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
CLDN14	23562	broad.mit.edu	37	21	37833796	37833796	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr21:37833796G>A	uc021wja.1	-	0	198	c.198C>T	c.(196-198)atC>atT	p.I66I	CLDN14_uc002yvn.1_Silent_p.I66I|CLDN14_uc002yvo.1_Silent_p.I66I|CLDN14_uc002yvk.1_Silent_p.I66I|CLDN14_uc002yvl.1_Silent_p.I66I|CLDN14_uc002yvm.1_Silent_p.I66I	NM_144492	NP_652763	O95500	CLD14_HUMAN	Homo sapiens claudin 14 (CLDN14), transcript variant 1, mRNA.	66					calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|lung(5)|skin(1)	7						GGGATCGGTAGATCTGGCACT	0.647000														28			18		0	0	0.006122	0	0
OBSCN	84033	broad.mit.edu	37	1	228520606	228520606	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:228520606C>T	uc009xez.1	+	56	15742	c.15698C>T	c.(15697-15699)tCa>tTa	p.S5233L	OBSCN_uc001hsn.3_Missense_Mutation_p.S5233L|OBSCN_uc001hsr.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	5233					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ACGGAGTCCTCATCCTACTTC	0.617000														14			6		0	0	0.001984	0	0
ATP7B	540	broad.mit.edu	37	13	52542667	52542667	+	Silent	SNP	G	A	A	rs145798966	by1000genomes	TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr13:52542667G>A	uc001vfw.2	-	3	1777	c.1620C>T	c.(1618-1620)ctC>ctT	p.L540L	ATP7B_uc001vfy.2_Silent_p.L429L|ATP7B_uc010adv.2_Intron|ATP7B_uc001vfx.2_Silent_p.L540L|ATP7B_uc010tgt.1_Silent_p.L540L|ATP7B_uc010tgu.1_Silent_p.L540L|ATP7B_uc010tgv.1_Silent_p.L540L|ATP7B_uc010tgw.1_Intron	NM_000053	NP_000044	P35670	ATP7B_HUMAN	Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA.	540	HMA 5.				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		GAGCTATCTCGAGGGGCTGGA	0.537000									Wilson disease					27			21		0	0	0.001882	0	0
ANK3	288	broad.mit.edu	37	10	62021631	62021631	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr10:62021631C>T	uc001jky.3	-	6	1122	c.784G>A	c.(784-786)Gat>Aat	p.D262N	ANK3_uc010qih.2_Missense_Mutation_p.D245N|ANK3_uc001jkz.4_Missense_Mutation_p.D256N|ANK3_uc001jlb.1_5'UTR	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	262					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						GCGGTGAAATCCACAGCAGCC	0.433000														2			18		0	0	0.002299	0	0
DDOST	1650	broad.mit.edu	37	1	20979121	20979121	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:20979121G>A	uc001bdo.1	-	9	1357	c.1214C>T	c.(1213-1215)tCc>tTc	p.S405F	DDOST_uc010odd.1_Missense_Mutation_p.S204F|DDOST_uc010ode.1_Missense_Mutation_p.S368F	NM_005216	NP_005207	P39656	OST48_HUMAN	Homo sapiens dolichyl-diphosphooligosaccharide--protein glycosyltransferase (DDOST), mRNA.	405					T cell activation|innate immune response|post-translational protein modification|response to cytokine stimulus	integral to membrane|microsome|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|skin(1)	13		all_lung(284;2.98e-05)|Lung NSC(340;3.25e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000141)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00046)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TACCTGAGTGGAAGAGTACAG	0.532000														71			37		0	0	0.002222	0	0
RAVER2	55225	broad.mit.edu	37	1	65247190	65247190	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:65247190C>T	uc001dbt.2	+	1	598	c.551C>T	c.(550-552)tCc>tTc	p.S184F	RAVER2_uc001dbs.2_Missense_Mutation_p.S305F|RAVER2_uc010opb.2_Missense_Mutation_p.S184F	NM_018211	NP_060681	Q9HCJ3	RAVR2_HUMAN	Homo sapiens ribonucleoprotein, PTB-binding 2 (RAVER2), mRNA.	305	RRM 2.					cytoplasm|nucleus	RNA binding|nucleotide binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						GTCCAGGTTTCCTTCTGTGCT	0.507000														30			33		0	0	0.003271	0	0
BARX2	8538	broad.mit.edu	37	11	129306826	129306826	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:129306826C>T	uc001qfc.4	+	1	418	c.368C>T	c.(367-369)aCg>aTg	p.T123M		NM_003658	NP_003649	Q9UMQ3	BARX2_HUMAN	Homo sapiens BARX homeobox 2 (BARX2), mRNA.	123										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		GAGTCAGAGACGGAACAGCCC	0.657000														2			8		0	0	0.004482	0	0
OR52N4	390072	broad.mit.edu	37	11	5776254	5776254	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:5776254G>A	uc001mbu.3	+	0	332	c.284G>A	c.(283-285)gGa>gAa	p.G95E	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001005175	NP_001005175	Q8NGI2	O52N4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 4 (OR52N4), mRNA.	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		AAGGACATTGGATTTGATGAA	0.473000														2			5		0	0	0.000602	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857935	9857935	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr16:9857935C>T	uc010uym.2	-	13	3776	c.3466G>A	c.(3466-3468)Gaa>Aaa	p.E1156K	GRIN2A_uc002czo.4_Missense_Mutation_p.E1156K|GRIN2A_uc010uyn.2_Missense_Mutation_p.E999K|GRIN2A_uc002czr.4_Missense_Mutation_p.E1156K	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1156					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CGGAAGTTTTCACTGGGATCC	0.527000														26			15		0	0	0.003163	0	0
MOV10	4343	broad.mit.edu	37	1	113240676	113240676	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:113240676C>T	uc001eck.3	+	14	2529	c.2259C>T	c.(2257-2259)gcC>gcT	p.A753A	MOV10_uc001ecl.2_Intron|MOV10_uc001ecn.3_Silent_p.A753A|MOV10_uc001ecm.3_Silent_p.A693A	NM_001130079	NP_066014	Q9HCE1	MOV10_HUMAN	Homo sapiens Mov10, Moloney leukemia virus 10, homolog (mouse) (MOV10), transcript variant 2, mRNA.	753					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|RNA binding|helicase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		AGCTGCAGGCCTGTGCTGATG	0.607000														72			48		0	0	0.003610	0	0
SPNS3	201305	broad.mit.edu	37	17	4348461	4348461	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr17:4348461C>T	uc002fxt.3	+	2	444	c.400C>T	c.(400-402)Cgg>Tgg	p.R134W	SPNS3_uc002fxu.3_Intron	NM_182538	NP_872344	Q6ZMD2	SPNS3_HUMAN	Homo sapiens spinster homolog 3 (Drosophila) (SPNS3), mRNA.	134					lipid transport|transmembrane transport	integral to membrane				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						CATCTCCCCCCGGGTACGTGT	0.622000														18			4		0	0	0.000602	0	0
CTNNA2	1496	broad.mit.edu	37	2	80772163	80772163	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:80772163G>A	uc010ysh.2	+	8	1352	c.1347G>A	c.(1345-1347)cgG>cgA	p.R449R	CTNNA2_uc010yse.2_Silent_p.R449R|CTNNA2_uc010ysf.2_Silent_p.R449R|CTNNA2_uc010ysg.2_Silent_p.R449R|CTNNA2_uc010ysi.2_Silent_p.R81R	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	449					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						AATTAGTTCGGATGGCAGCCA	0.483000														8			7		0	0	0.000673	0	0
TTN	7273	broad.mit.edu	37	2	179490104	179490104	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:179490104C>T	uc021vsy.1	-	189	36965	c.36740G>A	c.(36739-36741)gGa>gAa	p.G12247E	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G5942E|TTN_uc021vta.1_Missense_Mutation_p.G5875E|TTN_uc021vtb.1_Missense_Mutation_p.G5750E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13174	Ig-like 82.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G12247E(2)|p.G5875E(1)|p.G5750E(1)|p.G5942E(1)		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)			ATGAACTTTTCCTTCTGAACG	0.353000														12			7		0	0	0.001984	0	0
LOC649330	649330	broad.mit.edu	37	1	12908038	12908038	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:12908038C>T	uc010obf.2	-	1	331	c.105G>A	c.(103-105)gcG>gcA	p.A35A	LOC649330_uc009vno.2_Silent_p.A35A	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	35							nucleic acid binding|nucleotide binding	p.A35A(1)									TGGAAAAGATCGCCTCCACAT	0.473000														63			17		0	0	0.006122	0	0
OR2L13	284521	broad.mit.edu	37	1	248263493	248263493	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:248263493C>T	uc001ids.3	+	2	1153	c.816C>T	c.(814-816)atC>atT	p.I272I	OR2L13_uc021pmc.1_Silent_p.I272I	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 13 (OR2L13), mRNA.	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			AAGACAAGATCCTGGCAGTCT	0.473000														30			26		0	0	0.004656	0	0
KIAA0355	9710	broad.mit.edu	37	19	34838881	34838881	+	Missense_Mutation	SNP	G	A	A	rs146017138		TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:34838881G>A	uc002nvd.4	+	10	3480	c.2621G>A	c.(2620-2622)cGg>cAg	p.R874Q		NM_014686	NP_055501	O15063	K0355_HUMAN	Homo sapiens KIAA0355 (KIAA0355), mRNA.	874										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					GGCAACCCCCGGGGCAACTGG	0.642000														26			27		0	0	0.007291	0	0
GRIN2D	2906	broad.mit.edu	37	19	48922977	48922977	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:48922977C>T	uc002pjc.4	+	8	2085	c.1997C>T	c.(1996-1998)gCc>gTc	p.A666V	GRIN2D_uc010elx.3_5'UTR|Mir_324_uc021uwu.1_5'Flank	NM_000836	NP_000827	O15399	NMDE4_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2D (GRIN2D), mRNA.	666						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	GCCTTCTTCGCCGTCATCTTC	0.587000														62			49		0	0	0.003610	0	0
RPL6	6128	broad.mit.edu	37	12	112846077	112846077	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr12:112846077G>A	uc001ttu.3	-	2	532	c.303C>T	c.(301-303)aaC>aaT	p.N101N	RPL6_uc001ttv.3_Silent_p.N101N|RPL6_uc009zwd.1_3'UTR	NM_001024662	NP_001019833	Q02878	RL6_HUMAN	Homo sapiens ribosomal protein L6 (RPL6), transcript variant 1, mRNA.	101					endocrine pancreas development|regulation of transcription, DNA-dependent|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|RNA binding|structural constituent of ribosome	p.K100Q(1)		cervix(1)|large_intestine(6)|lung(3)	10						GGGTACCGCCGTTCTTGTCAC	0.398000														66			67		0	0	0.003610	0	0
GDA	9615	broad.mit.edu	37	9	74828907	74828907	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:74828907G>A	uc004air.3	+	5	787	c.578_splice	c.e5+1	p.R193_splice	GDA_uc011lse.2_Splice_Site_p.R119_splice|GDA_uc004aiq.3_Splice_Site_p.R193_splice|GDA_uc010mow.2_Splice_Site|GDA_uc011lsf.2_Splice_Site_p.R119_splice|GDA_uc004ais.3_Splice_Site_p.R151_splice|GDA_uc004ait.1_Splice_Site_p.R119_splice	NM_001242505	NP_001229434	Q9Y2T3	GUAD_HUMAN	Homo sapiens guanine deaminase (GDA), transcript variant 1, mRNA.	193					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		GAAACTGAGAGGTAAAAGGCC	0.433000														17			13		0	0	0.001368	0	0
PAPPA	5069	broad.mit.edu	37	9	119065225	119065225	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:119065225C>T	uc004bjn.3	+	9	3524	c.3143C>T	c.(3142-3144)tCc>tTc	p.S1048F	PAPPA_uc011lxp.1_Missense_Mutation_p.S743F|PAPPA_uc011lxq.2_Missense_Mutation_p.S423F	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	1048					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CCAGCAGCATCCCAGGTAAGA	0.532000														4			8		0	0	0.004482	0	0
OR51G2	81282	broad.mit.edu	37	11	4936743	4936743	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:4936743G>A	uc001lzr.1	-	0	151	c.151C>T	c.(151-153)Ctt>Ttt	p.L51F		NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 2 (OR51G2), mRNA.	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGATAAAAAGAATTGTGCAG	0.512000														3			4		0	0	0.000248	0	0
BRCA1	672	broad.mit.edu	37	17	41246344	41246344	+	Missense_Mutation	SNP	C	T	T	rs80357859		TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr17:41246344C>T	uc002icq.3	-	9	1436	c.1204G>A	c.(1204-1206)Gag>Aag	p.E402K	BRCA1_uc010whp.2_Intron|BRCA1_uc010whl.2_Intron|BRCA1_uc010whm.2_Intron|BRCA1_uc002icp.4_Missense_Mutation_p.E331K|BRCA1_uc002icu.3_Intron|BRCA1_uc010cyx.3_Missense_Mutation_p.E355K|BRCA1_uc002ict.3_Missense_Mutation_p.E402K|BRCA1_uc010whn.2_Intron|BRCA1_uc010who.2_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.3_Missense_Mutation_p.E402K|BRCA1_uc002ide.1_Missense_Mutation_p.E233K|BRCA1_uc010cyy.1_Missense_Mutation_p.E402K|BRCA1_uc010whs.1_Missense_Mutation_p.E402K|BRCA1_uc010cyz.2_Missense_Mutation_p.E355K|BRCA1_uc010cza.2_Missense_Mutation_p.E376K|BRCA1_uc010wht.1_Missense_Mutation_p.E106K	NM_007294	NP_009228	P38398	BRCA1_HUMAN	Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 1, mRNA.	402					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|G2/M transition DNA damage checkpoint|androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|double-strand break repair via homologous recombination|fatty acid biosynthetic process|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|positive regulation of cell cycle arrest|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of histone acetylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein K6-linked ubiquitination|protein autoubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	RNA binding|androgen receptor binding|identical protein binding|protein binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GATTCAGACTCCCCATCATGT	0.388000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)				34			27		0	0	0.005443	0	0
NBPF10	100132406	broad.mit.edu	37	1	144828688	144828688	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:144828688C>T	uc009wig.1	+	21	2921	c.2727C>T	c.(2725-2727)caC>caT	p.H909H	NBPF10_uc010oxo.1_Silent_p.H836H|NBPF10_uc010oxn.1_Silent_p.H809H|NBPF10_uc021oth.1_Silent_p.H571H|NBPF10_uc021otj.1_Silent_p.H938H|NBPF10_uc021oto.1_Silent_p.H726H|NBPF10_uc021otr.1_Silent_p.H238H|NBPF10_uc021ots.1_Intron|NBPF10_uc001ekk.1_Silent_p.H482H|NBPF10_uc010oyd.1_Silent_p.H238H|NBPF10_uc010oye.2_Intron|NBPF10_uc001eli.3_Non-coding_Transcript|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	911								p.H578H(1)		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)		AGGAACAGCACATCAGCTTCG	0.433000														36			19		0	0	0.001216	0	0
BPI	671	broad.mit.edu	37	20	36964043	36964043	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr20:36964043C>T	uc002xib.2	+	13	1454	c.1392C>T	c.(1390-1392)gtC>gtT	p.V464V		NM_001725	NP_001716	P17213	BPI_HUMAN	Homo sapiens bactericidal/permeability-increasing protein (BPI), mRNA.	464					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				CGGCCAGAGTCCAGCTCTACA	0.552000														35			43		0	0	0.003610	0	0
CCDC12	151903	broad.mit.edu	37	3	46965010	46965011	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr3:46965010_46965011GG>AA	uc011baq.2	-	3	440_441	c.431_432CC>TT	c.(430-432)tcc>tTT	p.S144F	CCDC12_uc003cqo.2_Intron	NM_144716	NP_653317	Q8WUD4	CCD12_HUMAN	Homo sapiens coiled-coil domain containing 12 (CCDC12), mRNA.	0										endometrium(1)|large_intestine(1)|urinary_tract(1)	3		Prostate(884;0.0143)|Ovarian(412;0.0448)|Acute lymphoblastic leukemia(5;0.143)		OV - Ovarian serous cystadenocarcinoma(275;2.2e-56)|BRCA - Breast invasive adenocarcinoma(193;0.00136)|KIRC - Kidney renal clear cell carcinoma(197;0.00703)|Kidney(197;0.00809)		gtgacgagaaggaatggggggc	0.584000											OREG0015545	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		2			3		0	0	0.004672	0	0
HSPG2	3339	broad.mit.edu	37	1	22214013	22214013	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:22214013C>T	uc009vqd.3	-	7	898	c.858G>A	c.(856-858)ggG>ggA	p.G286G	HSPG2_uc001bfj.3_Silent_p.G286G|HSPG2_uc009vqe.1_Missense_Mutation_p.G185D	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	286	LDL-receptor class A 2.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CCTCCTGGGGCCCACAGGGCA	0.662000														44			29		0	0	0.007291	0	0
CRTAC1	55118	broad.mit.edu	37	10	99696013	99696013	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr10:99696013C>T	uc001kou.2	-	2	691	c.335G>A	c.(334-336)gGg>gAg	p.G112E	CRTAC1_uc001kov.3_Missense_Mutation_p.G112E|CRTAC1_uc001kot.2_5'UTR	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN	Homo sapiens cartilage acidic protein 1 (CRTAC1), transcript variant 1, mRNA.	112						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		GATGGCGTTCCCCTGCCGGTC	0.637000														4			23		0	0	0.002780	0	0
RXFP2	122042	broad.mit.edu	37	13	32340124	32340124	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr13:32340124C>T	uc001utt.3	+	4	528	c.457C>T	c.(457-459)Cca>Tca	p.P153S	RXFP2_uc010aba.3_Missense_Mutation_p.P153S	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA.	153						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		ccacagtcttccAGATAAAGT	0.328000														4			6		0	0	0.001168	0	0
OR1Q1	158131	broad.mit.edu	37	9	125377205	125377205	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:125377205C>T	uc011lyy.2	+	0	189	c.189C>T	c.(187-189)ctC>ctT	p.L63L		NM_012364	NP_036496	Q15612	OR1Q1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily Q, member 1 (OR1Q1), mRNA.	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						ACATCTTCCTCAGTAACTTGG	0.473000														37			32		0	0	0.004289	0	0
POGZ	23126	broad.mit.edu	37	1	151381186	151381186	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:151381186A>C	uc001eyd.2	-	12	2360	c.2045T>G	c.(2044-2046)tTg>tGg	p.L682W	POGZ_uc021oyq.1_Missense_Mutation_p.L629W|POGZ_uc010pdb.2_Missense_Mutation_p.L673W|POGZ_uc010pdc.2_Missense_Mutation_p.L620W|POGZ_uc009wmv.2_Missense_Mutation_p.L587W|POGZ_uc001eyf.2_Missense_Mutation_p.L638W|POGZ_uc010pdd.2_Missense_Mutation_p.L173W	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	Homo sapiens pogo transposable element with ZNF domain (POGZ), transcript variant 1, mRNA.	682					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCCTGGTTTCAAGCCCTCCAG	0.453000														274			46		0	0	0.003610	0	0
PIGO	84720	broad.mit.edu	37	9	35094005	35094005	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:35094005C>G	uc003zwd.3	-	3	1068	c.672G>C	c.(670-672)tgG>tgC	p.W224C	PIGO_uc003zwe.3_Missense_Mutation_p.W224C|PIGO_uc003zwf.3_Missense_Mutation_p.W224C|PIGO_uc003zwc.1_Missense_Mutation_p.W224C|PIGO_uc003zwg.2_5'UTR	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class O (PIGO), transcript variant 1, mRNA.	224					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TCAGCACGTCCCATTCACCAC	0.557000														23			7		0	0	0.003080	0	0
DSCAM	1826	broad.mit.edu	37	21	41450784	41450784	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr21:41450784C>T	uc002yyq.1	-	25	4993	c.4541G>A	c.(4540-4542)aGg>aAg	p.R1514K	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.	1514	Fibronectin type-III 6.				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	p.R1514K(2)		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)				CCCAAAGGGCCTGTACTCTAG	0.562000														17			16		0	0	0.006122	0	0
