11:64001477C>T	uc001nyt.3	+	4	1065	c.642C>T	c.(640-642)tcC>tcT	p.S214S	AX747192_uc001nyr.1_5'Flank|DNAJC4_uc001nys.3_Intron|DNAJC4_uc001nyu.3_Silent_p.S213S|VEGFB_uc001nyx.3_5'Flank|VEGFB_uc001nyw.3_5'Flank			Q9NNZ3	DNJC4_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 4 (DNAJC4), mRNA.	0					protein folding|response to unfolded protein	integral to membrane|membrane fraction	heat shock protein binding|unfolded protein binding			endometrium(1)|lung(1)|prostate(1)	3						TATTCTGCTCCCTGCTCCCTG	0.577000														49			8		0	0	0.006214	0	0
SPON1	10418	broad.mit.edu	37	11	14280924	14280924	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr11:14280924T>G	uc001mle.3	+	12	1856	c.1588T>G	c.(1588-1590)Ttc>Gtc	p.F530V		NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN	Homo sapiens spondin 1, extracellular matrix protein (SPON1), mRNA.	531	TSP type-1 2.				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		TGTGAAGCAGTTCCCGGAGGA	0.662000														23			6		0	0	0.001168	0	0
CMYA5	202333	broad.mit.edu	37	5	79026637	79026637	+	Silent	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr5:79026637G>A	uc003kgc.3	+	1	2121	c.2049G>A	c.(2047-2049)gaG>gaA	p.E683E		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	683						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CAGGAGACGAGGCCTCAGAAA	0.453000														34			7		0	0	0.001984	0	0
NRXN3	9369	broad.mit.edu	37	14	79181468	79181468	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr14:79181468G>A	uc001xun.3	+	4	1402	c.911G>A	c.(910-912)aGa>aAa	p.R304K	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Missense_Mutation_p.R438K	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	0					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TACTGGGGAAGAACCTGCGAA	0.592000														48			8		0	0	0.003080	0	0
ACSM1	116285	broad.mit.edu	37	16	20638585	20638585	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr16:20638585C>T	uc002dhm.1	-	9	1421	c.1353G>A	c.(1351-1353)ggG>ggA	p.G451G	ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Silent_p.G451G	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	451					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding	p.G451V(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TACCTCTGTCCCCAGTGTTGT	0.498000														344			110		0	0	0.003610	0	0
CEP164	22897	broad.mit.edu	37	11	117261549	117261550	+	Missense_Mutation	DNP	AG	CA	CA	rs150261648		TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr11:117261549_117261550AG>CA	uc001prc.3	+	15	2138_2139	c.1991_1992AG>CA	c.(1990-1992)gag>gCA	p.E664A	CEP164_uc001prb.3_Missense_Mutation_p.E667A|CEP164_uc010rxk.1_Missense_Mutation_p.E638A|CEP164_uc001prf.3_Non-coding_Transcript|CEP164_uc009yzp.1_Non-coding_Transcript|CEP164_uc001prg.1_Missense_Mutation_p.E97A	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	Homo sapiens centrosomal protein 164kDa (CEP164), mRNA.	664	Glu-rich.				DNA repair|G2/M transition of mitotic cell cycle|cell division|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		CGGATGAGAGAGGAGGAAAGCC	0.545000														70			12		0	0	0.004672	0	0
C3AR1	719	broad.mit.edu	37	12	8212497	8212497	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr12:8212497G>C	uc001qtv.1	-	1	377	c.285C>G	c.(283-285)tgC>tgG	p.C95W	C3AR1_uc021quj.1_Missense_Mutation_p.C95W	NM_004054	NP_004045	Q16581	C3AR_HUMAN	Homo sapiens complement component 3a receptor 1 (C3AR1), mRNA.	95					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		GGATGAGCTTGCATAGGAACC	0.557000														47			8		0	0	0.004482	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885871	88885871	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr8:88885871G>A	uc003ydz.3	-	0	426	c.329C>T	c.(328-330)cCt>cTt	p.P110L		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA.	110								p.P110H(2)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CCGGAGCTCAGGGGTCGTCAG	0.537000														107			23		0	0	0.004656	0	0
PCLO	27445	broad.mit.edu	37	7	82545020	82545020	+	Silent	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr7:82545020G>A	uc003uhx.2	-	6	12571	c.12282C>T	c.(12280-12282)ttC>ttT	p.F4094F	PCLO_uc003uhv.2_Silent_p.F4094F|PCLO_uc010lec.3_Silent_p.F1059F	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4025					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						AAGGTGCTAGGAAATCTGTCA	0.453000														19			5		0	0	0.000602	0	0
ABCA4	24	broad.mit.edu	37	1	94466645	94466645	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr1:94466645C>T	uc001dqh.3	-	45	6403	c.6299G>A	c.(6298-6300)gGg>gAg	p.G2100E		NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	2100	ABC transporter 2.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GGGGTCCATCCCTGTGGTGGG	0.632000														61			7		0	0	0.003080	0	0
TTN	7273	broad.mit.edu	37	2	179654825	179654825	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr2:179654825C>T	uc021vsy.1	-	11	2043	c.1818G>A	c.(1816-1818)agG>agA	p.R606R	TTN_uc021vsz.1_Silent_p.R560R|TTN_uc021vta.1_Silent_p.R560R|TTN_uc021vtb.1_Silent_p.R560R|TTN_uc002unb.2_Silent_p.R606R|TTN_uc010frg.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	606							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)			CAACTGTTTTCCTAGTTTCCT	0.313000														49			12		0	0	0.001368	0	0
CYP4F3	4051	broad.mit.edu	37	19	15763401	15763401	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr19:15763401C>T	uc010xok.2	+	7	991	c.941C>T	c.(940-942)tCc>tTc	p.S314F	CYP4F3_uc010xol.2_Missense_Mutation_p.S314F|CYP4F3_uc002nbj.3_Missense_Mutation_p.S314F|CYP4F3_uc010xom.2_Missense_Mutation_p.S165F|CYP4F3_uc002nbk.3_Missense_Mutation_p.S314F|CYP4F3_uc010xon.2_Missense_Mutation_p.S24F	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.	314					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						AAGAAGTTGTCCGATGAGGAC	0.517000														133			28		0	0	0.002096	0	0
CASP8AP2	9994	broad.mit.edu	37	6	90576971	90576971	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr6:90576971C>T	uc003pnr.3	+	7	4158	c.3962C>T	c.(3961-3963)tCt>tTt	p.S1321F	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.3_Missense_Mutation_p.S1321F|CASP8AP2_uc011dzz.2_Missense_Mutation_p.S1321F	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	Homo sapiens caspase 8 associated protein 2 (CASP8AP2), transcript variant 2, mRNA.	1321					cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TTGCAAGGTTCTGATCTTTTA	0.388000														47			8		0	0	0.003080	0	0
MAP2	4133	broad.mit.edu	37	2	210557650	210557650	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr2:210557650C>T	uc002vde.1	+	6	1004	c.756C>T	c.(754-756)ctC>ctT	p.L252L	MAP2_uc002vdc.1_Silent_p.L252L|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Silent_p.L248L	NM_002374	NP_002365	P11137	MAP2_HUMAN	Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA.	252					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	GCATTGACCTCCCTAAAGAGC	0.473000														59			6		0	0	0.001984	0	0
KIF4B	285643	broad.mit.edu	37	5	154395225	154395225	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr5:154395225C>T	uc010jih.1	+	0	1966	c.1806C>T	c.(1804-1806)ctC>ctT	p.L602L		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	602					axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACAAACTTCTCCAGGAGCTGG	0.453000														60			14		0	0	0.002450	0	0
IGFBPL1	347252	broad.mit.edu	37	9	38413254	38413254	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr9:38413254C>G	uc004aba.3	-	2	690	c.667G>C	c.(667-669)Gag>Cag	p.E223Q		NM_001007563	NP_001007564	Q8WX77	IBPL1_HUMAN	Homo sapiens insulin-like growth factor binding protein-like 1 (IGFBPL1), mRNA.	223	Ig-like C2-type.				regulation of cell growth	extracellular region	insulin-like growth factor binding			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(29;0.0437)|Lung(182;0.116)		GCCGTGGCCTCATGGTCAGAA	0.478000														46			11		0	0	0.008291	0	0
TSHB	7252	broad.mit.edu	37	1	115576081	115576081	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr1:115576081G>A	uc001efs.1	+	1	166	c.98G>A	c.(97-99)aGg>aAg	p.R33K		NM_000549	NP_000540	P01222	TSHB_HUMAN	Homo sapiens thyroid stimulating hormone, beta (TSHB), mRNA.	33					G-protein coupled receptor protein signaling pathway|anatomical structure morphogenesis|cell-cell signaling|cellular nitrogen compound metabolic process|hormone biosynthetic process|peptide hormone processing	extracellular region	hormone activity	p.E32K(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	Lung SC(450;0.211)	all_cancers(81;3.22e-07)|all_epithelial(167;1.4e-06)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		CACATCGAAAGGAGAGAGTGT	0.423000														72			28		0	0	0.006320	0	0
NALCN	259232	broad.mit.edu	37	13	101760095	101760095	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr13:101760095C>T	uc001vox.1	-	20	2599	c.2410G>A	c.(2410-2412)Gaa>Aaa	p.E804K		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	804						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ATCTTTATTTCACTGTCTTCT	0.393000														43			4		0	0	0.000248	0	0
CD276	80381	broad.mit.edu	37	15	73996595	73996595	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr15:73996595C>T	uc002avv.1	+	5	1385	c.1151C>T	c.(1150-1152)tCc>tTc	p.S384F	CD276_uc010bjd.1_Missense_Mutation_p.S238F|CD276_uc002avu.1_Missense_Mutation_p.S384F|CD276_uc002avw.1_Missense_Mutation_p.S166F|CD276_uc010ulb.1_Missense_Mutation_p.S330F	NM_001024736	NP_001019907	Q5ZPR3	CD276_HUMAN	Homo sapiens CD276 molecule (CD276), transcript variant 1, mRNA.	384	Ig-like C2-type 2.				T cell activation|cell proliferation|immune response|positive regulation of T cell proliferation|positive regulation of interferon-gamma biosynthetic process|regulation of immune response	external side of plasma membrane|integral to membrane	receptor binding			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						ATCACGTGCTCCAGCTACCGG	0.652000														37			8		0	0	0.003080	0	0
FLNB	2317	broad.mit.edu	37	3	58094258	58094258	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr3:58094258C>T	uc003djj.2	+	12	2180	c.2015C>T	c.(2014-2016)cCt>cTt	p.P672L	FLNB_uc010hne.2_Missense_Mutation_p.P672L|FLNB_uc003djk.2_Missense_Mutation_p.P672L|FLNB_uc010hnf.2_Missense_Mutation_p.P672L|FLNB_uc003djl.2_Missense_Mutation_p.P503L|FLNB_uc003djm.2_Missense_Mutation_p.P503L	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	672					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		ACTGTGGATCCTAAGGATGCT	0.473000														27			5		0	0	0.000602	0	0
NUDT7	283927	broad.mit.edu	37	16	77769818	77769818	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr16:77769818G>T	uc010chd.3	+	2	374	c.283G>T	c.(283-285)Gag>Tag	p.E95*	NUDT7_uc021tlp.1_Nonsense_Mutation_p.E95*|NUDT7_uc021tlq.1_Intron|NUDT7_uc010vnj.2_Intron	NM_001105663	NP_001099133	P0C024	NUDT7_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 7 (NUDT7), transcript variant 1, mRNA.	95	Nudix hydrolase.				nucleoside diphosphate metabolic process	peroxisome	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding			breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						GGAAGCCCAGGAGGAAGTGGG	0.552000														53			23		2.98393e-07	4.32175e-07	0.002780	1	0
PSAT1	29968	broad.mit.edu	37	9	80921375	80921375	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr9:80921375C>T	uc004ala.3	+	4	611	c.543C>T	c.(541-543)ttC>ttT	p.F181F	PSAT1_uc004alb.3_Silent_p.F181F	NM_058179	NP_478059	Q9Y617	SERC_HUMAN	Homo sapiens phosphoserine aminotransferase 1 (PSAT1), transcript variant 1, mRNA.	181					L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)	CCTCAAACTTCCTGTCCAAGC	0.463000														288			49		0	0	0.003610	0	0
FAM71B	153745	broad.mit.edu	37	5	156593007	156593007	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr5:156593007C>T	uc003lwn.3	-	0	273	c.173G>A	c.(172-174)gGa>gAa	p.G58E		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	58						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AATCACCTCTCCCTTTTTGTT	0.478000														520			110		0	0	0.003610	0	0
ANGPT1	284	broad.mit.edu	37	8	108315502	108315502	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr8:108315502G>A	uc003ymn.3	-	4	1370	c.902C>T	c.(901-903)aCt>aTt	p.T301I	ANGPT1_uc011lhv.2_Missense_Mutation_p.T101I|ANGPT1_uc003ymo.3_Missense_Mutation_p.T300I|ANGPT1_uc003ymp.4_Missense_Mutation_p.T100I	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	301	Fibrinogen C-terminal.				Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			AATATAAATAGTGTAGATTCC	0.343000														49			11		0	0	0.008291	0	0
GLI4	2738	broad.mit.edu	37	8	144358683	144358683	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr8:144358683C>T	uc003yxx.3	+	3	925	c.840C>T	c.(838-840)tcC>tcT	p.S280S	ZFP41_uc003yxv.3_Non-coding_Transcript	NM_138465	NP_612474	P10075	GLI4_HUMAN	Homo sapiens GLI family zinc finger 4 (GLI4), mRNA.	280						nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(1)|lung(5)	9	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GCCAGAGCTCCAACCTGGTGC	0.657000														18			5		0	0	0.001168	0	0
CYP4A22	284541	broad.mit.edu	37	1	47610239	47610239	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr1:47610239C>T	uc001cqv.1	+	7	966	c.915C>T	c.(913-915)atC>atT	p.I305I	CYP4A22_uc009vyo.3_Silent_p.I305I|CYP4A22_uc009vyp.3_Intron	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 22 (CYP4A22), mRNA.	305						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATGGGAGCATCTTGTCAGACA	0.542000														123			5		0	0	0.003080	0	0
CAMKK2	10645	broad.mit.edu	37	12	121693421	121693421	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr12:121693421G>A	uc001tzv.3	-	8	1668	c.839C>T	c.(838-840)aCc>aTc	p.T280I	CAMKK2_uc001tzt.3_Missense_Mutation_p.T280I|CAMKK2_uc001tzu.3_Missense_Mutation_p.T280I|CAMKK2_uc001tzw.3_Missense_Mutation_p.T280I|CAMKK2_uc001tzx.3_Missense_Mutation_p.T280I|CAMKK2_uc001tzy.3_Missense_Mutation_p.T280I|CAMKK2_uc001tzz.1_Missense_Mutation_p.T67I|CAMKK2_uc001uaa.1_Missense_Mutation_p.T280I|CAMKK2_uc001uab.3_Missense_Mutation_p.T280I|CAMKK2_uc001uac.3_Missense_Mutation_p.T280I	NM_006549	NP_006540	Q96RR4	KKCC2_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase kinase 2, beta (CAMKK2), transcript variant 1, mRNA.	280	Protein kinase.				MAPKKK cascade|calcium-mediated signaling|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGGTTTGAGGGTGGGCACTTC	0.582000														208			37		0	0	0.004878	0	0
TPTE	7179	broad.mit.edu	37	21	10933874	10933874	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr21:10933874C>T	uc002yip.1	-	16	1373	c.1005G>A	c.(1003-1005)gcG>gcA	p.A335A	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Silent_p.A317A|TPTE_uc002yir.1_Silent_p.A297A|TPTE_uc010gkv.1_Silent_p.A197A	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	335	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TACAGTGAATCGCTACGATGT	0.318000														230			10		0	0	0.006214	0	0
ROBO2	6092	broad.mit.edu	37	3	77623788	77623788	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr3:77623788A>C	uc011bgk.2	+	14	2765	c.2122A>C	c.(2122-2124)Aag>Cag	p.K708Q	ROBO2_uc021xat.1_Missense_Mutation_p.K720Q|ROBO2_uc003dpy.4_Missense_Mutation_p.K704Q|ROBO2_uc003dpz.3_Missense_Mutation_p.K708Q|ROBO2_uc011bgj.2_Non-coding_Transcript	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	704	Fibronectin type-III 2.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CAACCTGAAAAAGGGGGTGAC	0.428000														34			14		0	0	0.002450	0	0
PRAMEF10	343071	broad.mit.edu	37	1	12952765	12952765	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr1:12952765G>C	uc001auo.3	-	3	1480	c.1407C>G	c.(1405-1407)gaC>gaG	p.D469E		NM_001039361	NP_001034450	O60809	PRA10_HUMAN	Homo sapiens PRAME family member 10 (PRAMEF10), mRNA.	469										NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|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)		AAAGATGGAAGTCCACTTTCT	0.488000														6			3		0	0	0.001168	0	0
ADAM7	8756	broad.mit.edu	37	8	24342868	24342868	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr8:24342868C>T	uc003xeb.3	+	9	1067	c.954C>T	c.(952-954)atC>atT	p.I318I	ADAM7_uc003xec.3_Silent_p.I90I	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	318	Peptidase M12B.				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)		CCACCAGTATCATTAAGGTGG	0.363000														69			7		0	0	0.001984	0	0
PLA2G7	7941	broad.mit.edu	37	6	46675788	46675788	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr6:46675788T>G	uc010jzf.3	-	9	1249	c.980A>C	c.(979-981)aAt>aCt	p.N327T	PLA2G7_uc021zae.1_Missense_Mutation_p.N327T	NM_005084	NP_005075	Q13093	PAFA_HUMAN	Homo sapiens phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) (PLA2G7), transcript variant 1, mRNA.	327					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			TTTTATGATATTAGCAGGATA	0.338000														39			7		0	0	0.001984	0	0
C4orf22	255119	broad.mit.edu	37	4	81791270	81791270	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr4:81791270C>T	uc010ijp.3	+	4	557	c.508C>T	c.(508-510)Cca>Tca	p.P170S	C4orf22_uc003hmf.3_Missense_Mutation_p.P153S	NM_001206997	NP_001193926	Q6V702	CD022_HUMAN	Homo sapiens chromosome 4 open reading frame 22 (C4orf22), transcript variant 1, mRNA.	153										NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						AAGACTTCTTCCAAGGCCTAC	0.373000														81			12		0	0	0.001368	0	0
BSN	8927	broad.mit.edu	37	3	49695561	49695561	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr3:49695561C>T	uc003cxe.4	+	4	8686	c.8572C>T	c.(8572-8574)Ccc>Tcc	p.P2858S		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	2858					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)		GCCCCTCAGCCCCACCGCCGA	0.642000														38			11		0	0	0.001368	0	0
KCNH1	3756	broad.mit.edu	37	1	210977380	210977380	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr1:210977380C>T	uc001hib.2	-	7	1761	c.1591G>A	c.(1591-1593)Gga>Aga	p.G531R	KCNH1_uc001hic.2_Missense_Mutation_p.G504R	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	531					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TCACTCAATCCTTTTGGCACC	0.473000														54			37		0	0	0.003271	0	0
ETV5	2119	broad.mit.edu	37	3	185766568	185766568	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr3:185766568G>A	uc003fpy.3	-	12	1584	c.1519C>T	c.(1519-1521)Ccg>Tcg	p.P507S	ETV5_uc003fpz.3_Missense_Mutation_p.P465S	NM_004454	NP_004445	P41161	ETV5_HUMAN	Homo sapiens ets variant 5 (ETV5), mRNA.	465					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			TTCAGGAACGGACGCTGGTTA	0.592000			T	"""TMPRSS2, SCL45A3"""	Prostate									29			9		0	0	0.006214	0	0
CDH7	1005	broad.mit.edu	37	18	63511048	63511048	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr18:63511048G>A	uc002lkb.3	+	7	1408	c.982_splice	c.e7-1	p.E328_splice	CDH7_uc002ljz.3_Splice_Site_p.E328_splice|CDH7_uc002lka.3_Splice_Site_p.E328_splice	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.	328	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TTCTTTACAGGAGCTGGATTT	0.423000														37			7		0	0	0.004482	0	0
PRB3	5544	broad.mit.edu	37	12	11420830	11420830	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr12:11420830C>T	uc001qzs.3	-	2	391	c.353G>A	c.(352-354)gGa>gAa	p.G118E	PRB4_uc001qzf.1_Intron	NM_006249	NP_006240	Q04118	PRB3_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 3 (PRB3), mRNA.	118	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.					extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TTCTGGCTTTCCCGGACGAGG	0.632000														220			29		0	0	0.008740	0	0
CACNA1F	778	broad.mit.edu	37	X	49072880	49072880	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chrX:49072880C>T	uc004dnb.3	-	26	3293	c.3231G>A	c.(3229-3231)atG>atA	p.M1077I	CACNA1F_uc010nip.3_Missense_Mutation_p.M1066I	NM_005183	NP_005174	O60840	CAC1F_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), mRNA.	1077	Dihydropyridine binding (By similarity).				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	TGAACAGGGCCATCATGGCTG	0.577000														14			5		0	0	0.001984	0	0
NUP210L	91181	broad.mit.edu	37	1	154026824	154026824	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr1:154026824C>T	uc001fdw.3	-	24	3435	c.3363G>A	c.(3361-3363)caG>caA	p.Q1121Q	NUP210L_uc009woq.3_Silent_p.Q30Q|NUP210L_uc010peh.2_Silent_p.Q1121Q	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	1121						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CAGCCACGGTCTGATTACTGA	0.473000														63			36		0	0	0.006230	0	0
MUC16	94025	broad.mit.edu	37	19	9063451	9063451	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr19:9063451G>A	uc002mkp.3	-	2	24199	c.23995C>T	c.(23995-23997)Ctt>Ttt	p.L7999F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8001	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCACAGGAAGAGGAGAGGAA	0.458000														55			5		0	0	0.000602	0	0
PKN3	29941	broad.mit.edu	37	9	131476899	131476899	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr9:131476899C>T	uc004bvw.3	+	11	1933	c.1540C>T	c.(1540-1542)Cca>Tca	p.P514S	PKN3_uc010myh.3_Missense_Mutation_p.P514S|PKN3_uc022bom.1_Non-coding_Transcript	NM_013355	NP_037487	Q6P5Z2	PKN3_HUMAN	Homo sapiens protein kinase N3 (PKN3), mRNA.	514	Pro-rich.				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						ACCCAAGCCCCCACGCCTCTA	0.637000														42			6		0	0	0.001168	0	0
IQCH	64799	broad.mit.edu	37	15	67665734	67665734	+	Silent	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr15:67665734G>A	uc002aqo.2	+	9	1432	c.1335G>A	c.(1333-1335)agG>agA	p.R445R	IQCH_uc002aqn.2_Silent_p.R272R|IQCH_uc002aqp.2_Silent_p.R197R|IQCH_uc002aqq.2_Silent_p.R193R	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	Homo sapiens IQ motif containing H (IQCH), transcript variant 1, mRNA.	445										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		ATCGCATCAGGACCTCCAGGA	0.433000														49			12		0	0	0.003163	0	0
GPR113	165082	broad.mit.edu	37	2	26534301	26534301	+	Silent	SNP	C	T	T	rs139487408	byFrequency	TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr2:26534301C>T	uc002rhe.4	-	10	2295	c.2295G>A	c.(2293-2295)ccG>ccA	p.P765P	GPR113_uc010yky.1_Silent_p.P696P|GPR113_uc002rhb.1_Silent_p.P368P|GPR113_uc010eyk.1_Silent_p.P566P|GPR113_uc002rhc.1_Silent_p.P368P|GPR113_uc002rhd.1_Non-coding_Transcript	NM_001145168	NP_001138640	Q8IZF5	GP113_HUMAN	Homo sapiens G protein-coupled receptor 113 (GPR113), transcript variant 1, mRNA.	765					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGGGTTCTTCCGGAACAGTGT	0.627000														87			17		0	0	0.006122	0	0
MTUS2	23281	broad.mit.edu	37	13	29599843	29599843	+	Silent	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr13:29599843G>A	uc001usl.4	+	0	1096	c.1038G>A	c.(1036-1038)aaG>aaA	p.K346K		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	336						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GATGCCACAAGGAAGAGAATC	0.562000														56			11		0	0	0.000978	0	0
ZAN	7455	broad.mit.edu	37	7	100377181	100377181	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr7:100377181C>T	uc003uwj.3	+	35	6593	c.6428C>T	c.(6427-6429)gCg>gTg	p.A2143V	ZAN_uc003uwk.3_Missense_Mutation_p.A2143V|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kke.2_Missense_Mutation_p.A231V	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	2144	VWFD 3.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGCGAGGCAGCGCTCCGGGCT	0.642000														8			8		0	0	0.003080	0	0
COL1A1	1277	broad.mit.edu	37	17	48274392	48274392	+	Silent	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr17:48274392G>A	uc002iqm.3	-	10	909	c.783C>T	c.(781-783)ctC>ctT	p.L261L		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	261	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	TCATTCCAGGGAGGCCAGCTG	0.527000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							63			11		0	0	0.001855	0	0
PRB4	5545	broad.mit.edu	37	12	11461474	11461474	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr12:11461474C>T	uc001qzf.1	-	2	477	c.443G>A	c.(442-444)gGa>gAa	p.G148E	PRB4_uc001qzt.3_Missense_Mutation_p.G148E	NM_002723	NP_002714	P10163	PRB4_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 4 (PRB4), mRNA.	211	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.		Missing (in allele M and allele S).			extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						CTGGTTACCTCCTTGTGGGGG	0.607000										HNSCC(22;0.051)				229			36		0	0	0.004878	0	0