AP4E1	23431	broad.mit.edu	37	15	51217358	51217358	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr15:51217358C>T	uc001zyx.2	+	4	591	c.484C>T	c.(484-486)Ccc>Tcc	p.P162S	AP4E1_uc021skz.1_Missense_Mutation_p.P87S|AP4E1_uc010ufi.2_Missense_Mutation_p.P162S|AP4E1_uc010ufj.2_Non-coding_Transcript|AP4E1_uc010ufk.2_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.	162					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)		CCAGATTTTCCCCTGCGAAAT	0.368000														13			18		0	0	0.004990	0	0
TMC7	79905	broad.mit.edu	37	16	19034496	19034496	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr16:19034496C>T	uc002dfp.2	+	4	820	c.690C>T	c.(688-690)atC>atT	p.I230I	TMC7_uc010vao.1_Silent_p.I230I|TMC7_uc002dfq.3_Silent_p.I230I|TMC7_uc010vap.2_Silent_p.I120I	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA.	230						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						ACAGTTATATCATAGACTTGC	0.318000														32			20		0	0	0.001523	0	0
SPACA1	81833	broad.mit.edu	37	6	88757777	88757777	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:88757777G>A	uc003pmn.3	+	0	271	c.154G>A	c.(154-156)Gaa>Aaa	p.E52K		NM_030960	NP_112222	Q9HBV2	SACA1_HUMAN	Homo sapiens sperm acrosome associated 1 (SPACA1), mRNA.	52						integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		GGAGGAGACCGAAAACAACGA	0.697000														10			10		0	0	0.001368	0	0
GRM8	2918	broad.mit.edu	37	7	126173718	126173718	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:126173718G>A	uc003vlr.2	-	7	2029	c.1718C>T	c.(1717-1719)cCc>cTc	p.P573L	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.P573L|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	573					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TTTGATGATGGGGATAAGCTG	0.517000										HNSCC(24;0.065)				16			12		0	0	0.000978	0	0
GADD45B	4616	broad.mit.edu	37	19	2477115	2477115	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:2477115C>T	uc002lwb.2	+	2	469	c.235C>T	c.(235-237)Cag>Tag	p.Q79*	GADD45B_uc002lwc.1_Nonsense_Mutation_p.Q64*	NM_015675	NP_056490	O75293	GA45B_HUMAN	Homo sapiens growth arrest and DNA-damage-inducible, beta (GADD45B), mRNA.	79					activation of MAPKKK activity|apoptosis|cell differentiation|multicellular organismal development|response to stress					cervix(2)|lung(1)|ovary(1)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACGCTCATCCAGTCCTTCTG	0.637000											OREG0025141	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		85			25		0	0	0.004656	0	0
PTPN22	26191	broad.mit.edu	37	1	114372628	114372628	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:114372628G>A	uc001eds.3	-	16	2207	c.2077C>T	c.(2077-2079)Ccc>Tcc	p.P693S	PTPN22_uc021orx.1_Missense_Mutation_p.P665S|PTPN22_uc009wgq.3_Missense_Mutation_p.P638S|PTPN22_uc021ory.1_Missense_Mutation_p.P669S|PTPN22_uc010owo.2_Missense_Mutation_p.P449S|PTPN22_uc001edt.3_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.P693S|PTPN22_uc009wgs.2_Missense_Mutation_p.P566S	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 22 (lymphoid) (PTPN22), transcript variant 1, mRNA.	693					T cell differentiation|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	SH3 domain binding|kinase binding|protein tyrosine phosphatase activity			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGAGGTGGGGGAGAAGAACGA	0.363000														41			48		0	0	0.003610	0	0
BMP5	653	broad.mit.edu	37	6	55625290	55625290	+	Missense_Mutation	SNP	C	T	T	rs147691986		TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:55625290C>T	uc003pcq.3	-	4	1781	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K	BMP5_uc011dxf.2_Missense_Mutation_p.E357K	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	357					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			ACATAGAGTTCGTGCTTCTTA	0.348000														51			15		0	0	0.004007	0	0
SCD	6319	broad.mit.edu	37	10	102108102	102108102	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr10:102108102G>A	uc001kqy.3	+	2	800	c.310_splice	c.e2+1	p.G104_splice		NM_005063	NP_005054	O00767	ACOD_HUMAN	Homo sapiens stearoyl-CoA desaturase (delta-9-desaturase) (SCD), mRNA.	104					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|large_intestine(3)|lung(5)	9		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		CCTGGCTTTGGGGTAAGCAGC	0.502000														8			84		0	0	0.003610	0	0
SIN3A	25942	broad.mit.edu	37	15	75687134	75687134	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr15:75687134C>T	uc002bai.3	-	13	2423	c.2164G>A	c.(2164-2166)Gag>Aag	p.E722K	SIN3A_uc002baj.3_Missense_Mutation_p.E722K|SIN3A_uc010uml.2_Missense_Mutation_p.E722K	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	Homo sapiens SIN3 transcription regulator homolog A (yeast) (SIN3A), transcript variant 2, mRNA.	722	Interaction with NCOR1 (By similarity).|Interactions with HDAC1 and ARID4B.				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex|nucleolus	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						TAGTATTTCTCATTTTGTTCT	0.438000														43			34		0	0	0.004289	0	0
F5	2153	broad.mit.edu	37	1	169512080	169512080	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:169512080C>A	uc001ggg.1	-	12	2393	c.2248G>T	c.(2248-2250)Gag>Tag	p.E750*		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	750	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	AGATTGAACTCTTCTTCTTCC	0.393000														25			17		6.49762e-13	1.18447e-12	0.006122	1	0
SYAP1	94056	broad.mit.edu	37	X	16761838	16761838	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chrX:16761838C>T	uc004cxp.3	+	4	591	c.450C>T	c.(448-450)ttC>ttT	p.F150F	SYAP1_uc011miv.2_Silent_p.F116F	NM_032796	NP_116185	Q96A49	SYAP1_HUMAN	Homo sapiens synapse associated protein 1 (SYAP1), transcript variant 1, mRNA.	150										endometrium(3)|lung(4)|pancreas(1)|prostate(1)|skin(1)	10	Hepatocellular(33;0.0997)					AGAGGAATTTCCTTCGTGACC	0.413000														13			59		0	0	0.003610	0	0
PIF1	80119	broad.mit.edu	37	15	65110472	65110472	+	Silent	SNP	G	A	A	rs144483518		TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr15:65110472G>A	uc002ant.2	-	9	1578	c.1512C>T	c.(1510-1512)ttC>ttT	p.F504F	PIF1_uc002anr.2_Silent_p.F52F|PIF1_uc002ans.2_Silent_p.F195F|PIF1_uc010uiq.1_Silent_p.F504F	NM_025049	NP_079325	Q9H611	PIF1_HUMAN	Homo sapiens PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae) (PIF1), mRNA.	504	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding			kidney(1)|lung(1)	2						CTTCTGCCTCGAACCCAACTA	0.582000														22			20		0	0	0.004656	0	0
SCN1A	6323	broad.mit.edu	37	2	166894589	166894589	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:166894589C>T	uc002udo.4	-	16	2870	c.2643G>A	c.(2641-2643)aaG>aaA	p.K881K	SCN1A_uc010fpk.3_Silent_p.K853K|SCN1A_uc021vsb.1_Silent_p.K870K	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	881						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.G880E(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TGCCGATGATCTTTATTAGCA	0.398000														29			28		0	0	0.007291	0	0
CASP8AP2	9994	broad.mit.edu	37	6	90576844	90576844	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:90576844C>T	uc003pnr.3	+	7	4031	c.3835C>T	c.(3835-3837)Cag>Tag	p.Q1279*	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.3_Nonsense_Mutation_p.Q1279*|CASP8AP2_uc011dzz.2_Nonsense_Mutation_p.Q1279*	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	Homo sapiens caspase 8 associated protein 2 (CASP8AP2), transcript variant 2, mRNA.	1279					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)		ACAGACATCCCAGCATGCAAC	0.458000														58			55		0	0	0.003610	0	0
OR2T8	343172	broad.mit.edu	37	1	248084496	248084496	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:248084496C>T	uc010pzc.2	+	0	177	c.177C>T	c.(175-177)ttC>ttT	p.F59F		NM_001005522	NP_001005522	A6NH00	OR2T8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 8 (OR2T8), mRNA.	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCATGTACTTCCTCCTGAGCC	0.537000														110			46		0	0	0.003610	0	0
SPZ1	84654	broad.mit.edu	37	5	79616905	79616905	+	RNA	SNP	A	G	G			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:79616905A>G	uc011ctk.1	-	0		c.754T>C			SPZ1_uc003kgn.3_Missense_Mutation_p.T291A			Q9BXG8	SPZ1_HUMAN	Homo sapiens cDNA FLJ25709 fis, clone TST04944.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		CGGTTTCCAAACCCAGCCAAA	0.413000														26			30		0	0	0.001786	0	0
TRBV9	28586	broad.mit.edu	37	7	142239570	142239570	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:142239570C>T	uc011ksd.2	-	1	321	c.310G>A	c.(310-312)Gac>Aac	p.D104N	TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron|TRBV9_uc022ann.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		AAAGCTGAGTCCCCCAGCTCC	0.512000														32			9		0	0	0.001368	0	0
C20orf132	140699	broad.mit.edu	37	20	35742546	35742546	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr20:35742546C>T	uc010zvu.2	-	20	2629	c.2538G>A	c.(2536-2538)gtG>gtA	p.V846V	C20orf132_uc002xgk.3_Silent_p.V478V	NM_152503	NP_689716	Q9H579	CT132_HUMAN	Homo sapiens chromosome 20 open reading frame 132 (C20orf132), transcript variant 1, mRNA.	0										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(115;0.00878)				CATCAGATCTCACCTGGGAAG	0.473000														6			8		0	0	0.003080	0	0
THEMIS	387357	broad.mit.edu	37	6	128134784	128134784	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:128134784G>A	uc011ebt.2	-	3	1151	c.1002C>T	c.(1000-1002)atC>atT	p.I334I	THEMIS_uc010kfa.3_Silent_p.I237I|THEMIS_uc021zfa.1_Silent_p.I334I|THEMIS_uc010kfb.3_Silent_p.I299I	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	334	CABIT 2.				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						AGCTAGTGGGGATCAAGAAGT	0.458000														15			16		0	0	0.001523	0	0
NFE2L1	4779	broad.mit.edu	37	17	46136446	46136446	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr17:46136446G>T	uc002imz.4	+	5	2413	c.1762G>T	c.(1762-1764)Gac>Tac	p.D588Y	NFE2L1_uc002ina.4_Missense_Mutation_p.D558Y|NFE2L1_uc002inb.4_Missense_Mutation_p.D558Y|NFE2L1_uc010wle.2_Missense_Mutation_p.D400Y|NFE2L1_uc010wlf.2_Missense_Mutation_p.D432Y	NM_003204	NP_003195	Q14494	NF2L1_HUMAN	Homo sapiens nuclear factor (erythroid-derived 2)-like 1 (NFE2L1), mRNA.	588					anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGACTCAGCCGACCTGCCACC	0.612000														28			26		8.24728e-16	1.51112e-15	0.004656	1	0
OR5F1	338674	broad.mit.edu	37	11	55761282	55761282	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:55761282C>T	uc010riv.2	-	0	820	c.820G>A	c.(820-822)Gct>Act	p.A274T		NM_003697	NP_003688	O95221	OR5F1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily F, member 1 (OR5F1), mRNA.	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					AACACAGAAGCCACTTTGTCC	0.458000														36			18		0	0	0.001216	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475536	140475536	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:140475536C>T	uc003lil.3	+	0	1300	c.1162C>T	c.(1162-1164)Caa>Taa	p.Q388*	PCDHB2_uc003lim.1_Nonsense_Mutation_p.Q49*	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	388	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGCTCCATCCAAGATGATCT	0.468000														25			31		0	0	0.001786	0	0
STK36	27148	broad.mit.edu	37	2	219553520	219553520	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:219553520C>T	uc002viu.3	+	11	1760	c.1481C>T	c.(1480-1482)tCc>tTc	p.S494F	STK36_uc002viv.3_Missense_Mutation_p.S494F	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN	Homo sapiens serine/threonine kinase 36 (STK36), transcript variant 1, mRNA.	494					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		GCCTTGTATTCCTTCTGCCGG	0.582000														38			19		0	0	0.006122	0	0
TRMT2B	79979	broad.mit.edu	37	X	100278593	100278593	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chrX:100278593A>G	uc004egt.3	-	7	1035	c.622T>C	c.(622-624)Ttc>Ctc	p.F208L	TRMT2B_uc004egu.3_Missense_Mutation_p.F89L|TRMT2B_uc004egr.3_Missense_Mutation_p.F208L|TRMT2B_uc004egv.3_Missense_Mutation_p.F163L|TRMT2B_uc004egq.3_Missense_Mutation_p.F208L|TRMT2B_uc004egs.3_Missense_Mutation_p.F208L	NM_001167970	NP_079193	Q96GJ1	TRM2_HUMAN	Homo sapiens TRM2 tRNA methyltransferase 2 homolog B (S. cerevisiae) (TRMT2B), transcript variant 2, mRNA.	208							tRNA (uracil-5-)-methyltransferase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						TGTCGAAGGAATACTTCATAG	0.448000														1			15		0	0	0.002450	0	0
SPEN	23013	broad.mit.edu	37	1	16262492	16262492	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:16262492C>A	uc001axk.1	+	10	9961	c.9757C>A	c.(9757-9759)Cct>Act	p.P3253T	SPEN_uc010obp.1_Missense_Mutation_p.P3212T	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	3253	Pro-rich.				Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		cgtccctgtccctgtccccct	0.672000														11			15		1.52009e-12	2.76398e-12	0.003163	1	0
TUBGCP5	114791	broad.mit.edu	37	15	22855265	22855265	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr15:22855265G>A	uc001yuq.2	+	12	1856	c.1726G>A	c.(1726-1728)Gag>Aag	p.E576K	TUBGCP5_uc001yur.4_Missense_Mutation_p.E576K|TUBGCP5_uc010axz.1_Missense_Mutation_p.E163K	NM_001102610	NP_001096080	Q96RT8	GCP5_HUMAN	Homo sapiens tubulin, gamma complex associated protein 5 (TUBGCP5), transcript variant 2, mRNA.	576					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		GCAGTGTGCGGAGAGCACCAC	0.562000														12			10		0	0	0.006214	0	0
LAD1	3898	broad.mit.edu	37	1	201355974	201355974	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:201355974C>T	uc001gwm.3	-	2	750	c.515G>A	c.(514-516)gGg>gAg	p.G172E	LAD1_uc009wzu.1_Missense_Mutation_p.G194E	NM_005558	NP_005549	O00515	LAD1_HUMAN	Homo sapiens ladinin 1 (LAD1), mRNA.	172						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						TTCTGGAACCCCTTTCTTCCT	0.582000														57			47		0	0	0.002852	0	0
CPAMD8	27151	broad.mit.edu	37	19	17007101	17007101	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:17007101C>T	uc002nfb.3	-	40	5485	c.5453G>A	c.(5452-5454)gGg>gAg	p.G1818E	CPAMD8_uc010xpj.1_5'UTR|CPAMD8_uc002nfd.1_Missense_Mutation_p.G283E	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	1771						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CAGGTCATCCCCGTAGGTGGA	0.692000														33			11		0	0	0.001368	0	0
TTN	7273	broad.mit.edu	37	2	179629403	179629403	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:179629403G>A	uc021vsy.1	-	41	10064	c.9839C>T	c.(9838-9840)tCc>tTc	p.S3280F	TTN_uc021vsz.1_Missense_Mutation_p.S3234F|TTN_uc021vta.1_Missense_Mutation_p.S3234F|TTN_uc021vtb.1_Missense_Mutation_p.S3234F|TTN_uc002umz.1_5'Flank|TTN_uc002unb.2_Missense_Mutation_p.S3280F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	3280	Ig-like 19.						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)			GAAGCCAGTGGAAAGCAGCTG	0.512000														22			15		0	0	0.004007	0	0
TMEM132B	114795	broad.mit.edu	37	12	126139164	126139164	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr12:126139164G>A	uc001uhe.1	+	8	3153	c.3145G>A	c.(3145-3147)Gat>Aat	p.D1049N	TMEM132B_uc001uhf.1_Missense_Mutation_p.D561N	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	1049						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GTTTGACAGCGATGATAACAT	0.498000														22			37		0	0	0.004289	0	0
PELP1	27043	broad.mit.edu	37	17	4575297	4575297	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr17:4575297G>A	uc002fyi.4	-	15	3215	c.2989C>T	c.(2989-2991)Cca>Tca	p.P997S	PELP1_uc010vsf.2_Intron	NM_014389	NP_055204	Q8IZL8	PELP1_HUMAN	Homo sapiens proline, glutamate and leucine rich protein 1 (PELP1), mRNA.	997	Glu-rich.|Pro-rich.				transcription, DNA-dependent	MLL1 complex|cytoplasm	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						TCGGGTTCTGGCTGCACCTTT	0.652000														0			8		0	0	0.006214	0	0
ZNF480	147657	broad.mit.edu	37	19	52825107	52825107	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:52825107C>T	uc010ydl.2	+	4	674	c.604C>T	c.(604-606)Cct>Tct	p.P202S	ZNF480_uc002pyv.3_Missense_Mutation_p.P125S|ZNF480_uc010ydm.2_Missense_Mutation_p.P159S|ZNF480_uc010epn.3_Missense_Mutation_p.P33S|AK097759_uc002pyw.1_Intron	NM_144684	NP_653285	Q8WV37	ZN480_HUMAN	Homo sapiens zinc finger protein 480 (ZNF480), mRNA.	202					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		TAGAGAAAAACCTTATGAATG	0.338000														24			14		0	0	0.003163	0	0
KIAA0100	9703	broad.mit.edu	37	17	26960076	26960076	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr17:26960076C>A	uc002hbu.3	-	19	3792	c.3689G>T	c.(3688-3690)cGg>cTg	p.R1230L		NM_014680	NP_055495	Q14667	K0100_HUMAN	Homo sapiens KIAA0100 (KIAA0100), mRNA.	1230						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CTCTGGGGCCCGCAGAGTGAC	0.587000														21			5		0.00116845	0.00210585	0.001168	1	0
CD3D	915	broad.mit.edu	37	11	118211283	118211283	+	Silent	SNP	C	T	T	rs144504840		TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:118211283C>T	uc001pss.1	-	1	218	c.81G>A	c.(79-81)gaG>gaA	p.E27E	CD3D_uc001pst.1_Silent_p.E27E|CD3D_uc021qrf.1_Intron	NM_000732	NP_000723	P04234	CD3D_HUMAN	Homo sapiens CD3d molecule, delta (CD3-TCR complex) (CD3D), transcript variant 1, mRNA.	27					T cell costimulation|T cell receptor signaling pathway|positive thymic T cell selection	cytoplasm|integral to membrane	protein heterodimerization activity			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	9	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		CCTCAAGTTCCTCTATAGGTA	0.473000														3			12		0	0	0.002450	0	0
NUP210	23225	broad.mit.edu	37	3	13370432	13370432	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr3:13370432G>A	uc003bxv.1	-	30	4208	c.4125C>T	c.(4123-4125)tcC>tcT	p.S1375S		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	1375					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CCCTCAGGTAGGAAACAGGGG	0.572000														29			20		0	0	0.002299	0	0
SFXN5	94097	broad.mit.edu	37	2	73226139	73226139	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:73226139G>A	uc002siq.3	-	8	604	c.473C>T	c.(472-474)tCa>tTa	p.S158L	SFXN5_uc002sip.3_Intron|SFXN5_uc002sio.3_Missense_Mutation_p.S50L|SFXN5_uc010yrc.2_Missense_Mutation_p.H15Y|SFXN5_uc010fet.3_Missense_Mutation_p.S158L	NM_144579	NP_653180	Q8TD22	SFXN5_HUMAN	Homo sapiens sideroflexin 5 (SFXN5), nuclear gene encoding mitochondrial protein, mRNA.	158					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						GGATGCAGGTGAAGGCTGGAA	0.572000														19			14		0	0	0.003163	0	0