ZNF48	197407	broad.mit.edu	37	16	30409290	30409290	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr16:30409290G>A	uc002dya.2	+	1	1095	c.719G>A	c.(718-720)cGg>cAg	p.R240Q	ZNF48_uc021tgi.1_Missense_Mutation_p.R240Q|ZNF48_uc021tgj.1_Missense_Mutation_p.R117Q|ZNF48_uc021tgk.1_Missense_Mutation_p.R240Q	NM_152652	NP_001201836	Q96MX3	ZNF48_HUMAN	Homo sapiens zinc finger protein 48 (ZNF48), transcript variant 1, mRNA.	240					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						AAGCACCAGCGGACACACCGG	0.657000														41			13		0	0	0.001368	0	0
C18orf8	29919	broad.mit.edu	37	18	21109178	21109178	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr18:21109178C>T	uc021uie.1	+	14	1453	c.1332C>T	c.(1330-1332)ctC>ctT	p.L444L	C18orf8_uc010xay.2_Silent_p.L68L|NPC1_uc010dlu.1_Non-coding_Transcript	NM_013326	NP_037458	Q96DM3	MIC1_HUMAN	Homo sapiens chromosome 18 open reading frame 8 (C18orf8), mRNA.	444										endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GCAGCCCGCTCCTCAAGAGGC	0.552000														70			15		0	0	0.004007	0	0
ZNF300	91975	broad.mit.edu	37	5	150278038	150278038	+	Silent	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr5:150278038G>A	uc021yfx.1	-	4	570	c.142C>T	c.(142-144)Ctg>Ttg	p.L48L	ZNF300_uc021yfy.1_Silent_p.L32L|ZNF300_uc021yfz.1_5'UTR	NM_001172831	NP_001166303	Q96RE9	ZN300_HUMAN	Homo sapiens zinc finger protein 300 (ZNF300), transcript variant 1, mRNA.	32	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCCTGTACAGGGTCCTCTGA	0.488000														76			22		0	0	0.002299	0	0
FAM13A	10144	broad.mit.edu	37	4	89671660	89671660	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr4:89671660G>A	uc003hse.1	-	14	2063	c.1855C>T	c.(1855-1857)Cgg>Tgg	p.R619W	FAM13A_uc003hsa.1_Missense_Mutation_p.R90W|FAM13A_uc003hsb.1_Missense_Mutation_p.R293W|FAM13A_uc003hsd.1_Missense_Mutation_p.R293W|FAM13A_uc003hsc.1_Missense_Mutation_p.R279W|FAM13A_uc011cdq.1_Missense_Mutation_p.R265W|FAM13A_uc003hsf.1_Missense_Mutation_p.R205W|FAM13A_uc003hsg.1_Missense_Mutation_p.R90W|FAM13A_uc010ikr.1_Missense_Mutation_p.R115W	NM_014883	NP_055698	O94988	FA13A_HUMAN	Homo sapiens family with sequence similarity 13, member A (FAM13A), transcript variant 1, mRNA.	619					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						GCGTAGAACCGAGGAGAGAGC	0.572000														79			14		0	0	0.006122	0	0
TRIM24	8805	broad.mit.edu	37	7	138239559	138239559	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr7:138239559C>T	uc003vuc.3	+	8	1593	c.1378C>T	c.(1378-1380)Cca>Tca	p.P460S	TRIM24_uc003vub.3_Missense_Mutation_p.P460S|TRIM24_uc022amn.1_Missense_Mutation_p.P418S	NM_015905	NP_056989	O15164	TIF1A_HUMAN	Homo sapiens tripartite motif containing 24 (TRIM24), transcript variant 1, mRNA.	460					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						ATCCAAGTTCCCAACACAGAT	0.498000														94			9		0	0	0.004482	0	0
CEP95	90799	broad.mit.edu	37	17	62506306	62506306	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr17:62506306C>T	uc002jem.3	+	2	222	c.164C>T	c.(163-165)cCt>cTt	p.P55L	CEP95_uc002jen.3_Non-coding_Transcript|CEP95_uc010wqb.2_5'UTR	NM_138363	NP_612372	Q96GE4	CEP95_HUMAN	Homo sapiens centrosomal protein 95kDa (CEP95), mRNA.	55						centrosome|spindle pole	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						ATAGTTATTCCTAGGAGTCAA	0.418000														18			3		0	0	0.004672	0	0
abParts	0	broad.mit.edu	37	14	106725418	106725418	+	RNA	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr14:106725418C>T	uc021ser.1	-	927		c.22094G>A								Parts of antibodies, mostly variable regions.																		AAAGGTGAATCCAGAGGCTGC	0.577000														238			21		0	0	0.001882	0	0
FGFBP1	9982	broad.mit.edu	37	4	15937978	15937978	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr4:15937978G>A	uc003gom.3	-	2	573	c.278C>T	c.(277-279)tCc>tTc	p.S93F	FGFBP1_uc021xml.1_Missense_Mutation_p.S93F	NM_005130	NP_005121	Q14512	FGFP1_HUMAN	Homo sapiens fibroblast growth factor binding protein 1 (FGFBP1), mRNA.	93					cell-cell signaling|negative regulation of cell proliferation|signal transduction	extracellular space|plasma membrane	heparin binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1)	10						AAAGACACAGGAAAATTCATG	0.488000														68			15		0	0	0.003163	0	0
EVPL	2125	broad.mit.edu	37	17	74006381	74006381	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr17:74006381C>T	uc010wss.1	-	21	3199	c.2971G>A	c.(2971-2973)Gag>Aag	p.E991K	EVPL_uc002jqi.2_Missense_Mutation_p.E969K|EVPL_uc010wst.1_Missense_Mutation_p.E439K	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	969	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						AGGCTGCCCTCCAGCTGGGGG	0.672000														39			11		0	0	0.008291	0	0
ASH2L	9070	broad.mit.edu	37	8	37964684	37964684	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr8:37964684C>T	uc003xkt.4	+	3	459	c.401_splice	c.e3+1	p.S134_splice	ASH2L_uc011lbk.2_Intron|ASH2L_uc003xku.4_Splice_Site_p.S40_splice|ASH2L_uc010lwa.3_Splice_Site_p.S40_splice	NM_004674	NP_004665	Q9UBL3	ASH2L_HUMAN	Homo sapiens ash2 (absent, small, or homeotic)-like (Drosophila) (ASH2L), transcript variant 1, mRNA.	134					hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				ATAGATACCTCGTGAGTACTT	0.408000														63			9		0	0	0.008291	0	0
FUK	197258	broad.mit.edu	37	16	70502815	70502815	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr16:70502815C>T	uc010cft.3	+	8	881	c.823C>T	c.(823-825)Ccg>Tcg	p.P275S	FUK_uc002eyy.3_Missense_Mutation_p.P243S|FUK_uc002eyz.3_5'UTR	NM_145059	NP_659496	Q8N0W3	FUK_HUMAN	Homo sapiens fucokinase (FUK), mRNA.	243						cytoplasm	ATP binding|fucokinase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				CCACGTGAGCCCGCCCCTGGA	0.662000														83			18		0	0	0.007413	0	0
NPR2	4882	broad.mit.edu	37	9	35800785	35800785	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr9:35800785C>T	uc003zyd.3	+	5	1298	c.1298C>T	c.(1297-1299)cCc>cTc	p.P433L	NPR2_uc010mlb.3_Missense_Mutation_p.P433L	NM_003995	NP_003986	P20594	ANPRB_HUMAN	Homo sapiens natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) (NPR2), mRNA.	433					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	GGGGCTCCTCCCTCGGACAAT	0.577000														50			9		0	0	0.004482	0	0
IFNA21	3452	broad.mit.edu	37	9	21166123	21166123	+	Silent	SNP	G	A	A	rs1053887		TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr9:21166123G>A	uc003zom.2	-	0	537	c.489C>T	c.(487-489)gcC>gcT	p.A163A		NM_002175	NP_002166	P01568	IFN21_HUMAN	Homo sapiens interferon, alpha 21 (IFNA21), mRNA.	163					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	p.A163S(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CAACCTCCCAGGCACAAGGGC	0.403000														220			41		0	0	0.003214	0	0
CENPF	1063	broad.mit.edu	37	1	214818462	214818462	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr1:214818462C>T	uc001hkm.3	+	12	5723	c.5549C>T	c.(5548-5550)tCt>tTt	p.S1850F		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	1946					DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GAATATTTTTCTTGTGATCAC	0.338000														26			4		0	0	0.000248	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110487454	110487454	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr8:110487454C>T	uc003yne.3	+	50	8817	c.8713C>T	c.(8713-8715)Cac>Tac	p.H2905Y		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2905					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGGTGTGGATCACATAACCAA	0.333000										HNSCC(38;0.096)				27			5		0	0	0.000602	0	0
OR1C1	26188	broad.mit.edu	37	1	247921374	247921374	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr1:247921374C>T	uc010pza.2	-	0	335	c.335G>A	c.(334-336)aGc>aAc	p.S112N		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily C, member 1 (OR1C1), mRNA.	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CAGAAGGAGGCTGTCCATATT	0.478000														50			5		0	0	0.000602	0	0
TRHDE	29953	broad.mit.edu	37	12	73046174	73046174	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr12:73046174C>T	uc001sxa.3	+	15	2643	c.2613C>T	c.(2611-2613)ttC>ttT	p.F871F		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	871					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TCTGGGAATTCATATGGATGA	0.388000														54			14		0	0	0.002450	0	0
THSD7B	80731	broad.mit.edu	37	2	137917931	137917931	+	Silent	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr2:137917931G>A	uc002tva.1	+	4	1425	c.1425G>A	c.(1423-1425)ggG>ggA	p.G475G	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Silent_p.G365G	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ATCCTCAGGGGAAAAAAGGTG	0.468000														31			14		0	0	0.002450	0	0
INHBA	3624	broad.mit.edu	37	7	41739902	41739902	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr7:41739902G>A	uc003thq.3	-	0	306	c.71C>T	c.(70-72)cCa>cTa	p.P24L	INHBA-AS1_uc003tht.4_Intron|INHBA_uc003thr.3_Missense_Mutation_p.P24L|INHBA-AS1_uc003ths.2_Intron	NM_002192	NP_002183	P08476	INHBA_HUMAN	Homo sapiens inhibin, beta A (INHBA), mRNA.	24					G1/S transition of mitotic cell cycle|cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CTCGGATCCTGGGGTGGGGGA	0.592000										TSP Lung(11;0.080)				172			33		0	0	0.003271	0	0
PRSS58	136541	broad.mit.edu	37	7	141952060	141952060	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr7:141952060T>A	uc003vxb.3	-	4	1027	c.707A>T	c.(706-708)aAt>aTt	p.N236I	PRSS58_uc003vxc.4_Missense_Mutation_p.N236I	NM_001001317	NP_001001317	Q8IYP2	PRS58_HUMAN	Homo sapiens protease, serine, 58 (PRSS58), mRNA.	236	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						TTGGATTACATTTTCAATCCA	0.393000														19			3		0	0	0.000248	0	0
IGSF9	57549	broad.mit.edu	37	1	159897643	159897643	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr1:159897643C>T	uc001fur.2	-	19	3463	c.3265G>A	c.(3265-3267)Gac>Aac	p.D1089N	IGSF9_uc001fuq.2_Missense_Mutation_p.D1073N|TAGLN2_uc001fun.1_5'Flank|TAGLN2_uc010piy.1_5'Flank|IGSF9_uc001fup.2_Missense_Mutation_p.D235N	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	Homo sapiens immunoglobulin superfamily, member 9 (IGSF9), transcript variant 1, mRNA.	1089						cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			AATTCTGAGTCCCACTCATAG	0.493000														30			15		0	0	0.004007	0	0
PARN	5073	broad.mit.edu	37	16	14645907	14645907	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr16:14645907G>T	uc010uzd.2	-	20	1597	c.1451C>A	c.(1450-1452)tCc>tAc	p.S484Y	PARN_uc010uzc.2_Missense_Mutation_p.S423Y|PARN_uc010uze.2_Missense_Mutation_p.S438Y|PARN_uc010uzf.2_Missense_Mutation_p.S309Y	NM_002582	NP_001127949	O95453	PARN_HUMAN	Homo sapiens poly(A)-specific ribonuclease (PARN), transcript variant 1, mRNA.	484					RNA modification|female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleolus	mRNA 3'-UTR binding|metal ion binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						CTGGCTAAGGGAAACAAATGC	0.403000														176			40		1.30475e-32	1.90731e-32	0.002222	1	0
PRPF31	26121	broad.mit.edu	37	19	54627239	54627239	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr19:54627239C>T	uc002qdh.2	+	6	1035	c.639C>T	c.(637-639)tcC>tcT	p.S213S	PRPF31_uc010yek.1_Silent_p.S213S|PRPF31_uc021vbi.1_Silent_p.S213S	NM_015629	NP_056444	Q8WWY3	PRP31_HUMAN	Homo sapiens PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae) (PRPF31), mRNA.	213	Nop.				assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP|nuclear speck	RNA binding|snRNP binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCCGGATGTCCTTCATCGCAC	0.642000														42			11		0	0	0.008291	0	0
ABCC8	6833	broad.mit.edu	37	11	17438482	17438482	+	Silent	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr11:17438482G>A	uc001mnc.3	-	16	2376	c.2250C>T	c.(2248-2250)gaC>gaT	p.D750D		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	750	ABC transporter 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	TGTACCTGGGGTCCTCTCCTA	0.562000														280			53		0	0	0.003610	0	0
LRP1B	53353	broad.mit.edu	37	2	141283912	141283912	+	Silent	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr2:141283912G>A	uc002tvj.1	-	47	8742	c.7770C>T	c.(7768-7770)acC>acT	p.T2590T		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2590	LDL-receptor class A 13.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCGTGGCACAGGTTGAAACTA	0.368000										TSP Lung(27;0.18)				42			7		0	0	0.001984	0	0
LUC7L2	51631	broad.mit.edu	37	7	139092034	139092034	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr7:139092034C>T	uc011kqt.2	+	6	1057	c.823C>T	c.(823-825)Cat>Tat	p.H275Y	LUC7L2_uc011kqs.2_Missense_Mutation_p.H206Y|LUC7L2_uc003vuy.3_Missense_Mutation_p.H208Y|LUC7L2_uc003vux.3_Missense_Mutation_p.H209Y|LUC7L2_uc003vuz.1_Missense_Mutation_p.H156Y|LUC7L2_uc003vva.3_Missense_Mutation_p.H156Y	NM_001244584	NP_001231513	Q9Y383	LC7L2_HUMAN	Homo sapiens LUC7-like 2 (S. cerevisiae) (LUC7L2), transcript variant 2, mRNA.	209	Arg/Ser-rich.						enzyme binding|metal ion binding			NS(2)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	16	Melanoma(164;0.242)					ACTGGCTGATCATTTTGGGGG	0.398000														57			11		0	0	0.001855	0	0
DGKK	139189	broad.mit.edu	37	X	50111995	50111995	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chrX:50111995G>A	uc010njr.2	-	28	3783	c.3739C>T	c.(3739-3741)Cgt>Tgt	p.R1247C		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	Homo sapiens diacylglycerol kinase, kappa (DGKK), mRNA.	1254	Required for localization to the plasma membrane.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TCATCTTCACGATGTCTGCGG	0.423000														20			11		0	0	0.000978	0	0
IL37	27178	broad.mit.edu	37	2	113674714	113674714	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr2:113674714G>A	uc002tij.3	+	2	196	c.154G>A	c.(154-156)Gtg>Atg	p.V52M	IL37_uc002tim.3_Intron|IL37_uc002tik.3_Missense_Mutation_p.V31M|IL37_uc002til.3_Intron|IL37_uc002tin.3_Missense_Mutation_p.V26M	NM_014439	NP_055254	Q9NZH6	IL37_HUMAN	Homo sapiens interleukin 37 (IL37), transcript variant 1, mRNA.	52					immune response	cytosol|extracellular space|nucleus	cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						AGGTCCAAAGGTGAAGAACTT	0.453000														42			7		0	0	0.003080	0	0
PXDNL	137902	broad.mit.edu	37	8	52252213	52252213	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr8:52252213G>A	uc003xqu.4	-	20	4218	c.4117C>T	c.(4117-4119)Cag>Tag	p.Q1373*	PXDNL_uc003xqt.4_Intron	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	1373					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				ATGGTTTCCTGAATTTCCGCT	0.378000														90			9		0	0	0.006214	0	0
CARD9	64170	broad.mit.edu	37	9	139265127	139265127	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr9:139265127C>T	uc022bpp.1	-	4	820	c.654G>A	c.(652-654)atG>atA	p.M218I	CARD9_uc004chg.3_Missense_Mutation_p.M218I|CARD9_uc022bpo.1_Missense_Mutation_p.M218I|CARD9_uc011mdx.1_Missense_Mutation_p.M114I|CARD9_uc010nbj.2_3'UTR	NM_052814	NP_434701	Q9H257	CARD9_HUMAN	Homo sapiens caspase recruitment domain family, member 9 (CARD9), transcript variant 2, mRNA.	218					positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		CCTCGGCCTTCATGAGGCTGT	0.672000														54			12		0	0	0.001855	0	0
ZDHHC6	64429	broad.mit.edu	37	10	114205034	114205034	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr10:114205034C>T	uc001kzv.3	-	1	585	c.161G>A	c.(160-162)gGa>gAa	p.G54E	VTI1A_uc001kzy.3_5'Flank|VTI1A_uc001kzz.3_5'Flank|ZDHHC6_uc001kzw.3_Missense_Mutation_p.G54E|ZDHHC6_uc009xya.1_Missense_Mutation_p.G54E|VTI1A_uc001kzx.3_5'Flank	NM_022494	NP_071939	Q9H6R6	ZDHC6_HUMAN	Homo sapiens zinc finger, DHHC-type containing 6 (ZDHHC6), mRNA.	54						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		ATTCACACTTCCTCCAGTTGT	0.443000														32			7		0	0	0.004482	0	0
FAM47C	442444	broad.mit.edu	37	X	37029243	37029243	+	Silent	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chrX:37029243G>A	uc004ddl.2	+	0	2812	c.2760G>A	c.(2758-2760)ggG>ggA	p.G920G		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	920										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						ACTTGGACGGGAAAATCCAGA	0.453000														35			13		0	0	0.002450	0	0
GOLGA6L5	374650	broad.mit.edu	37	15	85055968	85055968	+	RNA	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr15:85055968C>T	uc002bkm.2	-	5		c.592G>A								Homo sapiens golgin A6 family-like 5 (pseudogene) (GOLGA6L5), non-coding RNA.																		GAGCTGTCTTCCCACACTCTC	0.552000														6			4		0	0	0.000248	0	0
FCRL6	343413	broad.mit.edu	37	1	159785421	159785421	+	Silent	SNP	C	T	T	rs147129045	byFrequency	TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr1:159785421C>T	uc001fud.4	+	9	1317	c.1275C>T	c.(1273-1275)ccC>ccT	p.P425P	FCRL6_uc001fuc.2_3'UTR|FCRL6_uc009wsz.1_3'UTR|FCRL6_uc009wta.3_3'UTR	NM_001004310	NP_001004310	Q6DN72	FCRL6_HUMAN	Homo sapiens Fc receptor-like 6 (FCRL6), mRNA.	425						integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					TCCAAGAACCCCTTAGCGACT	0.552000														69			32		0	0	0.002096	0	0
PDE4C	5143	broad.mit.edu	37	19	18324191	18324191	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr19:18324191G>A	uc010xqc.2	-	12	2075	c.1595C>T	c.(1594-1596)tCc>tTc	p.S532F	PDE4C_uc002nik.4_Missense_Mutation_p.S532F|PDE4C_uc002nil.4_Missense_Mutation_p.S532F|PDE4C_uc002nig.4_Missense_Mutation_p.S247F|PDE4C_uc002nih.4_Missense_Mutation_p.S302F|PDE4C_uc010ebk.3_Missense_Mutation_p.S426F|PDE4C_uc002nii.4_Missense_Mutation_p.S500F|PDE4C_uc002nif.4_Missense_Mutation_p.S301F|PDE4C_uc010ebl.3_Missense_Mutation_p.S246F	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	Homo sapiens phosphodiesterase 4C, cAMP-specific (PDE4C), transcript variant 2, mRNA.	532					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	GATTCGGTCGGAATAGTTGTC	0.433000														24			6		0	0	0.001984	0	0
KRT78	196374	broad.mit.edu	37	12	53237993	53237993	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr12:53237993G>A	uc001sbc.1	-	5	995	c.931C>T	c.(931-933)Ctt>Ttt	p.L311F		NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN	Homo sapiens keratin 78 (KRT78), mRNA.	311	Coil 2.|Rod.					keratin filament	protein binding|structural molecule activity	p.E310*(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						GACACCTGAAGTTCCTGGTAC	0.512000														96			27		0	0	0.005443	0	0
TSGA10	80705	broad.mit.edu	37	2	99614663	99614663	+	Silent	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr2:99614663G>A	uc002szg.4	-	18	2722	c.2094C>T	c.(2092-2094)ttC>ttT	p.F698F	TSGA10_uc002szh.4_Silent_p.F698F|TSGA10_uc002szi.4_Silent_p.F698F|TSGA10_uc010fin.1_Silent_p.F698F	NM_182911	NP_878915	Q9BZW7	TSG10_HUMAN	Homo sapiens testis specific, 10 (TSGA10), transcript variant 2, mRNA.	698					spermatogenesis	cytoplasm|nuclear membrane				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						TCAGGTGTCAGAAATCTCTGT	0.284000														61			13		0	0	0.001855	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14439185	14439185	+	RNA	SNP	C	A	A	rs112098339		TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr21:14439185C>A	uc002yja.4	+	9		c.2703C>A								Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		TGACTTTAAACCAAGAAGAAG	0.269000														46			6		0.00198382	0.00282631	0.001984	1	0
ANXA2	302	broad.mit.edu	37	15	60653146	60653146	+	Silent	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr15:60653146G>A	uc002agm.3	-	4	478	c.405C>T	c.(403-405)tcC>tcT	p.S135S	ANXA2_uc002agk.3_Silent_p.S117S|ANXA2_uc002agn.3_Silent_p.S117S|ANXA2_uc002agl.3_Silent_p.S117S|ANXA2_uc010uhd.2_Non-coding_Transcript|ANXA2_uc010bgj.3_Silent_p.S117S	NM_001002858	NP_001002858	P07355	ANXA2_HUMAN	Homo sapiens annexin A2 (ANXA2), transcript variant 1, mRNA.	117					angiogenesis|positive regulation of vesicle fusion|skeletal system development	basement membrane|melanosome|midbody|soluble fraction	calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity			kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9					Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031)	TTACCTTCATGGAAGCTTTTA	0.413000														49			7		0	0	0.003080	0	0
INS-IGF2	723961	broad.mit.edu	37	11	2170458	2170458	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr11:2170458G>A	uc001lvm.3	-	2	364	c.305C>T	c.(304-306)tCg>tTg	p.S102L	IGF2_uc001lvh.3_5'UTR|IGF2_uc001lvi.3_Non-coding_Transcript	NM_001042376	NP_001035835	Q1WM24	Q1WM24_HUMAN	Homo sapiens INS-IGF2 readthrough (INS-IGF2), transcript variant 2, mRNA.	102					glucose metabolic process	extracellular region	hormone activity			haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	5		all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156)		CTGCCTGGACGATGATCCGCC	0.627000														124			12		0	0	0.001368	0	0
NONO	4841	broad.mit.edu	37	X	70511697	70511697	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chrX:70511697C>T	uc004dzo.3	+	4	933	c.223C>T	c.(223-225)Cgt>Tgt	p.R75C	BCYRN1_uc011mpt.1_Intron|NONO_uc004dzn.3_Missense_Mutation_p.R75C|NONO_uc004dzp.3_Missense_Mutation_p.R75C|NONO_uc011mpv.2_5'UTR|NONO_uc004dzq.3_5'Flank	NM_001145408	NP_001138882	Q15233	NONO_HUMAN	Homo sapiens non-POU domain containing, octamer-binding (NONO), transcript variant 1, mRNA.	75	DBHS.|RRM 1.				DNA recombination|DNA repair|RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|RNA binding|identical protein binding|nucleotide binding	p.R75S(2)	NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					CCAACGAAGCCGTCTTTTTGT	0.418000			T	TFE3	papillary renal cancer									10			6		0	0	0.001168	0	0
USP25	29761	broad.mit.edu	37	21	17191160	17191160	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr21:17191160C>T	uc011aby.1	+	9	1292	c.1075C>T	c.(1075-1077)Caa>Taa	p.Q359*	USP25_uc002yjz.1_Nonsense_Mutation_p.Q359*|USP25_uc010gla.1_Intron|USP25_uc002yjy.1_Nonsense_Mutation_p.Q359*	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN	Homo sapiens ubiquitin specific peptidase 25 (USP25), mRNA.	359					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		AAAATCAGGCCAAGAGGTGAG	0.383000														111			27		0	0	0.005443	0	0
ANK3	288	broad.mit.edu	37	10	61834980	61834980	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr10:61834980G>A	uc001jky.3	-	36	5997	c.5659C>T	c.(5659-5661)Ctt>Ttt	p.L1887F	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1887	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GACAACTTAAGGGCAGAGGGT	0.433000														66			11		0	0	0.001368	0	0
FCGBP	8857	broad.mit.edu	37	19	40395990	40395990	+	Silent	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr19:40395990G>A	uc002omp.4	-	14	7415	c.7407C>T	c.(7405-7407)ttC>ttT	p.F2469F		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	2469	VWFD 6.					extracellular region	protein binding	p.R2468H(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCATGAAGTCGAAGCGGCGGC	0.672000														48			19		0	0	0.006122	0	0
WHSC1	7468	broad.mit.edu	37	4	1920068	1920068	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr4:1920068C>T	uc003gdz.4	+	4	1304	c.1128C>T	c.(1126-1128)tcC>tcT	p.S376S	WHSC1_uc003geb.4_Silent_p.S376S|WHSC1_uc003gec.4_Silent_p.S376S|WHSC1_uc003ged.4_Silent_p.S376S|WHSC1_uc003gee.4_Non-coding_Transcript|WHSC1_uc003gef.4_Non-coding_Transcript|WHSC1_uc003gdx.3_Silent_p.S376S|WHSC1_uc003gdy.1_Silent_p.S376S|WHSC1_uc010icd.1_Silent_p.S376S|WHSC1_uc003gea.1_Silent_p.S376S|WHSC1_uc010ice.1_Silent_p.S376S|WHSC1_uc003geh.1_Silent_p.S376S	NM_001042424	NP_579890	O96028	NSD2_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1 (WHSC1), transcript variant 10, mRNA.	376					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	p.S376Y(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		TGGCAGAATCCTCAGGAGTCA	0.517000			T	IGH@	MM									43			6		0	0	0.003080	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47533324	47533324	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr1:47533324C>T	uc001cqu.1	+	0	165	c.162C>T	c.(160-162)ttC>ttT	p.F54F		NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 1 (CYP4Z1), mRNA.	54						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						CCCACTGGTTCTATGGCCACA	0.488000														85			7		0	0	0.003080	0	0
OR52M1	119772	broad.mit.edu	37	11	4566909	4566909	+	Silent	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr11:4566909G>A	uc010qyf.2	+	0	489	c.489G>A	c.(487-489)ctG>ctA	p.L163L		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA.	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTCTGCCTCTGATGATCCGCC	0.537000														88			14		0	0	0.001855	0	0
HCN4	10021	broad.mit.edu	37	15	73616183	73616183	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr15:73616183C>T	uc002avp.3	-	7	3245	c.2251G>A	c.(2251-2253)Gag>Aag	p.E751K		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA.	751					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		TGGGCCATCTCCCGGTCATGC	0.627000														66			10		0	0	0.006214	0	0
PCDH18	54510	broad.mit.edu	37	4	138442743	138442743	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr4:138442743G>A	uc003ihe.4	-	3	3235	c.2848C>T	c.(2848-2850)Cca>Tca	p.P950S	PCDH18_uc003ihf.4_Missense_Mutation_p.P942S|PCDH18_uc011cgz.2_Missense_Mutation_p.P161S|PCDH18_uc003ihg.4_Missense_Mutation_p.P729S|PCDH18_uc011cha.2_Missense_Mutation_p.P130S	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	950	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TCTTCCCCTGGAATGAACATG	0.532000														121			19		0	0	0.008871	0	0
MET	4233	broad.mit.edu	37	7	116371770	116371770	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr7:116371770C>T	uc003vij.3	+	2	1436	c.1249C>T	c.(1249-1251)Cga>Tga	p.R417*	MET_uc022akk.1_Nonsense_Mutation_p.R417*|MET_uc010lkh.3_Nonsense_Mutation_p.R417*|MET_uc011knc.1_Nonsense_Mutation_p.R417*|MET_uc011knd.2_Nonsense_Mutation_p.R417*|MET_uc011knf.2_Nonsense_Mutation_p.R417*|MET_uc011kne.2_Nonsense_Mutation_p.R417*|MET_uc011kng.1_Nonsense_Mutation_p.R417*|MET_uc011knh.1_Nonsense_Mutation_p.R417*|MET_uc011kni.2_Nonsense_Mutation_p.R417*|MET_uc011knj.2_5'UTR|MET_uc010lkg.3_Nonsense_Mutation_p.R417*|MET_uc011kna.1_Nonsense_Mutation_p.R417*|MET_uc011knb.1_Nonsense_Mutation_p.R417*|U7_uc022akl.1_5'Flank	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	417	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TGATGAATATCGAACAGAGTT	0.418000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)					57			5		0	0	0.000602	0	0
SLC44A5	204962	broad.mit.edu	37	1	75684345	75684345	+	Silent	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr1:75684345G>A	uc010oqz.1	-	15	1542	c.1476C>T	c.(1474-1476)atC>atT	p.I492I	SLC44A5_uc001dgt.2_Silent_p.I453I|SLC44A5_uc001dgs.2_Silent_p.I411I|SLC44A5_uc001dgr.2_Silent_p.I411I|SLC44A5_uc001dgu.3_Silent_p.I453I|SLC44A5_uc010ora.2_Silent_p.I447I|SLC44A5_uc010orb.2_Silent_p.I323I	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN	Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA.	453						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						GGAAGGTAGGGATGTACTGAT	0.418000														47			14		0	0	0.002450	0	0
SEMA3G	56920	broad.mit.edu	37	3	52472117	52472117	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr3:52472117C>T	uc003dea.1	-	13	1608	c.1608G>A	c.(1606-1608)cgG>cgA	p.R536R		NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G (SEMA3G), mRNA.	536					multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		AGTATGGGTCCCGGGCCAGGC	0.657000														30			8		0	0	0.004482	0	0
DNMT3A	1788	broad.mit.edu	37	2	25463248	25463248	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr2:25463248G>A	uc002rgc.3	-	18	2502	c.2245C>T	c.(2245-2247)Cgc>Tgc	p.R749C	DNMT3A_uc002rgd.3_Missense_Mutation_p.R749C|DNMT3A_uc010eyi.3_Non-coding_Transcript|DNMT3A_uc002rgb.3_Missense_Mutation_p.R560C	NM_022552	NP_783328	Q9Y6K1	DNM3A_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 alpha (DNMT3A), transcript variant 3, mRNA.	749					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	p.R749C(4)|p.R749fs*29(1)|p.R749fs*30(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGAAGGGGCGATCATCTCCC	0.562000			"""Mis, F, N, S"""		AML									81			21		0	0	0.003330	0	0
CACNA1G	8913	broad.mit.edu	37	17	48652936	48652936	+	Silent	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr17:48652936G>A	uc002irk.1	+	7	1545	c.1173G>A	c.(1171-1173)ctG>ctA	p.L391L	CACNA1G_uc002iri.1_Silent_p.L391L|CACNA1G_uc002irj.1_Silent_p.L391L|CACNA1G_uc002irl.1_Silent_p.L391L|CACNA1G_uc002irm.1_Silent_p.L391L|CACNA1G_uc002irn.1_Silent_p.L391L|CACNA1G_uc002iro.1_Silent_p.L391L|CACNA1G_uc002irp.1_Silent_p.L391L|CACNA1G_uc002irq.1_Silent_p.L391L|CACNA1G_uc002irr.1_Silent_p.L391L|CACNA1G_uc002irs.1_Silent_p.L391L|CACNA1G_uc002irt.1_Silent_p.L391L|CACNA1G_uc002iru.1_Silent_p.L391L|CACNA1G_uc002irv.1_Silent_p.L391L|CACNA1G_uc002irw.1_Silent_p.L391L|CACNA1G_uc002irx.1_Silent_p.L304L|CACNA1G_uc002iry.1_Silent_p.L304L|CACNA1G_uc002isg.1_Silent_p.L304L|CACNA1G_uc002ish.1_Silent_p.L304L|CACNA1G_uc002isi.1_Silent_p.L304L|CACNA1G_uc002irz.1_Silent_p.L304L|CACNA1G_uc002isa.1_Silent_p.L304L|CACNA1G_uc002isd.1_Silent_p.L304L|CACNA1G_uc002isb.1_Silent_p.L304L|CACNA1G_uc002isc.1_Silent_p.L304L|CACNA1G_uc002ise.1_Silent_p.L304L|CACNA1G_uc002isf.1_Silent_p.L304L	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	391					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	ACCTGTGCCTGGTGGTGATTG	0.567000														26			5		0	0	0.001984	0	0
PIGB	9488	broad.mit.edu	37	15	55626105	55626105	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr15:55626105C>T	uc002act.3	+	5	1010	c.694C>T	c.(694-696)Cgt>Tgt	p.R232C	PIGB_uc010ugg.2_Missense_Mutation_p.R37C	NM_004855	NP_004846	Q92521	PIGB_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class B (PIGB), mRNA.	232					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		CTTCATAATTCGTCCCACAGC	0.383000														30			5		0	0	0.001168	0	0
PABPN1L	390748	broad.mit.edu	37	16	88932262	88932262	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr16:88932262C>T	uc002fmj.3	-	1	397	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	PABPN1L_uc010vpd.2_Missense_Mutation_p.E115K|PABPN1L_uc010vpe.2_Missense_Mutation_p.E115K|PABPN1L_uc002fmi.3_Missense_Mutation_p.E115K			A6NDY0	EPAB2_HUMAN	Homo sapiens poly(A) binding protein, nuclear 1-like (cytoplasmic) (PABPN1L), mRNA.	115						cytoplasm	RNA binding|nucleotide binding			kidney(1)	1						CCCTCCTCTTCCTCGGCCTGT	0.672000														16			5		0	0	0.001168	0	0
REST	5978	broad.mit.edu	37	4	57777040	57777040	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr4:57777040T>C	uc003hch.3	+	1	583	c.236T>C	c.(235-237)gTt>gCt	p.V79A	REST_uc003hci.3_Missense_Mutation_p.V79A|REST_uc003hcj.1_Missense_Mutation_p.V79A|REST_uc010ihf.3_5'UTR	NM_005612	NP_005603	Q13127	REST_HUMAN	Homo sapiens RE1-silencing transcription factor (REST), transcript variant 1, mRNA.	79	Interaction with SIN3A.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					CTGATGCCGGTTGGGGATAAC	0.448000														48			7		0	0	0.003080	0	0
OR6C1	390321	broad.mit.edu	37	12	55714515	55714515	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr12:55714515C>T	uc010spi.2	+	0	132	c.132C>T	c.(130-132)atC>atT	p.I44I		NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 1 (OR6C1), mRNA.	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L43I(2)|p.I44I(2)		endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						TGACCCTTATCACAATTACCC	0.433000														35			9		0	0	0.006214	0	0
STK11IP	114790	broad.mit.edu	37	2	220466125	220466125	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr2:220466125T>C	uc002vml.3	+	2	306	c.263T>C	c.(262-264)tTt>tCt	p.F88S	STK11IP_uc010zlj.2_Missense_Mutation_p.F77S|STK11IP_uc010zlk.2_Missense_Mutation_p.F77S|STK11IP_uc010zll.2_Missense_Mutation_p.F77S|STK11IP_uc002vmm.1_Missense_Mutation_p.F77S	NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN	Homo sapiens serine/threonine kinase 11 interacting protein (STK11IP), mRNA.	88					protein localization	cytoplasm	protein kinase binding	p.L88L(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGCTTCAGTTTCTCTTCGAT	0.552000														37			9		0	0	0.006214	0	0
CCDC171	203238	broad.mit.edu	37	9	15777607	15777607	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr9:15777607C>T	uc011lmu.2	+	17	2816	c.2705C>T	c.(2704-2706)tCc>tTc	p.S902F	CCDC171_uc003zmd.3_Missense_Mutation_p.S894F|CCDC171_uc003zme.3_Missense_Mutation_p.S809F|CCDC171_uc003zmf.1_Missense_Mutation_p.S202F	NM_173550	NP_775821	Q6TFL3	CI093_HUMAN	Homo sapiens chromosome 9 open reading frame 93 (C9orf93), mRNA.	894																	GATCCAAATTCCAGAATTTGT	0.323000														33			4		0	0	0.000248	0	0
CLDN4	1364	broad.mit.edu	37	7	73245960	73245960	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr7:73245960C>T	uc003tzi.4	+	0	768	c.429C>T	c.(427-429)atC>atT	p.I143I	CLDN4_uc003tzh.1_Non-coding_Transcript	NM_001305	NP_001296	O14493	CLD4_HUMAN	Homo sapiens claudin 4 (CLDN4), mRNA.	143					calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity			kidney(2)|lung(4)|urinary_tract(1)	7		Lung NSC(55;0.159)				CCCACAACATCATCCAAGACT	0.632000														39			7		0	0	0.003080	0	0
RHBDF1	64285	broad.mit.edu	37	16	112591	112591	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr16:112591C>T	uc002cfl.4	-	6	1041	c.898G>A	c.(898-900)Gac>Aac	p.D300N	RHBDF1_uc010uty.2_Missense_Mutation_p.D323N|RHBDF1_uc010utz.2_Missense_Mutation_p.D300N|RHBDF1_uc010bqo.1_Non-coding_Transcript	NM_022450	NP_071895	Q96CC6	RHDF1_HUMAN	Homo sapiens rhomboid 5 homolog 1 (Drosophila) (RHBDF1), mRNA.	300					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				CCGGTGAGGTCCGCCTGCTCC	0.647000														163			26		0	0	0.008361	0	0
IGFN1	91156	broad.mit.edu	37	1	201195175	201195175	+	Silent	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr1:201195175G>A	uc001gwc.3	+	21	10840	c.10710G>A	c.(10708-10710)agG>agA	p.R3570R	IGFN1_uc001gwb.3_Non-coding_Transcript	NM_001164586	NP_001158058			Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA.											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						ACCACTTCAGGGTGGTGGCCA	0.677000														34			11		0	0	0.001855	0	0
TSKS	60385	broad.mit.edu	37	19	50251366	50251366	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr19:50251366C>T	uc002ppm.3	-	3	566	c.555G>A	c.(553-555)ttG>ttA	p.L185L		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	Homo sapiens testis-specific serine kinase substrate (TSKS), mRNA.	185							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		AGTACCCCTCCAACTCTTCTG	0.567000														104			13		0	0	0.002450	0	0
NCK2	8440	broad.mit.edu	37	2	106498412	106498412	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr2:106498412G>T	uc002tdg.3	+	3	1131	c.855G>T	c.(853-855)tgG>tgT	p.W285C	NCK2_uc002tdh.3_Intron|NCK2_uc002tdi.3_Missense_Mutation_p.W285C	NM_003581	NP_003572	O43639	NCK2_HUMAN	Homo sapiens NCK adaptor protein 2 (NCK2), transcript variant 1, mRNA.	285	SH2.				T cell activation|axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity			endometrium(1)|lung(3)|ovary(1)	5						GCAGAGAGTGGTACTACGGGA	0.677000														43			10		2.74318e-10	3.98777e-10	0.006214	1	0
RBP3	5949	broad.mit.edu	37	10	48381932	48381932	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr10:48381932C>T	uc001jez.3	-	3	3831	c.3717G>A	c.(3715-3717)cgG>cgA	p.R1239R		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	1239					lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GGCCTGGGCTCCGCTTCACCC	0.647000														26			4		0	0	0.000248	0	0
PCDH15	65217	broad.mit.edu	37	10	55569273	55569273	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr10:55569273C>T	uc021pqw.1	-	35	4941	c.4546G>A	c.(4546-4548)Gaa>Aaa	p.E1516K	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_Silent_p.L1529L|PCDH15_uc010qht.2_Missense_Mutation_p.E1511K|PCDH15_uc021pqx.1_Silent_p.L1527L	NM_001142769	NP_001136241	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant I, mRNA.	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCTCTAATTTCAACCTTTGGT	0.403000										HNSCC(58;0.16)				181			17		0	0	0.008871	0	0
HAVCR2	84868	broad.mit.edu	37	5	156533857	156533857	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr5:156533857G>A	uc003lwk.2	-	1	429	c.175C>T	c.(175-177)Cct>Tct	p.P59S	HAVCR2_uc003lwl.3_Missense_Mutation_p.P59S	NM_032782	NP_116171	Q8TDQ0	HAVR2_HUMAN	Homo sapiens hepatitis A virus cellular receptor 2 (HAVCR2), mRNA.	59	Ig-like V-type.					integral to membrane				cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCAAACACAGGACAGGCTCCT	0.547000														589			84		0	0	0.003610	0	0
DSCAM	1826	broad.mit.edu	37	21	41719715	41719715	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr21:41719715C>T	uc002yyq.1	-	5	1544	c.1092G>A	c.(1090-1092)ggG>ggA	p.G364G	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	364	Ig-like C2-type 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CGTGGTTGATCCCTGTGATCC	0.502000														228			57		0	0	0.003610	0	0
STK31	56164	broad.mit.edu	37	7	23830462	23830462	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr7:23830462A>G	uc003sws.4	+	21	2724	c.2657A>G	c.(2656-2658)aAc>aGc	p.N886S	STK31_uc003swt.4_Missense_Mutation_p.N863S|STK31_uc011jze.2_Missense_Mutation_p.N886S|STK31_uc010kuq.3_Missense_Mutation_p.N863S|STK31_uc003swv.1_Missense_Mutation_p.N52S	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	886	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GCCTCGGTGAACATGATGGTT	0.393000														37			7		0	0	0.003080	0	0
AGAP2	116986	broad.mit.edu	37	12	58125225	58125225	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr12:58125225G>T	uc001spq.3	-	9	2069	c.2069C>A	c.(2068-2070)tCc>tAc	p.S690Y	AGAP2_uc001spp.3_Missense_Mutation_p.S690Y|AGAP2_uc001spr.3_Missense_Mutation_p.S354Y	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 (AGAP2), transcript variant 1, mRNA.	690	PH.				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						TTTGTTCAAGGAATTGCCACT	0.483000														75			6		2.0095e-06	2.89973e-06	0.001984	1	0
FAM22G	441457	broad.mit.edu	37	9	99700263	99700263	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr9:99700263G>A	uc022bkp.1	+	5	1441	c.1420G>A	c.(1420-1422)Gaa>Aaa	p.E474K	FAM22G_uc004awq.2_Missense_Mutation_p.E474K	NM_001170741	NP_001164212	Q5VZR2	FA22G_HUMAN	Homo sapiens family with sequence similarity 22, member G (FAM22G), transcript variant 2, mRNA.	474										central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(5)|skin(2)|stomach(1)	17		Acute lymphoblastic leukemia(62;0.0527)				GGAGCAGGAGGAAGGACTCAC	0.607000														138			23		0	0	0.004656	0	0
MAN2B2	23324	broad.mit.edu	37	4	6588815	6588815	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr4:6588815C>T	uc003gjf.1	+	3	520	c.484C>T	c.(484-486)Cta>Tta	p.L162L	MAN2B2_uc003gje.1_Silent_p.L162L|MAN2B2_uc011bwf.1_Silent_p.L162L	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 2 (MAN2B2), mRNA.	162					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						GACGCCCACCCTATTTGCGCT	0.617000														38			10		0	0	0.008291	0	0
LOC650368	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr11:3427845C>T	uc010qxs.1	+	8		c.838C>T			LOC650368_uc001lxy.2_Non-coding_Transcript					Homo sapiens asparagine-linked glycosylation 1-like pseudogene (LOC650368), non-coding RNA.																		CTTCAAGTGGCAGGAGCAGAA	0.587000														33			7		0	0	0.001984	0	0
ACSF2	80221	broad.mit.edu	37	17	48538185	48538185	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr17:48538185C>T	uc010wmm.1	+	2	455	c.351C>T	c.(349-351)gtC>gtT	p.V117V	ACSF2_uc002iqu.2_Silent_p.V92V|ACSF2_uc010wml.1_Silent_p.V92V|ACSF2_uc010wmn.1_Silent_p.V92V|ACSF2_uc010wmo.1_Intron	NM_025149	NP_079425	Q96CM8	ACSF2_HUMAN	Homo sapiens acyl-CoA synthetase family member 2 (ACSF2), mRNA.	92					fatty acid metabolic process	mitochondrion	ATP binding|ligase activity			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			AGGCCTTGGTCGTCCTCCATG	0.562000														13			5		0	0	0.000602	0	0
SLC39A8	64116	broad.mit.edu	37	4	103188710	103188710	+	Silent	SNP	G	A	A	rs143526887	byFrequency	TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr4:103188710G>A	uc003hwb.1	-	6	1699	c.1170C>T	c.(1168-1170)ttC>ttT	p.F390F	SLC39A8_uc011ceo.1_Silent_p.F390F|SLC39A8_uc003hwa.1_Silent_p.F323F|SLC39A8_uc003hwc.2_Silent_p.F390F	NM_022154	NP_071437	Q9C0K1	S39A8_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 8 (SLC39A8), transcript variant 1, mRNA.	390						integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity	p.N389D(1)		large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		TATTTGGAGCGAAATTGTTGC	0.388000														35			8		0	0	0.004482	0	0
CRY1	1407	broad.mit.edu	37	12	107395556	107395556	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr12:107395556G>A	uc001tmi.3	-	3	1440	c.581C>T	c.(580-582)tCa>tTa	p.S194L		NM_004075	NP_004066	Q16526	CRY1_HUMAN	Homo sapiens cryptochrome 1 (photolyase-like) (CRY1), mRNA.	194					DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA photolyase activity|blue light photoreceptor activity|double-stranded DNA binding|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						CTCTTCCAGTGAAGGGACTCC	0.388000														106			23		0	0	0.003330	0	0
ACSS2	55902	broad.mit.edu	37	20	33500927	33500927	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr20:33500927C>T	uc010gey.2	+	2	524	c.403C>T	c.(403-405)Cag>Tag	p.Q135*	ACSS2_uc002xbc.2_Nonsense_Mutation_p.Q40*|ACSS2_uc010zum.1_Intron|ACSS2_uc002xbd.2_Nonsense_Mutation_p.Q135*|ACSS2_uc002xbe.2_Intron	NM_001076552	NP_001070020	Q9NR19	ACSA_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 2 (ACSS2), transcript variant 2, mRNA.	135					ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	ATP binding|acetate-CoA ligase activity|protein binding	p.Q135E(3)		cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GGAGACCACTCAGATCACATA	0.512000														132			68		0	0	0.003610	0	0
SCYL3	57147	broad.mit.edu	37	1	169823707	169823707	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr1:169823707G>A	uc001ggs.2	-	12	2071	c.1873C>T	c.(1873-1875)Ctt>Ttt	p.L625F	SCYL3_uc010plw.1_Missense_Mutation_p.L217F|SCYL3_uc001ggt.2_Missense_Mutation_p.L571F	NM_181093	NP_851607	Q8IZE3	PACE1_HUMAN	Homo sapiens SCY1-like 3 (S. cerevisiae) (SCYL3), transcript variant 2, mRNA.	625	Interaction with EZR.				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTTTGTACAAGGCTAATCTTT	0.473000														115			19		0	0	0.008871	0	0
DNAH5	1767	broad.mit.edu	37	5	13794105	13794105	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr5:13794105C>T	uc003jfd.2	-	47	7992	c.7950G>A	c.(7948-7950)aaG>aaA	p.K2650K		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2650	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAGTCATCTTCTTTCCCGCAG	0.358000									Kartagener syndrome					33			11		0	0	0.000978	0	0
MYLK	4638	broad.mit.edu	37	3	123457801	123457801	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr3:123457801C>T	uc003ego.3	-	6	813	c.531G>A	c.(529-531)atG>atA	p.M177I	MYLK_uc011bjw.2_Missense_Mutation_p.M177I|MYLK_uc003egp.3_Missense_Mutation_p.M177I|MYLK_uc003egq.3_Missense_Mutation_p.M177I|MYLK_uc003egr.3_Missense_Mutation_p.M177I|MYLK_uc003egs.3_Missense_Mutation_p.M1I|MYLK_uc010hrs.1_Missense_Mutation_p.M177I	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	177	Ig-like C2-type 2.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		AGAATCGTCCCATCTGTCCTT	0.577000														22			6		0	0	0.001984	0	0
NBPF10	100132406	broad.mit.edu	37	1	145296373	145296373	+	Missense_Mutation	SNP	G	T	T	rs3969711		TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr1:145296373G>T	uc021oul.1	+	2	330	c.295G>T	c.(295-297)Gtt>Ttt	p.V99F	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc021ouk.1_Missense_Mutation_p.V99F|NBPF10_uc001emq.1_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	99								p.V99F(2)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TAAAGTCCTAGTTCACTCTCA	0.473000														131			9		0.00448238	0.0063744	0.004482	1	0
CYTH3	9265	broad.mit.edu	37	7	6205223	6205223	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr7:6205223G>A	uc003spt.3	-	10	1029	c.925C>T	c.(925-927)Ccg>Tcg	p.P309S	CYTH3_uc011jws.2_Missense_Mutation_p.P224S	NM_004227	NP_004218	O43739	CYH3_HUMAN	Homo sapiens cytohesin 3 (CYTH3), mRNA.	310	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						TTTTCCAACGGGATGATTCCC	0.622000														88			15		0	0	0.004007	0	0
ZNF844	284391	broad.mit.edu	37	19	12187475	12187475	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr19:12187475C>G	uc002mtb.2	+	3	1683	c.1540C>G	c.(1540-1542)Cat>Gat	p.H514D	ZNF844_uc010dym.1_Missense_Mutation_p.H357D	NM_001136501	NP_001129973	Q08AG5	ZN844_HUMAN	Homo sapiens zinc finger protein 844 (ZNF844), mRNA.	514					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H514D(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						AAAGCCTTCACATCTGCCTCA	0.408000														41			3		0	0	0.004672	0	0
VWF	7450	broad.mit.edu	37	12	6061613	6061613	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr12:6061613C>T	uc001qnn.1	-	48	8309	c.8059G>A	c.(8059-8061)Gag>Aag	p.E2687K	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	2687					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	ACCCTCTTCTCCCAGAAGTAC	0.498000														34			7		0	0	0.003080	0	0
CES1	1066	broad.mit.edu	37	16	55857517	55857517	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr16:55857517C>T	uc002eim.3	-	3	589	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K	CES1_uc002eil.3_Missense_Mutation_p.E162K|CES1_uc002ein.3_Missense_Mutation_p.E161K	NM_001025194	NP_001020365	P23141	EST1_HUMAN	Homo sapiens carboxylesterase 1 (CES1), transcript variant 2, mRNA.	161					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	ACCACGTTTTCATGGGCAGCA	0.567000														66			15		0	0	0.003163	0	0
ANO2	57101	broad.mit.edu	37	12	5860054	5860054	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr12:5860054C>T	uc001qnm.2	-	10	1198	c.1126G>A	c.(1126-1128)Gga>Aga	p.G376R		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	381						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						ACAATCACTCCAATTACAGAA	0.338000														19			6		0	0	0.001168	0	0
ACTRT2	140625	broad.mit.edu	37	1	2939256	2939256	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr1:2939256G>A	uc001ajz.3	+	0	1211	c.1006G>A	c.(1006-1008)Gac>Aac	p.D336N		NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN	Homo sapiens actin-related protein T2 (ACTRT2), mRNA.	336						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		GGCTCCCCCCGACCGGTGGTT	0.617000														86			21		0	0	0.008871	0	0
ZNF276	92822	broad.mit.edu	37	16	89800348	89800348	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr16:89800348A>G	uc002fos.4	+	8	1473	c.1376A>G	c.(1375-1377)cAc>cGc	p.H459R	ZNF276_uc010ciq.3_Missense_Mutation_p.H245R|ZNF276_uc002foq.4_Missense_Mutation_p.H384R|ZNF276_uc010cir.3_Non-coding_Transcript|ZNF276_uc002for.4_Missense_Mutation_p.H245R|ZNF276_uc010cis.3_Missense_Mutation_p.H218R|ZNF276_uc002fot.4_Non-coding_Transcript|ZNF276_uc010vpm.2_Missense_Mutation_p.H297R|ZNF276_uc010cit.2_Missense_Mutation_p.H218R	NM_001113525	NP_001106997	Q8N554	ZN276_HUMAN	Homo sapiens zinc finger protein 276 (ZNF276), transcript variant a, mRNA.	459					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		AAGGAGCACCACGAGGAGGTC	0.627000														51			3		0	0	0.004672	0	0
OR2W1	26692	broad.mit.edu	37	6	29012589	29012589	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr6:29012589G>A	uc003nlw.2	-	0	364	c.364C>T	c.(364-366)Cgt>Tgt	p.R122C	LOC100129636_uc021ytq.1_Intron	NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 1 (OR2W1), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R122G(2)|p.R122S(2)		endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						GCTGTAAAACGATCATAGGAC	0.398000														31			11		0	0	0.008291	0	0
RBM25	58517	broad.mit.edu	37	14	73554749	73554750	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr14:73554749_73554750CC>TT	uc010ttu.2	+	6	699_700	c.423_424CC>TT	c.(421-426)ctccgt>ctTTgt	p.R142C	RBM25_uc001xnn.4_Missense_Mutation_p.R142C|RBM25_uc001xno.3_Missense_Mutation_p.R142C|RBM25_uc001xnp.3_5'UTR	NM_021239	NP_067062	P49756	RBM25_HUMAN	Homo sapiens RNA binding motif protein 25 (RBM25), mRNA.	142	RRM.				RNA splicing|apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding	p.L141L(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		AATCTACCCTCCGTGCACTCAG	0.381000														44			7		0	0	0.004672	0	0
DDX6	1656	broad.mit.edu	37	11	118626210	118626210	+	Silent	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr11:118626210G>A	uc001pub.2	-	11	1538	c.1177C>T	c.(1177-1179)Ctg>Ttg	p.L393L	DDX6_uc001pua.2_Silent_p.L93L|DDX6_uc001puc.2_Silent_p.L393L	NM_004397	NP_004388	P26196	DDX6_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 (DDX6), mRNA.	393	Helicase C-terminal.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|stress granule	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|protein binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		CGGGTAAACAGATCTTAAAAA	0.308000			T	IGH@	B-NHL									54			10		0	0	0.006214	0	0