C2orf40	84417	broad.mit.edu	37	2	106690485	106690485	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:106690485G>A	uc010fjf.3	+	2	379	c.271G>A	c.(271-273)Ggc>Agc	p.G91S		NM_032411	NP_115787	Q9H1Z8	AUGN_HUMAN	Homo sapiens chromosome 2 open reading frame 40 (C2orf40), mRNA.	91						extracellular region|transport vesicle				lung(7)|urinary_tract(1)	8						TCTCTACATGGGCTTTGACGA	0.617000														60			34		0	0	0.003755	0	0
AKR1B10	57016	broad.mit.edu	37	7	134216695	134216695	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:134216695G>A	uc003vrr.3	+	2	590	c.270G>A	c.(268-270)agG>agA	p.R90R		NM_020299	NP_064695	O60218	AK1BA_HUMAN	Homo sapiens aldo-keto reductase family 1, member B10 (aldose reductase) (AKR1B10), mRNA.	90					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						CCCTTGTGAGGAAAGCCTTTG	0.458000														32			20		0	0	0.002780	0	0
OR4M2	390538	broad.mit.edu	37	15	22369401	22369401	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr15:22369401T>C	uc010tzu.2	+	0	924	c.826T>C	c.(826-828)Ttc>Ctc	p.F276L	abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA.	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GGTGTCTGTGTTCAATACTTT	0.383000														22			19		0	0	0.007413	0	0
ZDHHC1	29800	broad.mit.edu	37	16	67440207	67440207	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr16:67440207G>A	uc010vjm.2	-	2	452	c.148C>T	c.(148-150)Ccg>Tcg	p.P50S		NM_013304	NP_037436	Q8WTX9	ZDHC1_HUMAN	Homo sapiens zinc finger, DHHC-type containing 1 (ZDHHC1), mRNA.	50						integral to membrane	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		ATCTGGAGCGGGTGAGGGGGC	0.652000														9			5		0	0	0.000602	0	0
FBN2	2201	broad.mit.edu	37	5	127800494	127800494	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:127800494G>A	uc003kuu.3	-	5	1188	c.749C>T	c.(748-750)cCc>cTc	p.P250L	FBN2_uc003kuv.2_Missense_Mutation_p.P217L|FBN2_uc003kuw.4_Missense_Mutation_p.P250L	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	250	TB 1.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.P250T(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CATCTCACAGGGATGGCCCCA	0.602000														38			14		0	0	0.003163	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872404	51872404	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr20:51872404C>T	uc002xwo.3	+	1	3294	c.2407C>T	c.(2407-2409)Ccc>Tcc	p.P803S	TSHZ2_uc021wex.1_Missense_Mutation_p.P800S	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	803					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)			CAAAGTCCTCCCCAAAGCCAC	0.562000														44			30		0	0	0.002836	0	0
ABCC8	6833	broad.mit.edu	37	11	17482058	17482058	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:17482058C>T	uc001mnc.3	-	5	1114	c.988G>A	c.(988-990)Gag>Aag	p.E330K	ABCC8_uc010rcy.1_Missense_Mutation_p.E329K	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	330	ABC transmembrane type-1 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	p.E330K(2)		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)	ACGTCGTTCTCCTTCCCAAGG	0.592000														129			109		0	0	0.003610	0	0
OR6B2	389090	broad.mit.edu	37	2	240969686	240969686	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:240969686G>A	uc010zoc.2	-	0	161	c.161C>T	c.(160-162)tCc>tTc	p.S54F	OR6B2_uc002vyr.3_Missense_Mutation_p.S54F	NM_001005853	NP_001005853	Q6IFH4	OR6B2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 2 (OR6B2), mRNA.	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T53I(1)		endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		CCTGTGGAGGGAGGTGCTGCT	0.567000														139			32		0	0	0.006230	0	0
ZNF254	9534	broad.mit.edu	37	19	24310604	24310604	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:24310604C>T	uc002nru.3	+	3	1936	c.1802C>T	c.(1801-1803)cCc>cTc	p.P601L	ZNF254_uc010xrk.2_Missense_Mutation_p.P516L	NM_203282	NP_975011	O75437	ZN254_HUMAN	Homo sapiens zinc finger protein 254 (ZNF254), mRNA.	601					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				GGAGTAAAACCCTACAAATGT	0.363000														6			5		0	0	0.000602	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43953530	43953530	+	Silent	SNP	C	T	T	rs139893812		TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:43953530C>T	uc010yny.2	+	16	2744	c.2661C>T	c.(2659-2661)atC>atT	p.I887I	PLEKHH2_uc002rtf.3_Silent_p.I886I	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA.	887	PH 2.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				ATTATACTATCGTTATCCATC	0.398000														115			105		0	0	0.003610	0	0
DYSF	8291	broad.mit.edu	37	2	71891488	71891488	+	Silent	SNP	C	T	T	rs149087116		TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:71891488C>T	uc010fen.3	+	45	5235	c.5094C>T	c.(5092-5094)atC>atT	p.I1698I	DYSF_uc010fei.3_Silent_p.I1676I|DYSF_uc010feh.3_Silent_p.I1666I|DYSF_uc002sig.4_Silent_p.I1645I|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.I1690I|DYSF_uc010fee.3_Silent_p.I1680I|DYSF_uc010fef.3_Silent_p.I1697I|DYSF_uc002sie.3_Silent_p.I1659I|DYSF_uc010feo.3_Silent_p.I1691I|DYSF_uc010fej.3_Silent_p.I1667I|DYSF_uc010fel.3_Silent_p.I1646I|DYSF_uc010fem.3_Silent_p.I1681I|DYSF_uc002sif.3_Silent_p.I1660I|DYSF_uc010fek.3_Silent_p.I1677I|DYSF_uc010yqy.2_Silent_p.I540I|DYSF_uc010yqz.2_Silent_p.I420I	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1659						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						ACGAAAAGATCGGTGAGACGG	0.567000														26			24		0	0	0.005443	0	0
PGC	5225	broad.mit.edu	37	6	41711064	41711064	+	Missense_Mutation	SNP	G	T	T	rs149712870	byFrequency	TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:41711064G>T	uc003ora.2	-	3	459	c.392C>A	c.(391-393)tCc>tAc	p.S131Y	PGC_uc021yzm.1_Missense_Mutation_p.S131Y	NM_002630	NP_002621	P20142	PEPC_HUMAN	Homo sapiens progastricsin (pepsinogen C) (PGC), transcript variant 1, mRNA.	131					digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			ATACTGCAGGGAGAAGGTCTG	0.622000														136			92		9.86815e-39	1.81742e-38	0.003610	1	0
RHOH	399	broad.mit.edu	37	4	40245414	40245414	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr4:40245414G>A	uc003guz.2	+	2	1132	c.408G>A	c.(406-408)ggG>ggA	p.G136G	RHOH_uc021xnp.1_Silent_p.G136G	NM_004310	NP_004301	Q15669	RHOH_HUMAN	Homo sapiens ras homolog gene family, member H (RHOH), mRNA.	136					T cell differentiation|negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	cytosol|mitochondrion|plasma membrane	GTP binding|GTPase inhibitor activity|Rho GTPase binding|kinase inhibitor activity			kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						CCATGGAAGGGAAGAAACTGG	0.622000														9			13		0	0	0.002450	0	0
HTR1E	3354	broad.mit.edu	37	6	87725481	87725481	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:87725481C>T	uc003pli.3	+	1	1132	c.429C>T	c.(427-429)atC>atT	p.I143I	HTR1E_uc021zcg.1_Silent_p.I143I	NM_000865	NP_000856	P28566	5HT1E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1E (HTR1E), mRNA.	143					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	p.I143I(2)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	CGCTGATGATCCTTACCGTCT	0.582000														27			23		0	0	0.002299	0	0
DUSP21	63904	broad.mit.edu	37	X	44703447	44703447	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chrX:44703447C>T	uc004dgd.3	+	0	199	c.69C>T	c.(67-69)tcC>tcT	p.S23S		NM_022076	NP_071359	Q9H596	DUS21_HUMAN	Homo sapiens dual specificity phosphatase 21 (DUSP21), mRNA.	23	Tyrosine-protein phosphatase.					cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3)	19						ACAGCTTCTCCCAAATAACCA	0.552000														12			52		0	0	0.003610	0	0
C5orf20	140947	broad.mit.edu	37	5	134782085	134782085	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:134782085C>T	uc003lav.3	-	0	954	c.714G>A	c.(712-714)agG>agA	p.R238R		NM_130848	NP_570900	Q8TF63	DCNP1_HUMAN	Homo sapiens chromosome 5 open reading frame 20 (C5orf20), mRNA.	238						nucleus				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGTGGGCTGCCCTGCGGTGGG	0.552000														81			17		0	0	0.001523	0	0
TRRAP	8295	broad.mit.edu	37	7	98565117	98565117	+	Silent	SNP	C	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:98565117C>A	uc003upp.3	+	49	7496	c.7287C>A	c.(7285-7287)acC>acA	p.T2429T	TRRAP_uc011kis.2_Silent_p.T2411T|TRRAP_uc003upr.3_Silent_p.T2128T	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	2429					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGGATGAGACCCTCTCTGGCA	0.532000														38			29		1.08312e-15	1.98203e-15	0.001786	1	0
FBN3	84467	broad.mit.edu	37	19	8146359	8146359	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:8146359C>T	uc002mjf.3	-	56	7236	c.7219G>A	c.(7219-7221)Gat>Aat	p.D2407N	FBN3_uc002mje.3_Missense_Mutation_p.D246N	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	2407	EGF-like 39; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CTGCACTCATCCATATCTGGG	0.597000														40			85		0	0	0.003610	0	0
OR6K2	81448	broad.mit.edu	37	1	158670295	158670295	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:158670295G>A	uc001fsu.1	-	0	148	c.148C>T	c.(148-150)Cag>Tag	p.Q50*		NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 2 (OR6K2), mRNA.	50					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)					GTATTCAACTGGACCACTGTG	0.433000														17			11		0	0	0.000673	0	0
DNMT3B	1789	broad.mit.edu	37	20	31374422	31374422	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr20:31374422C>T	uc002wyc.3	+	4	742	c.421C>T	c.(421-423)Ccg>Tcg	p.P141S	DNMT3B_uc010ztx.1_Intron|DNMT3B_uc010zty.1_Intron|DNMT3B_uc002wyd.3_Missense_Mutation_p.P141S|DNMT3B_uc002wye.3_Missense_Mutation_p.P141S|DNMT3B_uc010ztz.2_Intron|DNMT3B_uc010zua.2_Intron|DNMT3B_uc010gee.3_Non-coding_Transcript|DNMT3B_uc010gef.3_Non-coding_Transcript|DNMT3B_uc002wyf.3_Missense_Mutation_p.P153S	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 beta (DNMT3B), transcript variant 1, mRNA.	141	Interaction with DNMT1 and DNMT3A.				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CGTGGAGTTCCCGGCTACCAG	0.627000														25			28		0	0	0.001786	0	0
CELSR3	1951	broad.mit.edu	37	3	48669784	48669784	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr3:48669784G>A	uc003cuf.1	-	40	10694	c.10694C>T	c.(10693-10695)tCc>tTc	p.S3565F	CELSR3_uc003cug.3_Missense_Mutation_p.S139F|CELSR3_uc011bbp.2_Intron|CELSR3_uc010hke.3_Missense_Mutation_p.S11F|CELSR3_uc003cuk.3_Intron|CELSR3_uc003cuh.3_Missense_Mutation_p.S160F|CELSR3_uc003cui.3_Missense_Mutation_p.S160F|CELSR3_uc003cuj.3_Missense_Mutation_p.S160F	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	0					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CGGGGCCAGGGATTCTGTCAC	0.607000														14			20		0	0	0.001523	0	0
RIC3	79608	broad.mit.edu	37	11	8159847	8159847	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:8159847G>A	uc010rbm.1	-	2	453	c.399C>T	c.(397-399)gcC>gcT	p.A133A	RIC3_uc001mgb.2_5'UTR|RIC3_uc010rbl.1_Silent_p.A83A|RIC3_uc001mgd.2_Silent_p.A133A|RIC3_uc001mgc.2_Silent_p.A133A|RIC3_uc009yfm.2_Silent_p.A133A|RIC3_uc001mge.2_Intron|RIC3_uc009yfn.2_Intron	NM_024557	NP_001193600	Q7Z5B4	RIC3_HUMAN	Homo sapiens resistance to inhibitors of cholinesterase 3 homolog (C. elegans) (RIC3), transcript variant 1, mRNA.	133						Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		TTCCAGGCATGGCAGTATAGC	0.448000														78			61		0	0	0.003610	0	0
CAPRIN1	4076	broad.mit.edu	37	11	34118216	34118216	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:34118216C>T	uc001mvh.1	+	15	2085	c.1896C>T	c.(1894-1896)ttC>ttT	p.F632F	CAPRIN1_uc001mvg.3_Silent_p.F632F|CAPRIN1_uc001mvi.2_Silent_p.F632F|CAPRIN1_uc001mvj.1_Silent_p.F551F	NM_005898	NP_005889	Q14444	CAPR1_HUMAN	Homo sapiens cell cycle associated protein 1 (CAPRIN1), transcript variant 1, mRNA.	632					negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	RNA binding|protein binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				CCAATGGATTCAGAGGTAAAA	0.403000														24			15		0	0	0.003163	0	0
PNN	5411	broad.mit.edu	37	14	39650092	39650092	+	Silent	SNP	T	C	C			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr14:39650092T>C	uc001wuw.4	+	8	1276	c.1179T>C	c.(1177-1179)gtT>gtC	p.V393V		NM_002687	NP_002678	Q9H307	PININ_HUMAN	Homo sapiens pinin, desmosome associated protein (PNN), mRNA.	393	Glu-rich.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		TAGAGATGGTTGAGAATGTCA	0.418000														27			19		0	0	0.001523	0	0
EDEM2	55741	broad.mit.edu	37	20	33722742	33722742	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr20:33722742G>A	uc002xbo.2	-	5	601	c.501C>T	c.(499-501)acC>acT	p.T167T	EDEM2_uc010zuv.1_Silent_p.T126T|EDEM2_uc010zus.1_5'UTR|EDEM2_uc002xbq.2_Silent_p.T130T|EDEM2_uc010zut.1_Silent_p.T126T|EDEM2_uc002xbn.2_Silent_p.T15T|EDEM2_uc010zuu.1_Intron	NM_018217	NP_060687	Q9BV94	EDEM2_HUMAN	Homo sapiens ER degradation enhancer, mannosidase alpha-like 2 (EDEM2), transcript variant 1, mRNA.	167					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	p.Q166L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			TGCCAGTGGGGGTCTGAAAGG	0.532000														16			21		0	0	0.003954	0	0
TMEM131	23505	broad.mit.edu	37	2	98409003	98409003	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:98409003G>A	uc002syh.4	-	30	4219	c.3990C>T	c.(3988-3990)tcC>tcT	p.S1330S		NM_015348	NP_056163	Q92545	TM131_HUMAN	Homo sapiens transmembrane protein 131 (TMEM131), mRNA.	1330	Pro-rich.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GTTCTGGGTGGGAAGGGTGTG	0.647000														15			18		0	0	0.007413	0	0
PSD4	23550	broad.mit.edu	37	2	113942979	113942979	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:113942979C>T	uc002tjc.3	+	3	1394	c.1211C>T	c.(1210-1212)cCt>cTt	p.P404L	PSD4_uc002tjd.3_5'UTR|PSD4_uc002tje.3_Missense_Mutation_p.P403L|PSD4_uc002tjf.3_5'UTR	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	404					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGAGGAGGTCCTTTTTGGCCC	0.562000														62			54		0	0	0.003610	0	0
KREMEN1	83999	broad.mit.edu	37	22	29534801	29534801	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr22:29534801C>T	uc011akm.1	+	6	1207	c.1154C>T	c.(1153-1155)gCt>gTt	p.A385V	KREMEN1_uc003ael.3_Intron|KREMEN1_uc011akn.2_Missense_Mutation_p.A268V	NM_032045	NP_114434	Q96MU8	KREM1_HUMAN	Homo sapiens kringle containing transmembrane protein 1 (KREMEN1), transcript variant 2, mRNA.	383					Wnt receptor signaling pathway|cell communication|regulation of canonical Wnt receptor signaling pathway	integral to membrane|membrane fraction	protein binding			breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	20						CCCATGGGGGCTGGAAGCCAC	0.552000														4			18		0	0	0.006122	0	0
TP53	7157	broad.mit.edu	37	17	7578502	7578502	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr17:7578502A>C	uc002gim.2	-	4	622	c.428T>G	c.(427-429)gTg>gGg	p.V143G	TP53_uc002gig.1_Missense_Mutation_p.V143G|TP53_uc002gih.3_Missense_Mutation_p.V143G|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.V11G|TP53_uc010cnf.1_Missense_Mutation_p.V11G|TP53_uc002gii.1_Missense_Mutation_p.V11G|TP53_uc010cni.1_Missense_Mutation_p.V143G|TP53_uc010cnh.1_Missense_Mutation_p.V143G|TP53_uc002gij.2_Missense_Mutation_p.V143G|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.V50G|TP53_uc002gio.2_Missense_Mutation_p.V11G|TP53_uc010vug.2_Missense_Mutation_p.V104G	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	143	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation; strong DNA binding ability at 32.5 degrees Celsius; strong reduction of transcriptional activity at 37.5 degrees Celsius).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V143A(33)|p.V143M(17)|p.V143E(10)|p.P142L(8)|p.0?(8)|p.V143L(4)|p.P142H(3)|p.P142P(3)|p.L137_W146del10(2)|p.P142_Q144delPVQ(2)|p.V11A(2)|p.P142F(2)|p.P142A(2)|p.V50A(2)|p.A138_V143delAKTCPV(2)|p.P142T(2)|p.P142S(2)|p.V143V(2)|p.V143fs*27(2)|p.A138_P142delAKTCP(2)|p.V143G(2)|p.P142fs*28(2)|p.V143_S149del(2)|p.V143fs*29(1)|p.K139fs*4(1)|p.C141_P142insXX(1)|p.C141fs*5(1)|p.P142del(1)|p.P142fs*7(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCACAGCTGCACAGGGCAGGT	0.587000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				2			30		0	0	0.001512	0	0
ECT2L	345930	broad.mit.edu	37	6	139164127	139164127	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:139164127G>A	uc003qif.2	+	5	679	c.354G>A	c.(352-354)tgG>tgA	p.W118*	ECT2L_uc021zfx.1_Nonsense_Mutation_p.W118*|ECT2L_uc011edq.1_Nonsense_Mutation_p.W49*	NM_001077706	NP_001181966	Q008S8	ECT2L_HUMAN	Homo sapiens epithelial cell transforming sequence 2 oncogene-like (ECT2L), transcript variant 1, mRNA.	118	F-box.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						ATTGCTTATGGATGCCCAAAT	0.393000			"""N, Splice, Mis"""		ETP ALL									48			59		0	0	0.003610	0	0
DSPP	1834	broad.mit.edu	37	4	88533510	88533510	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr4:88533510G>A	uc003hqu.3	+	3	292	c.172G>A	c.(172-174)Ggt>Agt	p.G58S		NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN	Homo sapiens dentin sialophosphoprotein (DSPP), mRNA.	58					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		CAAAGAAAGTGGTGTCCTGGT	0.413000														2			17		0	0	0.007413	0	0
FAT2	2196	broad.mit.edu	37	5	150889703	150889703	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:150889703C>A	uc003lue.4	-	20	11951	c.11938G>T	c.(11938-11940)Ggg>Tgg	p.G3980W	FAT2_uc003lud.4_Missense_Mutation_p.G587W	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	3980	EGF-like 1.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGTGCTTCCCAGAGAACTGT	0.532000														44			42		5.75399e-11	1.04492e-10	0.003610	1	0
PARP14	54625	broad.mit.edu	37	3	122419491	122419491	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr3:122419491T>A	uc003efq.4	+	5	2149	c.2090T>A	c.(2089-2091)aTa>aAa	p.I697K	PARP14_uc021xdc.1_Missense_Mutation_p.I561K|PARP14_uc010hrk.3_Non-coding_Transcript|PARP14_uc003efr.3_Missense_Mutation_p.I414K|PARP14_uc003efs.1_Missense_Mutation_p.I414K	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 14 (PARP14), mRNA.	697					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		TGGCCAAAGATAAAGAAGGTA	0.363000														9			6		0	0	0.001984	0	0