TCRA	0	broad.mit.edu	37	14	22592107	22592107	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr14:22592107C>T	uc001wdd.2	+	1	339	c.192C>T	c.(190-192)atC>atT	p.I64I	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc010ajj.1_Silent_p.I64I|TCRA_uc001wde.1_Silent_p.I38I|TCRA_uc010aji.1_Silent_p.I64I					Homo sapiens TRA mRNA for T cell receptor alpha chain, partial cds, allele:TRAV19*01+TRAJ53*01.																		CACAGTATATCATTCATGGTC	0.453000														39			10		0	0	0.006214	0	0
MUC16	94025	broad.mit.edu	37	19	9083258	9083258	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr19:9083258T>C	uc002mkp.3	-	0	8761	c.8557A>G	c.(8557-8559)Acc>Gcc	p.T2853A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2853	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCAGCACTGGTGGGCTTCACA	0.547000														16			6		0	0	0.001168	0	0
FAM73A	374986	broad.mit.edu	37	1	78325750	78325750	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr1:78325750G>A	uc010ork.2	+	10	1246	c.1214G>A	c.(1213-1215)aGg>aAg	p.R405K	FAM73A_uc001dhx.3_Missense_Mutation_p.R405K|FAM73A_uc010orl.2_Missense_Mutation_p.R367K|FAM73A_uc001dhy.1_3'UTR	NM_198549	NP_940951	Q8NAN2	FA73A_HUMAN	Homo sapiens family with sequence similarity 73, member A (FAM73A), mRNA.	405						integral to membrane				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		TCAGCTAACAGGATATTCCTC	0.338000														28			3		0	0	0.004672	0	0
ACSL1	2180	broad.mit.edu	37	4	185694264	185694264	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr4:185694264C>T	uc003iww.2	-	9	1180	c.886G>A	c.(886-888)Gat>Aat	p.D296N	ACSL1_uc011ckm.1_Missense_Mutation_p.D125N|ACSL1_uc003iwt.1_Missense_Mutation_p.D296N|ACSL1_uc003iwu.1_Missense_Mutation_p.D296N|ACSL1_uc011ckn.1_Missense_Mutation_p.D262N|ACSL1_uc010ise.1_Non-coding_Transcript	NM_001995	NP_001986	P33121	ACSL1_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 1 (ACSL1), mRNA.	296					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GCTGAACAATCGCTCACTATG	0.428000														49			7		0	0	0.006214	0	0
ADD2	119	broad.mit.edu	37	2	70905880	70905880	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr2:70905880C>T	uc021vjc.1	-	10	1604	c.1339G>A	c.(1339-1341)Gat>Aat	p.D447N	ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_Missense_Mutation_p.D447N|ADD2_uc002sgz.3_Missense_Mutation_p.D447N|ADD2_uc010fdt.2_Missense_Mutation_p.D447N|ADD2_uc002shc.2_Missense_Mutation_p.D447N|ADD2_uc010fdu.2_Missense_Mutation_p.D463N	NM_001185054	NP_001608	P35612	ADDB_HUMAN	Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.	447					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	F-actin capping protein complex|cytoplasm|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TGGACCTCATCGGCCACATTG	0.662000														183			48		0	0	0.003610	0	0
ZFR2	23217	broad.mit.edu	37	19	3813923	3813923	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr19:3813923C>T	uc002lyw.2	-	13	2149	c.2137G>A	c.(2137-2139)Gac>Aac	p.D713N		NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN	Homo sapiens zinc finger RNA binding protein 2 (ZFR2), transcript variant 1, mRNA.	713						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		GCTTCAGGGTCGGAGGAGACC	0.547000														46			5		0	0	0.000602	0	0
CYP4A11	1579	broad.mit.edu	37	1	47400021	47400021	+	Silent	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr1:47400021G>A	uc001cqp.4	-	7	966	c.915C>T	c.(913-915)atC>atT	p.I305I	CYP4A11_uc001cqq.2_Silent_p.I305I|CYP4A11_uc010omm.1_Non-coding_Transcript	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	305					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	TGTCTGACAAGATGCTCCCAT	0.537000														26			6		0	0	0.008291	0	0
PRKCA	5578	broad.mit.edu	37	17	64728899	64728899	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr17:64728899G>A	uc002jfo.1	+	9	1117	c.625G>A	c.(625-627)Gac>Aac	p.D209N	PRKCA_uc002jfp.1_Missense_Mutation_p.D338N			P17252	KPCA_HUMAN	Homo sapiens protein kinase C, alpha (PRKCA), mRNA.	338	C2.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	GAAACTCACGGACTTCAATTT	0.473000														112			25		0	0	0.007291	0	0
UBL7	84993	broad.mit.edu	37	15	74743147	74743147	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr15:74743147C>T	uc002axw.1	-	5	688	c.526G>A	c.(526-528)Gat>Aat	p.D176N	UBL7_uc002axx.1_Missense_Mutation_p.D216N|UBL7_uc002axy.1_Missense_Mutation_p.D176N|UBL7_uc002axz.1_Missense_Mutation_p.D176N	NM_032907	NP_957717	Q96S82	UBL7_HUMAN	Homo sapiens ubiquitin-like 7 (bone marrow stromal cell-derived) (UBL7), transcript variant 1, mRNA.	176							protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						ACTTACGTATCAAGCATATTG	0.507000														70			23		0	0	0.002299	0	0
SPDEF	25803	broad.mit.edu	37	6	34511828	34511828	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr6:34511828C>T	uc003ojq.2	-	1	839	c.405G>A	c.(403-405)gaG>gaA	p.E135E	SPDEF_uc011dsq.2_Silent_p.E135E	NM_012391	NP_036523	O95238	SPDEF_HUMAN	Homo sapiens SAM pointed domain containing ets transcription factor (SPDEF), transcript variant 1, mRNA.	135	PNT.				negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						TGCAGGCCGTCTCGATGTCCT	0.642000														25			8		0	0	0.006214	0	0
MYH13	8735	broad.mit.edu	37	17	10216579	10216579	+	Silent	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr17:10216579G>A	uc002gmk.1	-	29	4167	c.4077C>T	c.(4075-4077)gcC>gcT	p.A1359A		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1359					muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCTGCAGCTCGGCCTTGGCTT	0.632000														93			17		0	0	0.004990	0	0
DDR2	4921	broad.mit.edu	37	1	162740136	162740136	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr1:162740136C>T	uc001gcf.3	+	12	1803	c.1338C>T	c.(1336-1338)tcC>tcT	p.S446S	DDR2_uc001gcg.3_Silent_p.S446S	NM_001014796	NP_006173	Q16832	DDR2_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 2 (DDR2), transcript variant 1, mRNA.	446					cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			TCAGCCTTTCCCTGCCAAGTG	0.498000														167			24		0	0	0.002780	0	0
LOC649330	649330	broad.mit.edu	37	1	12907971	12907971	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr1:12907971C>T	uc010obf.2	-	1	398	c.172G>A	c.(172-174)Gat>Aat	p.D58N	LOC649330_uc009vno.2_Missense_Mutation_p.D58N	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	58							nucleic acid binding|nucleotide binding	p.D58N(1)									TTCTCCTTATCATATTGAACG	0.468000														75			7		0	0	0.003080	0	0
CARD11	84433	broad.mit.edu	37	7	2983953	2983953	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr7:2983953C>T	uc003smv.3	-	4	911	c.577G>A	c.(577-579)Gag>Aag	p.E193K		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	193					T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TTGACCAGCTCGTCATTGTAG	0.552000			Mis		DLBCL									86			10		0	0	0.006214	0	0
FAM184A	79632	broad.mit.edu	37	6	119345824	119345824	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr6:119345824C>T	uc003pyj.3	-	1	662	c.314G>A	c.(313-315)aGa>aAa	p.R105K	FAM184A_uc003pyk.4_5'UTR|FAM184A_uc003pyl.4_5'UTR	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	Homo sapiens family with sequence similarity 184, member A (FAM184A), transcript variant 1, mRNA.	105										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						AATCTTTCTTCTAAGGTCTAG	0.338000														34			9		0	0	0.006214	0	0
KIAA0232	9778	broad.mit.edu	37	4	6865206	6865206	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr4:6865206C>T	uc003gjr.4	+	6	3560	c.3097C>T	c.(3097-3099)Cct>Tct	p.P1033S	KIAA0232_uc003gjq.4_Missense_Mutation_p.P1033S	NM_014743	NP_055558	Q92628	K0232_HUMAN	Homo sapiens KIAA0232 (KIAA0232), transcript variant 1, mRNA.	1033							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						AGTCGAAGATCCTGGACTTGA	0.383000														58			10		0	0	0.006214	0	0
ZNF521	25925	broad.mit.edu	37	18	22807209	22807209	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr18:22807209C>A	uc002kvk.2	-	3	920	c.673G>T	c.(673-675)Gag>Tag	p.E225*	ZNF521_uc010xbe.1_Non-coding_Transcript|ZNF521_uc010dly.2_Nonsense_Mutation_p.E225*|ZNF521_uc002kvl.2_Nonsense_Mutation_p.E5*	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	Homo sapiens zinc finger protein 521 (ZNF521), mRNA.	225					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TTGTTCCTCTCATGAACCTGC	0.507000			T	PAX5	ALL									43			9		0.000442599	0.000632861	0.006214	1	0
CAP2	10486	broad.mit.edu	37	6	17507493	17507493	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr6:17507493C>T	uc003ncb.3	+	4	637	c.394C>T	c.(394-396)Cat>Tat	p.H132Y	CAP2_uc010jpk.1_Non-coding_Transcript|CAP2_uc011dja.2_Missense_Mutation_p.H106Y|CAP2_uc011djb.2_Missense_Mutation_p.H132Y|CAP2_uc011djc.2_Intron|CAP2_uc011djd.2_Intron	NM_006366	NP_006357	P40123	CAP2_HUMAN	Homo sapiens CAP, adenylate cyclase-associated protein, 2 (yeast) (CAP2), mRNA.	132					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			CATGTTTAATCATCTTTCGGC	0.483000														53			17		0	0	0.006122	0	0
C1orf173	127254	broad.mit.edu	37	1	75055375	75055375	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr1:75055375C>T	uc001dgg.3	-	11	2335	c.2116G>A	c.(2116-2118)Gaa>Aaa	p.E706K	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Missense_Mutation_p.E500K	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	706	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GTGCTTTCTTCCCAAAGCTTA	0.478000														202			31		0	0	0.001786	0	0
NRK	203447	broad.mit.edu	37	X	105168832	105168832	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chrX:105168832G>A	uc004emd.3	+	18	3424	c.3121G>A	c.(3121-3123)Gga>Aga	p.G1041R	NRK_uc010npc.1_Missense_Mutation_p.G709R	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	1041							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TGCAGCCATTGGAGATCAGGA	0.512000										HNSCC(51;0.14)				21			6		0	0	0.001984	0	0
LARP4	113251	broad.mit.edu	37	12	50821651	50821651	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr12:50821651C>T	uc001rwp.2	+	1	327	c.125C>T	c.(124-126)tCt>tTt	p.S42F	LARP4_uc001rwq.2_Missense_Mutation_p.S42F|LARP4_uc001rwt.2_Missense_Mutation_p.S42F|LARP4_uc001rws.2_Missense_Mutation_p.S41F|LARP4_uc001rwr.2_Missense_Mutation_p.S42F|LARP4_uc021qxv.1_5'UTR|LARP4_uc001rwm.3_Missense_Mutation_p.S42F|LARP4_uc001rwn.3_5'UTR	NM_052879	NP_443111	Q71RC2	LARP4_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4 (LARP4), transcript variant 1, mRNA.	42							RNA binding|nucleotide binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						ACTGAAAGCTCTTGGCATGAA	0.403000														41			15		0	0	0.007413	0	0
GABRB1	2560	broad.mit.edu	37	4	47408824	47408824	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr4:47408824C>T	uc003gxh.3	+	7	1335	c.961C>T	c.(961-963)Ctg>Ttg	p.L321L	GABRB1_uc011bze.2_Silent_p.L251L	NM_000812	NP_000803	P18505	GBRB1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1), mRNA.	321					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GTTCCTGGCTCTGCTGGAGTA	0.448000														56			5		0	0	0.000602	0	0
SRCAP	10847	broad.mit.edu	37	16	30734010	30734010	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr16:30734010C>T	uc002dze.1	+	22	4218	c.3833C>T	c.(3832-3834)tCg>tTg	p.S1278L	SRCAP_uc002dzf.3_Intron|SRCAP_uc002dzg.1_Intron	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	1278	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CTGCCTTCTTCGACCCCCAGC	0.667000														185			24		0	0	0.003330	0	0
TIMD4	91937	broad.mit.edu	37	5	156353306	156353306	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr5:156353306G>A	uc003lwh.2	-	5	919	c.862C>T	c.(862-864)Cct>Tct	p.P288S	TIMD4_uc010jii.2_Missense_Mutation_p.P260S|TIMD4_uc003lwg.2_5'UTR	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA.	288						integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTCTGCTCAGGAACTGCTGTA	0.368000														424			57		0	0	0.003610	0	0
AHSP	51327	broad.mit.edu	37	16	31539946	31539946	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr16:31539946C>T	uc002ecj.3	+	2	328	c.243C>T	c.(241-243)ttC>ttT	p.F81F		NM_016633	NP_057717	Q9NZD4	AHSP_HUMAN	Homo sapiens alpha hemoglobin stabilizing protein (AHSP), mRNA.	81					hemoglobin metabolic process|hemopoiesis|protein folding|protein stabilization	hemoglobin complex	hemoglobin binding|unfolded protein binding			lung(2)	2						CCAACCCTTTCCTGGCCAAGT	0.587000														46			8		0	0	0.003080	0	0
NCR1	9437	broad.mit.edu	37	19	55417934	55417934	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr19:55417934G>A	uc002qib.2	+	2	162	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K	NCR1_uc002qic.2_Missense_Mutation_p.E42K|NCR1_uc002qie.2_Missense_Mutation_p.E42K|NCR1_uc002qid.2_Intron|NCR1_uc002qif.2_Intron|NCR1_uc010esj.2_Intron	NM_004829	NP_004820	O76036	NCTR1_HUMAN	Homo sapiens natural cytotoxicity triggering receptor 1 (NCR1), transcript variant 1, mRNA.	42	Ig-like 1.				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	SWI/SNF complex|integral to plasma membrane	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		GGTTCCAAAGGAAAAGCAAGT	0.547000														77			12		0	0	0.001855	0	0
KRT6C	286887	broad.mit.edu	37	12	52862871	52862871	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr12:52862871G>A	uc001sal.4	-	8	1718	c.1670C>T	c.(1669-1671)tCc>tTc	p.S557F		NM_173086	NP_775109	P48668	K2C6C_HUMAN	Homo sapiens keratin 6C (KRT6C), mRNA.	557	Tail.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		CTTCCTGCTGGAGGAGGAGGT	0.607000														67			16		0	0	0.006122	0	0
PBX1	5087	broad.mit.edu	37	1	164769111	164769111	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr1:164769111G>A	uc001gct.3	+	3	1149	c.686G>A	c.(685-687)cGa>cAa	p.R229Q	PBX1_uc010pku.2_Missense_Mutation_p.R229Q|PBX1_uc001gcs.3_Missense_Mutation_p.R229Q|PBX1_uc010pkv.2_Missense_Mutation_p.R146Q|PBX1_uc010pkw.1_Missense_Mutation_p.R119Q	NM_002585	NP_002576	P40424	PBX1_HUMAN	Homo sapiens pre-B-cell leukemia homeobox 1 (PBX1), transcript variant 1, mRNA.	229					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						CTGCGTTCCCGATTTCTGGAT	0.617000			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""									26			21		0	0	0.002780	0	0
ZNF142	7701	broad.mit.edu	37	2	219508131	219508131	+	Silent	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr2:219508131G>A	uc002vin.3	-	7	3544	c.3108C>T	c.(3106-3108)tcC>tcT	p.S1036S	ZNF142_uc002vil.3_Silent_p.S997S|ZNF142_uc010fvt.3_Silent_p.S873S|ZNF142_uc002vim.3_Silent_p.S873S	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	Homo sapiens zinc finger protein 142 (ZNF142), mRNA.	1036					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGGAGAGCCGGGAACAAAGGA	0.612000														65			12		0	0	0.000978	0	0
BZW2	28969	broad.mit.edu	37	7	16736583	16736583	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr7:16736583C>T	uc003stj.2	+	8	1028	c.866C>T	c.(865-867)cCa>cTa	p.P289L	BZW2_uc011jxx.1_Missense_Mutation_p.P95L|BZW2_uc003stl.2_Missense_Mutation_p.P289L|BZW2_uc003stm.2_Missense_Mutation_p.P95L|BZW2_uc003sto.1_Missense_Mutation_p.P137L	NM_014038	NP_054757	Q9Y6E2	BZW2_HUMAN	Homo sapiens basic leucine zipper and W2 domains 2 (BZW2), transcript variant 2, mRNA.	289	W2.				RNA metabolic process|cell differentiation|nervous system development		protein binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		AATGATCTTCCAGAAACAGCA	0.453000														56			6		0	0	0.001984	0	0
KIAA1210	57481	broad.mit.edu	37	X	118242374	118242374	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chrX:118242374C>T	uc004era.4	-	5	838	c.838G>A	c.(838-840)Gga>Aga	p.G280R		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	280										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GACATGGCTCCAGACACAACT	0.468000														42			20		0	0	0.008871	0	0
THSD7B	80731	broad.mit.edu	37	2	138373853	138373853	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr2:138373853G>A	uc002tva.1	+	16	3442	c.3442G>A	c.(3442-3444)Gaa>Aaa	p.E1148K	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CCTCCTGAATGAAAATTGCTT	0.453000														166			22		0	0	0.002780	0	0
SCN5A	6331	broad.mit.edu	37	3	38648229	38648229	+	Silent	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr3:38648229G>A	uc021wvo.1	-	7	1123	c.1071C>T	c.(1069-1071)tcC>tcT	p.S357S	SCN5A_uc021wvk.1_Silent_p.S357S|SCN5A_uc021wvl.1_Silent_p.S357S|SCN5A_uc021wvm.1_Silent_p.S357S|SCN5A_uc021wvn.1_Silent_p.S357S|SCN5A_uc021wvp.1_Silent_p.S357S|SCN5A_uc021wvq.1_Silent_p.S357S|SCN5A_uc021wvr.1_Silent_p.S357S|SCN5A_uc021wvs.1_Silent_p.S357S|SCN5A_uc021wvt.1_Silent_p.S357S|SCN5A_uc021wvu.1_Silent_p.S357S|SCN5A_uc021wvv.1_Silent_p.S357S|SCN5A_uc021wvj.1_Silent_p.S223S|SCN5A_uc021wvi.1_Silent_p.S223S|SCN5A_uc021wvw.1_5'Flank	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	357					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CCCAGGCAAAGGAATCGAAGC	0.597000														46			8		0	0	0.003080	0	0
RAB40AL	282808	broad.mit.edu	37	X	102192924	102192924	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chrX:102192924C>T	uc004ejs.3	+	0	725	c.678C>T	c.(676-678)tcC>tcT	p.S226S		NM_001031834	NP_001027004	P0C0E4	RB40L_HUMAN	Homo sapiens RAB40A, member RAS oncogene family-like (RAB40AL), mRNA.	226	SOCS box.				protein transport|small GTPase mediated signal transduction	mitochondrion|plasma membrane	GTP binding			endometrium(4)|large_intestine(2)|lung(3)|ovary(3)	12						AGTCCTTCTCCATGGCTAAGG	0.572000														52			18		0	0	0.006122	0	0
SNRPN	6638	broad.mit.edu	37	15	25463764	25463764	+	Splice_Site	SNP	G	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr15:25463764G>T	uc001yzv.2	+	1		c.1_splice	c.e1-1		SNORD115-15_uc001yzq.1_Intron|SNRPN_uc001yzt.1_Intron|SNRPN_uc001yzw.1_Non-coding_Transcript|SNORD115-27_uc010ayq.1_5'Flank			P63162	RSMN_HUMAN	Homo sapiens small nucleolar RNA, C/D box 115-26 (SNORD115-26), small nucleolar RNA.						RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	RNA binding|identical protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		GCCCTGGGTTGGGTCAGTGAT	0.537000									Prader-Willi syndrome					207			30		1.13719e-10	1.65621e-10	0.008361	1	0
ZNF512	84450	broad.mit.edu	37	2	27830820	27830820	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr2:27830820C>T	uc002rla.3	+	9	1132	c.1045C>T	c.(1045-1047)Cac>Tac	p.H349Y	ZNF512_uc010ylw.2_Missense_Mutation_p.H320Y|ZNF512_uc002rlb.3_Missense_Mutation_p.H270Y|ZNF512_uc010ylx.2_Missense_Mutation_p.H270Y|ZNF512_uc002rlc.3_Missense_Mutation_p.H270Y|ZNF512_uc010ylv.2_Missense_Mutation_p.H270Y|ZNF512_uc010yly.1_Non-coding_Transcript|ZNF512_uc010ylz.2_Missense_Mutation_p.H242Y	NM_032434	NP_115810	Q96ME7	ZN512_HUMAN	Homo sapiens zinc finger protein 512 (ZNF512), mRNA.	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					AGCTGTATACCACCTACAGGA	0.522000														22			5		0	0	0.000602	0	0
CARD10	29775	broad.mit.edu	37	22	37892011	37892011	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr22:37892011C>T	uc003asx.1	-	14	2077	c.2060_splice	c.e14-1	p.A687_splice	CARD10_uc003ast.1_Splice_Site|CARD10_uc003asv.1_5'Flank|CARD10_uc011ank.1_Splice_Site_p.A5_splice|CARD10_uc003asw.1_Splice_Site_p.A401_splice|CARD10_uc003asy.1_Splice_Site_p.A687_splice	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN	Homo sapiens caspase recruitment domain family, member 10 (CARD10), mRNA.	687					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					GACTGGCAGGCTGGGCATGGA	0.637000														28			5		0	0	0.001984	0	0
C16orf78	123970	broad.mit.edu	37	16	49407910	49407910	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr16:49407910G>A	uc002efr.3	+	0	103	c.60G>A	c.(58-60)tgG>tgA	p.W20*		NM_144602	NP_653203	Q8WTQ4	CP078_HUMAN	Homo sapiens chromosome 16 open reading frame 78 (C16orf78), mRNA.	20								p.M19I(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						AATACATGTGGAAGACTGCTG	0.537000														72			28		0	0	0.006320	0	0
CHRNA9	55584	broad.mit.edu	37	4	40337981	40337981	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr4:40337981A>G	uc003gva.1	+	1	218	c.202A>G	c.(202-204)Aag>Gag	p.K68E		NM_017581	NP_060051	Q9UGM1	ACHA9_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 9 (CHRNA9), mRNA.	68					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	CTCTCAGATTAAGGATATGGT	0.393000														65			12		0	0	0.000978	0	0
CFI	3426	broad.mit.edu	37	4	110681755	110681755	+	Silent	SNP	C	T	T	rs144145014	by1000genomes	TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr4:110681755C>T	uc011cft.2	-	4	904	c.696G>A	c.(694-696)ggG>ggA	p.G232G	CFI_uc003hzq.3_Silent_p.G29G|CFI_uc003hzr.4_Silent_p.G232G	NM_000204	NP_000195	P05156	CFAI_HUMAN	Homo sapiens complement factor I (CFI), mRNA.	232	LDL-receptor class A 1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		AAATGTATTTCCCATTCACAC	0.368000														46			8		0	0	0.008291	0	0
FAM92B	339145	broad.mit.edu	37	16	85141502	85141502	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr16:85141502C>T	uc021tma.1	-	3	532	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K	FAM92B_uc021tlz.1_Missense_Mutation_p.E126K	NM_198491	NP_940893	Q6ZTR7	FA92B_HUMAN	Homo sapiens family with sequence similarity 92, member B (FAM92B), mRNA.	126										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	16						TCCAGTTTTTCCAGTTGTTTG	0.517000														110			19		0	0	0.008871	0	0
PLCH1	23007	broad.mit.edu	37	3	155314053	155314053	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr3:155314053C>T	uc021xge.1	-	1	435	c.158G>A	c.(157-159)tGg>tAg	p.W53*	PLCH1_uc021xgd.1_Nonsense_Mutation_p.W53*|PLCH1_uc021xgf.1_Nonsense_Mutation_p.W35*	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	53	PH.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AGAGGGTCGCCATCGGAGGCG	0.498000														129			29		0	0	0.006320	0	0
CHGB	1114	broad.mit.edu	37	20	5904294	5904294	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr20:5904294C>T	uc002wmg.3	+	3	1810	c.1504C>T	c.(1504-1506)Caa>Taa	p.Q502*	CHGB_uc010zqz.2_Nonsense_Mutation_p.Q185*	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	502						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						AGCTAGGTTTCAAGATAAACA	0.493000														88			16		0	0	0.004990	0	0
CLCA4	22802	broad.mit.edu	37	1	87045870	87045870	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr1:87045870C>T	uc009wcs.3	+	13	2646	c.2602C>T	c.(2602-2604)Cct>Tct	p.P868S	CLCA4_uc009wct.3_Missense_Mutation_p.P631S|CLCA4_uc009wcu.3_Missense_Mutation_p.P688S	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	Homo sapiens chloride channel accessory 4 (CLCA4), transcript variant 1, mRNA.	868						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		TTTGTTTATCCCTCAAGCAAA	0.348000														37			10		0	0	0.008291	0	0
C12orf51	283450	broad.mit.edu	37	12	112646369	112646369	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr12:112646369C>T	uc021reb.1	-	50	7927	c.7531G>A	c.(7531-7533)Ggc>Agc	p.G2511S	C12orf51_uc001ttr.1_Missense_Mutation_p.G398S	NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						GGGTCTGGGCCAGAGGTGATG	0.473000														111			16		0	0	0.004990	0	0
LTBP3	4054	broad.mit.edu	37	11	65315462	65315462	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr11:65315462G>A	uc001oej.3	-	11	2044	c.1775C>T	c.(1774-1776)cCg>cTg	p.P592L	LTBP3_uc001oeg.3_5'Flank|LTBP3_uc001oeh.3_Missense_Mutation_p.P22L|LTBP3_uc010roi.2_Missense_Mutation_p.P475L|LTBP3_uc001oei.3_Missense_Mutation_p.P592L|LTBP3_uc010roj.2_Missense_Mutation_p.P293L|LTBP3_uc010rok.1_Missense_Mutation_p.P503L	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 3 (LTBP3), transcript variant 1, mRNA.	592	Cys-rich.|EGF-like 3.					extracellular region	calcium ion binding|growth factor binding	p.P592L(2)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						AGGGGGGCCCGGCACGCACTC	0.672000														52			9		0	0	0.008291	0	0
ARMC10	83787	broad.mit.edu	37	7	102738884	102738884	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr7:102738884G>A	uc003vaw.2	+	6	1308	c.916G>A	c.(916-918)Ggt>Agt	p.G306S	ARMC10_uc003vay.2_Missense_Mutation_p.G247S|ARMC10_uc003vax.2_Missense_Mutation_p.G271S|ARMC10_uc003vbb.2_Missense_Mutation_p.G212S|ARMC10_uc011kli.2_Missense_Mutation_p.G247S|ARMC10_uc010lis.2_Missense_Mutation_p.G188S	NM_031905	NP_114111	Q8N2F6	ARM10_HUMAN	Homo sapiens armadillo repeat containing 10 (ARMC10), transcript variant A, mRNA.	306					regulation of growth	endoplasmic reticulum membrane|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	11						TTTCACTGAAGGTTCATTGTT	0.388000														67			11		0	0	0.002450	0	0