ZNF17	7565	broad.mit.edu	37	19	57932560	57932560	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:57932560C>T	uc002qop.1	+	3	1972	c.1706C>T	c.(1705-1707)tCc>tTc	p.S569F	ZNF17_uc021vck.1_Missense_Mutation_p.S560F|ZNF17_uc002qoo.1_Missense_Mutation_p.S567F	NM_006959	NP_008890	P17021	ZNF17_HUMAN	Homo sapiens zinc finger protein 17 (ZNF17), mRNA.	567					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		AGCCAAAATTCCCACCTCATT	0.398000														30			16		0	0	0.004990	0	0
NID1	4811	broad.mit.edu	37	1	236205349	236205349	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:236205349G>A	uc001hxo.3	-	3	1098	c.996C>T	c.(994-996)ctC>ctT	p.L332L	NID1_uc009xgd.3_Silent_p.L332L	NM_002508	NP_002499	P14543	NID1_HUMAN	Homo sapiens nidogen 1 (NID1), mRNA.	332					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GGCGCGGGGAGAGGACGCTGG	0.622000														29			29		0	0	0.002096	0	0
FER1L6	654463	broad.mit.edu	37	8	124989743	124989743	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr8:124989743G>A	uc003yqw.3	+	9	1163	c.957G>A	c.(955-957)cgG>cgA	p.R319R		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	319	C2 2.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CCTTGTGTCGGAGGGTGAAAA	0.502000														9			4		0	0	0.000248	0	0
EGFLAM	133584	broad.mit.edu	37	5	38438424	38438424	+	Silent	SNP	C	G	G			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:38438424C>G	uc003jlc.2	+	16	2677	c.2331C>G	c.(2329-2331)tcC>tcG	p.S777S	EGFLAM_uc003jlb.2_Silent_p.S777S|EGFLAM_uc003jle.2_Silent_p.S543S|EGFLAM_uc003jlf.2_Silent_p.S143S	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	777	Laminin G-like 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					ACTTCACCTCCGGAGTGAATG	0.512000														26			11		0	0	0.002450	0	0
FAM189B	10712	broad.mit.edu	37	1	155217900	155217900	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:155217900G>A	uc001fjm.3	-	10	2380	c.1774C>T	c.(1774-1776)Ctc>Ttc	p.L592F	FAM189B_uc009wql.3_Missense_Mutation_p.L394F|FAM189B_uc001fjn.3_Missense_Mutation_p.L496F|FAM189B_uc001fjo.3_Missense_Mutation_p.L574F|FAM189B_uc001fjp.3_Non-coding_Transcript	NM_006589	NP_006580	P81408	F189B_HUMAN	Homo sapiens family with sequence similarity 189, member B (FAM189B), transcript variant 1, mRNA.	592						integral to membrane	WW domain binding	p.F591C(1)		breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						GATATCTGGAGGAAACGAGTG	0.602000														20			21		0	0	0.001882	0	0
KTN1	3895	broad.mit.edu	37	14	56078982	56078982	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr14:56078982C>T	uc001xcb.3	+	2	518	c.216C>T	c.(214-216)ctC>ctT	p.L72L	KTN1_uc001xcc.3_Silent_p.L72L|KTN1_uc001xcd.3_Silent_p.L72L|KTN1_uc001xce.3_Silent_p.L72L|KTN1_uc010trb.2_Silent_p.L72L|KTN1_uc001xcf.1_Silent_p.L72L	NM_182926	NP_891556	Q86UP2	KTN1_HUMAN	Homo sapiens kinectin 1 (kinesin receptor) (KTN1), transcript variant 1, mRNA.	72					microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						ATGGAAACCTCCATGAATCCG	0.358000			T	RET	papillary thryoid									13			9		0	0	0.006214	0	0
FSCN1	6624	broad.mit.edu	37	7	5642960	5642960	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:5642960C>T	uc003sou.3	+	1	1037	c.905C>T	c.(904-906)aCc>aTc	p.T302I	FSCN1_uc003sov.3_Missense_Mutation_p.T24I	NM_003088	NP_003079	Q16658	FSCN1_HUMAN	Homo sapiens fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus) (FSCN1), mRNA.	302					actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		GACCGCGACACCAAAAAGTGT	0.632000														40			26		0	0	0.006320	0	0
OR10G3	26533	broad.mit.edu	37	14	22038596	22038596	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr14:22038596G>A	uc010tmb.2	-	0	280	c.280C>T	c.(280-282)Cca>Tca	p.P94S		NM_001005465	NP_001005465	Q8NGC4	O10G3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 3 (OR10G3), mRNA.	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		CCACCAAATGGGATGGGTTTG	0.473000														29			16		0	0	0.006122	0	0
FMO1	2326	broad.mit.edu	37	1	171247897	171247897	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:171247897C>T	uc009wvz.3	+	4	650	c.514C>T	c.(514-516)Cat>Tat	p.H172Y	FMO1_uc010pme.2_Missense_Mutation_p.H109Y|FMO1_uc001ghl.3_Missense_Mutation_p.H172Y|FMO1_uc001ghm.3_Missense_Mutation_p.H172Y	NM_002021	NP_002012	Q01740	FMO1_HUMAN	Homo sapiens flavin containing monooxygenase 1 (FMO1), mRNA.	172					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CCAGTACTTTCATAGCCGGCA	0.383000														22			15		0	0	0.006122	0	0
NLRP13	126204	broad.mit.edu	37	19	56410231	56410231	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:56410231C>T	uc010ygg.2	-	9	2887	c.2862G>A	c.(2860-2862)gtG>gtA	p.V954V		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	954							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CCAAGATTTTCACATTATGAT	0.443000														30			21		0	0	0.002780	0	0
LRRC37A2	474170	broad.mit.edu	37	17	45127419	45127419	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr17:45127419C>T	uc010wkj.1	+	1	971	c.617C>T	c.(616-618)cCt>cTt	p.P206L	ARL17_uc021tzb.1_Intron|DQ597730_uc010wkl.2_Non-coding_Transcript			A6NM11	L37A2_HUMAN	Homo sapiens cDNA FLJ42521 fis, clone BRACE3000973.	1342						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		GCAAACAGGCCTCCGTTCTCT	0.468000														58			8		0	0	0.001368	0	0
CACNA1S	779	broad.mit.edu	37	1	201038277	201038277	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:201038277C>T	uc001gvv.3	-	18	2765	c.2538G>A	c.(2536-2538)gaG>gaA	p.E846E		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	846					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TGAGGACAATCTCCACAGTGA	0.582000														27			13		0	0	0.003163	0	0
COL4A1	1282	broad.mit.edu	37	13	110859775	110859775	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr13:110859775C>T	uc001vqw.4	-	12	877	c.755G>A	c.(754-756)gGa>gAa	p.G252E		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	252	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GGCGAAGTCTCCTTTTTCTTG	0.408000														115			64		0	0	0.003610	0	0
CCR8	1237	broad.mit.edu	37	3	39373976	39373976	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr3:39373976G>A	uc010hhr.2	+	1	292	c.154G>A	c.(154-156)Gga>Aga	p.G52R	CCR8_uc003cjm.2_Intron|CCR8_uc021wwe.1_Missense_Mutation_p.G52R	NM_005201	NP_005192	P51685	CCR8_HUMAN	Homo sapiens chemokine (C-C motif) receptor 8 (CCR8), mRNA.	52					cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		CAGTCTTCTGGGAAACAGCCT	0.473000														24			8		0	0	0.004482	0	0
NEU4	129807	broad.mit.edu	37	2	242755727	242755727	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:242755727G>A	uc002wcp.2	+	1	579	c.85G>A	c.(85-87)Gag>Aag	p.E29K	NEU4_uc010fzr.3_Missense_Mutation_p.E16K|NEU4_uc002wcm.3_Missense_Mutation_p.E16K|NEU4_uc002wco.2_Missense_Mutation_p.E16K|NEU4_uc002wcn.2_Missense_Mutation_p.E28K	NM_001167599	NP_001161074	Q8WWR8	NEUR4_HUMAN	Homo sapiens sialidase 4 (NEU4), transcript variant 2, mRNA.	16						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		CTTCGAGCGGGAGAGGACGGG	0.692000														18			20		0	0	0.002780	0	0
TAF1L	138474	broad.mit.edu	37	9	32631374	32631374	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:32631374C>T	uc003zrg.1	-	0	4294	c.4204G>A	c.(4204-4206)Gtg>Atg	p.V1402M	AX747113_uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	1402					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GACAGCGTCACCATAGGGTCT	0.463000														96			59		0	0	0.003610	0	0
COBL	23242	broad.mit.edu	37	7	51111251	51111251	+	Missense_Mutation	SNP	G	A	A	rs138046636		TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:51111251G>A	uc003tps.3	-	8	1591	c.1406C>T	c.(1405-1407)tCc>tTc	p.S469F	COBL_uc003tpr.4_Missense_Mutation_p.S412F|COBL_uc011kcl.2_Missense_Mutation_p.S412F|COBL_uc010kzc.3_Missense_Mutation_p.S412F|COBL_uc003tpp.4_Missense_Mutation_p.S198F|COBL_uc003tpq.4_Missense_Mutation_p.S353F	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	412								p.S412F(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GTCTGAGGGGGAACTCATCAC	0.587000														52			30		0	0	0.004878	0	0
KLHL13	90293	broad.mit.edu	37	X	117053615	117053615	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chrX:117053615T>A	uc011mtp.2	-	4	581	c.448A>T	c.(448-450)Aaa>Taa	p.K150*	KLHL13_uc004eqk.3_Nonsense_Mutation_p.K96*|KLHL13_uc004eql.3_Nonsense_Mutation_p.K147*|KLHL13_uc011mtn.2_Intron|KLHL13_uc011mto.2_Nonsense_Mutation_p.K141*|KLHL13_uc011mtq.2_Nonsense_Mutation_p.K131*|KLHL13_uc004eqm.3_Nonsense_Mutation_p.K105*|KLHL13_uc022cde.1_Nonsense_Mutation_p.K131*	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	147	BTB.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		p.I149T(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TCAATAATTTTCCTTAGACCG	0.353000														8			54		0	0	0.003610	0	0
CREB5	9586	broad.mit.edu	37	7	28547242	28547242	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:28547242C>T	uc003szq.3	+	3	568	c.178C>T	c.(178-180)Ccg>Tcg	p.P60S	CREB5_uc003szo.3_Missense_Mutation_p.P27S|CREB5_uc003szr.3_Missense_Mutation_p.P53S	NM_182898	NP_878902	Q02930	CREB5_HUMAN	Homo sapiens cAMP responsive element binding protein 5 (CREB5), transcript variant 1, mRNA.	60					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P60P(1)|p.P60Q(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						AGATCAAACTCCGACCCCAAC	0.522000														119			101		0	0	0.003610	0	0
ZNF665	79788	broad.mit.edu	37	19	53678737	53678737	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:53678737C>T	uc010eqm.1	-	2	203	c.103G>A	c.(103-105)Gac>Aac	p.D35N		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	Homo sapiens zinc finger protein 665 (ZNF665), mRNA.	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		AACATGACGTCCCTGTACAAA	0.448000														58			53		0	0	0.003610	0	0
MYO7A	4647	broad.mit.edu	37	11	76886426	76886426	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:76886426C>T	uc001oyb.2	+	17	2375	c.2103C>T	c.(2101-2103)ctC>ctT	p.L701L	MYO7A_uc010rsl.2_Silent_p.L701L|MYO7A_uc010rsm.1_Silent_p.L690L|MYO7A_uc001oyc.2_Silent_p.L701L|MYO7A_uc001oyd.3_Silent_p.L41L	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	701	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AGGGCGACCTCCGCGGGACTT	0.612000														137			43		0	0	0.003610	0	0
PKP2	5318	broad.mit.edu	37	12	32994096	32994096	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr12:32994096G>A	uc001rlj.4	-	6	1669	c.1554C>T	c.(1552-1554)ctC>ctT	p.L518L	PKP2_uc001rlk.4_Silent_p.L474L|PKP2_uc010skj.2_Silent_p.L474L	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	518					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CTGTTATCATGAGATTCTTGA	0.438000														63			63		0	0	0.003610	0	0
DNAH7	56171	broad.mit.edu	37	2	196681570	196681570	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:196681570C>T	uc002utj.4	-	50	9644	c.9543G>A	c.(9541-9543)gaG>gaA	p.E3181E		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3181	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.N3180N(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCTGAGAAATCTCATTAGCCA	0.398000														42			34		0	0	0.003271	0	0
C1orf210	149466	broad.mit.edu	37	1	43748580	43748580	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:43748580C>T	uc001cit.4	-	2	452	c.218G>A	c.(217-219)gGa>gAa	p.G73E	C1orf210_uc021omn.1_Missense_Mutation_p.G73E	NM_182517	NP_872323	Q8IVY1	CA210_HUMAN	Homo sapiens chromosome 1 open reading frame 210 (C1orf210), transcript variant 1, mRNA.	73						integral to membrane				breast(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCCTCCCCTTCCTGTCTCAGG	0.612000														55			26		0	0	0.006320	0	0
C1orf94	84970	broad.mit.edu	37	1	34663234	34663234	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:34663234C>T	uc001bxt.3	+	1	1567	c.729C>T	c.(727-729)ttC>ttT	p.F243F	C1orf94_uc001bxs.4_Silent_p.F53F	NM_001134734	NP_116273	Q6P1W5	CA094_HUMAN	Homo sapiens chromosome 1 open reading frame 94 (C1orf94), transcript variant 1, mRNA.	53							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				TGTCCCAGTTCCCACTGAAGT	0.547000														16			7		0	0	0.003080	0	0
RRM1	6240	broad.mit.edu	37	11	4156462	4156462	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:4156462G>A	uc001lyw.4	+	17	2471	c.2152G>A	c.(2152-2154)Ggc>Agc	p.G718S	RRM1_uc009yej.2_Non-coding_Transcript|RRM1_uc009yei.3_Missense_Mutation_p.G678S|RRM1_uc010qyc.2_Missense_Mutation_p.G621S|RRM1_uc010qyd.2_Missense_Mutation_p.G380S	NM_001033	NP_001024	P23921	RIR1_HUMAN	Homo sapiens ribonucleotide reductase M1 (RRM1), mRNA.	718					DNA replication|deoxyribonucleotide biosynthetic process|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	GCCTAACTATGGCAAACTCAC	0.423000														36			32		0	0	0.003755	0	0
C2CD4A	145741	broad.mit.edu	37	15	62359860	62359860	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr15:62359860G>A	uc002ahf.4	+	1	189	c.48G>A	c.(46-48)cgG>cgA	p.R16R	C2CD4A_uc021snl.1_Silent_p.R16R	NM_207322	NP_997205	Q8NCU7	C2C4A_HUMAN	Homo sapiens C2 calcium-dependent domain containing 4A (C2CD4A), mRNA.	16						nucleus											GCCTTCGGCGGAGCGGAGACT	0.647000														10			10		0	0	0.006214	0	0
OR1S1	219959	broad.mit.edu	37	11	57982533	57982533	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:57982533C>T	uc010rkc.2	+	0	317	c.317C>T	c.(316-318)tCt>tTt	p.S106F		NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily S, member 1 (OR1S1), mRNA.	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				CAATCCATCTCTTATGAGAGC	0.423000														33			19		0	0	0.001523	0	0
AGAP2	116986	broad.mit.edu	37	12	58126232	58126232	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr12:58126232G>A	uc001spq.3	-	6	1748	c.1748C>T	c.(1747-1749)cCc>cTc	p.P583L	AGAP2_uc001spp.3_Missense_Mutation_p.P583L|AGAP2_uc001spr.3_Missense_Mutation_p.P247L	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 (AGAP2), transcript variant 1, mRNA.	583					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						TGGGGAGCTGGGCAGGGACTT	0.627000														5			3		0	0	0.000248	0	0
F11	2160	broad.mit.edu	37	4	187201261	187201261	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr4:187201261G>A	uc003iza.1	+	7	1184	c.851G>A	c.(850-852)aGg>aAg	p.R284K		NM_000128	NP_000119	P03951	FA11_HUMAN	Homo sapiens coagulation factor XI (F11), mRNA.	284					blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	CAAAGCTGCAGGCACAGCATC	0.483000														1			23		0	0	0.001882	0	0
RABL2A	11159	broad.mit.edu	37	2	114398488	114398488	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:114398488G>A	uc002tks.4	+	6	456	c.315G>A	c.(313-315)agG>agA	p.R105R	RABL2A_uc002tkn.4_Silent_p.R105R|RABL2A_uc010flb.3_Silent_p.R105R|RABL2A_uc002tkm.4_Intron|RABL2A_uc002tkr.3_Silent_p.R105R|RABL2A_uc002tkp.4_Silent_p.R105R	NM_013412	NP_038198	Q9UBK7	RBL2A_HUMAN	Homo sapiens RAB, member of RAS oncogene family-like 2A (RABL2A), transcript variant 1, mRNA.	105					small GTPase mediated signal transduction		GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(3)	9						ATATACAGAGGAAAGTCACCT	0.498000														36			32		0	0	0.004878	0	0
FRAS1	80144	broad.mit.edu	37	4	79254487	79254487	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr4:79254487G>A	uc003hlb.2	+	18	2639	c.2199G>A	c.(2197-2199)ggG>ggA	p.G733G	FRAS1_uc003hkw.3_Silent_p.G733G|FRAS1_uc003hkz.3_Silent_p.G437G	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	733					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						CAGACTGTGGGCCTTCCCATG	0.522000														0			4		0	0	0.000248	0	0
PSG4	5672	broad.mit.edu	37	19	43699390	43699390	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:43699390A>C	uc002ovy.3	-	3	847	c.745T>G	c.(745-747)Tta>Gta	p.L249V	PSG4_uc010xwk.1_Intron|PSG4_uc002ovz.3_Intron|PSG4_uc002owb.3_Missense_Mutation_p.L156V	NM_002780	NP_002771	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA.	249	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region		p.T249T(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				CTGGGGTTTAAGTTGTTGATT	0.453000														85			70		0	0	0.003610	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37482123	37482123	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr10:37482123A>G	uc021ppc.1	+	26	2482	c.2383A>G	c.(2383-2385)Aga>Gga	p.R795G	ANKRD30A_uc001iza.1_Missense_Mutation_p.R795G	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	851						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						GGCTCCCTGCAGAATGAAAGT	0.269000														5			3		0	0	0.001984	0	0
SMAD2	4087	broad.mit.edu	37	18	45395657	45395657	+	Silent	SNP	T	C	C			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr18:45395657T>C	uc002lcy.3	-	3	725	c.477A>G	c.(475-477)gaA>gaG	p.E159E	SMAD2_uc002lcz.3_Silent_p.E159E|SMAD2_uc010xdc.2_Silent_p.E129E|SMAD2_uc010xdd.1_Silent_p.E129E	NM_005901	NP_005892	Q15796	SMAD2_HUMAN	Homo sapiens SMAD family member 2 (SMAD2), transcript variant 1, mRNA.	159	MH1.				SMAD protein complex assembly|anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	I-SMAD binding|R-SMAD binding|activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						TTACACATACTTCATCCTTTT	0.363000														11			9		0	0	0.006214	0	0
SLC26A8	116369	broad.mit.edu	37	6	35967836	35967836	+	Silent	SNP	G	A	A	rs142275991		TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:35967836G>A	uc003olm.3	-	3	489	c.378C>T	c.(376-378)atC>atT	p.I126I	SLC26A8_uc003oll.3_Silent_p.I126I|SLC26A8_uc003oln.3_Silent_p.I126I	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN	Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.	126					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						CTGCATAAGCGATGTTGAGAG	0.403000														232			145		0	0	0.003610	0	0
TEX15	56154	broad.mit.edu	37	8	30699564	30699564	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr8:30699564C>T	uc003xil.3	-	0	6970	c.6970G>A	c.(6970-6972)Gaa>Aaa	p.E2324K		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	2324										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TGCTGTTGTTCCTGAGAGTCT	0.343000														17			10		0	0	0.006214	0	0
TRHDE	29953	broad.mit.edu	37	12	72956724	72956724	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr12:72956724G>A	uc001sxa.3	+	8	1841	c.1811G>A	c.(1810-1812)gGa>gAa	p.G604E		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	604					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.L603F(1)		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						ACCATCTTGGGAAACACAACA	0.333000														73			71		0	0	0.003610	0	0
TAF1L	138474	broad.mit.edu	37	9	32633672	32633672	+	Missense_Mutation	SNP	G	A	A	rs144278499		TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:32633672G>A	uc003zrg.1	-	0	1996	c.1906C>T	c.(1906-1908)Cgc>Tgc	p.R636C	AX747113_uc003zrh.1_Non-coding_Transcript	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	636					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity	p.R636H(2)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AGAGGTGGGCGATGGAACTGC	0.478000														44			25		0	0	0.003330	0	0
MTCP1	4515	broad.mit.edu	37	X	154294261	154294261	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chrX:154294261G>A	uc004fmz.2	-	1	651	c.25C>T	c.(25-27)Cca>Tca	p.P9S	MTCP1NB_uc004fmy.3_Intron	NM_001018025	NP_001018025	P56278	MTCP1_HUMAN	Homo sapiens mature T-cell proliferation 1 (MTCP1), nuclear gene encoding mitochondrial protein, mRNA.	9					cell proliferation					large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	5	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGATCGGGTGGAGCCCCCACA	0.572000			T	TRA@	T cell prolymphocytic leukemia									8			34		0	0	0.004878	0	0
ADH1C	126	broad.mit.edu	37	4	100268181	100268181	+	RNA	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr4:100268181C>T	uc021xqi.1	-	2		c.326G>A				NM_000669		P00326	ADH1G_HUMAN	Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA.						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	ACTGTAGTCACCCCTTCTCAA	0.512000														10			35		0	0	0.003610	0	0
DUSP27	92235	broad.mit.edu	37	1	167095746	167095746	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:167095746C>T	uc001geb.1	+	4	1394	c.1378C>T	c.(1378-1380)Ccg>Tcg	p.P460S		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	460					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GCTGAACCGCCCGGACCACGG	0.682000														12			7		0	0	0.004482	0	0
KIF5A	3798	broad.mit.edu	37	12	57957968	57957968	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr12:57957968G>A	uc001sor.1	+	3	577	c.369G>A	c.(367-369)atG>atA	p.M123I	KIF5A_uc010srr.1_Intron	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	Homo sapiens kinesin family member 5A (KIF5A), mRNA.	123	Kinesin-motor.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						TCTACTCCATGGATGAGAACC	0.512000														36			22		0	0	0.002780	0	0
GJA8	2703	broad.mit.edu	37	1	147380919	147380919	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:147380919C>T	uc021ovm.1	+	0	837	c.837C>T	c.(835-837)ttC>ttT	p.F279F	GJA8_uc001epu.2_Silent_p.F279F	NM_005267	NP_005258	P48165	CXA8_HUMAN	Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.	279					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CCCACTATTTCCCCTTGACCG	0.527000														42			26		0	0	0.007291	0	0
DET1	55070	broad.mit.edu	37	15	89074080	89074080	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr15:89074080G>A	uc002bmq.2	-	2	1079	c.890C>T	c.(889-891)cCc>cTc	p.P297L	DET1_uc002bmp.4_Non-coding_Transcript|DET1_uc002bmr.2_Missense_Mutation_p.P286L|DET1_uc010bnk.2_Non-coding_Transcript	NM_017996	NP_001137546	Q7L5Y6	DET1_HUMAN	Homo sapiens de-etiolated homolog 1 (Arabidopsis) (DET1), transcript variant 1, mRNA.	286						nucleus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			ATCCCTAAAGGGATTGGCCAT	0.542000														8			10		0	0	0.001855	0	0
AKAP3	10566	broad.mit.edu	37	12	4736484	4736484	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr12:4736484G>A	uc001qnb.4	-	3	1828	c.1584C>T	c.(1582-1584)atC>atT	p.I528I		NM_006422	NP_006413	O75969	AKAP3_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 3 (AKAP3), mRNA.	528					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						GGGCAGACACGATCAGGTCCT	0.517000														1			8		0	0	0.004482	0	0
TPTE	7179	broad.mit.edu	37	21	10996061	10996061	+	RNA	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr21:10996061G>A	uc002yis.1	-	11		c.2125C>T						P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 2, mRNA.						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)		AGAGCCTGAGGAATCTTTTCT	0.383000														49			14		0	0	0.001855	0	0
BSND	7809	broad.mit.edu	37	1	55472707	55472707	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:55472707G>A	uc001cye.3	+	2	553	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K		NM_057176	NP_476517	Q8WZ55	BSND_HUMAN	Homo sapiens Bartter syndrome, infantile, with sensorineural deafness (Barttin) (BSND), mRNA.	104						basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						GCTGTGGGAGGAAGCCGCCTA	0.597000														17			33		0	0	0.003755	0	0
TACC2	10579	broad.mit.edu	37	10	124008655	124008655	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr10:124008655G>A	uc001lfv.3	+	20	9004	c.8644G>A	c.(8644-8646)Gag>Aag	p.E2882K	TACC2_uc001lfw.3_Missense_Mutation_p.E1028K|TACC2_uc009xzx.3_Missense_Mutation_p.E2760K|TACC2_uc010qtv.2_Missense_Mutation_p.E2809K|TACC2_uc001lfx.3_Missense_Mutation_p.E509K|TACC2_uc001lfy.3_Missense_Mutation_p.E505K|TACC2_uc001lfz.3_Missense_Mutation_p.E960K|TACC2_uc001lga.3_Missense_Mutation_p.E930K|TACC2_uc009xzy.3_Missense_Mutation_p.E942K|TACC2_uc001lgb.3_Missense_Mutation_p.E840K	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	2882						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GGTGCACGCGGAGGAGAAACT	0.607000														1			21		0	0	0.001882	0	0
VCAN	1462	broad.mit.edu	37	5	82833200	82833200	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:82833200G>A	uc003kii.3	+	7	4734	c.4378G>A	c.(4378-4380)Gaa>Aaa	p.E1460K	VCAN_uc003kij.3_Missense_Mutation_p.E473K|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.E124K	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	1460	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AGCCAAAACGGAATTGTCTAC	0.423000														6			5		0	0	0.000602	0	0
SLC15A2	6565	broad.mit.edu	37	3	121642073	121642073	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr3:121642073C>T	uc003eep.2	+	10	1115	c.962C>T	c.(961-963)tCa>tTa	p.S321L	SLC15A2_uc011bjn.1_Missense_Mutation_p.S290L	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	321					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	CCCTAGGGTTCACGATGGACT	0.423000														45			32		0	0	0.003271	0	0
CKAP2L	150468	broad.mit.edu	37	2	113504016	113504016	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:113504016G>A	uc002tie.2	-	5	1818	c.1739C>T	c.(1738-1740)gCc>gTc	p.A580V	CKAP2L_uc002tif.2_Missense_Mutation_p.A169V|CKAP2L_uc010yxp.1_Missense_Mutation_p.A415V	NM_152515	NP_689728	Q8IYA6	CKP2L_HUMAN	Homo sapiens cytoskeleton associated protein 2-like (CKAP2L), mRNA.	580						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						ATTTTTAATGGCCTCTTCATA	0.378000														75			71		0	0	0.003610	0	0
LAMB4	22798	broad.mit.edu	37	7	107684225	107684225	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:107684225G>A	uc010ljo.1	-	28	4527	c.4443C>T	c.(4441-4443)ttC>ttT	p.F1481F	LAMB4_uc003vey.2_Silent_p.F1481F|LAMB4_uc010ljp.1_Silent_p.F450F	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	1481	Domain I.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CTTTTTTGATGAAAAGATTGA	0.299000														30			19		0	0	0.007413	0	0
LOC93432	93432	broad.mit.edu	37	7	141833863	141833863	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:141833863G>A	uc003vwz.3	+	6	717	c.658G>A	c.(658-660)Ggg>Agg	p.G220R						Homo sapiens maltase-glucoamylase (alpha-glucosidase) pseudogene (LOC93432), non-coding RNA.																		CAATGTGTATGGGCTGGGAGA	0.602000														0			3		0	0	0.000248	0	0
FAM193A	8603	broad.mit.edu	37	4	2698261	2698261	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr4:2698261G>A	uc010ick.3	+	16	3176	c.3175G>A	c.(3175-3177)Gaa>Aaa	p.E1059K	FAM193A_uc003gfd.3_Missense_Mutation_p.E859K|FAM193A_uc011bvm.2_Missense_Mutation_p.E881K|FAM193A_uc011bvn.2_Missense_Mutation_p.E859K|FAM193A_uc010icl.3_Missense_Mutation_p.E859K|FAM193A_uc011bvo.2_Non-coding_Transcript|FAM193A_uc010icm.3_Non-coding_Transcript|FAM193A_uc003gfe.2_Missense_Mutation_p.E713K	NM_003704	NP_003695	P78312	F193A_HUMAN	Homo sapiens family with sequence similarity 193, member A (FAM193A), mRNA.	859										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						AAATAGCTCCGAAACCAAACC	0.512000														24			24		0	0	0.003330	0	0
ZNF831	128611	broad.mit.edu	37	20	57768585	57768585	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr20:57768585G>A	uc002yan.3	+	0	2511	c.2511G>A	c.(2509-2511)gaG>gaA	p.E837E		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	837						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AGCAACCAGAGCCTGTGAGCG	0.637000														30			15		0	0	0.006122	0	0
C17orf74	201243	broad.mit.edu	37	17	7330297	7330298	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr17:7330297_7330298CC>TT	uc002ggw.3	+	2	1060_1061	c.987_988CC>TT	c.(985-990)tcccgg>tcTTgg	p.R330W	SPEM1_uc010vtw.1_Intron	NM_175734	NP_783861	Q0P670	CQ074_HUMAN	Homo sapiens chromosome 17 open reading frame 74 (C17orf74), mRNA.	330						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				CCTCGGTGTCCCGGAACGCCCG	0.693000														3			8		0	0	0.004672	0	0
CFL1	1072	broad.mit.edu	37	11	65622828	65622828	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:65622828G>A	uc001ofs.3	-	3	1011	c.480C>T	c.(478-480)tcC>tcT	p.S160S	CFL1_uc001oft.3_Silent_p.S160S	NM_005507	NP_005498	P23528	COF1_HUMAN	Homo sapiens cofilin 1 (non-muscle) (CFL1), mRNA.	160					Rho protein signal transduction|actin cytoskeleton organization|anti-apoptosis|axon guidance|platelet activation|platelet degranulation|response to virus	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|kidney(1)|large_intestine(2)|lung(2)	6				READ - Rectum adenocarcinoma(159;0.169)		TGCCCTCCAGGGAGATGACGG	0.622000														20			43		0	0	0.003214	0	0
abParts	0	broad.mit.edu	37	14	106667675	106667675	+	RNA	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr14:106667675C>T	uc021ser.1	-	1314		c.27252G>A								Parts of antibodies, mostly variable regions.																		GATGGTGAATCGGCCCTTCAC	0.537000														71			67		0	0	0.003610	0	0
FBLN7	129804	broad.mit.edu	37	2	112940464	112940465	+	Missense_Mutation	DNP	CC	TA	TA			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:112940464_112940465CC>TA	uc002tho.1	+	5	1038_1039	c.767_768CC>TA	c.(766-768)ccc>cTA	p.P256L	FBLN7_uc010fki.1_Missense_Mutation_p.P210L|FBLN7_uc010fkj.1_Intron	NM_153214	NP_694946	Q53RD9	FBLN7_HUMAN	Homo sapiens fibulin 7 (FBLN7), transcript variant 1, mRNA.	256	EGF-like 2; calcium-binding (Potential).				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						TGCACCTGCCCCGGTGGATACC	0.649000														40			24		0	0	0.004672	0	0
MPI	4351	broad.mit.edu	37	15	75189490	75189490	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr15:75189490G>A	uc002azc.1	+	6	988	c.983G>A	c.(982-984)cGg>cAg	p.R328Q	MPI_uc002azd.1_Intron|MPI_uc010ulx.1_Missense_Mutation_p.R278Q|MPI_uc002aze.1_Missense_Mutation_p.R267Q	NM_002435	NP_002426	P34949	MPI_HUMAN	Homo sapiens mannose phosphate isomerase (MPI), mRNA.	328					GDP-mannose biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						CTCCCAACACGGAGTCAGGAA	0.537000														58			35		0	0	0.006999	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102508412	102508412	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr14:102508412C>T	uc001yks.2	+	65	12329	c.12165C>T	c.(12163-12165)gtC>gtT	p.V4055V		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	4055	AAA 6 (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GTGGACATGTCGAGGACCTTG	0.517000														37			20		0	0	0.002299	0	0
NDRG3	57446	broad.mit.edu	37	20	35293686	35293686	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr20:35293686G>A	uc002xfw.3	-	10	853	c.711C>T	c.(709-711)atC>atT	p.I237I	NDRG3_uc002xfx.3_Silent_p.I225I|NDRG3_uc010zvq.2_Silent_p.I142I|NDRG3_uc010zvr.2_Silent_p.I125I	NM_032013	NP_114402	Q9UGV2	NDRG3_HUMAN	Homo sapiens NDRG family member 3 (NDRG3), transcript variant 1, mRNA.	237					cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				TGGGTCTTTCGATCTCCAGGT	0.383000														113			102		0	0	0.003610	0	0
AKAP17A	8227	broad.mit.edu	37	X	1712776	1712776	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chrX:1712776C>T	uc004cqa.3	+	1	617	c.421C>T	c.(421-423)Ctg>Ttg	p.L141L	AKAP17A_uc010ncx.1_Silent_p.L141L|AKAP17A_uc004cqb.3_Non-coding_Transcript|ASMT_uc004cqd.3_5'Flank	NM_005088	NP_005079	Q02040	AK17A_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 17A (AKAP17A), transcript variant 1, mRNA.	141					B cell activation|RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|signal transduction	nuclear speck|spliceosomal complex	RNA binding|nucleotide binding|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						GAACGAGACCCTGCCGGGGGA	0.667000														17			68		0	0	0.003610	0	0
NCR2	9436	broad.mit.edu	37	6	41303997	41303997	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:41303997G>A	uc003oqh.2	+	1	312	c.225G>A	c.(223-225)atG>atA	p.M75I	NCR2_uc003oqj.2_Missense_Mutation_p.M75I|NCR2_uc003oqi.2_Missense_Mutation_p.M75I	NM_004828	NP_004819	O95944	NCTR2_HUMAN	Homo sapiens natural cytotoxicity triggering receptor 2 (NCR2), transcript variant 1, mRNA.	75	Ig-like.		M -> V (in dbSNP:rs9471577).		cellular defense response	integral to plasma membrane	transmembrane receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					CCAGGACGATGGCTTGGACCT	0.542000														79			19		0	0	0.001216	0	0
IKZF3	22806	broad.mit.edu	37	17	37922133	37922133	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr17:37922133G>A	uc002hsu.3	-	7	1502	c.1440C>T	c.(1438-1440)ttC>ttT	p.F480F	IKZF3_uc002htd.3_Silent_p.F446F|IKZF3_uc010cwd.3_Silent_p.F337F|IKZF3_uc002hsv.3_Silent_p.F407F|IKZF3_uc010cwe.3_Silent_p.F346F|IKZF3_uc010cwf.3_Silent_p.F298F|IKZF3_uc010cwg.3_Silent_p.F259F|IKZF3_uc002hsw.3_Silent_p.F441F|IKZF3_uc002hsx.3_Silent_p.F424F|IKZF3_uc002hsy.3_Silent_p.F441F|IKZF3_uc002hsz.3_Silent_p.F385F|IKZF3_uc002hta.3_Silent_p.F402F|IKZF3_uc002htb.3_Non-coding_Transcript|IKZF3_uc010cwh.3_Silent_p.F393F|IKZF3_uc002htc.3_Silent_p.F233F|IKZF3_uc010wel.2_Silent_p.F233F	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	Homo sapiens IKAROS family zinc finger 3 (Aiolos) (IKZF3), transcript variant 1, mRNA.	480					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)			TGTTACACTCGAAAGGGTCAC	0.517000														42			38		0	0	0.006999	0	0
RGPD3	653489	broad.mit.edu	37	2	107032315	107032315	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:107032315C>T	uc010ywi.1	-	20	5112	c.5055G>A	c.(5053-5055)gaG>gaA	p.E1685E		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	1685					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CCTTAATTTGCTCCATAAGGA	0.423000														39			25		0	0	0.002836	0	0
GRB14	2888	broad.mit.edu	37	2	165383593	165383593	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:165383593C>T	uc002ucl.3	-	3	1075	c.534G>A	c.(532-534)ggG>ggA	p.G178G	GRB14_uc010zcv.2_Silent_p.G91G	NM_004490	NP_004481	Q14449	GRB14_HUMAN	Homo sapiens growth factor receptor-bound protein 14 (GRB14), mRNA.	178	Ras-associating.				blood coagulation|leukocyte migration	Golgi membrane|cytosol|endosome membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						CTTCTTCTATCCCCCAGTTGG	0.328000														43			27		0	0	0.007291	0	0
XIRP1	165904	broad.mit.edu	37	3	39230032	39230032	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr3:39230032G>A	uc003cjk.2	-	1	1134	c.905C>T	c.(904-906)cCc>cTc	p.P302L	XIRP1_uc003cji.3_Missense_Mutation_p.P302L|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Missense_Mutation_p.P302L	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	302							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		ACTGACGTCGGGCCGGGCCCC	0.637000														27			25		0	0	0.003330	0	0
C9orf40	55071	broad.mit.edu	37	9	77563005	77563005	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:77563005G>A	uc004ajo.4	-	1	819	c.544C>T	c.(544-546)Cag>Tag	p.Q182*		NM_017998	NP_060468	Q8IXQ3	CI040_HUMAN	Homo sapiens chromosome 9 open reading frame 40 (C9orf40), mRNA.	182										lung(2)|stomach(1)	3						TTCCTGCCCTGAAGTGTTGCT	0.468000														49			45		0	0	0.003610	0	0
KIAA0368	23392	broad.mit.edu	37	9	114176929	114176929	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:114176929G>A	uc004bfe.1	-	19	2301	c.2301C>T	c.(2299-2301)atC>atT	p.I767I	5S_rRNA_uc022blx.1_5'Flank|KIAA0368_uc010muc.1_Silent_p.I589I	NM_001080398	NP_001073867			Homo sapiens KIAA0368 (KIAA0368), mRNA.											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						AGTACAGAACGATCTACAAAC	0.502000														9			17		0	0	0.007413	0	0
SLC24A3	57419	broad.mit.edu	37	20	19261689	19261689	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr20:19261689G>A	uc002wrl.3	+	1	426	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K	LOC100130264_uc010zsd.1_Intron	NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	77						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TCTGACTTCCGAAGATGCCGG	0.542000														19			19		0	0	0.001216	0	0
ESYT3	83850	broad.mit.edu	37	3	138189764	138189764	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr3:138189764C>T	uc003esk.3	+	16	1862	c.1636C>T	c.(1636-1638)Ccc>Tcc	p.P546S	ESYT3_uc010hug.2_Non-coding_Transcript	NM_031913	NP_114119	A0FGR9	ESYT3_HUMAN	Homo sapiens extended synaptotagmin-like protein 3 (ESYT3), mRNA.	546						integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						GCTGGAGGTCCCCCTGTGCCA	0.577000														136			97		0	0	0.003610	0	0
KCNJ15	3772	broad.mit.edu	37	21	39671204	39671204	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr21:39671204C>T	uc021wjc.1	+	0	21	c.21C>T	c.(19-21)ggC>ggT	p.G7G	KCNJ15_uc002ywv.3_Silent_p.G7G|KCNJ15_uc002yww.3_Silent_p.G7G|KCNJ15_uc002ywx.3_Silent_p.G7G	NM_170737	NP_733933	Q99712	IRK15_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 15 (KCNJ15), transcript variant 3, mRNA.	7					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						TTCACATCGGCATGTCCAGCA	0.517000														22			15		0	0	0.004007	0	0