NOX4	50507	broad.mit.edu	37	11	89155089	89155089	+	Silent	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr11:89155089G>A	uc001pct.3	-	7	849	c.610C>T	c.(610-612)Ctg>Ttg	p.L204L	NOX4_uc009yvr.3_Silent_p.L179L|NOX4_uc001pcu.3_Silent_p.L130L|NOX4_uc001pcw.3_Intron|NOX4_uc001pcx.3_Intron|NOX4_uc001pcv.3_Silent_p.L204L|NOX4_uc009yvo.3_Non-coding_Transcript|NOX4_uc010rtu.2_Silent_p.L38L|NOX4_uc009yvp.3_Silent_p.L204L|NOX4_uc010rtv.2_Silent_p.L180L|NOX4_uc009yvq.3_Silent_p.L180L|NOX4_uc009yvs.1_Non-coding_Transcript	NM_016931	NP_001137309	Q9NPH5	NOX4_HUMAN	Homo sapiens NADPH oxidase 4 (NOX4), transcript variant 1, mRNA.	204	Ferric oxidoreductase.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	NAD(P)H oxidase activity|electron carrier activity|flavin adenine dinucleotide binding|heme binding|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				TGCAACGTCAGCAGCATGTAG	0.328000														45			9		0	0	0.008291	0	0
TSKS	60385	broad.mit.edu	37	19	50245169	50245169	+	Silent	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr19:50245169G>A	uc002ppm.3	-	8	1481	c.1470C>T	c.(1468-1470)agC>agT	p.S490S		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	Homo sapiens testis-specific serine kinase substrate (TSKS), mRNA.	490							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		GCCTCTGACAGCTGGGACAGG	0.587000														75			16		0	0	0.001523	0	0
TNFRSF21	27242	broad.mit.edu	37	6	47221041	47221041	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr6:47221041C>T	uc003oyv.3	-	3	1893	c.1460G>A	c.(1459-1461)aGa>aAa	p.R487K		NM_014452	NP_055267	O75509	TNR21_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 21 (TNFRSF21), mRNA.	487	Death.				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			AACATCGTTTCTCCGGTGCTG	0.617000														12			5		0	0	0.000602	0	0
FNDC3A	22862	broad.mit.edu	37	13	49765474	49765474	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr13:49765474C>T	uc001vcm.3	+	18	2485	c.2180C>T	c.(2179-2181)cCt>cTt	p.P727L	FNDC3A_uc001vcn.3_Missense_Mutation_p.P727L|FNDC3A_uc001vco.3_Non-coding_Transcript|FNDC3A_uc001vcq.3_Missense_Mutation_p.P671L	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	Homo sapiens fibronectin type III domain containing 3A (FNDC3A), transcript variant 1, mRNA.	727	Fibronectin type-III 5.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		AGCCTTCTTCCTGGAAAGACA	0.388000														37			9		0	0	0.004482	0	0
LOC100133308	100133308	broad.mit.edu	37	10	45611442	45611442	+	RNA	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr10:45611442G>A	uc001jbz.3	-	3		c.308C>T			LOC100133308_uc009xmq.2_Non-coding_Transcript					Homo sapiens Ras suppressor protein 1 pseudogene (LOC100133308), non-coding RNA.																		GCAGCTCCTCGATCTGGTTAT	0.443000														56			6		0	0	0.001984	0	0
FRAS1	80144	broad.mit.edu	37	4	79417974	79417974	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr4:79417974G>A	uc003hlb.2	+	59	9414	c.8974G>A	c.(8974-8976)Gtc>Atc	p.V2992I	FRAS1_uc003hlc.1_5'UTR	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	2987	Calx-beta 4.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GAACTGTACGGTCTATATCCA	0.433000														156			16		0	0	0.003163	0	0
CD300A	11314	broad.mit.edu	37	17	72469868	72469868	+	Silent	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr17:72469868G>A	uc002jkv.3	+	1	555	c.234G>A	c.(232-234)agG>agA	p.R78R	CD300A_uc002jkw.3_Intron|CD300A_uc010dfr.3_Intron|CD300A_uc010dfs.3_Intron	NM_007261	NP_009192	Q9UGN4	CLM8_HUMAN	Homo sapiens CD300a molecule (CD300A), mRNA.	78	Ig-like V-type.				cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						TGTCCATCAGGGACAGTCCTG	0.527000														69			11		0	0	0.000978	0	0
PRKCB	5579	broad.mit.edu	37	16	24135202	24135202	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr16:24135202C>T	uc002dmd.3	+	8	1162	c.965C>T	c.(964-966)aCc>aTc	p.T322I	PRKCB_uc002dme.3_Missense_Mutation_p.T322I	NM_212535	NP_997700	P05771	KPCB_HUMAN	Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	322					B cell activation|B cell receptor signaling pathway|apoptosis|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|androgen receptor binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	GAAAAGACGACCAACACTGTC	0.478000														71			20		0	0	0.007413	0	0
C1orf173	127254	broad.mit.edu	37	1	75038129	75038129	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr1:75038129C>T	uc001dgg.3	-	13	3484	c.3265G>A	c.(3265-3267)Gaa>Aaa	p.E1089K		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1089	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						AAAGCATCTTCATCCTTGAGT	0.433000														130			42		0	0	0.006230	0	0
PROKR2	128674	broad.mit.edu	37	20	5283028	5283028	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr20:5283028C>T	uc010zqw.2	-	1	821	c.813G>A	c.(811-813)agG>agA	p.R271R	PROKR2_uc010zqx.2_Silent_p.R271R|PROKR2_uc010zqy.2_Silent_p.R271R	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	271						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						GGACCGTCTTCCTGCGGCAGC	0.597000										HNSCC(71;0.22)				69			6		0	0	0.001168	0	0
NRAP	4892	broad.mit.edu	37	10	115364582	115364582	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr10:115364582C>T	uc001lal.3	-	34	4177	c.4013G>A	c.(4012-4014)gGc>gAc	p.G1338D	NRAP_uc009xyb.3_Missense_Mutation_p.G127D|NRAP_uc001laj.3_Missense_Mutation_p.G1338D|NRAP_uc001lak.3_Missense_Mutation_p.G1303D	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	1338						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CTGCAGCTGGCCCATGCGCCG	0.592000														94			20		0	0	0.001523	0	0
COPG1	22820	broad.mit.edu	37	3	128990615	128990615	+	Silent	SNP	T	C	C			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr3:128990615T>C	uc003els.3	+	18	1949	c.1849T>C	c.(1849-1851)Ttg>Ctg	p.L617L	COPG1_uc010htb.3_Silent_p.L523L	NM_016128	NP_057212	Q9Y678	COPG_HUMAN	Homo sapiens coatomer protein complex, subunit gamma (COPG), mRNA.	617	Interaction with ZNF289/ARFGAP2.				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity										TTCAGAGCAGTTGGCAGCAGT	0.542000														44			9		0	0	0.008291	0	0
MARCO	8685	broad.mit.edu	37	2	119739939	119739939	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr2:119739939C>T	uc002tln.1	+	11	1148	c.1016C>T	c.(1015-1017)cCc>cTc	p.P339L	MARCO_uc010yyf.1_Missense_Mutation_p.P261L	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	339	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	p.P339P(2)		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						CCAGGGAGCCCCGGGAGTCCA	0.592000														191			30		0	0	0.002836	0	0
OR52K1	390036	broad.mit.edu	37	11	4510973	4510973	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr11:4510973C>T	uc001lza.2	+	0	865	c.843C>T	c.(841-843)ttC>ttT	p.F281F		NM_001005171	NP_001005171	Q8NGK4	O52K1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily K, member 1 (OR52K1), mRNA.	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		TTGCTATTTTCTATCTCCTTT	0.483000														121			18		0	0	0.007413	0	0
AL117485	0	broad.mit.edu	37	22	18844888	18844888	+	RNA	SNP	A	G	G			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr22:18844888A>G	uc002zoe.3	+	3		c.2142A>G			AL117485_uc002zof.3_5'Flank					Homo sapiens cDNA FLJ76361 complete cds.																		GCTCACGGAAATACAGCTTCA	0.587000														53			4		0	0	0.000602	0	0
NAPSA	9476	broad.mit.edu	37	19	50862308	50862308	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr19:50862308C>T	uc002prx.3	-	7	1048	c.995G>A	c.(994-996)gGg>gAg	p.G332E	NR1H2_uc002prv.4_Intron	NM_004851	NP_004842	O96009	NAPSA_HUMAN	Homo sapiens napsin A aspartic peptidase (NAPSA), mRNA.	332					proteolysis	extracellular region	aspartic-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		AAACCAGACCCCCCCAAGAAG	0.532000														63			7		0	0	0.004482	0	0
ARL11	115761	broad.mit.edu	37	13	50204565	50204565	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr13:50204565G>A	uc001vdf.2	+	2	318	c.-17_splice	c.e2-1		ARL11_uc021rjo.1_5'Flank	NM_138450	NP_612459	Q969Q4	ARL11_HUMAN	Homo sapiens ADP-ribosylation factor-like 11 (ARL11), mRNA.						small GTPase mediated signal transduction	intracellular	GTP binding|protein binding			kidney(1)|large_intestine(4)|ovary(1)	6		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169)	GBM - Glioblastoma multiforme(99;1.67e-09)		TTCTCCCCTAGGATTCAGCAG	0.577000														74			15		0	0	0.003163	0	0
HOXA2	3199	broad.mit.edu	37	7	27140855	27140855	+	Silent	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr7:27140855G>A	uc003syh.3	-	1	896	c.621C>T	c.(619-621)aaC>aaT	p.N207N	HOXA2_uc022aaq.1_3'UTR	NM_006735	NP_006726	O43364	HXA2_HUMAN	Homo sapiens homeobox A2 (HOXA2), mRNA.	207						nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						CGCTGTTTTGGTTTTCCTTGC	0.502000														67			7		0	0	0.003080	0	0
USH2A	7399	broad.mit.edu	37	1	216497021	216497021	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr1:216497021G>A	uc001hku.1	-	7	1732	c.1345C>T	c.(1345-1347)Cgt>Tgt	p.R449C	USH2A_uc001hkv.3_Missense_Mutation_p.R449C	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	449	Laminin N-terminal.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACATTGCCACGGGAATATGGA	0.348000										HNSCC(13;0.011)				57			46		0	0	0.003610	0	0
CDX4	1046	broad.mit.edu	37	X	72667171	72667171	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chrX:72667171G>A	uc011mqk.2	+	0	82	c.82G>A	c.(82-84)Ggg>Agg	p.G28R		NM_005193	NP_005184	O14627	CDX4_HUMAN	Homo sapiens caudal type homeobox 4 (CDX4), mRNA.	28						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					CGGCACAGCTGGGACAGGCGG	0.607000														16			5		0	0	0.000602	0	0
CPAMD8	27151	broad.mit.edu	37	19	17049238	17049238	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr19:17049238C>T	uc002nfb.3	-	22	2985	c.2953G>A	c.(2953-2955)Gcg>Acg	p.A985T		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	938						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	p.R984L(1)		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						TAGGTGTACGCCCGGGGGACT	0.617000														16			5		0	0	0.001168	0	0
USP26	83844	broad.mit.edu	37	X	132161995	132161995	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chrX:132161995C>T	uc011mvf.2	-	0	306	c.254G>A	c.(253-255)gGa>gAa	p.G85E	USP26_uc010nrm.1_Missense_Mutation_p.G85E	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA.	85					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					GGAGGATAATCCTTCAATAAA	0.373000														29			11		0	0	0.000978	0	0
ANKRD20A2	441430	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	C	C			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr2:95522772T>C	uc010fhp.3	-	0		c.49A>G						Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A8, pseudogene (ANKRD20A8P), non-coding RNA.									p.E49G(1)		large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						GCGCTCCACCTCCGCGGCGTC	0.682000														74			4		0	0	0.000248	0	0
LPAR4	2846	broad.mit.edu	37	X	78011012	78011012	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chrX:78011012C>T	uc022bzj.1	+	0	646	c.646C>T	c.(646-648)Cct>Tct	p.P216S	LPAR4_uc010nme.3_Missense_Mutation_p.P216S	NM_005296	NP_005287	Q99677	LPAR4_HUMAN	Homo sapiens lysophosphatidic acid receptor 4 (LPAR4), mRNA.	216						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						GTTTATCATTCCTCTAATATT	0.398000														22			4		0	0	0.000248	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14439208	14439208	+	RNA	SNP	A	G	G			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr21:14439208A>G	uc002yja.4	+	9		c.2726A>G								Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		AAGAGAAGAAATGCCAATATA	0.299000														47			6		0	0	0.001984	0	0
OR8S1	341568	broad.mit.edu	37	12	48919456	48919456	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr12:48919456C>T	uc010slu.2	+	0	42	c.42C>T	c.(40-42)ctC>ctT	p.L14L		NM_001005203	NP_001005203	Q8NH09	OR8S1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily S, member 1 (OR8S1), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						AGTTCCTCCTCCTTGGGCTGT	0.502000														104			23		0	0	0.004656	0	0
IRF6	3664	broad.mit.edu	37	1	209964110	209964110	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr1:209964110C>T	uc001hhq.2	-	6	1094	c.790G>A	c.(790-792)Gag>Aag	p.E264K	IRF6_uc010psm.2_Missense_Mutation_p.E169K	NM_006147	NP_001193625	O14896	IRF6_HUMAN	Homo sapiens interferon regulatory factor 6 (IRF6), transcript variant 1, mRNA.	264					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		CCAAAGAGCTCCTCCTGGTCA	0.572000										HNSCC(57;0.16)				71			9		0	0	0.006214	0	0
OR2A25	392138	broad.mit.edu	37	7	143771345	143771345	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr7:143771345C>T	uc011ktx.2	+	0	33	c.33C>T	c.(31-33)ttC>ttT	p.F11F		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA.	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TCACAGAGTTCCTCCTACTGG	0.478000														88			13		0	0	0.001855	0	0
TYROBP	7305	broad.mit.edu	37	19	36398369	36398369	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr19:36398369G>A	uc002ocm.3	-	2	289	c.208C>T	c.(208-210)Cgg>Tgg	p.R70W	TYROBP_uc002ocn.3_Missense_Mutation_p.R70W|TYROBP_uc021uta.1_Missense_Mutation_p.R59W|TYROBP_uc021utb.1_Missense_Mutation_p.R59W|TYROBP_uc021utc.1_Non-coding_Transcript	NM_003332	NP_003323	O43914	TYOBP_HUMAN	Homo sapiens TYRO protein tyrosine kinase binding protein (TYROBP), transcript variant 1, mRNA.	70					axon guidance|cell junction assembly|cellular defense response|intracellular signal transduction|regulation of immune response	integral to plasma membrane|intracellular	identical protein binding|receptor signaling protein activity			NS(1)|central_nervous_system(1)|large_intestine(1)|lung(4)|skin(1)	8	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCTCGCCCCCGAGGGACCAGC	0.657000														42			8		0	0	0.004482	0	0
ARMCX6	54470	broad.mit.edu	37	X	100871242	100871242	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chrX:100871242A>C	uc022cao.1	-	0	369	c.369T>G	c.(367-369)tgT>tgG	p.C123W	ARMCX6_uc022cal.1_Intron|ARMCX6_uc022cam.1_Intron|ARMCX6_uc022can.1_Missense_Mutation_p.C123W|ARMCX6_uc004ehx.3_Missense_Mutation_p.C123W|ARMCX6_uc004ehy.3_Missense_Mutation_p.C123W	NM_019007	NP_061880	Q7L4S7	ARMX6_HUMAN	Homo sapiens armadillo repeat containing, X-linked 6 (ARMCX6), transcript variant 1, mRNA.	123						integral to membrane				endometrium(3)|kidney(1)|liver(2)|lung(3)	9						GGTCCAGAACACAACTGCCAT	0.463000														48			24		0	0	0.003954	0	0
GPR87	53836	broad.mit.edu	37	3	151012467	151012467	+	Silent	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr3:151012467G>A	uc003eyt.2	-	2	928	c.567C>T	c.(565-567)atC>atT	p.I189I	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron	NM_023915	NP_076404	Q9BY21	GPR87_HUMAN	Homo sapiens G protein-coupled receptor 87 (GPR87), mRNA.	189						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGCAGTCATGGATATTGTCCT	0.448000														103			23		0	0	0.002299	0	0
RELN	5649	broad.mit.edu	37	7	103301888	103301888	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr7:103301888C>T	uc022ajr.1	-	11	1536	c.1376G>A	c.(1375-1377)aGg>aAg	p.R459K	RELN_uc022ajq.1_Missense_Mutation_p.R459K|RELN_uc010liz.3_Missense_Mutation_p.R459K	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	459					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)		GCATAATTTCCTCTCTCCATC	0.428000														47			7		0	0	0.001984	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518303	113518303	+	Silent	SNP	C	T	T	rs150965727		TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr7:113518303C>T	uc010ljy.1	-	3	2875	c.2844G>A	c.(2842-2844)acG>acA	p.T948T		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	948					glycogen metabolic process	integral to membrane		p.T948T(6)|p.T948M(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTTCTGATTTCGTAGAAATAG	0.378000														66			11		0	0	0.001368	0	0
LRIG1	26018	broad.mit.edu	37	3	66433732	66433732	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr3:66433732G>A	uc003dmx.3	-	14	2179	c.2165C>T	c.(2164-2166)cCc>cTc	p.P722L	SLC25A26_uc011bft.2_Intron|LRIG1_uc011bfu.2_Missense_Mutation_p.P342L|LRIG1_uc003dmw.3_Missense_Mutation_p.P388L|LRIG1_uc010hnz.3_Missense_Mutation_p.P438L|LRIG1_uc010hoa.3_Missense_Mutation_p.P699L	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 1 (LRIG1), mRNA.	722	Ig-like C2-type 3.					integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GGTGATGCGGGGCGGAGGGTT	0.617000														73			10		0	0	0.008291	0	0
GRIN3A	116443	broad.mit.edu	37	9	104449164	104449164	+	Missense_Mutation	SNP	C	T	T	rs145326290	by1000genomes	TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr9:104449164C>T	uc004bbp.2	-	1	1619	c.1018G>A	c.(1018-1020)Gaa>Aaa	p.E340K	GRIN3A_uc004bbq.1_Missense_Mutation_p.E340K	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	340					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GTTGTAATTTCGAAAATCCGC	0.517000														47			8		0	0	0.003080	0	0
C4BPA	722	broad.mit.edu	37	1	207287606	207287606	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr1:207287606T>C	uc001hfo.3	+	2	498	c.304T>C	c.(304-306)Tgg>Cgg	p.W102R		NM_000715	NP_000706	P04003	C4BPA_HUMAN	Homo sapiens complement component 4 binding protein, alpha (C4BPA), mRNA.	102	Sushi 1.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						TGATGGCGAATGGGTGTATAA	0.393000														93			11		0	0	0.001855	0	0
PRUNE2	158471	broad.mit.edu	37	9	79323049	79323049	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr9:79323049C>G	uc010mpk.3	-	7	4265	c.4141G>C	c.(4141-4143)Ggc>Cgc	p.G1381R	PRUNE2_uc022bih.1_Missense_Mutation_p.G1203R	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	1381					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTGATTTTGCCTGATTTAATG	0.463000														50			6		0	0	0.001984	0	0
COL4A4	1286	broad.mit.edu	37	2	227912256	227912257	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr2:227912256_227912257CC>TT	uc021vxr.1	-	33	3324_3325	c.3223_3224GG>AA	c.(3223-3225)ggt>AAt	p.G1075N	COL4A4_uc021vxs.1_Missense_Mutation_p.G1075N	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1075	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GGCAGGGTCACCTTTGTTTCCT	0.401000														34			7		0	0	0.004672	0	0
DNM3	26052	broad.mit.edu	37	1	172001586	172001586	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr1:172001586G>A	uc001gie.3	+	4	810	c.634G>A	c.(634-636)Gaa>Aaa	p.E212K	DNM3_uc001gid.4_Missense_Mutation_p.E212K|DNM3_uc009wwb.2_Missense_Mutation_p.E212K|DNM3_uc001gif.3_Missense_Mutation_p.E212K	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	Homo sapiens dynamin 3 (DNM3), transcript variant 1, mRNA.	212					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CCTTATGGATGAAGGAACGGA	0.378000														77			48		0	0	0.003610	0	0
FXYD7	53822	broad.mit.edu	37	19	35639627	35639627	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr19:35639627G>A	uc010xsp.1	+	1	146	c.4G>A	c.(4-6)Gtg>Atg	p.V2M	FXYD7_uc002nye.1_Splice_Site_p.D21_splice			P58549	FXYD7_HUMAN	Homo sapiens FXYD domain containing ion transport regulator 7 (FXYD7), mRNA.	0						integral to membrane	ion channel activity			NS(1)|endometrium(1)|lung(1)	3	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;2.32e-21)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;2.43e-18)|LUSC - Lung squamous cell carcinoma(66;0.0849)			TTTTACTATGGTGAGTGTTGG	0.448000														101			15		0	0	0.003163	0	0
PLD5	200150	broad.mit.edu	37	1	242253365	242253365	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr1:242253365C>T	uc001hzn.2	-	10	1629	c.1402G>A	c.(1402-1404)Ggc>Agc	p.G468S	PLD5_uc021pll.1_Missense_Mutation_p.G376S|PLD5_uc001hzl.4_Missense_Mutation_p.G406S|PLD5_uc001hzm.4_Missense_Mutation_p.G260S|PLD5_uc001hzo.2_Missense_Mutation_p.G376S	NM_152666	NP_001182741	Q8N7P1	PLD5_HUMAN	Homo sapiens phospholipase D family, member 5 (PLD5), transcript variant 1, mRNA.	468						integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			ATAACAAGGCCCGTGCCAGCA	0.413000														47			36		0	0	0.003755	0	0
PLA2G4A	5321	broad.mit.edu	37	1	186934597	186934597	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr1:186934597C>T	uc001gsc.3	+	14	1841	c.1636C>T	c.(1636-1638)Cat>Tat	p.H546Y	PLA2G4A_uc010pos.2_Missense_Mutation_p.H486Y	NM_024420	NP_077734	P47712	PA24A_HUMAN	Homo sapiens phospholipase A2, group IVA (cytosolic, calcium-dependent) (PLA2G4A), mRNA.	546	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	TAAAAAGATTCATGTAGTGGA	0.368000														73			7		0	0	0.001984	0	0
UBR2	23304	broad.mit.edu	37	6	42633953	42633953	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr6:42633953C>T	uc011dur.2	+	33	4149	c.3851C>T	c.(3850-3852)cCt>cTt	p.P1284L	UBR2_uc011dus.2_Missense_Mutation_p.P929L|UBR2_uc003osh.3_Non-coding_Transcript	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 2 (UBR2), transcript variant 1, mRNA.	1284					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TTACAGCTCCCTGAAGGGTTC	0.328000														58			13		0	0	0.003163	0	0
AP4E1	23431	broad.mit.edu	37	15	51293323	51293323	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr15:51293323C>T	uc001zyx.2	+	19	3303	c.3196C>T	c.(3196-3198)Cct>Tct	p.P1066S	AP4E1_uc021skz.1_Missense_Mutation_p.P991S|AP4E1_uc010bex.1_Non-coding_Transcript	NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN	Homo sapiens adaptor-related protein complex 4, epsilon 1 subunit (AP4E1), transcript variant 1, mRNA.	1066					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		AGCTGCACTTCCTTCTGCACT	0.353000														120			11		0	0	0.000978	0	0
TLN2	83660	broad.mit.edu	37	15	63111718	63111718	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr15:63111718C>T	uc002alb.4	+	49	6775	c.6775C>T	c.(6775-6777)Ctt>Ttt	p.L2259F	TLN2_uc002alc.4_Missense_Mutation_p.L652F|TLN2_uc010uic.2_5'Flank	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	2259					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CCTGTAGATTCTTCAGAAACC	0.557000														80			33		0	0	0.002836	0	0
SLC16A1	6566	broad.mit.edu	37	1	113460124	113460124	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr1:113460124G>A	uc001ecx.3	-	3	1736	c.904C>T	c.(904-906)Ctt>Ttt	p.L302F	SLC16A1_uc001ecy.3_Missense_Mutation_p.L302F|SLC16A1_uc001ecz.3_Missense_Mutation_p.L302F	NM_001166496	NP_003042	P53985	MOT1_HUMAN	Homo sapiens solute carrier family 16, member 1 (monocarboxylic acid transporter 1) (SLC16A1), transcript variant 2, mRNA.	302					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Pyruvic acid(DB00119)	AGAATGGAAAGAAGGAAGGCA	0.423000														37			5		0	0	0.001984	0	0
PCLO	27445	broad.mit.edu	37	7	82544905	82544905	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr7:82544905G>A	uc003uhx.2	-	6	12686	c.12397C>T	c.(12397-12399)Cgt>Tgt	p.R4133C	PCLO_uc003uhv.2_Missense_Mutation_p.R4133C|PCLO_uc010lec.3_Missense_Mutation_p.R1098C	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4064					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						GTCCCTCTACGAAATTCCTGT	0.408000														61			13		0	0	0.001855	0	0
SUGP2	10147	broad.mit.edu	37	19	19135694	19135694	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr19:19135694G>A	uc002nkz.1	-	2	1525	c.1505C>T	c.(1504-1506)tCc>tTc	p.S502F	SUGP2_uc002nkx.2_Missense_Mutation_p.S488F|SUGP2_uc002nla.1_Missense_Mutation_p.S488F|SUGP2_uc002nlb.2_Missense_Mutation_p.S488F|SUGP2_uc010xqk.1_Missense_Mutation_p.S257F	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	Homo sapiens SURP and G patch domain containing 2 (SUGP2), transcript variant 2, mRNA.	488					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						AGAGGCCAAGGAAAATGTCTG	0.512000														129			23		0	0	0.002780	0	0
OR6K2	81448	broad.mit.edu	37	1	158669934	158669934	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr1:158669934G>A	uc001fsu.1	-	0	509	c.509C>T	c.(508-510)tCg>tTg	p.S170L		NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 2 (OR6K2), mRNA.	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					AAGGTGATTCGAACCACAAAA	0.483000														73			12		0	0	0.001855	0	0
CPSF3	51692	broad.mit.edu	37	2	9576467	9576467	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr2:9576467C>A	uc002qzo.1	+	6	772	c.737C>A	c.(736-738)gCt>gAt	p.A246D	CPSF3_uc010ewx.1_Missense_Mutation_p.A246D|CPSF3_uc002qzp.1_Missense_Mutation_p.A209D	NM_016207	NP_057291	Q9UKF6	CPSF3_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 3, 73kDa (CPSF3), mRNA.	246					histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|RNA binding|endoribonuclease activity|metal ion binding|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		CTTGGAAGGGCTCAGGAGCTG	0.423000														89			11		1.58986e-06	2.29842e-06	0.008291	1	0