KIAA1804	84451	broad.mit.edu	37	1	233514925	233514925	+	Missense_Mutation	SNP	G	A	A	rs76363344	by1000genomes	TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:233514925G>A	uc001hvt.4	+	8	2434	c.2173G>A	c.(2173-2175)Ggg>Agg	p.G725R	KIAA1804_uc001hvu.4_Missense_Mutation_p.G171R	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	725					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				AGCTCTGTATGGGTGCACCGT	0.537000														25			12		0	0	0.001368	0	0
ADAM28	10863	broad.mit.edu	37	8	24201063	24201063	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr8:24201063C>T	uc003xdy.3	+	17	2039	c.1956C>T	c.(1954-1956)atC>atT	p.I652I	ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Silent_p.I339I	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	652	EGF-like.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AAGGATGGATCCCTCCCGACT	0.488000														5			9		0	0	0.000978	0	0
OR2L8	391190	broad.mit.edu	37	1	248112615	248112615	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:248112615G>A	uc001idt.1	+	0	456	c.456G>A	c.(454-456)tcG>tcA	p.S152S	OR2L13_uc001ids.3_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 8 (OR2L8), mRNA.	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G151V(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TCATAGGCTCGATCAATGCTT	0.443000														84			31		0	0	0.003271	0	0
GCC2	9648	broad.mit.edu	37	2	109124082	109124082	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:109124082G>T	uc002tec.3	+	22	5205	c.5051G>T	c.(5050-5052)cGa>cTa	p.R1684L	GCC2_uc002ted.3_Missense_Mutation_p.R1583L|FLJ38668_uc002tee.4_Intron	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 2 (GCC2), transcript variant 1, mRNA.	1684	Mediates interaction with RAB9A.				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						TCTGGACTTCGATAGGTTGAT	0.318000														51			49		1.22119e-34	2.24617e-34	0.003610	1	0
MS4A6E	245802	broad.mit.edu	37	11	60105331	60105331	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:60105331G>A	uc001npd.3	+	1	279	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K		NM_139249	NP_640342	Q96DS6	M4A6E_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 6E (MS4A6E), mRNA.	89						integral to membrane	receptor activity	p.E89K(2)		endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						TAAGTTGGACGAAAAGGATAT	0.453000														39			38		0	0	0.007835	0	0
TEFM	79736	broad.mit.edu	37	17	29226322	29226322	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr17:29226322G>A	uc002hfu.2	-	3	1018	c.948C>T	c.(946-948)ttC>ttT	p.F316F	TEFM_uc002hfv.2_Non-coding_Transcript	NM_024683	NP_078959	Q96QE5	TEFM_HUMAN	Homo sapiens transcription elongation factor, mitochondrial (TEFM), nuclear gene encoding mitochondrial protein, mRNA.	316					oxidative phosphorylation|regulation of transcription, DNA-dependent|transcription from mitochondrial promoter	mitochondrial nucleoid|ribonucleoprotein complex	DNA polymerase processivity factor activity|nucleic acid binding|protein binding										CTGATGGGAAGAACACCCGAG	0.393000														51			53		0	0	0.003610	0	0
OASL	8638	broad.mit.edu	37	12	121471506	121471506	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr12:121471506C>T	uc001tzj.1	-	1	245	c.239G>A	c.(238-240)aGa>aAa	p.R80K	OASL_uc001tzk.1_Missense_Mutation_p.R80K	NM_003733	NP_003724	Q15646	OASL_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase-like (OASL), transcript variant 1, mRNA.	80					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CTCCACCTCTCTGGTGCTCCT	0.587000														150			102		0	0	0.003610	0	0
IMMT	10989	broad.mit.edu	37	2	86406557	86406557	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:86406557G>A	uc002sqz.4	-	3	697	c.309_splice	c.e3+1	p.S103_splice	IMMT_uc010yte.2_Splice_Site_p.S103_splice|IMMT_uc002srb.4_Splice_Site_p.S103_splice|IMMT_uc002sra.4_Splice_Site_p.S103_splice|IMMT_uc010ytd.2_Splice_Site_p.S103_splice|IMMT_uc002sre.3_Splice_Site_p.S103_splice|IMMT_uc010fgs.1_Splice_Site_p.S103_splice|IMMT_uc010ytf.1_Splice_Site_p.S103_splice	NM_006839	NP_006830	Q16891	IMMT_HUMAN	Homo sapiens inner membrane protein, mitochondrial (IMMT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	103						integral to mitochondrial inner membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AACTCTTACCGATTTCTTTGG	0.343000														22			12		0	0	0.001368	0	0
TMEM184A	202915	broad.mit.edu	37	7	1590456	1590456	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:1590456C>T	uc003skv.4	-	2	699	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K	TMEM184A_uc003skt.4_5'UTR|TMEM184A_uc021zyr.1_5'UTR	NM_001097620	NP_001091089	Q6ZMB5	T184A_HUMAN	Homo sapiens transmembrane protein 184A (TMEM184A), mRNA.	128						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		CGCCCACCTTCGTAGCAGTCC	0.662000														27			19		0	0	0.003330	0	0
HGF	3082	broad.mit.edu	37	7	81350155	81350155	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:81350155G>A	uc003uhl.3	-	9	1342	c.1177C>T	c.(1177-1179)Cgt>Tgt	p.R393C	HGF_uc003uhm.3_Missense_Mutation_p.R388C	NM_000601	NP_000592	P14210	HGF_HUMAN	Homo sapiens hepatocyte growth factor (hepapoietin A; scatter factor) (HGF), transcript variant 1, mRNA.	393	Kringle 4.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CCATTCCCACGATAACAATCT	0.333000														28			25		0	0	0.006320	0	0
H6PD	9563	broad.mit.edu	37	1	9324505	9324505	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:9324505C>T	uc001apt.3	+	4	2226	c.1953C>T	c.(1951-1953)atC>atT	p.I651I		NM_004285	NP_004276	O95479	G6PE_HUMAN	Homo sapiens hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) (H6PD), mRNA.	651	6-phosphogluconolactonase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|NADP binding|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	ACTACAACATCCACCCCATGC	0.652000														35			47		0	0	0.003610	0	0
GRK7	131890	broad.mit.edu	37	3	141497624	141497624	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr3:141497624C>T	uc011bnd.2	+	0	582	c.498C>T	c.(496-498)ttC>ttT	p.F166F		NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN	Homo sapiens G protein-coupled receptor kinase 7 (GRK7), mRNA.	166	RGS.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						TTAAGGATTTCGTGACCAGCG	0.537000														73			58		0	0	0.003610	0	0
ATP4A	495	broad.mit.edu	37	19	36051324	36051324	+	Missense_Mutation	SNP	G	A	A	rs142971981		TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:36051324G>A	uc002oal.1	-	5	757	c.728C>T	c.(727-729)aCg>aTg	p.T243M	ATP4A_uc010eee.1_5'Flank	NM_000704	NP_000695	P20648	ATP4A_HUMAN	Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA.	243					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	p.C242*(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GCTCTCGTGCGTGCACTCGGG	0.657000														57			32		0	0	0.002836	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52004713	52004713	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:52004713C>T	uc002pwx.1	-	0	331	c.275G>A	c.(274-276)cGa>cAa	p.R92Q	SIGLEC12_uc002pww.1_5'Flank|SIGLEC12_uc010eoy.1_5'UTR	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA.	92	Ig-like V-type 1.				cell adhesion	integral to membrane	sugar binding	p.R92R(1)		NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GAGGTGGAATCGGTCCCGAGT	0.552000														85			68		0	0	0.003610	0	0
C14orf45	80127	broad.mit.edu	37	14	74516885	74516885	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr14:74516885G>A	uc010tup.2	+	7	1396	c.1273G>A	c.(1273-1275)Gag>Aag	p.E425K	C14orf45_uc001xpm.1_Non-coding_Transcript	NM_025057	NP_079333	Q8ND07	CN045_HUMAN	Homo sapiens chromosome 14 open reading frame 45 (C14orf45), mRNA.	425										large_intestine(1)|lung(2)|prostate(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.00351)		GGATCTTCTGGAGGCCGAAAA	0.358000														54			35		0	0	0.005524	0	0
TRPM6	140803	broad.mit.edu	37	9	77454999	77454999	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:77454999C>G	uc004ajl.1	-	4	723	c.485G>C	c.(484-486)gGt>gCt	p.G162A	TRPM6_uc004ajk.1_Missense_Mutation_p.G157A|TRPM6_uc022bib.1_Missense_Mutation_p.G157A|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Missense_Mutation_p.G162A|TRPM6_uc010mpd.1_Missense_Mutation_p.G162A|TRPM6_uc010mpe.1_Missense_Mutation_p.G162A|TRPM6_uc004ajn.1_Missense_Mutation_p.G162A	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	162					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						TTTAACCAAACCTTGGCTGAA	0.453000														50			22		0	0	0.002780	0	0
RBP3	5949	broad.mit.edu	37	10	48387882	48387882	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr10:48387882T>G	uc001jez.3	-	0	3110	c.2996A>C	c.(2995-2997)aAg>aCg	p.K999T		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	999	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	p.K999N(1)		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)	ATGGGCTGCCTTCAGGTGTGG	0.612000														9			67		0	0	0.003610	0	0
TCRBV12S2	0	broad.mit.edu	37	7	142231820	142231820	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:142231820C>T	uc003vyh.2	-	1	195	c.97G>A	c.(97-99)Gag>Aag	p.E33K	TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron|TCRBV12S2_uc022anm.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		CTTCCTGTCTCTGTGATCTTG	0.507000														20			18		0	0	0.006122	0	0
FGD2	221472	broad.mit.edu	37	6	36993606	36993606	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:36993606G>A	uc010jwp.1	+	13	1668	c.1497G>A	c.(1495-1497)ctG>ctA	p.L499L	FGD2_uc003ong.2_Silent_p.L221L|FGD2_uc011dtv.1_Silent_p.L127L|FGD2_uc003onj.1_Silent_p.L76L	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA.	499					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|early endosome membrane|lamellipodium|nucleus|ruffle membrane	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding	p.E498K(1)		central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						GGGCCGAACTGAAATACGACG	0.627000														74			43		0	0	0.003610	0	0
DUSP27	92235	broad.mit.edu	37	1	167097079	167097079	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:167097079C>T	uc001geb.1	+	4	2727	c.2711C>T	c.(2710-2712)tCc>tTc	p.S904F		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	904	Ser-rich.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CGCAGTAATTCCCAGAAACCT	0.483000														32			37		0	0	0.001951	0	0
SLFN12L	100506736	broad.mit.edu	37	17	33849309	33849309	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr17:33849309C>T	uc002hjn.3	-	1	804	c.90G>A	c.(88-90)agG>agA	p.R30R		NM_001195790	NP_001182719	Q6IEE8	SN12L_HUMAN	Homo sapiens schlafen family member 12-like (SLFN12L), mRNA.	0						integral to membrane	ATP binding			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						TGATGAAATTCCTCAGAAACT	0.383000														11			6		0	0	0.001168	0	0
KIAA0895	23366	broad.mit.edu	37	7	36397176	36397176	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:36397176C>T	uc003tfd.2	-	2	253	c.202G>A	c.(202-204)Gaa>Aaa	p.E68K	KIAA0895_uc003tfc.2_Missense_Mutation_p.E55K|KIAA0895_uc011kax.1_Missense_Mutation_p.E17K|KIAA0895_uc003tfb.2_Missense_Mutation_p.E17K|KIAA0895_uc011kaw.2_5'UTR|KIAA0895_uc003tfe.3_Missense_Mutation_p.E55K|KIAA0895_uc011kay.2_Missense_Mutation_p.E17K	NM_001100425	NP_001093895	Q8NCT3	K0895_HUMAN	Homo sapiens KIAA0895 (KIAA0895), transcript variant 1, mRNA.	68										breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TTAGCAAGTTCTTGCTCAGGC	0.333000														21			15		0	0	0.003163	0	0
KLHL1	57626	broad.mit.edu	37	13	70681651	70681651	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr13:70681651C>T	uc001vip.3	-	0	975	c.181G>A	c.(181-183)Gag>Aag	p.E61K	KLHL1_uc010thm.2_Missense_Mutation_p.E61K|ATXN8OS_uc010aej.1_Non-coding_Transcript	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	Homo sapiens kelch-like 1 (Drosophila) (KLHL1), mRNA.	61	Ser-rich.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CCGCTTCTCTCTTGGCTTTTG	0.612000														53			36		0	0	0.002852	0	0
CERKL	375298	broad.mit.edu	37	2	182468748	182468748	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:182468748G>A	uc002unx.3	-	1	398	c.297C>T	c.(295-297)ttC>ttT	p.F99F	CERKL_uc010frk.3_Non-coding_Transcript|CERKL_uc002uny.3_Silent_p.F99F|CERKL_uc010zfm.2_Silent_p.F99F|CERKL_uc002unz.3_5'UTR|CERKL_uc002uoa.3_Silent_p.F99F|CERKL_uc002uob.3_5'UTR|CERKL_uc002uoc.3_Silent_p.F99F|CERKL_uc021vth.1_5'UTR|CERKL_uc021vti.1_5'UTR|CERKL_uc021vtj.1_5'UTR|CERKL_uc021vtk.1_5'UTR|CERKL_uc021vtl.1_5'UTR|CERKL_uc021vtm.1_5'UTR|CERKL_uc002uod.2_5'UTR|CERKL_uc002uoe.3_Silent_p.F99F	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	Homo sapiens ceramide kinase-like (CERKL), transcript variant 2, mRNA.	99					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	Golgi apparatus|endoplasmic reticulum|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GTTTCACAGAGAATATGTCTT	0.313000														5			8		0	0	0.004482	0	0
WSCD2	9671	broad.mit.edu	37	12	108603912	108603912	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr12:108603912G>A	uc001tms.3	+	3	1256	c.512G>A	c.(511-513)gGc>gAc	p.G171D	WSCD2_uc001tmt.3_Missense_Mutation_p.G171D	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	Homo sapiens WSC domain containing 2 (WSCD2), mRNA.	171	WSC 1.					integral to membrane		p.G171G(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						TACCTGTATGGCGGGCTGGAG	0.652000														17			15		0	0	0.006122	0	0
TRPM6	140803	broad.mit.edu	37	9	77377279	77377279	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:77377279C>T	uc004ajl.1	-	25	4546	c.4308G>A	c.(4306-4308)atG>atA	p.M1436I	TRPM6_uc004ajk.1_Missense_Mutation_p.M1431I|TRPM6_uc022bib.1_Missense_Mutation_p.M1431I|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.M392I	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1436					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						GAGGGGAGCTCATTGTCATGG	0.473000														14			21		0	0	0.002780	0	0
PDZD2	23037	broad.mit.edu	37	5	32088006	32088006	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:32088006G>A	uc003jhl.3	+	19	4840	c.4452G>A	c.(4450-4452)agG>agA	p.R1484R	PDZD2_uc003jhm.3_Silent_p.R1484R	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	1484					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		p.P1483P(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						CCTCCCCGAGGAGGGCCTGGG	0.632000														9			12		0	0	0.001368	0	0
ACTL7B	10880	broad.mit.edu	37	9	111617666	111617666	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:111617666G>A	uc004bdi.3	-	0	610	c.545C>T	c.(544-546)tCg>tTg	p.S182L		NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN	Homo sapiens actin-like 7B (ACTL7B), mRNA.	182						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GGACAGCAACGACTGGGACGT	0.647000														25			16		0	0	0.006122	0	0
DNAH1	25981	broad.mit.edu	37	3	52365207	52365207	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr3:52365207C>T	uc011bef.2	+	6	1176	c.915C>T	c.(913-915)gtC>gtT	p.V305V	DNAH1_uc003ddt.1_Silent_p.V305V	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	305	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGTGCGAGGTCGGCGTCCTGG	0.582000														4			5		0	0	0.000602	0	0
SMPD3	55512	broad.mit.edu	37	16	68398948	68398948	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr16:68398948G>A	uc002ewa.3	-	3	1793	c.1371C>T	c.(1369-1371)atC>atT	p.I457I	SMPD3_uc010cfe.3_Silent_p.I457I|SMPD3_uc010vlh.2_Silent_p.I457I	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) (SMPD3), mRNA.	457					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	GTGTGCAGGCGATGTACCCGA	0.632000														28			17		0	0	0.002299	0	0
CDH18	1016	broad.mit.edu	37	5	19473520	19473520	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:19473520G>A	uc003jgd.3	-	12	2722	c.2188C>T	c.(2188-2190)Ccc>Tcc	p.P730S	CDH18_uc011cnm.2_3'UTR|CDH18_uc003jgc.3_Missense_Mutation_p.P730S|CDH18_uc021xwu.1_3'UTR	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	730					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TCATAAGGGGGAACGCTAGGG	0.493000														19			8		0	0	0.003080	0	0
ZNF813	126017	broad.mit.edu	37	19	53994434	53994434	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:53994434A>C	uc021uzf.1	+	0	224	c.128A>C	c.(127-129)gAc>gCc	p.D43A	ZNF813_uc010eqq.1_Intron|ZNF813_uc002qbu.2_Missense_Mutation_p.R316S	NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN	Homo sapiens zinc finger protein 813 (ZNF813), mRNA.	0	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		ACCTTAAAAGACATAGGAGAA	0.388000														35			23		0	0	0.003330	0	0
TNFAIP2	7127	broad.mit.edu	37	14	103600051	103600051	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr14:103600051C>T	uc001ymm.1	+	9	1865	c.1734C>T	c.(1732-1734)ctC>ctT	p.L578L	TNFAIP2_uc010awo.1_Silent_p.L238L|TNFAIP2_uc010txz.1_Silent_p.L247L|TNFAIP2_uc010tya.1_Silent_p.L61L	NM_006291	NP_006282	Q03169	TNAP2_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 2 (TNFAIP2), mRNA.	578					angiogenesis|cell differentiation	extracellular space				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			AGCCTGCTCTCCCTACGCTGG	0.637000														18			13		0	0	0.001855	0	0
FOSL2	2355	broad.mit.edu	37	2	28635174	28635174	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:28635174C>T	uc002rma.3	+	3	1649	c.840C>T	c.(838-840)ctC>ctT	p.L280L	FOSL2_uc021vfg.1_Silent_p.L272L|FOSL2_uc010ymi.2_Silent_p.L241L	NM_005253	NP_005244	P15408	FOSL2_HUMAN	Homo sapiens FOS-like antigen 2 (FOSL2), mRNA.	280					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					CCTCGAACCTCGTCTTCACCT	0.622000														18			14		0	0	0.004990	0	0
SMAD2	4087	broad.mit.edu	37	18	45395668	45395668	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr18:45395668T>C	uc002lcy.3	-	3	714	c.466A>G	c.(466-468)Aaa>Gaa	p.K156E	SMAD2_uc002lcz.3_Missense_Mutation_p.K156E|SMAD2_uc010xdc.2_Missense_Mutation_p.K126E|SMAD2_uc010xdd.1_Missense_Mutation_p.K126E	NM_005901	NP_005892	Q15796	SMAD2_HUMAN	Homo sapiens SMAD family member 2 (SMAD2), transcript variant 1, mRNA.	156	MH1.				SMAD protein complex assembly|anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	I-SMAD binding|R-SMAD binding|activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						TCATCCTTTTTAAGATTAAAA	0.373000														8			9		0	0	0.006214	0	0
DARS	1615	broad.mit.edu	37	2	136741005	136741005	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:136741005T>A	uc002tux.1	-	1	270	c.86A>T	c.(85-87)tAt>tTt	p.Y29F	DARS_uc010fnj.1_Intron	NM_001349	NP_001340	P14868	SYDC_HUMAN	Homo sapiens aspartyl-tRNA synthetase (DARS), mRNA.	29					aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	ATP binding|aminoacylase activity|aspartate-tRNA ligase activity|nucleic acid binding|protein binding	p.R28R(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	AGATATTCCATATCTCTCTTT	0.294000														16			10		0	0	0.006214	0	0
CATSPER4	378807	broad.mit.edu	37	1	26517206	26517206	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:26517206G>A	uc010oez.2	+	0	88	c.88G>A	c.(88-90)Ggg>Agg	p.G30R	CATSPER4_uc010oey.1_5'UTR|CATSPER4_uc009vsf.3_Non-coding_Transcript	NM_198137	NP_937770	Q7RTX7	CTSR4_HUMAN	Homo sapiens cation channel, sperm associated 4 (CATSPER4), mRNA.	30					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		GGACCGTATGGGGTTTGGAGG	0.602000														22			50		0	0	0.003610	0	0
PDE10A	10846	broad.mit.edu	37	6	165806224	165806224	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:165806224G>A	uc003qun.3	-	16	1782	c.1537C>T	c.(1537-1539)Cct>Tct	p.P513S	PDE10A_uc011egj.2_Non-coding_Transcript|PDE10A_uc011egk.2_Missense_Mutation_p.P443S|PDE10A_uc003quo.3_Missense_Mutation_p.P523S	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	RecName: Full=cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A;          EC=3.1.4.17;          EC=3.1.4.35;	513					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	TTGTGATAAGGAACCCGCCGA	0.433000														33			17		0	0	0.001523	0	0
C10orf71	118461	broad.mit.edu	37	10	50531118	50531118	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr10:50531118C>T	uc021pqb.1	+	0	528	c.528C>T	c.(526-528)ttC>ttT	p.F176F	C10orf71_uc021pqa.1_Silent_p.F175F|C10orf71_uc021pqc.1_Silent_p.F176F	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	176								p.F176F(2)		endometrium(1)	1						CTCCCAAATTCGCTCCTCTTC	0.502000														6			16		0	0	0.006122	0	0
OTOF	9381	broad.mit.edu	37	2	26705348	26705348	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:26705348G>A	uc002rhk.3	-	13	1632	c.1505C>T	c.(1504-1506)tCg>tTg	p.S502L		NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	502	C2 2.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACCTTGTCCGAGTCTCGGAT	0.562000														52			41		0	0	0.003214	0	0
CYLC1	1538	broad.mit.edu	37	X	83129186	83129186	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chrX:83129186G>A	uc004eei.1	+	3	1491	c.1470G>A	c.(1468-1470)ttG>ttA	p.L490L	CYLC1_uc004eeh.1_Silent_p.L489L	NM_021118	NP_066941	P35663	CYLC1_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA.	490					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	p.E490Q(1)		NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						AATCTGATTTGGAGTTAAAGA	0.348000														1			4		0	0	0.000248	0	0
HAND2	9464	broad.mit.edu	37	4	174450253	174450253	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr4:174450253G>A	uc003itg.1	-	0	278	c.188C>T	c.(187-189)tCc>tTc	p.S63F	NBLA00301_uc003itj.3_5'Flank|NBLA00301_uc010irf.3_5'Flank|NBLA00301_uc010irg.3_5'Flank|NBLA00301_uc011ckd.2_5'Flank|NBLA00301_uc010irh.3_5'Flank|NBLA00301_uc010iri.3_5'Flank|NBLA00301_uc010irj.3_5'Flank|NBLA00301_uc010irk.3_5'Flank|NBLA00301_uc003itl.4_5'Flank|NBLA00301_uc010irl.3_5'Flank|NBLA00301_uc010irn.3_5'Flank|NBLA00301_uc010irm.3_5'Flank|NBLA00301_uc003itk.2_5'Flank|HAND2_uc003ith.1_Missense_Mutation_p.S63F			P61296	HAND2_HUMAN	Homo sapiens heart and neural crest derivatives expressed 2 (HAND2), mRNA.	63					adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development	nuclear chromatin|transcription factor complex	RNA polymerase II regulatory region sequence-specific DNA binding|activating transcription factor binding|protein homodimerization activity|transcription coactivator activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	13		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		GGGGCTGTAGGACAGGGCCAT	0.751000														2			6		0	0	0.003080	0	0
XKR4	114786	broad.mit.edu	37	8	56436121	56436121	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr8:56436121G>A	uc003xsf.3	+	2	1320	c.1288G>A	c.(1288-1290)Gag>Aag	p.E430K		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA.	430						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			CAAATGGGAAGAGATTGTGTT	0.443000														111			43		0	0	0.002522	0	0
SERPINA1	5265	broad.mit.edu	37	14	94845850	94845850	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr14:94845850C>T	uc001ycy.4	-	5	1570	c.1016G>A	c.(1015-1017)gGg>gAg	p.G339E	SERPINA1_uc001ycw.4_Non-coding_Transcript|SERPINA1_uc001ycx.4_Missense_Mutation_p.G339E|SERPINA1_uc010auy.3_Missense_Mutation_p.G339E|SERPINA1_uc001ycz.4_Missense_Mutation_p.G339E|SERPINA1_uc010auz.3_Missense_Mutation_p.G339E|SERPINA1_uc010ava.3_Missense_Mutation_p.G339E|SERPINA1_uc001ydb.4_Missense_Mutation_p.G339E|SERPINA1_uc010avb.3_Missense_Mutation_p.G339E|SERPINA1_uc001ydc.4_Missense_Mutation_p.G339E|SERPINA1_uc010auw.3_Missense_Mutation_p.G339E|SERPINA1_uc010aux.3_Missense_Mutation_p.G339E|SERPINA1_uc001yda.1_Missense_Mutation_p.G339E	NM_001002236	NP_001121179	P01009	A1AT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1), transcript variant 2, mRNA.	339					acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity	p.G339W(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	GAGGTCAGCCCCATTGCTGAA	0.532000														53			65		0	0	0.003610	0	0
OTUD7B	56957	broad.mit.edu	37	1	149939341	149939342	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:149939341_149939342GG>AA	uc001etn.3	-	3	735_736	c.379_380CC>TT	c.(379-381)ccc>TTc	p.P127F	OTUD7B_uc001eto.3_Intron	NM_020205	NP_064590	Q6GQQ9	OTU7B_HUMAN	Homo sapiens OTU domain containing 7B (OTUD7B), mRNA.	127					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|cysteine-type peptidase activity|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			CATTTCCAGGGGGTGCTCATTG	0.569000														20			11		0	0	0.004672	0	0
MUC2	4583	broad.mit.edu	37	11	1093576	1093576	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:1093576G>A	uc001lsx.1	+	30	5422	c.5395G>A	c.(5395-5397)Gtg>Atg	p.V1799M		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	1889						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	cacaactacGGTGACCGCAAC	0.582000														6			4		0	0	0.000248	0	0
GPR31	2853	broad.mit.edu	37	6	167571229	167571230	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:167571229_167571230CC>TT	uc011egq.2	-	0	90_91	c.90_91GG>AA	c.(88-93)ctgggc>ctAAgc	p.G31S		NM_005299	NP_005290	O00270	GPR31_HUMAN	Homo sapiens G protein-coupled receptor 31 (GPR31), mRNA.	31						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		ACCGCGTTGCCCAGCAGACCCA	0.653000														17			12		0	0	0.004672	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554422	140554422	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:140554422C>T	uc003lit.3	+	0	2180	c.2006C>T	c.(2005-2007)cCc>cTc	p.P669L	PCDHB8_uc011dai.2_5'Flank	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	669	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCTCCCAGCCCTACCTGCGG	0.692000														187			42		0	0	0.007835	0	0
DENND1A	57706	broad.mit.edu	37	9	126214610	126214610	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:126214610A>T	uc011lzm.1	-	14	1362	c.1148T>A	c.(1147-1149)aTt>aAt	p.I383N	DENND1A_uc011lzl.1_Missense_Mutation_p.I190N|DENND1A_uc004bny.1_Missense_Mutation_p.I154N|DENND1A_uc004bnz.1_Missense_Mutation_p.I415N|DENND1A_uc004boa.1_Missense_Mutation_p.I415N|DENND1A_uc004bob.1_Missense_Mutation_p.I385N|DENND1A_uc004boc.3_Missense_Mutation_p.I383N	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN	Homo sapiens DENN/MADD domain containing 1A (DENND1A), transcript variant 1, mRNA.	415						cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						AGTATTCAGAATTGCTCCACT	0.413000														58			40		0	0	0.002522	0	0
VTN	7448	broad.mit.edu	37	17	26696364	26696365	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr17:26696364_26696365GG>AT	uc002hbc.3	-	3	763_764	c.614_615CC>AT	c.(613-615)ccc>cAT	p.P205H	TMEM199_uc010wah.1_Intron|SARM1_uc010waj.1_Intron|SARM1_uc010crl.1_5'Flank	NM_000638	NP_000629	P04004	VTNC_HUMAN	Homo sapiens vitronectin (VTN), mRNA.	205					cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Urokinase(DB00013)	CGGCATCGATGGGGCCCTCGAT	0.584000														30			19		0	0	0.004672	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178555107	178555107	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:178555107C>T	uc003mjw.3	-	16	2572	c.2470G>A	c.(2470-2472)Gga>Aga	p.G824R		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	824	Spacer.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G824V(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CGGGTGTCTCCCACCGGGATG	0.577000														23			16		0	0	0.004990	0	0
GPR98	84059	broad.mit.edu	37	5	89940622	89940622	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:89940622G>A	uc003kju.3	+	14	2930	c.2834G>A	c.(2833-2835)gGg>gAg	p.G945E	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	945	Calx-beta 7.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CCTGTACAAGGGACTGTTGTC	0.373000														24			23		0	0	0.002299	0	0
MST1P9	11223	broad.mit.edu	37	1	17084510	17084510	+	Silent	SNP	G	A	A	rs61769731	by1000genomes	TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:17084510G>A	uc010ock.2	-	11	1588	c.1588C>T	c.(1588-1590)Cta>Tta	p.L530L	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_Silent_p.L130L					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.									p.L525L(2)|p.L530L(2)		breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						ACCCGCTGTAGGCCTGGCTCT	0.577000														92			7		0	0	0.003080	0	0
APOB	338	broad.mit.edu	37	2	21234304	21234304	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:21234304C>T	uc002red.3	-	25	5564	c.5436G>A	c.(5434-5436)ggG>ggA	p.G1812G		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1812					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GCCGTAGTTTCCCATTGTTGG	0.403000														172			143		0	0	0.003610	0	0
KIF21B	23046	broad.mit.edu	37	1	200977899	200977899	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:200977899C>T	uc001gvs.2	-	2	762	c.445G>A	c.(445-447)Gag>Aag	p.E149K	KIF21B_uc009wzl.2_Missense_Mutation_p.E149K|KIF21B_uc001gvr.2_Missense_Mutation_p.E149K|KIF21B_uc010ppn.2_Missense_Mutation_p.E149K	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	149	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CACAGTACCTCCAGAAACTGG	0.637000														54			19		0	0	0.001523	0	0
LLGL2	3993	broad.mit.edu	37	17	73552144	73552144	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr17:73552144C>T	uc002joh.3	+	2	247	c.93C>T	c.(91-93)ttC>ttT	p.F31F	LLGL2_uc002jog.1_Silent_p.F31F|LLGL2_uc010dgf.1_Silent_p.F31F|LLGL2_uc002joi.3_Silent_p.F31F|LLGL2_uc010dgg.2_Silent_p.F31F|LLGL2_uc002joj.3_5'Flank	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA.	31					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			AGCATGGCTTCCCGCACCAGC	0.672000														21			30		0	0	0.004289	0	0
PRKCB	5579	broad.mit.edu	37	16	24196829	24196829	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr16:24196829G>A	uc002dmd.3	+	14	1860	c.1663G>A	c.(1663-1665)Gaa>Aaa	p.E555K	PRKCB_uc002dme.3_Missense_Mutation_p.E555K	NM_212535	NP_997700	P05771	KPCB_HUMAN	Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	555	Protein kinase.				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)	ATCCATCATGGAACACAACGT	0.517000														21			8		0	0	0.001368	0	0
SIM1	6492	broad.mit.edu	37	6	100841650	100841650	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:100841650G>A	uc003pqj.4	-	9	1750	c.1283C>T	c.(1282-1284)tCc>tTc	p.S428F	SIM1_uc021zdg.1_Missense_Mutation_p.S428F|SIM1_uc010kcu.3_Missense_Mutation_p.S428F	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	428	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GTCGTGCTGGGAGCCAGGCCT	0.602000														37			26		0	0	0.006320	0	0
HLA-F	3134	broad.mit.edu	37	6	29693014	29693014	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:29693014G>A	uc003nno.4	+	3	941	c.817G>A	c.(817-819)Gga>Aga	p.G273R	HLA-F_uc010jrl.3_Missense_Mutation_p.G273R|HLA-F_uc003nnm.4_Intron|HLA-F_uc011dlx.1_Missense_Mutation_p.G273R|HLA-F_uc011dly.1_Non-coding_Transcript	NM_001098479	NP_001091949	P30511	HLAF_HUMAN	Homo sapiens major histocompatibility complex, class I, F (HLA-F), transcript variant 1, mRNA.	273	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane	MHC class I receptor activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						GGTGCCTCCTGGAGAGGAACA	0.617000														61			30		0	0	0.002445	0	0
NLRP11	204801	broad.mit.edu	37	19	56319229	56319229	+	Missense_Mutation	SNP	G	A	A	rs141366900		TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:56319229G>A	uc010ygf.2	-	5	2704	c.1993C>T	c.(1993-1995)Cgc>Tgc	p.R665C	NLRP11_uc002qlz.3_Intron|NLRP11_uc002qmb.3_Missense_Mutation_p.R566C|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	665							ATP binding	p.R665C(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TTGAGTGTGCGAAGTTTACAG	0.423000														39			21		0	0	0.002299	0	0
LRRC55	219527	broad.mit.edu	37	11	56950114	56950114	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:56950114C>T	uc001njl.2	+	0	894	c.747C>T	c.(745-747)ccC>ccT	p.P249P		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.	219	LRRCT.					integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						CCATGGAACCCCTGCTGAAGT	0.627000														52			37		0	0	0.007835	0	0
COL10A1	1300	broad.mit.edu	37	6	116442256	116442256	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:116442256C>T	uc003pwm.3	-	2	1119	c.1023G>A	c.(1021-1023)ggG>ggA	p.G341G	NT5DC1_uc003pwj.3_Intron|NT5DC1_uc003pwl.3_Intron	NM_000493	NP_000484	Q03692	COAA1_HUMAN	Homo sapiens collagen, type X, alpha 1 (COL10A1), mRNA.	341	Triple-helical region.				skeletal system development	collagen	metal ion binding			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		GTCCCATATTCCCAGGGGGTC	0.632000														15			15		0	0	0.004007	0	0
ADCY3	109	broad.mit.edu	37	2	25141758	25141758	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:25141758G>A	uc010ykm.2	-	0	298	c.99C>T	c.(97-99)ggC>ggT	p.G33G	ADCY3_uc002rfs.4_Silent_p.G33G	NM_004036	NP_004027	O60266	ADCY3_HUMAN	Homo sapiens adenylate cyclase 3 (ADCY3), mRNA.	33					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CATGGGTCCGGCCCACCCCGC	0.647000														26			21		0	0	0.002780	0	0
FMN2	56776	broad.mit.edu	37	1	240371372	240371372	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:240371372C>T	uc010pye.2	+	5	3497	c.3272C>T	c.(3271-3273)cCa>cTa	p.P1091L	FMN2_uc010pyd.2_Missense_Mutation_p.P1087L	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1087	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.P1090S(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GGCATACCCCCACCTCCCCCT	0.726000														0			10		0	0	0.002450	0	0
ACVR1C	130399	broad.mit.edu	37	2	158406749	158406749	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:158406749G>A	uc002tzk.4	-	3	943	c.700C>T	c.(700-702)Cgt>Tgt	p.R234C	ACVR1C_uc002tzl.4_Missense_Mutation_p.R154C|ACVR1C_uc010fof.3_Intron|ACVR1C_uc010foe.3_Missense_Mutation_p.R184C	NM_145259	NP_001104501	Q8NER5	ACV1C_HUMAN	Homo sapiens activin A receptor, type IC (ACVR1C), transcript variant 1, mRNA.	234	Protein kinase.				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	ATP binding|activin receptor activity, type I|transforming growth factor beta receptor activity	p.R234P(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						TCTGCCTCACGAAACCAAGAT	0.428000														56			57		0	0	0.003610	0	0
RPSA	3921	broad.mit.edu	37	19	24010532	24010532	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:24010532C>T	uc002nrn.3	+	3	992	c.569C>T	c.(568-570)tCc>tTc	p.S190F		NM_002295	NP_002286	P08865	RSSA_HUMAN	Homo sapiens ribosomal protein SA (RPSA), transcript variant 1, mRNA.	190					cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|rRNA export from nucleus|ribosomal small subunit assembly|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane	protein binding|receptor activity|ribosome binding|structural constituent of ribosome			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		GGCACCATTTCCCGTGAACAC	0.532000														9			15		0	0	0.003954	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102442131	102442131	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr14:102442131C>T	uc001yks.2	+	1	503	c.339C>T	c.(337-339)tcC>tcT	p.S113S		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	113	Stem (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GGGTTAAATCCAATAGGTGAG	0.289000														59			40		0	0	0.002222	0	0
CUX2	23316	broad.mit.edu	37	12	111785947	111785947	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr12:111785947G>A	uc001tsa.2	+	21	4433	c.4279G>A	c.(4279-4281)Gcc>Acc	p.A1427T		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	1427	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A1427T(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CCCACCTGGCGCCCCCCCTGC	0.657000														31			32		0	0	0.001786	0	0
CSMD3	114788	broad.mit.edu	37	8	113697808	113697808	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr8:113697808G>A	uc003ynu.3	-	14	2468	c.2309C>T	c.(2308-2310)tCc>tTc	p.S770F	CSMD3_uc003yns.3_Missense_Mutation_p.S42F|CSMD3_uc003ynt.3_Missense_Mutation_p.S730F|CSMD3_uc011lhx.2_Missense_Mutation_p.S666F	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	770	CUB 4.					integral to membrane|plasma membrane		p.S770C(2)|p.S730C(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATCAAACTGGGATTCCAGGTC	0.428000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				22			9		0	0	0.000673	0	0