MOGS	7841	broad.mit.edu	37	2	74689979	74689980	+	Missense_Mutation	DNP	CA	AC	AC			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr2:74689979_74689980CA>AC	uc010ffj.3	-	3	1099_1100	c.936_937TG>GT	c.(934-939)agtggg>agGTgg	p.312_313SG>RW	MOGS_uc010ffh.3_Missense_Mutation_p.37_38SG>RW|MOGS_uc010yrt.2_Missense_Mutation_p.193_194SG>RW|MOGS_uc010ffi.3_Missense_Mutation_p.206_207SG>RW	NM_006302	NP_001139630	Q13724	MOGS_HUMAN	Homo sapiens mannosyl-oligosaccharide glucosidase (MOGS), transcript variant 1, mRNA.	312					oligosaccharide metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						TGCCCTTGCCCACTTGGACCTC	0.569000														169			26		0	0	0.004672	0	0
CACNA1I	8911	broad.mit.edu	37	22	39966957	39966957	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr22:39966957G>A	uc003ayc.3	+	0	200	c.200G>A	c.(199-201)aGc>aAc	p.S67N	CACNA1I_uc003ayd.3_Missense_Mutation_p.S67N	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	67					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CAGACCACCAGCCCCCGGAAC	0.642000														58			35		0	0	0.004878	0	0
EPGN	255324	broad.mit.edu	37	4	75178754	75178754	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr4:75178754G>A	uc003hic.1	+	3	321	c.274G>A	c.(274-276)Gga>Aga	p.G92R	BC016361_uc003hhv.1_Intron|EPGN_uc003hhw.3_Missense_Mutation_p.G83R|EPGN_uc003hib.1_Missense_Mutation_p.G92R|EPGN_uc003hhy.1_Intron|EPGN_uc003hhz.1_Intron|EPGN_uc010iin.1_Intron|EPGN_uc003hhx.1_Non-coding_Transcript|EPGN_uc003hia.1_Missense_Mutation_p.G83R			Q6UW88	EPGN_HUMAN	Homo sapiens epithelial mitogen homolog (mouse) (EPGN), mRNA.	92	EGF-like.				activation of MAPK activity|angiogenesis|positive regulation of epidermal growth factor receptor activity|positive regulation of epithelial cell proliferation|positive regulation of mitosis	extracellular region|integral to plasma membrane	MAP kinase kinase activity|epidermal growth factor receptor binding|growth factor activity	p.T92I(1)		breast(3)|liver(1)|lung(1)|skin(1)	6			Lung(101;0.196)			TGGTTATACTGGAGAAAGGTG	0.289000														43			7		0	0	0.006214	0	0
NLRP12	91662	broad.mit.edu	37	19	54313967	54313967	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr19:54313967C>T	uc002qcj.4	-	2	1166	c.946G>A	c.(946-948)Gag>Aag	p.E316K	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Missense_Mutation_p.E316K|NLRP12_uc002qci.4_Missense_Mutation_p.E316K|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.E316K	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	316	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GGCCGTTTCTCCTCCCAGCAG	0.562000														50			11		0	0	0.008291	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33955156	33955156	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr1:33955156C>T	uc001bxj.4	+	4	887	c.720C>T	c.(718-720)ctC>ctT	p.L240L	ZSCAN20_uc001bxk.2_Intron|ZSCAN20_uc009vui.3_Silent_p.L240L	NM_145238	NP_660281	P17040	ZSC20_HUMAN	Homo sapiens zinc finger and SCAN domain containing 20 (ZSCAN20), mRNA.	240					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AGAAGGAGCTCTGTAAAGACC	0.547000														69			9		0	0	0.004482	0	0
LILRA1	11024	broad.mit.edu	37	19	55086487	55086487	+	Silent	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr19:55086487G>A	uc010ern.3	+	4	1111	c.642G>A	c.(640-642)gaG>gaA	p.E214E	LILRA1_uc002qgg.4_Silent_p.E214E|LILRA1_uc002qgf.3_Silent_p.E214E|LILRA1_uc010yfe.1_Silent_p.E214E|LILRA1_uc010yff.1_Silent_p.E202E|LILRA1_uc010ero.3_Silent_p.E202E|LILRA1_uc010yfg.1_Silent_p.E214E			O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA.	216	Ig-like C2-type 2.				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)		ATCTCCTGGAGCTCCTGGTCC	0.597000														108			18		0	0	0.004990	0	0
DCHS2	54798	broad.mit.edu	37	4	155241596	155241596	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr4:155241596C>T	uc003inw.2	-	13	3590	c.3590G>A	c.(3589-3591)gGa>gAa	p.G1197E		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	1197	Cadherin 10.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGTTACTTTTCCATTCCTTCC	0.413000														100			23		0	0	0.002299	0	0
LIN54	132660	broad.mit.edu	37	4	83849306	83849306	+	Silent	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr4:83849306G>A	uc003hnx.3	-	12	2577	c.2199C>T	c.(2197-2199)gtC>gtT	p.V733V	LIN54_uc003hnz.3_Silent_p.V512V|LIN54_uc003hny.3_Silent_p.V332V|LIN54_uc010ijt.2_Silent_p.V644V|LIN54_uc010iju.2_Silent_p.V332V|LIN54_uc010ijv.2_Silent_p.V512V	NM_194282	NP_919258	Q6MZP7	LIN54_HUMAN	Homo sapiens lin-54 homolog (C. elegans) (LIN54), transcript variant 1, mRNA.	733					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				CAGAGTTGATGACACTCATCA	0.458000														47			12		0	0	0.001368	0	0
C5AR1	728	broad.mit.edu	37	19	47823988	47823988	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr19:47823988C>T	uc002pgj.1	+	1	1003	c.954C>T	c.(952-954)ctC>ctT	p.L318L		NM_001736	NP_001727	P21730	C5AR_HUMAN	Homo sapiens complement component 5a receptor 1 (C5AR1), mRNA.	318					activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		TCCCCAGCCTCCTCCGGAACG	0.592000														60			11		0	0	0.001368	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502695	140502695	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr5:140502695G>A	uc003lip.1	+	0	1115	c.1115G>A	c.(1114-1116)aGa>aAa	p.R372K		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	372	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATTCGAGATAGAGATTCCGGA	0.403000														105			18		0	0	0.007413	0	0
INHA	3623	broad.mit.edu	37	2	220437184	220437184	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr2:220437184C>T	uc002vmk.2	+	0	231	c.88C>T	c.(88-90)Ctg>Ttg	p.L30L	OBSL1_uc010fwk.3_5'Flank|OBSL1_uc010fwl.2_5'Flank|OBSL1_uc002vmi.3_5'Flank	NM_002191	NP_002182	P05111	INHA_HUMAN	Homo sapiens inhibin, alpha (INHA), mRNA.	30					cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity			large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GGAACTTGTTCTGGCCAAGGT	0.667000											OREG0003991	type=REGULATORY REGION|Gene=BC045558|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		10			7		0	0	0.001984	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39171399	39171399	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr9:39171399G>A	uc004abi.3	-	7	1539	c.1300C>T	c.(1300-1302)Cag>Tag	p.Q434*	CNTNAP3_uc004abj.3_Nonsense_Mutation_p.Q434*|CNTNAP3_uc011lqr.2_Non-coding_Transcript|CNTNAP3_uc004abk.1_Nonsense_Mutation_p.Q434*|CNTNAP3_uc011lqs.1_Nonsense_Mutation_p.Q434*	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.	434	Laminin G-like 2.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TGTCCCGGCTGGAAGAGACTC	0.468000														106			27		0	0	0.004656	0	0
BICC1	80114	broad.mit.edu	37	10	60461895	60461895	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr10:60461895C>T	uc001jki.1	+	2	299	c.299C>T	c.(298-300)tCc>tTc	p.S100F		NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	Homo sapiens bicaudal C homolog 1 (Drosophila) (BICC1), mRNA.	100					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						GGAGCCAAATCCAAGAAAGGT	0.368000														12			3		0	0	0.004672	0	0
MAGEB16	139604	broad.mit.edu	37	X	35820500	35820500	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chrX:35820500G>A	uc010ngt.1	+	1	466	c.187G>A	c.(187-189)Gag>Aag	p.E63K	MAGEB16_uc022bus.1_Missense_Mutation_p.E63K	NM_001099921	NP_001093391	A2A368	MAGBG_HUMAN	Homo sapiens melanoma antigen family B, 16 (MAGEB16), mRNA.	63										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						GAGTCCTCTTGAGGTTCCTCA	0.527000														11			4		0	0	0.000248	0	0
ITGB3	3690	broad.mit.edu	37	17	45360790	45360790	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr17:45360790C>T	uc002ilj.3	+	2	256	c.236C>T	c.(235-237)tCc>tTc	p.S79F	ITGB3_uc002ili.1_Missense_Mutation_p.S79F|ITGB3_uc010wkr.1_Non-coding_Transcript	NM_000212	NP_000203	P05106	ITB3_HUMAN	Homo sapiens integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) (ITGB3), mRNA.	79					activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	GCCCCAGAATCCATCGAGTTC	0.582000														76			11		0	0	0.008291	0	0
HERC2	8924	broad.mit.edu	37	15	28443628	28443628	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr15:28443628G>A	uc001zbj.3	-	49	8013	c.7907C>T	c.(7906-7908)tCt>tTt	p.S2636F	HERC2_uc001zbk.1_Missense_Mutation_p.S171F	NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	2636					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GATGTGAGAAGAAGAACTTGG	0.393000														54			11		0	0	0.000978	0	0
CR1	1378	broad.mit.edu	37	1	207791460	207791460	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr1:207791460G>A	uc001hfy.3	+	33	5724	c.5584G>A	c.(5584-5586)Gga>Aga	p.G1862R	CR1_uc001hfx.3_Missense_Mutation_p.G2312R|CR1_uc021pij.1_Missense_Mutation_p.G1862R	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	1862	Sushi 29.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	p.N1861N(1)		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						TTACATTGGAGGACACGTATC	0.458000														123			13		0	0	0.001368	0	0
EPHA8	2046	broad.mit.edu	37	1	22902712	22902712	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr1:22902712G>A	uc001bfx.1	+	2	287	c.162G>A	c.(160-162)tgG>tgA	p.W54*	EPHA8_uc001bfw.3_Nonsense_Mutation_p.W54*	NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	54						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GCCCACAGTGGGACTCCATCA	0.567000														67			10		0	0	0.008291	0	0
LGR6	59352	broad.mit.edu	37	1	202287105	202287105	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr1:202287105C>T	uc001gxu.3	+	17	1674	c.1674C>T	c.(1672-1674)ctC>ctT	p.L558L	LGR6_uc001gxv.3_Silent_p.L506L|LGR6_uc009xab.3_Non-coding_Transcript|LGR6_uc001gxw.3_Silent_p.L419L	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA.	558						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GTGAGTACCTCTTTGAAAGCT	0.607000														104			6		0	0	0.001168	0	0
CFB	629	broad.mit.edu	37	6	31902153	31902153	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr6:31902153G>A	uc003nye.4	+	5	1190	c.926G>A	c.(925-927)aGa>aAa	p.R309K	CFB_uc003nyc.2_Intron|CFB_uc011doo.2_Intron|CFB_uc011dop.2_Intron|CFB_uc003nyf.3_Intron|CFB_uc010jtk.3_Intron|CFB_uc011doq.2_Intron|CFB_uc011dor.2_Intron|CFB_uc003nyh.2_5'Flank	NM_000063	NP_000054	P00751	CFAB_HUMAN	Homo sapiens complement component 2 (C2), transcript variant 1, mRNA.	0	VWFA.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						CCCCTCCTCAGAACCCCACTC	0.483000														65			13		0	0	0.001368	0	0
TARS2	80222	broad.mit.edu	37	1	150464927	150464927	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr1:150464927C>T	uc001euq.3	+	6	743	c.736C>T	c.(736-738)Cgg>Tgg	p.R246W	TARS2_uc010pcd.1_Non-coding_Transcript|TARS2_uc001eur.3_Missense_Mutation_p.R246W|TARS2_uc009wlt.3_5'UTR|TARS2_uc009wls.3_Intron	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	Homo sapiens threonyl-tRNA synthetase 2, mitochondrial (putative) (TARS2), nuclear gene encoding mitochondrial protein, mRNA.	246					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CCCCCACCTTCGGCATACTGG	0.512000														175			19		0	0	0.002780	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136302909	136302909	+	Silent	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr9:136302909G>A	uc004cdv.4	+	12	1920	c.1476G>A	c.(1474-1476)gaG>gaA	p.E492E	ADAMTS13_uc004cdp.4_Intron|ADAMTS13_uc004cdt.1_Silent_p.E492E|ADAMTS13_uc004cdu.1_Silent_p.E461E|ADAMTS13_uc004cdw.4_Silent_p.E492E|ADAMTS13_uc004cdx.4_Silent_p.E461E|ADAMTS13_uc004cdy.1_Non-coding_Transcript|ADAMTS13_uc004cdz.4_Silent_p.E162E|ADAMTS13_uc004cdr.1_Non-coding_Transcript|ADAMTS13_uc004cds.1_Intron	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 13 (ADAMTS13), transcript variant 1, mRNA.	492					cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CCATTGGCGAGAGCTTCATCA	0.632000														75			14		0	0	0.001855	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21450417	21450417	+	Silent	SNP	G	A	A	rs111579988		TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr12:21450417G>A	uc001rer.3	-	7	1247	c.996C>T	c.(994-996)ttC>ttT	p.F332F	SLCO1A2_uc010siq.2_Silent_p.F200F|SLCO1A2_uc001res.3_Silent_p.F332F|SLCO1A2_uc010sio.2_Silent_p.F200F|SLCO1A2_uc010sip.2_Silent_p.F200F|SLCO1A2_uc001ret.3_Silent_p.F330F|SLCO1A2_uc001reu.2_Silent_p.F312F	NM_021094	NP_602307	P46721	SO1A2_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1A2 (SLCO1A2), transcript variant 2, mRNA.	332					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						TCATGTTAACGAATGCATTGA	0.333000														33			6		0	0	0.001168	0	0
KRT78	196374	broad.mit.edu	37	12	53238396	53238396	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr12:53238396C>T	uc001sbc.1	-	4	932	c.868G>A	c.(868-870)Gag>Aag	p.E290K		NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN	Homo sapiens keratin 78 (KRT78), mRNA.	290	Coil 2.|Rod.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						GCGATCTCCTCGTACCGGGCG	0.627000														51			10		0	0	0.006214	0	0
CHD8	57680	broad.mit.edu	37	14	21876981	21876981	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr14:21876981G>A	uc001war.2	-	10	2433	c.2368C>T	c.(2368-2370)Cgt>Tgt	p.R790C	CHD8_uc001was.2_Missense_Mutation_p.R511C|CHD8_uc001wav.1_5'UTR	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	790	Chromo 2.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|beta-catenin binding|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GCCTGCGGACGATTCTAAAAA	0.368000														14			4		0	0	0.000602	0	0
LIPI	149998	broad.mit.edu	37	21	15538686	15538686	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr21:15538686A>G	uc002yjm.3	-	4	803	c.793T>C	c.(793-795)Tca>Cca	p.S265P	LIPI_uc021whg.1_Non-coding_Transcript|LIPI_uc010gkw.2_Intron|LIPI_uc021whh.1_Missense_Mutation_p.S244P|LIPI_uc021whi.1_Missense_Mutation_p.S79P|LIPI_uc021whj.1_Missense_Mutation_p.S244P|LIPI_uc021whe.1_Missense_Mutation_p.S244P|LIPI_uc021whf.1_Missense_Mutation_p.S244P	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	Homo sapiens lipase, member I (LIPI), mRNA.	244					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		AGTATACCTGAGAAAATTGAT	0.348000														84			22		0	0	0.002780	0	0
PADI3	51702	broad.mit.edu	37	1	17601261	17601261	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr1:17601261C>T	uc001bai.3	+	10	1327	c.1287C>T	c.(1285-1287)ctC>ctT	p.L429L		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA.	429					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GGAGGATCCTCATTGGGGGCA	0.622000											OREG0013148	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		58			16		0	0	0.004007	0	0
C12orf63	374467	broad.mit.edu	37	12	97045530	97045530	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr12:97045530C>T	uc021rcc.1	+	2	390	c.312C>T	c.(310-312)ttC>ttT	p.F104F				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	104										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						TTTTACCATTCTATTTGGGAG	0.318000														37			8		0	0	0.004482	0	0
MCM10	55388	broad.mit.edu	37	10	13214462	13214462	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr10:13214462C>T	uc001ima.3	+	3	564	c.436C>T	c.(436-438)Cgt>Tgt	p.R146C	MCM10_uc001imb.3_Missense_Mutation_p.R146C|MCM10_uc001imc.3_Missense_Mutation_p.R146C	NM_182751	NP_877428	Q7L590	MCM10_HUMAN	Homo sapiens minichromosome maintenance complex component 10 (MCM10), transcript variant 1, mRNA.	146					DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						AAGCCCAGCCCGTCTGCAAAA	0.393000														74			7		0	0	0.001984	0	0
FLJ43860	389690	broad.mit.edu	37	8	142505473	142505473	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr8:142505473C>T	uc003ywi.2	-	2	454	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K	FLJ43860_uc011ljs.1_5'Flank|FLJ43860_uc010meu.1_5'Flank	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	Homo sapiens FLJ43860 protein (FLJ43860), mRNA.	125							binding					all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TGGATGGTTTCCATCACCAGC	0.567000														75			18		0	0	0.008871	0	0
MS4A15	219995	broad.mit.edu	37	11	60541405	60541405	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr11:60541405C>T	uc009ynf.1	+	5	814	c.594C>T	c.(592-594)atC>atT	p.I198I	MS4A15_uc001npx.2_Silent_p.I105I|MS4A15_uc001npy.2_Non-coding_Transcript|MS4A15_uc009yng.1_Silent_p.I157I	NM_001098835	NP_689930	Q8N5U1	M4A15_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 15 (MS4A15), transcript variant 1, mRNA.	198						integral to membrane	receptor activity			breast(1)|large_intestine(2)|lung(3)	6						GCCAAGCCATCCATGCCCAGG	0.607000														50			9		0	0	0.001368	0	0
NALCN	259232	broad.mit.edu	37	13	101714421	101714421	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr13:101714421C>T	uc001vox.1	-	40	4843	c.4654G>A	c.(4654-4656)Gaa>Aaa	p.E1552K		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	1552						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCCAGGAGTTCCTCCAGCTGC	0.562000														42			9		0	0	0.008291	0	0
OSBPL6	114880	broad.mit.edu	37	2	179255833	179255833	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr2:179255833C>T	uc002uly.3	+	22	2954	c.2410C>T	c.(2410-2412)Cag>Tag	p.Q804*	MIR548N_uc021vsx.1_Intron|OSBPL6_uc002ulx.3_Nonsense_Mutation_p.Q779*|OSBPL6_uc010zfe.2_Nonsense_Mutation_p.Q748*|OSBPL6_uc002ulz.3_Nonsense_Mutation_p.Q743*|OSBPL6_uc002uma.3_Nonsense_Mutation_p.Q783*	NM_001201480	NP_001188409	Q9BZF3	OSBL6_HUMAN	Homo sapiens oxysterol binding protein-like 6 (OSBPL6), transcript variant 3, mRNA.	779					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			GAATGAAGTCCAGGGGGTGGT	0.458000														76			19		0	0	0.008871	0	0
PDXDC2P	283970	broad.mit.edu	37	16	70016296	70016296	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr16:70016296G>A	uc010vlq.1	-	3	584	c.406C>T	c.(406-408)Cat>Tat	p.H136Y	CLEC18A_uc002exy.3_Intron|PDXDC2P_uc002eyb.3_Non-coding_Transcript|PDXDC2P_uc002eyc.3_Non-coding_Transcript					Homo sapiens pyridoxal-dependent decarboxylase domain containing 2, pseudogene (PDXDC2P), non-coding RNA.																		TTGTAATGATGGTTGACTTTC	0.378000														43			13		0	0	0.001368	0	0
LOC399815	399815	broad.mit.edu	37	10	124647906	124647906	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr10:124647906T>C	uc001lgu.3	+	6	1173	c.275T>C	c.(274-276)tTc>tCc	p.F92S	LOC399815_uc010qua.1_Missense_Mutation_p.F54S					Homo sapiens chromosome 10 open reading frame 88 pseudogene (LOC399815), non-coding RNA.																		TCCACACCTTTCCCTTTTAGA	0.438000														8			5		0	0	0.000602	0	0
OR52E6	390078	broad.mit.edu	37	11	5863024	5863024	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr11:5863024G>A	uc010qzq.2	-	0	104	c.104C>T	c.(103-105)tCt>tTt	p.S35F	TRIM5_uc001mbq.1_Intron	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 6 (OR52E6), mRNA.	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGATACACAGAGAAAAAAGG	0.468000														68			13		0	0	0.001368	0	0
MYCBP2	23077	broad.mit.edu	37	13	77852997	77852997	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr13:77852997C>T	uc021rks.1	-	3	911	c.644G>A	c.(643-645)cGa>cAa	p.R215Q	MYCBP2_uc010aev.3_5'UTR	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	177					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ATGAGAAAATCGTGTCTCTTT	0.438000														49			7		0	0	0.006214	0	0
MAGEB1	4112	broad.mit.edu	37	X	30269259	30269259	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chrX:30269259G>A	uc022buh.1	+	0	649	c.649G>A	c.(649-651)Gag>Aag	p.E217K	MAGEB1_uc004dcc.3_Missense_Mutation_p.E217K|MAGEB1_uc004dcd.3_Missense_Mutation_p.E217K|MAGEB1_uc004dce.3_Missense_Mutation_p.E217K	NM_177415	NP_803134	P43366	MAGB1_HUMAN	Homo sapiens melanoma antigen family B, 1 (MAGEB1), transcript variant 3, mRNA.	217	MAGE.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						CTCTGCCACCGAGGAAGAGAT	0.488000														24			6		0	0	0.001168	0	0
WDR17	116966	broad.mit.edu	37	4	177056427	177056427	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr4:177056427G>A	uc003iuj.3	+	9	1642	c.1339_splice	c.e9+1	p.G447_splice	WDR17_uc003ium.4_Splice_Site_p.G423_splice|WDR17_uc003iul.2_Intron	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	Homo sapiens WD repeat domain 17 (WDR17), transcript variant 1, mRNA.	447										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TTGGGCTCCAGGTAAGAGATA	0.333000														68			5		0	0	0.001168	0	0
AQP7	364	broad.mit.edu	37	9	33395188	33395188	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr9:33395188G>A	uc003zst.3	-	2	204	c.32C>T	c.(31-33)aCc>aTc	p.T11I	AQP7_uc003zsu.1_Intron|AQP7_uc010mjs.2_5'Flank|AQP7_uc010mjt.2_5'UTR|AQP7_uc011lny.1_Missense_Mutation_p.T10I|AQP7_uc003zss.3_5'UTR|AQP7_uc011lnz.1_5'UTR|AQP7_uc011loa.1_5'UTR|AQP7_uc011lnx.1_Missense_Mutation_p.T11I	NM_001170	NP_001161	O14520	AQP7_HUMAN	Homo sapiens aquaporin 7 (AQP7), mRNA.	11					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		GGAGCCACGGGTGGACCTAAG	0.542000														25			7		0	0	0.003080	0	0
DHPS	1725	broad.mit.edu	37	19	12790530	12790530	+	Silent	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr19:12790530G>A	uc002muh.2	-	3	619	c.498C>T	c.(496-498)atC>atT	p.I166I	DHPS_uc002mug.2_Silent_p.I124I|DHPS_uc002mui.2_Silent_p.I166I|DHPS_uc002muk.2_Non-coding_Transcript|DHPS_uc010xmn.2_Non-coding_Transcript	NM_001930	NP_001921	P49366	DHYS_HUMAN	Homo sapiens deoxyhypusine synthase (DHPS), transcript variant 1, mRNA.	166					peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|post-translational protein modification|spermidine catabolic process to deoxyhypusine, using deoxyhypusine synthase|translation	cytosol	deoxyhypusine synthase activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8					Sulfadoxine(DB01299)	GCAGGTTTCCGATCCTGAGAA	0.562000														91			22		0	0	0.001882	0	0
CLVS2	134829	broad.mit.edu	37	6	123369870	123369870	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr6:123369870G>A	uc003pzi.1	+	3	1537	c.668G>A	c.(667-669)cGg>cAg	p.R223Q		NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN	Homo sapiens clavesin 2 (CLVS2), mRNA.	223	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						GAGAAAACTCGGAAAAGGGTA	0.378000														107			17		0	0	0.004007	0	0
ANK1	286	broad.mit.edu	37	8	41555611	41555611	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr8:41555611G>A	uc003xok.3	-	23	2671	c.2587C>T	c.(2587-2589)Ccc>Tcc	p.P863S	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.P179S|ANK1_uc003xoi.3_Missense_Mutation_p.P863S|ANK1_uc003xoj.3_Missense_Mutation_p.P863S|ANK1_uc003xol.3_Missense_Mutation_p.P863S|ANK1_uc003xom.3_Missense_Mutation_p.P904S	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	863					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			ATGGCACAGGGAATCCTGGGG	0.562000														33			12		0	0	0.003163	0	0
C20orf194	25943	broad.mit.edu	37	20	3303332	3303332	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr20:3303332G>A	uc002wii.2	-	14	1328	c.1277C>T	c.(1276-1278)aCt>aTt	p.T426I	C20orf194_uc002wij.3_Missense_Mutation_p.T165I|C20orf194_uc002wik.2_Missense_Mutation_p.T100I|C20orf194_uc010gay.1_Non-coding_Transcript	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	Homo sapiens chromosome 20 open reading frame 194 (C20orf194), mRNA.	426										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						TATATGAAAAGTCATCTTGGA	0.443000														218			149		0	0	0.003610	0	0
ITPR2	3709	broad.mit.edu	37	12	26636832	26636832	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr12:26636832C>T	uc001rhg.3	-	42	6229	c.5812_splice	c.e42-1	p.N1938_splice	ITPR2_uc009zjg.1_Splice_Site_p.N89_splice	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	1938					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TCAAGAAGTTCTGAAGGCAAA	0.378000														75			15		0	0	0.002450	0	0
ANK3	288	broad.mit.edu	37	10	61830301	61830301	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr10:61830301C>T	uc001jky.3	-	36	10676	c.10338G>A	c.(10336-10338)tgG>tgA	p.W3446*	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	3446					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CCTCTGTGTTCCAGATATCTT	0.458000														42			6		0	0	0.001168	0	0
CENPE	1062	broad.mit.edu	37	4	104068603	104068604	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr4:104068603_104068604GG>AA	uc003hxb.1	-	28	4133_4134	c.4043_4044CC>TT	c.(4042-4044)acc>aTT	p.T1348I	CENPE_uc003hxc.1_Missense_Mutation_p.T1323I	NM_001813	NP_001804	Q02224	CENPE_HUMAN	Homo sapiens centromere protein E, 312kDa (CENPE), mRNA.	1348					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CTCTTTCCTTGGTTAGAGATTT	0.366000														70			7		0	0	0.004672	0	0
COL18A1	80781	broad.mit.edu	37	21	46900420	46900420	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr21:46900420C>T	uc002zhi.3	+	10	1999	c.1978C>T	c.(1978-1980)Ctg>Ttg	p.L660L	COL18A1_uc002zhg.3_Silent_p.L480L	NM_030582	NP_085059	P39060	COIA1_HUMAN	Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.	895	Nonhelical region 1 (NC1).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CGGGGGCGATCTGGAGGCCCT	0.632000														62			16		0	0	0.006122	0	0
TCOF1	6949	broad.mit.edu	37	5	149743776	149743776	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr5:149743776G>A	uc003lry.3	+	2	373	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K	TCOF1_uc003lrw.3_Missense_Mutation_p.E89K|TCOF1_uc003lrz.3_Missense_Mutation_p.E89K|TCOF1_uc011dch.2_Missense_Mutation_p.E89K|TCOF1_uc003lrx.3_Missense_Mutation_p.E89K|TCOF1_uc003lsa.3_Missense_Mutation_p.E89K	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	Homo sapiens Treacher Collins-Franceschetti syndrome 1 (TCOF1), transcript variant 4, mRNA.	89	Poly-Glu.				skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGAGAGCTCGGAAGAGGAGGA	0.532000														62			8		0	0	0.006214	0	0
PCSK2	5126	broad.mit.edu	37	20	17434548	17434548	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr20:17434548C>T	uc002wpm.3	+	8	1401	c.1047C>T	c.(1045-1047)tcC>tcT	p.S349S	PCSK2_uc002wpl.3_Silent_p.S330S|PCSK2_uc010zrm.2_Silent_p.S314S	NM_002594	NP_001188457	P16519	NEC2_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 2 (PCSK2), transcript variant 1, mRNA.	349	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GCTGCTCTTCCACCTTGGCTT	0.597000														87			7		0	0	0.001984	0	0
IL24	11009	broad.mit.edu	37	1	207074886	207074886	+	Silent	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr1:207074886G>A	uc001heu.2	+	4	629	c.354G>A	c.(352-354)ttG>ttA	p.L118L	IL24_uc001hes.2_Silent_p.L117L|IL24_uc001hew.2_Intron|IL24_uc001hex.2_Intron|IL24_uc001hev.2_Non-coding_Transcript	NM_001185156	NP_001172085	Q13007	IL24_HUMAN	Homo sapiens interleukin 24 (IL24), transcript variant 3, mRNA.	117					apoptosis	extracellular space	cytokine activity			endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12	Breast(84;0.201)					AGTTCTACTTGAAAACTGTTT	0.498000														33			27		0	0	0.007291	0	0
TRPC5	7224	broad.mit.edu	37	X	111095588	111095588	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chrX:111095588C>T	uc004epl.1	-	4	2234	c.1315G>A	c.(1315-1317)Gat>Aat	p.D439N	TRPC5_uc004epm.1_Missense_Mutation_p.D439N	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	439					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						ATTGCAAAATCCATCAGGTTC	0.423000														29			10		0	0	0.006214	0	0
ACIN1	22985	broad.mit.edu	37	14	23549485	23549485	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr14:23549485C>T	uc001wit.4	-	5	1561	c.1233G>A	c.(1231-1233)gaG>gaA	p.E411E	ACIN1_uc001wis.4_Silent_p.E93E|ACIN1_uc010akg.3_Silent_p.E411E|ACIN1_uc010tnj.2_Silent_p.E371E	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	Homo sapiens apoptotic chromatin condensation inducer 1 (ACIN1), transcript variant 1, mRNA.	411	Glu-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GAGTCTCCTCCTCGCTGGCAG	0.512000														60			12		0	0	0.001855	0	0
DMRT1	1761	broad.mit.edu	37	9	847071	847072	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr9:847071_847072CC>TT	uc003zgv.3	+	1	615_616	c.466_467CC>TT	c.(466-468)ccg>TTg	p.P156L	DMRT1_uc003zgu.1_Missense_Mutation_p.P156L	NM_021951	NP_068770	Q9Y5R6	DMRT1_HUMAN	Homo sapiens doublesex and mab-3 related transcription factor 1 (DMRT1), mRNA.	156					cell differentiation|male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		TGGCAGTAACCCGTGCCTCATG	0.609000														44			12		0	0	0.004672	0	0
HS2ST1	9653	broad.mit.edu	37	1	87380800	87380800	+	Silent	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr1:87380800G>A	uc010osk.2	+	0	466	c.81G>A	c.(79-81)ttG>ttA	p.L27L	HS2ST1_uc001dmc.4_Silent_p.L27L|SEP15_uc021oph.1_5'Flank|SEP15_uc021opi.1_5'Flank	NM_012262	NP_036394	Q7LGA3	HS2ST_HUMAN	Homo sapiens heparan sulfate 2-O-sulfotransferase 1 (HS2ST1), transcript variant 1, mRNA.	27						Golgi membrane|integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)	9		Lung NSC(277;0.153)		all cancers(265;0.00699)|Epithelial(280;0.0261)		TGCTCTTCTTGGAAAACCAGA	0.622000														64			15		0	0	0.003163	0	0
OR10H1	26539	broad.mit.edu	37	19	15918054	15918054	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr19:15918054C>T	uc002nbq.2	-	0	883	c.794G>A	c.(793-795)aGt>aAt	p.S265N		NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 1 (OR10H1), mRNA.	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						AGACTGGGGACTTTTGGGCTT	0.562000														51			11		0	0	0.008291	0	0
GPR35	2859	broad.mit.edu	37	2	241569855	241569855	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr2:241569855C>T	uc010fzi.2	+	5	1451	c.579C>T	c.(577-579)tgC>tgT	p.C193C	GPR35_uc010fzh.2_Silent_p.C193C|GPR35_uc021vze.1_Silent_p.C162C|GPR35_uc002vzs.2_Silent_p.C162C	NM_001195381	NP_001182310	Q9HC97	GPR35_HUMAN	Homo sapiens G protein-coupled receptor 35 (GPR35), transcript variant 2, mRNA.	162						integral to plasma membrane	G-protein coupled receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		GCGGCTTCTGCTTCAGGAGCA	0.662000														29			15		0	0	0.003163	0	0
HTR3D	200909	broad.mit.edu	37	3	183756725	183756725	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr3:183756725T>C	uc011bqv.2	+	7	1327	c.1327T>C	c.(1327-1329)Tcc>Ccc	p.S443P	HTR3D_uc003fmj.3_Missense_Mutation_p.S268P|HTR3D_uc011bqu.2_Missense_Mutation_p.S393P|HTR3D_uc010hxp.3_Missense_Mutation_p.S222P	NM_001163646	NP_001157118	Q70Z44	5HT3D_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3 family member D (HTR3D), transcript variant 3, mRNA.	443						integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CTTCATGGCCTCCTCCATCAT	0.572000														102			7		0	0	0.006214	0	0
C8A	731	broad.mit.edu	37	1	57378168	57378168	+	Silent	SNP	G	A	A	rs148316319		TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr1:57378168G>A	uc001cyo.2	+	9	1605	c.1473G>A	c.(1471-1473)ctG>ctA	p.L491L		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	491	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						ACCAGTATCTGATGGAATTCA	0.637000														77			21		0	0	0.002780	0	0
PDPR	55066	broad.mit.edu	37	16	70172811	70172811	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr16:70172811C>T	uc002eyf.1	+	10	2157	c.1200C>T	c.(1198-1200)gcC>gcT	p.A400A	CLEC18A_uc002exy.3_Intron|PDPR_uc010vlr.1_Silent_p.A300A|PDPR_uc002eyg.1_Silent_p.A128A	NM_017990	NP_060460	Q8NCN5	PDPR_HUMAN	Homo sapiens pyruvate dehydrogenase phosphatase regulatory subunit (PDPR), mRNA.	400					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		GGTACCTTGCCGAATGGATGG	0.468000														84			7		0	0	0.003080	0	0
SLC6A11	6538	broad.mit.edu	37	3	10916718	10916718	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr3:10916718G>A	uc003bvz.3	+	5	863	c.829G>A	c.(829-831)Ggg>Agg	p.G277R		NM_014229	NP_055044	P48066	S6A11_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 11 (SLC6A11), mRNA.	277					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		CACGTTGCCCGGGGCCTCAGA	0.562000														124			20		0	0	0.001882	0	0
CHRNA6	8973	broad.mit.edu	37	8	42612105	42612105	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr8:42612105T>C	uc003xpj.3	-	3	696	c.340A>G	c.(340-342)Aag>Gag	p.K114E	CHRNA6_uc011lcw.2_Missense_Mutation_p.K99E	NM_004198	NP_004189	Q15825	ACHA6_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 6 (CHRNA6), transcript variant 1, mRNA.	114						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TTCCAAATCTTATCTGCAGGA	0.413000														71			13		0	0	0.003163	0	0
KIAA1045	23349	broad.mit.edu	37	9	34972400	34972400	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr9:34972400C>T	uc003zvq.3	+	2	614	c.436C>T	c.(436-438)Ccg>Tcg	p.P146S	KIAA1045_uc003zvr.3_Missense_Mutation_p.P146S	NM_015297	NP_056112	Q9UPV7	K1045_HUMAN	Homo sapiens KIAA1045 (KIAA1045), mRNA.	146							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			GAGCCTCTTCCCGTGCAGGGT	0.557000														115			23		0	0	0.003330	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121612657	121612657	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr7:121612657G>A	uc003vjy.3	+	3	762	c.367G>A	c.(367-369)Gca>Aca	p.A123T	PTPRZ1_uc011knt.2_Missense_Mutation_p.A123T|PTPRZ1_uc003vjz.3_Missense_Mutation_p.A123T	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	123	Alpha-carbonic anhydrase.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GGTGTTTAAAGCAAGCAAGAT	0.368000														60			15		0	0	0.003163	0	0
abParts	0	broad.mit.edu	37	14	106866454	106866454	+	RNA	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr14:106866454C>T	uc021ser.1	-	432		c.13766G>A								Parts of antibodies, mostly variable regions.																		TCAGGTTGTTCATTTGAAGAT	0.507000														107			13		0	0	0.003163	0	0
FAM70B	348013	broad.mit.edu	37	13	114514837	114514837	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr13:114514837C>T	uc001vuh.3	+	8	969	c.942C>T	c.(940-942)taC>taT	p.Y314Y		NM_182614	NP_872420	Q8WV15	FA70B_HUMAN	Homo sapiens family with sequence similarity 70, member B (FAM70B), mRNA.	314	Pro-rich.					integral to membrane				upper_aerodigestive_tract(1)	1	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.123)|all_epithelial(44;0.133)	all cancers(43;0.181)			CACCCACCTACTTTCCCCCGG	0.567000														139			19		0	0	0.001523	0	0
ANK3	288	broad.mit.edu	37	10	61846616	61846616	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr10:61846616C>T	uc001jky.3	-	29	3905	c.3567G>A	c.(3565-3567)gtG>gtA	p.V1189V	ANK3_uc001jkw.3_Silent_p.V323V|ANK3_uc009xpa.3_Silent_p.V323V|ANK3_uc001jkx.3_Silent_p.V367V|ANK3_uc010qih.2_Silent_p.V1190V|ANK3_uc001jkz.4_Silent_p.V1183V|ANK3_uc001jla.1_Silent_p.V255V|ANK3_uc001jlb.1_Silent_p.V707V	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1189					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GGATCTTTTTCACAATTTCAT	0.373000														37			13		0	0	0.001368	0	0
SUGP1	57794	broad.mit.edu	37	19	19408092	19408092	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr19:19408092G>A	uc002nmh.3	-	7	965	c.949C>T	c.(949-951)Cgg>Tgg	p.R317W	SUGP1_uc002nmf.3_5'UTR|SUGP1_uc002nmg.3_5'UTR|SUGP1_uc002nmi.3_Missense_Mutation_p.R107W|SUGP1_uc002nmj.3_Missense_Mutation_p.R107W|SUGP1_uc010xqr.2_Non-coding_Transcript	NM_172231	NP_757386	Q8IWZ8	SUGP1_HUMAN	Homo sapiens SURP and G patch domain containing 1 (SUGP1), mRNA.	317					nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						TTGGCTTTCCGGAACTCCTCC	0.602000														80			10		0	0	0.000978	0	0
FBXO24	26261	broad.mit.edu	37	7	100198504	100198504	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr7:100198504C>T	uc011kjz.1	+	9	1907	c.1839C>T	c.(1837-1839)ccC>ccT	p.P613P	FBXO24_uc003uvm.1_Silent_p.P575P|FBXO24_uc003uvn.1_Silent_p.P213P|LOC100129845_uc011kjy.2_Intron|FBXO24_uc011kka.1_Silent_p.P563P|LOC100129845_uc022air.1_Intron|PCOLCE_uc011kkb.1_5'Flank|PCOLCE_uc003uvo.3_5'Flank	NM_012172	NP_036304	O75426	FBX24_HUMAN	Homo sapiens F-box protein 24 (FBXO24), transcript variant 3, mRNA.	575						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GTGTAGGGCCCCCAGCCCCTG	0.632000														48			6		0	0	0.001984	0	0
NKD1	85407	broad.mit.edu	37	16	50667112	50667112	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr16:50667112C>T	uc002egg.2	+	9	1057	c.833C>T	c.(832-834)tCc>tTc	p.S278F		NM_033119	NP_149110	Q969G9	NKD1_HUMAN	Homo sapiens naked cuticle homolog 1 (Drosophila) (NKD1), mRNA.	278					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding	p.S278>?(2)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		GGCTCCCCTTCCGTGGCCCAG	0.592000														52			9		0	0	0.006214	0	0
PTPRH	5794	broad.mit.edu	37	19	55702912	55702912	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr19:55702912T>G	uc002qjq.3	-	11	2414	c.2341A>C	c.(2341-2343)Aag>Cag	p.K781Q	PTPRH_uc010esv.3_Missense_Mutation_p.K603Q|BC034929_uc002qjr.3_Intron	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.	781			K -> N (in dbSNP:rs2288523).		apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TGCTTCTTCTTATTCCTGGGA	0.552000														160			35		0	0	0.004289	0	0
CTNNA2	1496	broad.mit.edu	37	2	79878712	79878712	+	Silent	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr2:79878712G>A	uc010ysh.2	+	0	35	c.30G>A	c.(28-30)ctG>ctA	p.L10L	CTNNA2_uc010yse.2_Silent_p.L10L|CTNNA2_uc010ysf.2_Silent_p.L10L|CTNNA2_uc010ysg.2_Silent_p.L10L|MIR4264_uc021vjs.1_5'Flank	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	10					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CTATCATTCTGAAATGGGACC	0.408000														81			22		0	0	0.002780	0	0
AGAP7	653268	broad.mit.edu	37	10	51464844	51464844	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr10:51464844C>T	uc001jio.3	-	6	1738	c.1612G>A	c.(1612-1614)Gaa>Aaa	p.E538K	PARG_uc001jih.3_Intron|TIMM23_uc010qha.2_Intron|TIMM23_uc001jin.3_Intron|TIMM23_uc010qhb.2_Intron|TIMM23_uc010qhc.2_Intron|DQ588224_uc021pqk.1_5'Flank	NM_001077685	NP_001071153	Q5VUJ5	AGAP7_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 7 (AGAP7), mRNA.	538	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						TCCTTCTCTTCCCTCGTGGAC	0.567000														136			18		0	0	0.001882	0	0
ZNF479	90827	broad.mit.edu	37	7	57188025	57188025	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr7:57188025G>A	uc010kzo.3	-	4	1368	c.1097C>T	c.(1096-1098)tCg>tTg	p.S366L		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	Homo sapiens zinc finger protein 479 (ZNF479), mRNA.	366					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S366L(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			CATAAGGTTCGAGGATAAGCT	0.443000														25			4		0	0	0.000248	0	0
TRPM6	140803	broad.mit.edu	37	9	77343253	77343253	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr9:77343253C>T	uc004ajl.1	-	37	6075	c.5837G>A	c.(5836-5838)gGa>gAa	p.G1946E	TRPM6_uc004ajk.1_Missense_Mutation_p.G1941E|TRPM6_uc022bib.1_Missense_Mutation_p.G1941E|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Missense_Mutation_p.G897E|TRPM6_uc010mpd.1_Missense_Mutation_p.G779E|TRPM6_uc010mpe.1_Missense_Mutation_p.G493E|TRPM6_uc004ajj.1_Missense_Mutation_p.G902E	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1946	Alpha-type protein kinase.				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AAACACCATTCCTCTTGATCT	0.428000														38			6		0	0	0.003080	0	0
KIAA1383	54627	broad.mit.edu	37	1	232943108	232943108	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr1:232943108G>A	uc001hvh.2	+	0	2471	c.2339G>A	c.(2338-2340)gGa>gAa	p.G780E		NM_019090	NP_061963	Q9P2G4	K1383_HUMAN	Homo sapiens KIAA1383 (KIAA1383), mRNA.	638	Ser-rich.									breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)	20		all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169)				ATTCTGGGAGGAAATGTGGAA	0.353000														101			62		0	0	0.003610	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37732621	37732621	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr8:37732621G>A	uc003xkm.2	-	2	1090	c.1034C>T	c.(1033-1035)tCc>tTc	p.S345F	RAB11FIP1_uc003xkn.2_Missense_Mutation_p.S345F|RAB11FIP1_uc003xkl.2_5'Flank|RAB11FIP1_uc003xko.1_5'Flank|RAB11FIP1_uc003xkp.1_Missense_Mutation_p.S193F	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA.	345					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GCCCTTGGGGGATGGGGAGGA	0.547000														327			46		0	0	0.003610	0	0
ASH1L	55870	broad.mit.edu	37	1	155449530	155449530	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr1:155449530G>C	uc009wqq.3	-	2	3611	c.3131C>G	c.(3130-3132)aCc>aGc	p.T1044S	ASH1L_uc001fkt.3_Missense_Mutation_p.T1044S|ASH1L_uc009wqr.1_Missense_Mutation_p.T1044S	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	1044					DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	p.G1043R(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TATATAAATGGTTCCTTTCTT	0.403000														57			32		0	0	0.002445	0	0
GABRP	2568	broad.mit.edu	37	5	170236578	170236578	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr5:170236578C>T	uc003mau.3	+	8	1037	c.839C>T	c.(838-840)aCg>aTg	p.T280M	GABRP_uc011dev.2_Intron	NM_014211	NP_055026	O00591	GBRP_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, pi (GABRP), mRNA.	280						cell junction|chloride channel complex|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCAGGAGTGACGACCGTGTTA	0.532000											OREG0017032	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		109			20		0	0	0.008871	0	0
PLCB4	5332	broad.mit.edu	37	20	9391708	9391708	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr20:9391708G>A	uc021wam.1	+	20	2003	c.1988G>A	c.(1987-1989)gGa>gAa	p.G663E	PLCB4_uc010gbw.1_Missense_Mutation_p.G663E|PLCB4_uc010gbx.3_Missense_Mutation_p.G675E|PLCB4_uc021wal.1_Missense_Mutation_p.G663E|PLCB4_uc002wnh.3_Missense_Mutation_p.G510E	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	663	PI-PLC Y-box.				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						TTGAATCAGGGAAAATTTGAG	0.368000														103			5		0	0	0.001984	0	0
TAF2	6873	broad.mit.edu	37	8	120744176	120744176	+	Silent	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr8:120744176G>A	uc003you.3	-	25	3858	c.3588C>T	c.(3586-3588)tcC>tcT	p.S1196S		NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	Homo sapiens TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa (TAF2), mRNA.	1196					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AGTCTGAAAGGGAAGGAGAAC	0.428000														57			7		0	0	0.001984	0	0
ROBO1	6091	broad.mit.edu	37	3	78711157	78711157	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr3:78711157C>T	uc003dqe.2	-	14	2282	c.2074G>A	c.(2074-2076)Gaa>Aaa	p.E692K	ROBO1_uc003dqc.2_Missense_Mutation_p.E656K|ROBO1_uc003dqd.2_Missense_Mutation_p.E656K|ROBO1_uc003dqb.2_Missense_Mutation_p.E653K|ROBO1_uc010hoh.2_5'UTR|ROBO1_uc011bgl.1_Missense_Mutation_p.E264K|ROBO1_uc003dqf.1_Missense_Mutation_p.E371K	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA.	692	Fibronectin type-III 2.				Roundabout signaling pathway|activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis	cell surface|cytoplasm|integral to plasma membrane	LRR domain binding|axon guidance receptor activity|identical protein binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CAGTGCACTTCGATGGAAGAG	0.463000														15			4		0	0	0.000248	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140167893	140167893	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr5:140167893G>A	uc003lhb.2	+	0	2018	c.2018G>A	c.(2017-2019)gGc>gAc	p.G673D	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lgz.3_Missense_Mutation_p.G673D	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	682	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGAGAGCGGCCAGGCGCCA	0.657000														47			7		0	0	0.003080	0	0
ZNF317	57693	broad.mit.edu	37	19	9272087	9272087	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr19:9272087C>T	uc002mku.3	+	6	2071	c.1766C>T	c.(1765-1767)tCc>tTc	p.S589F	ZNF317_uc002mkv.3_Missense_Mutation_p.S448F|ZNF317_uc002mkw.3_Missense_Mutation_p.S557F|ZNF317_uc002mkx.3_Missense_Mutation_p.S504F|ZNF317_uc002mky.3_Missense_Mutation_p.S472F	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN	Homo sapiens zinc finger protein 317 (ZNF317), transcript variant 1, mRNA.	589					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						TTTGTGTCATCCGTGTGGAAA	0.552000														68			12		0	0	0.001368	0	0
RGS18	64407	broad.mit.edu	37	1	192153620	192153620	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr1:192153620G>A	uc001gsg.3	+	4	820	c.644G>A	c.(643-645)cGa>cAa	p.R215Q		NM_130782	NP_570138	Q9NS28	RGS18_HUMAN	Homo sapiens regulator of G-protein signaling 18 (RGS18), mRNA.	215					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.R214G(1)		kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTTAGGAGACGATCACGCTCA	0.358000														35			26		0	0	0.004656	0	0
SLC8A1	6546	broad.mit.edu	37	2	40656328	40656328	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr2:40656328G>A	uc002rrx.3	-	0	1117	c.1093C>T	c.(1093-1095)Cgc>Tgc	p.R365C	SLC8A1_uc002rry.3_Missense_Mutation_p.R365C|SLC8A1_uc002rsb.2_Missense_Mutation_p.R365C|SLC8A1_uc002rrz.3_Missense_Mutation_p.R365C|SLC8A1_uc002rsa.3_Missense_Mutation_p.R365C|SLC8A1_uc002rsd.4_Missense_Mutation_p.R365C|SLC8A1_uc010fan.1_Missense_Mutation_p.R365C|SLC8A1_uc002rsc.1_Missense_Mutation_p.R365C	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	365					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	p.R365L(1)|p.R365H(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GCTTGAATGCGATAAAATGCT	0.433000														73			13		0	0	0.002450	0	0
LRRC8E	80131	broad.mit.edu	37	19	7964838	7964838	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr19:7964838C>T	uc002mir.3	+	2	1532	c.1431C>T	c.(1429-1431)tcC>tcT	p.S477S		NM_025061	NP_079337	Q6NSJ5	LRC8E_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member E (LRRC8E), mRNA.	477						integral to membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						TACCCTTCTCCTTGCAGGTCT	0.642000														20			4		0	0	0.000248	0	0
NUP210L	91181	broad.mit.edu	37	1	154091161	154091161	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr1:154091161G>A	uc001fdw.3	-	10	1522	c.1450C>T	c.(1450-1452)Cgt>Tgt	p.R484C	NUP210L_uc009woq.3_5'UTR|NUP210L_uc010peh.2_Missense_Mutation_p.R484C	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	484						integral to membrane		p.R484C(2)|p.R484H(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			ACTTTATAACGATATAACATT	0.328000														187			23		0	0	0.002780	0	0
SHH	6469	broad.mit.edu	37	7	155604594	155604594	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr7:155604594C>T	uc003wmk.1	-	0	374	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K	SHH_uc003wmh.1_5'Flank|SHH_uc003wmi.1_5'Flank|SHH_uc003wmj.1_5'Flank	NM_000193	NP_000184	Q15465	SHH_HUMAN	Homo sapiens sonic hedgehog (SHH), mRNA.	75					CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of T cell differentiation in thymus|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding			central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGGGTGAGTTCCTTAAATCGC	0.527000														207			37		0	0	0.004878	0	0
IKZF3	22806	broad.mit.edu	37	17	37922195	37922195	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr17:37922195G>A	uc002hsu.3	-	7	1440	c.1378C>T	c.(1378-1380)Ctc>Ttc	p.L460F	IKZF3_uc002htd.3_Missense_Mutation_p.L426F|IKZF3_uc010cwd.3_Missense_Mutation_p.L317F|IKZF3_uc002hsv.3_Missense_Mutation_p.L387F|IKZF3_uc010cwe.3_Missense_Mutation_p.L326F|IKZF3_uc010cwf.3_Missense_Mutation_p.L278F|IKZF3_uc010cwg.3_Missense_Mutation_p.L239F|IKZF3_uc002hsw.3_Missense_Mutation_p.L421F|IKZF3_uc002hsx.3_Missense_Mutation_p.L404F|IKZF3_uc002hsy.3_Missense_Mutation_p.L421F|IKZF3_uc002hsz.3_Missense_Mutation_p.L365F|IKZF3_uc002hta.3_Missense_Mutation_p.L382F|IKZF3_uc002htb.3_Non-coding_Transcript|IKZF3_uc010cwh.3_Missense_Mutation_p.L373F|IKZF3_uc002htc.3_Missense_Mutation_p.L213F|IKZF3_uc010wel.2_Missense_Mutation_p.L213F	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	Homo sapiens IKAROS family zinc finger 3 (Aiolos) (IKZF3), transcript variant 1, mRNA.	460					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TCCAGGAAGAGGACGCGGCAG	0.542000														88			8		0	0	0.003080	0	0
RAPH1	65059	broad.mit.edu	37	2	204305768	204305768	+	Silent	SNP	A	G	G			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr2:204305768A>G	uc002vad.3	-	13	2370	c.2145T>C	c.(2143-2145)ccT>ccC	p.P715P		NM_213589	NP_998754	Q70E73	RAPH1_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 (RAPH1), transcript variant 1, mRNA.	715					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ggggtggaggagggggagggg	0.622000														28			5		0	0	0.003080	0	0
SDPR	8436	broad.mit.edu	37	2	192700988	192700988	+	Silent	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr2:192700988G>A	uc002utb.3	-	1	1294	c.939C>T	c.(937-939)acC>acT	p.T313T		NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.	313						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	CTTCTGACTTGGTCTCATTTT	0.532000														118			16		0	0	0.003163	0	0
FCRL4	83417	broad.mit.edu	37	1	157559236	157559236	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr1:157559236T>C	uc001fqw.3	-	2	201	c.65A>G	c.(64-66)aAa>aGa	p.K22R	FCRL4_uc010phy.2_Non-coding_Transcript	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN	Homo sapiens Fc receptor-like 4 (FCRL4), mRNA.	22						integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				AATCACAGGTTTGTGTGCAGC	0.502000														44			8		0	0	0.004482	0	0
LEPREL1	55214	broad.mit.edu	37	3	189692443	189692443	+	Silent	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr3:189692443G>A	uc011bsk.2	-	8	1744	c.1356C>T	c.(1354-1356)ttC>ttT	p.F452F	LEPREL1_uc003fsg.3_Silent_p.F271F	NM_018192	NP_001127890	Q8IVL5	P3H2_HUMAN	Homo sapiens leprecan-like 1 (LEPREL1), transcript variant 1, mRNA.	452					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	Golgi apparatus|basement membrane|endoplasmic reticulum	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	AGTTGTAGACGAATGTGATGT	0.537000														51			5		0	0	0.001168	0	0
ANO5	203859	broad.mit.edu	37	11	22248960	22248960	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr11:22248960C>T	uc001mqi.2	+	6	793	c.476C>T	c.(475-477)cCc>cTc	p.P159L	ANO5_uc001mqj.2_Missense_Mutation_p.P158L	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA.	159						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGTGATATTCCCCGCCCTAAG	0.438000														93			18		0	0	0.004990	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	C	C	rs11554290		TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr1:115256529T>C	uc009wgu.3	-	2	436	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		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.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(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)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				117			23		0	0	0.001882	0	0
ARMCX2	9823	broad.mit.edu	37	X	100911641	100911641	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chrX:100911641G>A	uc010nnt.2	-	4	1743	c.934C>T	c.(934-936)Cgt>Tgt	p.R312C	ARMCX2_uc004eid.2_Missense_Mutation_p.R312C|ARMCX2_uc004eie.3_Missense_Mutation_p.R312C|ARMCX2_uc004eif.3_Missense_Mutation_p.R312C|ARMCX2_uc004eig.3_Missense_Mutation_p.R312C|ARMCX2_uc022caq.1_Missense_Mutation_p.R312C	NM_177949	NP_808818	Q7L311	ARMX2_HUMAN	Homo sapiens armadillo repeat containing, X-linked 2 (ARMCX2), mRNA.	312						integral to membrane	binding			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						TCTCCAGGACGGAAGCCCATC	0.597000														45			18		0	0	0.008871	0	0
C10orf120	399814	broad.mit.edu	37	10	124457747	124457747	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr10:124457747C>T	uc001lgn.3	-	2	542	c.510G>A	c.(508-510)agG>agA	p.R170R		NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN	Homo sapiens chromosome 10 open reading frame 120 (C10orf120), mRNA.	170										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				CAAGCCTCATCCTCTCTATGT	0.502000														103			22		0	0	0.002299	0	0
PABPC4	8761	broad.mit.edu	37	1	40030846	40030846	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr1:40030846G>A	uc001cdl.2	-	7	2075	c.1177C>T	c.(1177-1179)Cct>Tct	p.P393S	PABPC4_uc010oiv.1_Missense_Mutation_p.P393S|PABPC4_uc001cdm.2_Missense_Mutation_p.P393S	NM_001135653	NP_001129125	Q13310	PABP4_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 4 (inducible form) (PABPC4), transcript variant 1, mRNA.	393					RNA catabolic process|RNA processing|blood coagulation|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GCATTGGCAGGAAGTGCTCTC	0.542000														42			11		0	0	0.008291	0	0
CNGA1	1259	broad.mit.edu	37	4	47938625	47938625	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr4:47938625C>T	uc003gxu.3	-	9	2234	c.2093G>A	c.(2092-2094)cGa>cAa	p.R698Q	BC041434_uc003gxr.1_Intron|CNGA1_uc003gxt.4_Missense_Mutation_p.R629Q	NM_001142564	NP_000078	P29973	CNGA1_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 1 (CNGA1), transcript variant 1, mRNA.	629					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						CCCCTCCATTCGAGTAACCTT	0.433000														105			11		0	0	0.001368	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35130022	35130022	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr7:35130022C>T	uc003teq.1	-	20	2270	c.1163G>A	c.(1162-1164)cGa>cAa	p.R388Q	DPY19L2P1_uc003tep.1_Non-coding_Transcript|DPY19L2P1_uc010kwz.1_Non-coding_Transcript					Homo sapiens dpy-19-like 2 pseudogene 1 (C. elegans) (DPY19L2P1), non-coding RNA.																		GGCAGATTTTCGACTATATGT	0.274000														89			15		0	0	0.002450	0	0
DAB1	1600	broad.mit.edu	37	1	57602246	57602246	+	Silent	SNP	T	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr1:57602246T>A	uc009vzx.1	-	3	596	c.276A>T	c.(274-276)ggA>ggT	p.G92G	DAB1_uc001cyt.1_Silent_p.G92G|DAB1_uc001cyq.1_Silent_p.G92G|DAB1_uc001cyr.1_Silent_p.G92G|DAB1_uc009vzw.1_Silent_p.G92G|DAB1_uc001cys.1_Silent_p.G92G	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	92	PID.				cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TTTTGATTCCTCCAAAGGAGA	0.388000														46			4		0	0	0.000248	0	0
OR51L1	119682	broad.mit.edu	37	11	5020909	5020909	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr11:5020909C>T	uc010qyu.2	+	0	697	c.697C>T	c.(697-699)Cgt>Tgt	p.R233C		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily L, member 1 (OR51L1), mRNA.	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TATTGCATCTCGTGAAGAGCA	0.418000														53			10		0	0	0.008291	0	0
LRP2	4036	broad.mit.edu	37	2	169996061	169996061	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr2:169996061G>A	uc002ues.3	-	72	13472	c.13259C>T	c.(13258-13260)cCa>cTa	p.P4420L		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	4420					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ACTTGTTCCTGGAGAGATGCC	0.403000														116			25		0	0	0.006320	0	0
ADAM10	102	broad.mit.edu	37	15	58974406	58974407	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr15:58974406_58974407CC>TT	uc002afd.1	-	2	757_758	c.313_314GG>AA	c.(313-315)gga>AAa	p.G105K	ADAM10_uc010bgc.1_Non-coding_Transcript|ADAM10_uc010ugz.1_Intron|ADAM10_uc002afe.1_Intron	NM_001110	NP_001101	O14672	ADA10_HUMAN	Homo sapiens ADAM metallopeptidase domain 10 (ADAM10), mRNA.	105					Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|positive regulation of T cell chemotaxis|positive regulation of cell growth|positive regulation of cell proliferation|protein phosphorylation|response to tumor necrosis factor	Golgi-associated vesicle|cell surface|endomembrane system|integral to membrane|nucleus|plasma membrane	SH3 domain binding|integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|zinc ion binding			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		ATAAATATGTCCAGTGTAAATA	0.317000														51			14		0	0	0.004672	0	0
TMEM132A	54972	broad.mit.edu	37	11	60701033	60701033	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr11:60701033C>T	uc001nqi.3	+	7	1572	c.1379C>T	c.(1378-1380)gCc>gTc	p.A460V	TMEM132A_uc001nqj.3_Missense_Mutation_p.A459V|TMEM132A_uc001nqk.3_Missense_Mutation_p.A472V|TMEM132A_uc001nql.1_3'UTR	NM_017870	NP_060340	Q24JP5	T132A_HUMAN	Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA.	459						Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						GCCTGTGATGCCGTGTTCGTG	0.701000														19			5		0	0	0.001984	0	0
KCNK5	8645	broad.mit.edu	37	6	39158827	39158827	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr6:39158827C>T	uc003oon.3	-	4	1703	c.1339G>A	c.(1339-1341)Gag>Aag	p.E447K		NM_003740	NP_003731	O95279	KCNK5_HUMAN	Homo sapiens potassium channel, subfamily K, member 5 (KCNK5), mRNA.	447					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						TGGGGGCTCTCCTCCCCTGCC	0.627000														15			4		0	0	0.000248	0	0
KCNK10	54207	broad.mit.edu	37	14	88652026	88652026	+	Silent	SNP	C	T	T	rs113347660		TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr14:88652026C>T	uc001xwm.3	-	6	1607	c.1485G>A	c.(1483-1485)acG>acA	p.T495T	KCNK10_uc001xwn.3_Silent_p.T495T|KCNK10_uc001xwo.3_Silent_p.T490T	NM_138318	NP_612191	P57789	KCNKA_HUMAN	Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA.	490					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.C494R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						ACATCTTTTCCGTCTCCTCCT	0.502000														67			13		0	0	0.001368	0	0
NUAK1	9891	broad.mit.edu	37	12	106461577	106461577	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr12:106461577C>T	uc001tlj.1	-	6	2369	c.989G>A	c.(988-990)cGg>cAg	p.R330Q		NM_014840	NP_055655	O60285	NUAK1_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 1 (NUAK1), mRNA.	330							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						GTCAATGATCCGAGCCAGGAG	0.572000														43			5		0	0	0.000602	0	0
AGAP1	116987	broad.mit.edu	37	2	236792005	236792005	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr2:236792005G>A	uc002vvs.3	+	9	1665	c.1067G>A	c.(1066-1068)cGa>cAa	p.R356Q	AGAP1_uc002vvt.3_Missense_Mutation_p.R356Q	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 (AGAP1), transcript variant 1, mRNA.	356	PH.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding	p.R356Q(2)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CTGTTGAAGCGAAGTGGCAAA	0.388000														92			21		0	0	0.002299	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41000375	41000375	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr5:41000375C>T	uc003jmj.4	-	38	4919	c.4429G>A	c.(4429-4431)Gat>Aat	p.D1477N	HEATR7B2_uc003jmi.4_Missense_Mutation_p.D1032N	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1477							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						AGATCCTGATCAAGGAGACGG	0.502000														39			11		0	0	0.000978	0	0
SCN3A	6328	broad.mit.edu	37	2	165947682	165947682	+	Silent	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr2:165947682G>A	uc002ucx.3	-	27	5473	c.4981C>T	c.(4981-4983)Ctg>Ttg	p.L1661L	SCN3A_uc010zcy.2_Silent_p.L144L|SCN3A_uc002ucy.3_Silent_p.L1612L|SCN3A_uc002ucz.3_Silent_p.L1612L	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	1661						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	AGGAAGAGCAGGAGGCCGATG	0.463000														92			29		0	0	0.007291	0	0
SBSN	374897	broad.mit.edu	37	19	36017567	36017567	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr19:36017567C>T	uc002oad.2	-	0	1687	c.1617G>A	c.(1615-1617)aaG>aaA	p.K539K	SBSN_uc002oae.2_Silent_p.K196K|SBSN_uc021usp.1_Intron	NM_001166034	NP_001159506	Q6UWP8	SBSN_HUMAN	Homo sapiens suprabasin (SBSN), transcript variant 1, mRNA.	196						extracellular region				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GGTTGGCCTCCTTGCTGGCTT	0.597000														122			27		0	0	0.007291	0	0
TUBA3C	7278	broad.mit.edu	37	13	19748209	19748209	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr13:19748209C>T	uc009zzj.3	-	4	1252	c.1147G>A	c.(1147-1149)Gcc>Acc	p.A383T		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	383					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.A383T(2)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TCCGCGATGGCCGTGGTGTTG	0.637000														56			13		0	0	0.001368	0	0
PZP	5858	broad.mit.edu	37	12	9345243	9345243	+	Silent	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr12:9345243G>A	uc001qvl.3	-	11	1376	c.1347C>T	c.(1345-1347)tcC>tcT	p.S449S	PZP_uc009zgl.3_Silent_p.S318S	NM_002864	NP_002855			Homo sapiens pregnancy-zone protein (PZP), mRNA.											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TTCCACTTAAGGAGAAAACAC	0.498000														76			13		0	0	0.001855	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37430903	37430903	+	Missense_Mutation	SNP	G	A	A	rs77379875		TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr10:37430903G>A	uc021ppc.1	+	6	1009	c.910G>A	c.(910-912)Gaa>Aaa	p.E304K	ANKRD30A_uc001iza.1_Missense_Mutation_p.E304K	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	360						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						AACACCTAGGGAAATTACGAG	0.443000														52			7		0	0	0.001984	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1876649	1876649	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr8:1876649C>T	uc003wpr.3	+	23	2932	c.2754C>T	c.(2752-2754)tcC>tcT	p.S918S	ARHGEF10_uc003wps.3_Silent_p.S880S|ARHGEF10_uc010lre.3_Silent_p.S569S	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10 (ARHGEF10), mRNA.	943					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	Rho guanyl-nucleotide exchange factor activity|kinesin binding			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TTCAAAATTCCACTCCCAAAG	0.517000														143			18		0	0	0.006122	0	0
DQ580595	0	broad.mit.edu	37	10	79540840	79540840	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr10:79540840G>A	uc001jyz.3	+	1		c.1_splice	c.e1-1		DQ582762_uc021puq.1_5'Flank|DQ575045_uc021pur.1_5'Flank|DQ594771_uc001jza.3_5'Flank|DQ593302_uc001jzb.3_5'Flank|DQ594020_uc021pus.1_5'Flank|DQ570533_uc001jze.1_5'Flank|DQ593224_uc010qll.1_5'Flank|DQ584676_uc001jzf.1_5'Flank|DQ586086_uc001jzg.3_5'Flank|DQ576634_uc001jzh.3_5'Flank					Homo sapiens piRNA piR-48707, complete sequence.																		ACACCCGCCTGGGTGAGCAGG	0.562000														26			4		0	0	0.000248	0	0
TECTA	7007	broad.mit.edu	37	11	120989022	120989022	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr11:120989022C>T	uc010rzo.2	+	5	798	c.798C>T	c.(796-798)ttC>ttT	p.F266F		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	266	VWFC.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CAGGACAATTCCTTCGGCGAG	0.473000														44			6		0	0	0.001984	0	0
TBC1D9	23158	broad.mit.edu	37	4	141543775	141543775	+	Silent	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr4:141543775G>A	uc010ioj.3	-	20	3647	c.3375C>T	c.(3373-3375)tcC>tcT	p.S1125S		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	1125						intracellular	Rab GTPase activator activity|calcium ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				GTCCTCCAAGGGAGTGTTCCT	0.642000														78			15		0	0	0.003163	0	0
QARS	5859	broad.mit.edu	37	3	49140834	49140834	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr3:49140834G>A	uc003cvx.3	-	4	465	c.460C>T	c.(460-462)Cgg>Tgg	p.R154W	QARS_uc011bcd.2_Missense_Mutation_p.R9W|QARS_uc003cvy.3_Missense_Mutation_p.R9W|QARS_uc011bce.2_Missense_Mutation_p.R143W|QARS_uc011bcf.1_Missense_Mutation_p.R154W	NM_005051	NP_005042	P47897	SYQ_HUMAN	Homo sapiens glutaminyl-tRNA synthetase (QARS), mRNA.	154					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding	p.R154W(2)		breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	AGCACAGCCCGAGCCTCTCCT	0.522000														70			14		0	0	0.004007	0	0
OLFM3	118427	broad.mit.edu	37	1	102269864	102269864	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr1:102269864C>T	uc001duf.2	-	5	1438	c.1367G>A	c.(1366-1368)tGg>tAg	p.W456*	OLFM3_uc001dug.2_Nonsense_Mutation_p.W436*|OLFM3_uc001duh.2_Non-coding_Transcript|OLFM3_uc001dui.2_Non-coding_Transcript|OLFM3_uc001duj.2_Nonsense_Mutation_p.W361*|OLFM3_uc001due.2_Non-coding_Transcript	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN	Homo sapiens olfactomedin 3 (OLFM3), mRNA.	456	Olfactomedin-like.					extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		GCCATTGTTCCAGGCATAGAG	0.408000														58			9		0	0	0.006214	0	0
PDE6C	5146	broad.mit.edu	37	10	95380490	95380490	+	Silent	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr10:95380490C>T	uc001kiu.4	+	1	720	c.582C>T	c.(580-582)atC>atT	p.I194I		NM_006204	NP_006195	P51160	PDE6C_HUMAN	Homo sapiens phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C), mRNA.	194	GAF 1.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				TTGCTGTGATCATGGCAGTTA	0.453000														102			29		0	0	0.008361	0	0
ZNF676	163223	broad.mit.edu	37	19	22364254	22364254	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr19:22364254C>T	uc002nqs.1	-	2	583	c.265G>A	c.(265-267)Gat>Aat	p.D89N		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	89					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D89Y(2)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TTACACTCATCCACATTGGTA	0.328000														76			6		0	0	0.001984	0	0
NMNAT2	23057	broad.mit.edu	37	1	183255900	183255900	+	Silent	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr1:183255900G>A	uc001gqc.2	-	4	577	c.345C>T	c.(343-345)tcC>tcT	p.S115S	NMNAT2_uc001gqb.2_Silent_p.S110S|NMNAT2_uc001gqd.3_Silent_p.S10S	NM_015039	NP_055854	Q9BZQ4	NMNA2_HUMAN	Homo sapiens nicotinamide nucleotide adenylyltransferase 2 (NMNAT2), transcript variant 1, mRNA.	115					water-soluble vitamin metabolic process	Golgi membrane|nucleus	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity	p.S115S(2)|p.S115*(2)|p.S115Y(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18						TGTTGACATTGGAGAGGATGC	0.502000														73			10		0	0	0.000978	0	0
CD207	50489	broad.mit.edu	37	2	71058196	71058196	+	Silent	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr2:71058196G>A	uc002shg.3	-	5	1019	c.972C>T	c.(970-972)gtC>gtT	p.V324V		NM_015717	NP_056532	Q9UJ71	CLC4K_HUMAN	Homo sapiens CD207 molecule, langerin (CD207), mRNA.	324					defense response to virus	endocytic vesicle|integral to membrane	mannose binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						GTTCTGATGGGACATAGGGTC	0.478000														26			4		0	0	0.000248	0	0
PRSS23	11098	broad.mit.edu	37	11	86518990	86518990	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr11:86518990G>A	uc021qok.1	+	0	305	c.305G>A	c.(304-306)gGc>gAc	p.G102D	PRSS23_uc001pcc.1_Intron|PRSS23_uc010rts.1_Missense_Mutation_p.G70D|PRSS23_uc001pcb.3_Missense_Mutation_p.G102D	NM_007173	NP_009104	O95084	PRS23_HUMAN	Homo sapiens protease, serine, 23 (PRSS23), mRNA.	102					proteolysis	extracellular region|nucleus	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ACGCAGGTGGGCATCTACATC	0.527000														68			11		0	0	0.000978	0	0
RGS7BP	401190	broad.mit.edu	37	5	63871693	63871693	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr5:63871693C>T	uc003jtj.3	+	2	425	c.425C>T	c.(424-426)tCc>tTc	p.S142F	RGS7BP_uc011cqu.2_Missense_Mutation_p.S9F	NM_001029875	NP_001025046	Q6MZT1	R7BP_HUMAN	Homo sapiens regulator of G-protein signaling 7 binding protein (RGS7BP), mRNA.	142					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane		p.S142F(2)		breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		ATGCTAAAATCCATATGTCTG	0.428000														44			7		0	0	0.001984	0	0
TXK	7294	broad.mit.edu	37	4	48114430	48114430	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr4:48114430C>T	uc003gxx.4	-	3	360	c.274G>A	c.(274-276)Gat>Aat	p.D92N	TXK_uc003gxy.1_Missense_Mutation_p.D92N	NM_003328	NP_003319	P42681	TXK_HUMAN	Homo sapiens TXK tyrosine kinase (TXK), mRNA.	92	SH3.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						GGCAGAAAATCATAAAGTGCC	0.507000														150			25		0	0	0.002780	0	0
ASH1L	55870	broad.mit.edu	37	1	155307894	155307895	+	Frame_Shift_Ins	INS	-	T	T			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr1:155307894_155307895insT	uc009wqq.3	-	26	9283_9284	c.8803_8804insA	c.(8803-8805)atcfs	p.I2935fs	ASH1L_uc001fkt.3_Frame_Shift_Ins_p.I2930fs	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	2935					DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTTTCCAGGGATTTTTTCAAGG	0.416													---	55	---	---	24	---					
SYN2	6854	broad.mit.edu	37	3	12046124	12046126	+	In_Frame_Del	DEL	AGC	-	-	rs76272937		TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr3:12046124_12046126delAGC	uc003bwm.3	+	0	263_265	c.99_101delAGC	c.(97-102)caagcg>cag	p.A34del	SYN2_uc003bwl.1_In_Frame_Del_p.A34del	NM_133625	NP_598328	Q86VA8	Q86VA8_HUMAN	Homo sapiens synapsin II (SYN2), transcript variant IIa, mRNA.	34					neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGCCCCAGCAAGCGCCGAcgccg	0.764													---	4	---	---	2	---					
EPHX2	2053	broad.mit.edu	37	8	27382895	27382895	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr8:27382895delA	uc003xfu.3	+	11	1156	c.1075delA	c.(1075-1077)aatfs	p.N359fs	EPHX2_uc010lut.1_Frame_Shift_Del_p.N359fs|EPHX2_uc010luv.3_Frame_Shift_Del_p.N293fs|EPHX2_uc003xfv.3_Frame_Shift_Del_p.N306fs|EPHX2_uc010luw.3_Frame_Shift_Del_p.N293fs	NM_001979	NP_001970	P34913	HYES_HUMAN	Homo sapiens epoxide hydrolase 2, cytoplasmic (EPHX2), mRNA.	359	Epoxide hydrolase.				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	Golgi apparatus|cytosol|focal adhesion|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)	GGCCAGTTTGAATACTCCCTT	0.453													---	145	---	---	19	---					
RAPGEF1	2889	broad.mit.edu	37	9	134504526	134504527	+	Frame_Shift_Ins	INS	-	G	G			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr9:134504526_134504527insG	uc022bos.1	-	6	1017_1018	c.858_859insC	c.(856-861)cccaagfs	p.P286fs	RAPGEF1_uc022bot.1_Frame_Shift_Ins_p.P268fs|RAPGEF1_uc010mzm.3_5'Flank|RAPGEF1_uc022bou.1_Frame_Shift_Ins_p.P273fs|RAPGEF1_uc022bov.1_Frame_Shift_Ins_p.P273fs	NM_198679	NP_941372	Q13905	RPGF1_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 1 (RAPGEF1), transcript variant 2, mRNA.	268					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	SH3 domain binding|guanyl-nucleotide exchange factor activity			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		AGAGGAGGCTTGGGGGGCGCGA	0.540													---	117	---	---	10	---					
DIP2C	22982	broad.mit.edu	37	10	461748	461748	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr10:461748delG	uc001ifp.3	-	6	910	c.820delC	c.(820-822)cgafs	p.R274fs	DIP2C_uc009xhj.1_5'Flank	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA.	274						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		AAGAATTCTCGTAAAGGTGGT	0.438													---	146	---	---	12	---					
OR8D4	338662	broad.mit.edu	37	11	123777441	123777442	+	Frame_Shift_Ins	INS	-	T	T	rs79561639	byFrequency	TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr11:123777441_123777442insT	uc010saa.2	+	0	303_304	c.303_304insT	c.(301-306)ctgtttfs	p.L101fs		NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 4 (OR8D4), mRNA.	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TGATTCAGCTGTTTTTTTTCTG	0.436													---	211	---	---	7	---					
FOS	2353	broad.mit.edu	37	14	75747866	75747867	+	Frame_Shift_Ins	INS	-	TC	TC			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr14:75747866_75747867insTC	uc001xrn.3	+	3	1087_1088	c.882_883insTC	c.(880-885)ctatctfs	p.L294fs	FOS_uc010tva.2_Frame_Shift_Ins_p.L258fs|FOS_uc010asi.3_Frame_Shift_Ins_p.L180fs	NM_005252	NP_005243	P01100	FOS_HUMAN	Homo sapiens FBJ murine osteosarcoma viral oncogene homolog (FOS), mRNA.	294					DNA methylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|SMAD protein signal transduction|Toll signaling pathway|cellular response to reactive oxygen species|inflammatory response|innate immune response|regulation of sequence-specific DNA binding transcription factor activity|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|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway		R-SMAD binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)		BRCA - Breast invasive adenocarcinoma(234;0.0117)		ACATGGACCTATCTGGGTCCTT	0.624													---	78	---	---	11	---					
JAG2	3714	broad.mit.edu	37	14	105614481	105614481	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr14:105614481delG	uc001yqg.3	-	16	2624	c.2220delC	c.(2218-2220)cccfs	p.P740fs	JAG2_uc001yqf.3_Frame_Shift_Del_p.P144fs|JAG2_uc001yqh.3_Frame_Shift_Del_p.P702fs	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	Homo sapiens jagged 2 (JAG2), transcript variant 1, mRNA.	740	EGF-like 13.				Notch receptor processing|Notch signaling pathway|auditory receptor cell fate commitment|cell communication|cell cycle|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	Notch binding|calcium ion binding|growth factor activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CCTTCCAGCCGGGGGGGCAGG	0.711													---	4	---	---	2	---					
ACACA	31	broad.mit.edu	37	17	35620742	35620743	+	Frame_Shift_Ins	INS	-	A	A			TCGA-EE-A2A1-06A-11D-A197-08	TCGA-EE-A2A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0919997b-7dd1-482c-a31d-7bd11f1ab8e7	9ac2d3fe-8ba7-483d-acb7-a0a6675354e3	g.chr17:35620742_35620743insA	uc002hnm.3	-	10	1254_1255	c.1063_1064insT	c.(1063-1065)tctfs	p.S355fs	ACACA_uc002hnk.3_Frame_Shift_Ins_p.S277fs|ACACA_uc002hnl.3_Frame_Shift_Ins_p.S297fs|ACACA_uc002hnn.3_Frame_Shift_Ins_p.S355fs|ACACA_uc002hno.3_Frame_Shift_Ins_p.S392fs|ACACA_uc010cuz.3_Frame_Shift_Ins_p.S355fs	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	355	ATP-grasp.|Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CAGATGACGAGATTGTTTGGCT	0.396													---	104	---	---	19	---