ENOX2	10495	broad.mit.edu	37	X	129771274	129771274	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chrX:129771274G>A	uc004evw.3	-	11	1745	c.1327C>T	c.(1327-1329)Cac>Tac	p.H443Y	ENOX2_uc004evx.3_Missense_Mutation_p.H414Y|ENOX2_uc004evy.3_Missense_Mutation_p.H414Y|ENOX2_uc004evv.3_Missense_Mutation_p.H268Y	NM_182314	NP_006366	Q16206	ENOX2_HUMAN	Homo sapiens ecto-NOX disulfide-thiol exchanger 2 (ENOX2), transcript variant 2, mRNA.	443					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						TCTTCTCTGTGGACTTTGCCT	0.478000														15			95		0	0	0.003610	0	0
KCNJ14	3770	broad.mit.edu	37	19	48967909	48967909	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:48967909C>T	uc002pje.1	+	2	1591	c.1186C>T	c.(1186-1188)Ctg>Ttg	p.L396L	KCNJ14_uc002pjf.1_Silent_p.L396L	NM_013348	NP_733838	Q9UNX9	IRK14_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 14 (KCNJ14), transcript variant 1, mRNA.	396						voltage-gated potassium channel complex	inward rectifier potassium channel activity	p.L396V(2)		cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)		TGAACTTGCTCTGAGCTGCTG	0.542000														37			49		0	0	0.003610	0	0
PCDHB7	56129	broad.mit.edu	37	5	140552891	140552891	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:140552891G>A	uc003lit.3	+	0	649	c.475G>A	c.(475-477)Gat>Aat	p.D159N		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	159	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D159N(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGTGCACAGGATTCAGATGT	0.448000														51			21		0	0	0.001882	0	0
RELN	5649	broad.mit.edu	37	7	103270438	103270438	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:103270438C>T	uc022ajr.1	-	19	2811	c.2651G>A	c.(2650-2652)gGa>gAa	p.G884E	RELN_uc022ajq.1_Missense_Mutation_p.G884E|RELN_uc010liz.3_Missense_Mutation_p.G884E	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	884					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	p.G884A(2)		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)		AAGGTAGAATCCCAGAGACTG	0.403000														12			14		0	0	0.004007	0	0
AHI1	54806	broad.mit.edu	37	6	135639733	135639733	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:135639733G>A	uc003qgi.3	-	25	3734	c.3350C>T	c.(3349-3351)cCt>cTt	p.P1117L	AHI1_uc003qgf.3_Non-coding_Transcript|AHI1_uc003qgg.3_Missense_Mutation_p.P567L|AHI1_uc003qgh.3_Missense_Mutation_p.P1117L|AHI1_uc003qgj.3_Missense_Mutation_p.P1117L|AHI1_uc003qgk.4_Non-coding_Transcript	NM_001134831	NP_060121	Q8N157	AHI1_HUMAN	Homo sapiens Abelson helper integration site 1 (AHI1), transcript variant 1, mRNA.	1117						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		CTTTATCTCAGGAGGCAGTTC	0.413000														7			3		0	0	0.004672	0	0
SIM1	6492	broad.mit.edu	37	6	100838966	100838966	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:100838966C>T	uc003pqj.4	-	11	2038	c.1571_splice	c.e11-1	p.G524_splice	SIM1_uc021zdg.1_Splice_Site_p.G524_splice|SIM1_uc010kcu.3_Splice_Site_p.G524_splice	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	524	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		AATGACCTCGCCCTAAAAATT	0.383000														21			20		0	0	0.001216	0	0
TPX2	22974	broad.mit.edu	37	20	30371683	30371683	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr20:30371683C>T	uc002wwp.1	+	11	2070	c.1372C>T	c.(1372-1374)Cat>Tat	p.H458Y	TPX2_uc010gdv.1_Missense_Mutation_p.H494Y	NM_012112	NP_036244	Q9ULW0	TPX2_HUMAN	Homo sapiens TPX2, microtubule-associated, homolog (Xenopus laevis) (TPX2), mRNA.	458					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			CTTTGAATTTCATTCCAGACC	0.438000														54			36		0	0	0.006999	0	0
SVEP1	79987	broad.mit.edu	37	9	113170146	113170146	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:113170146G>A	uc010mtz.3	-	37	8071	c.7734C>T	c.(7732-7734)atC>atT	p.I2578I	SVEP1_uc010mty.3_Silent_p.I504I	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	2578	Sushi 20.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AACTGTAGATGATTATGGCAC	0.473000														23			20		0	0	0.001882	0	0
RDH16	8608	broad.mit.edu	37	12	57346775	57346775	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr12:57346775C>T	uc001smi.4	-	3	745	c.573_splice	c.e3-1	p.R191_splice	RDH16_uc009zpa.3_Splice_Site_p.R46_splice	NM_003708	NP_003699	O75452	RDH16_HUMAN	Homo sapiens retinol dehydrogenase 16 (all-trans) (RDH16), mRNA.	191					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						GAGTTCCCTCCTGCAAGACAG	0.428000														45			25		0	0	0.006320	0	0
OR51D1	390038	broad.mit.edu	37	11	4661965	4661965	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:4661965C>T	uc010qyk.2	+	0	1021	c.945C>T	c.(943-945)gtC>gtT	p.V315V		NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily D, member 1 (OR51D1), mRNA.	315					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTTCAAGGGTCCTCTGTATGT	0.468000														4			18		0	0	0.007413	0	0
CATSPERB	79820	broad.mit.edu	37	14	92136247	92136247	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr14:92136247G>A	uc001xzs.1	-	13	1338	c.1198C>T	c.(1198-1200)Cca>Tca	p.P400S	CATSPERB_uc010aub.1_5'UTR	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	400					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		p.P400S(2)		NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				CGAAAAATTGGAAATTTTGAT	0.408000														41			32		0	0	0.001512	0	0
AVIL	10677	broad.mit.edu	37	12	58204681	58204681	+	Missense_Mutation	SNP	C	T	T	rs150762636	by1000genomes	TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr12:58204681C>T	uc001sqj.2	-	4	505	c.476G>A	c.(475-477)cGa>cAa	p.R159Q	AVIL_uc009zqe.2_Missense_Mutation_p.R152Q|AVIL_uc001sqk.1_5'Flank|AVIL_uc001sql.4_Missense_Mutation_p.R136Q|JA611266_uc021qzr.1_5'Flank	NM_006576	NP_006567	O75366	AVIL_HUMAN	Homo sapiens advillin (AVIL), mRNA.	159	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					GACATCACCTCGGTTGAAACT	0.542000														64			43		0	0	0.002852	0	0
MRPS31	10240	broad.mit.edu	37	13	41345346	41345346	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr13:41345346C>T	uc001uxm.4	-	1	1	c.-74_splice	c.e1-1			NM_005830	NP_005821	Q92665	RT31_HUMAN	Homo sapiens mitochondrial ribosomal protein S31 (MRPS31), nuclear gene encoding mitochondrial protein, mRNA.							mitochondrion|ribosome	protein domain specific binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		CCCGCCCTCTCTTCCGCTTCC	0.637000														12			4		0	0	0.000248	0	0
MUC16	94025	broad.mit.edu	37	19	9088636	9088636	+	Missense_Mutation	SNP	C	T	T	rs148517753	by1000genomes	TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:9088636C>T	uc002mkp.3	-	0	3383	c.3179G>A	c.(3178-3180)gGa>gAa	p.G1060E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1060	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						AGCTGTGGTTCCAATGGGCAG	0.483000														75			35		0	0	0.004878	0	0
C2orf53	339779	broad.mit.edu	37	2	27360450	27360450	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:27360450G>A	uc002rjb.2	-	2	1328	c.748C>T	c.(748-750)Cct>Tct	p.P250S	PREB_uc002rix.1_5'Flank|PREB_uc002riy.1_5'Flank|C2orf53_uc021vfb.1_Missense_Mutation_p.P250S	NM_178553	NP_848648	Q53SZ7	CB053_HUMAN	Homo sapiens chromosome 2 open reading frame 53 (C2orf53), mRNA.	250										cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGCATATAGGATACTCCACG	0.667000														37			22		0	0	0.003330	0	0
MAP3K9	4293	broad.mit.edu	37	14	71209197	71209197	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr14:71209197G>A	uc001xmm.3	-	5	1438	c.1438C>T	c.(1438-1440)Ctg>Ttg	p.L480L	MAP3K9_uc010ttk.2_Silent_p.L217L|MAP3K9_uc001xmk.3_Silent_p.L174L|MAP3K9_uc001xml.3_Silent_p.L480L	NM_033141	NP_149132	P80192	M3K9_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.	480	Leucine-zipper 2.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		TCCCGTTCCAGGATGTCAATC	0.617000														24			16		0	0	0.007413	0	0
PMPCA	23203	broad.mit.edu	37	9	139317583	139317583	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:139317583C>T	uc004chl.3	+	12	1450	c.1445C>T	c.(1444-1446)tCt>tTt	p.S482F	PMPCA_uc011mdz.2_Missense_Mutation_p.S351F|PMPCA_uc010nbl.3_Missense_Mutation_p.S382F|PMPCA_uc004chn.1_3'UTR	NM_015160	NP_055975	Q10713	MPPA_HUMAN	Homo sapiens peptidase (mitochondrial processing) alpha (PMPCA), nuclear gene encoding mitochondrial protein, mRNA.	482					proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		AGAGTCGCTTCTAAGATGCTC	0.632000														18			12		0	0	0.001855	0	0
SDK2	54549	broad.mit.edu	37	17	71364685	71364685	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr17:71364685C>T	uc010dfm.3	-	36	5028	c.5028G>A	c.(5026-5028)aaG>aaA	p.K1676K	SDK2_uc002jjt.4_Silent_p.K816K|SDK2_uc010dfn.2_Silent_p.K1355K	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	1676	Fibronectin type-III 11.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GGAAAAGCGTCTTCACTCGCT	0.587000														13			20		0	0	0.001216	0	0
CNTN4	152330	broad.mit.edu	37	3	2942404	2942404	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr3:2942404C>T	uc003bpc.3	+	10	1315	c.976C>T	c.(976-978)Cac>Tac	p.H326Y	CNTN4_uc003bpb.1_5'UTR|CNTN4_uc021wsg.1_Missense_Mutation_p.H326Y|CNTN4_uc003bpd.1_Missense_Mutation_p.H326Y|CNTN4_uc003bpe.3_5'UTR|CNTN4_uc003bpf.3_5'UTR	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	326	Ig-like C2-type 4.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AAATGATATTCACGTGGCCAT	0.363000														53			35		0	0	0.006230	0	0
POGZ	23126	broad.mit.edu	37	1	151380947	151380947	+	Silent	SNP	A	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:151380947A>T	uc001eyd.2	-	13	2487	c.2172T>A	c.(2170-2172)ccT>ccA	p.P724P	POGZ_uc021oyq.1_Silent_p.P671P|POGZ_uc010pdb.2_Silent_p.P715P|POGZ_uc010pdc.2_Silent_p.P662P|POGZ_uc009wmv.2_Silent_p.P629P|POGZ_uc001eyf.2_Silent_p.P680P|POGZ_uc010pdd.2_Silent_p.P215P	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	Homo sapiens pogo transposable element with ZNF domain (POGZ), transcript variant 1, mRNA.	724					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AGACAGGCAGAGGGTCCATTG	0.582000														27			11		0	0	0.000978	0	0
DOCK4	9732	broad.mit.edu	37	7	111484899	111484899	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:111484899G>A	uc003vfy.3	-	24	2925	c.2656C>T	c.(2656-2658)Ctg>Ttg	p.L886L	DOCK4_uc003vfw.3_Silent_p.L327L|DOCK4_uc003vfx.3_Silent_p.L886L	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	886					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GTCCTCAGCAGAATATCCAGC	0.443000														31			17		0	0	0.007413	0	0
NLRP8	126205	broad.mit.edu	37	19	56487665	56487665	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:56487665C>T	uc002qmh.3	+	7	2943	c.2872C>T	c.(2872-2874)Ctg>Ttg	p.L958L	NLRP8_uc010etg.3_Silent_p.L939L	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	958						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		ATTACAGATCCTGGAGTAAGT	0.458000														23			24		0	0	0.003954	0	0
PLCB1	23236	broad.mit.edu	37	20	8713998	8713998	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr20:8713998G>A	uc002wnb.3	+	18	2005	c.2002G>A	c.(2002-2004)Ggc>Agc	p.G668S	PLCB1_uc010zrb.1_Missense_Mutation_p.G567S|PLCB1_uc002wna.3_Missense_Mutation_p.G668S|PLCB1_uc002wnc.1_Missense_Mutation_p.G567S|PLCB1_uc002wnd.1_Missense_Mutation_p.G245S	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	668	C2.				CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						ATTTACTGAAGGCATCGTAGA	0.398000														38			25		0	0	0.005443	0	0
PLA2R1	22925	broad.mit.edu	37	2	160884796	160884796	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:160884796C>T	uc002ube.2	-	5	1244	c.1032G>A	c.(1030-1032)cgG>cgA	p.R344R	PLA2R1_uc010zcp.2_Silent_p.R344R|PLA2R1_uc002ubf.3_Silent_p.R344R	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	344	C-type lectin 1.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	p.R344L(1)	PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						ACTCACAATCCCGACTCCTCC	0.348000														58			35		0	0	0.002522	0	0
PCLO	27445	broad.mit.edu	37	7	82544364	82544364	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:82544364G>A	uc003uhx.2	-	6	13227	c.12938C>T	c.(12937-12939)tCc>tTc	p.S4313F	PCLO_uc003uhv.2_Missense_Mutation_p.S4313F|PCLO_uc010lec.3_Missense_Mutation_p.S1278F	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4244					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						CAGTCTTAGGGAAGAGCTAGA	0.453000														5			3		0	0	0.004672	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106558296	106558296	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:106558296G>A	uc009yxn.1	-	8	2661	c.2271C>T	c.(2269-2271)ttC>ttT	p.F757F	GUCY1A2_uc001pjg.1_Silent_p.F726F|GUCY1A2_uc010rvo.1_Silent_p.F747F	NM_000855	NP_000846	P33402	GCYA2_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 2 (GUCY1A2), transcript variant 2, mRNA.	726					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		TCTCCCGGAGGAACATGGTGC	0.493000														7			14		0	0	0.004990	0	0
LOC90925	0	broad.mit.edu	37	14	107259412	107259412	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr14:107259412G>A	uc001yta.1	-	1	298	c.267C>T	c.(265-267)atC>atT	p.I89I	abParts_uc021ser.1_Non-coding_Transcript					Homo sapiens hypothetical protein LOC90925, mRNA (cDNA clone MGC:3963 IMAGE:3621362), complete cds.																		TGTCGGCTGAGATGGTGACGT	0.577000														22			15		0	0	0.003163	0	0
SCUBE3	222663	broad.mit.edu	37	6	35211487	35211487	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:35211487G>A	uc003okf.1	+	15	2032	c.2026G>A	c.(2026-2028)Gat>Aat	p.D676N	SCUBE3_uc003okg.1_Missense_Mutation_p.D675N|SCUBE3_uc003okh.1_Missense_Mutation_p.D563N	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 3 (SCUBE3), mRNA.	676					protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						CCCTGGGAGTGATGCCCACGG	0.617000														126			19		0	0	0.001523	0	0
TOX3	27324	broad.mit.edu	37	16	52497973	52497973	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr16:52497973G>A	uc002egw.2	-	2	452	c.281C>T	c.(280-282)cCa>cTa	p.P94L	TOX3_uc010vgt.1_Missense_Mutation_p.P89L	NM_001080430	NP_001073899	O15405	TOX3_HUMAN	Homo sapiens TOX high mobility group box family member 3 (TOX3), transcript variant 1, mRNA.	94					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						GGAAGGCAATGGATCGCTGAG	0.532000														18			22		0	0	0.001882	0	0
KLHL22	84861	broad.mit.edu	37	22	20819167	20819167	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr22:20819167G>A	uc002zsl.2	-	3	1247	c.1090C>T	c.(1090-1092)Cga>Tga	p.R364*	KLHL22_uc011ahr.2_Nonsense_Mutation_p.R221*	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	Homo sapiens kelch-like 22 (Drosophila) (KLHL22), transcript variant 1, mRNA.	364					cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GACTCTGCTCGAAATCCTTGG	0.567000														9			57		0	0	0.003610	0	0
FBN2	2201	broad.mit.edu	37	5	127728875	127728875	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:127728875C>T	uc003kuu.3	-	9	1857	c.1418G>A	c.(1417-1419)gGa>gAa	p.G473E	FBN2_uc003kuv.2_Missense_Mutation_p.G440E	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	473					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CACACCGGCTCCCCCAACGCC	0.562000														34			18		0	0	0.007413	0	0
WISP3	8838	broad.mit.edu	37	6	112386105	112386105	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:112386105G>T	uc003pvo.3	+	2	684	c.548G>T	c.(547-549)tGc>tTc	p.C183F	WISP3_uc003pvm.3_Missense_Mutation_p.C165F|WISP3_uc003pvn.3_Non-coding_Transcript	NM_198239	NP_003871	O95389	WISP3_HUMAN	Homo sapiens WNT1 inducible signaling pathway protein 3 (WISP3), transcript variant 3, mRNA.	165					cell-cell signaling|regulation of cell growth|signal transduction	extracellular region|soluble fraction	growth factor activity|insulin-like growth factor binding			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		GGCAGTCACTGCTCTGGAGCT	0.507000														41			16		1.45105e-14	2.65192e-14	0.006122	1	0
TRAPPC10	7109	broad.mit.edu	37	21	45504055	45504055	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr21:45504055C>T	uc002zea.3	+	14	2460	c.2291C>T	c.(2290-2292)tCc>tTc	p.S764F	TRAPPC10_uc010gpo.3_Missense_Mutation_p.S475F|TRAPPC10_uc011afa.2_Missense_Mutation_p.S183F	NM_003274	NP_003265	P48553	TPC10_HUMAN	Homo sapiens trafficking protein particle complex 10 (TRAPPC10), mRNA.	764					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						TCGGTGGGCTCCGTGTGGTTC	0.577000														18			10		0	0	0.000673	0	0
MYOM3	127294	broad.mit.edu	37	1	24413209	24413209	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:24413209C>T	uc001bin.4	-	14	1886	c.1723G>A	c.(1723-1725)Gtg>Atg	p.V575M	MYOM3_uc001bim.4_Missense_Mutation_p.V232M|MYOM3_uc001bio.3_Missense_Mutation_p.V575M|MYOM3_uc001bip.1_Missense_Mutation_p.V232M	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	575	Fibronectin type-III 2.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		ATTGCTCGCACTCTGAAGACA	0.617000														57			43		0	0	0.003610	0	0
USH2A	7399	broad.mit.edu	37	1	216040469	216040469	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:216040469C>T	uc001hku.1	-	43	9112	c.8725G>A	c.(8725-8727)Ggt>Agt	p.G2909S		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	2909	Fibronectin type-III 15.				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)		GGTGTAAAACCCACACTGTTG	0.398000										HNSCC(13;0.011)				16			14		0	0	0.004990	0	0
SHD	56961	broad.mit.edu	37	19	4288330	4288330	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:4288330C>T	uc002lzw.2	+	4	2270	c.807C>T	c.(805-807)acC>acT	p.T269T		NM_020209	NP_064594	Q96IW2	SHD_HUMAN	Homo sapiens Src homology 2 domain containing transforming protein D (SHD), mRNA.	269	SH2.									breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		TCAGTGAGACCAACCCCCAGG	0.572000														32			16		0	0	0.004007	0	0
DSC1	1823	broad.mit.edu	37	18	28723636	28723636	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr18:28723636G>A	uc002kwn.3	-	7	1320	c.1058C>T	c.(1057-1059)tCt>tTt	p.S353F	DSC1_uc002kwm.3_Missense_Mutation_p.S353F	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	353	Cadherin 2.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TTCTGTGAAAGATGGTGGATT	0.348000														40			28		0	0	0.003755	0	0
GDAP1	54332	broad.mit.edu	37	8	75262797	75262797	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr8:75262797C>T	uc003yah.3	+	0	180	c.101C>T	c.(100-102)tCg>tTg	p.S34L	GDAP1_uc011lfj.2_5'UTR|GDAP1_uc003yai.3_Intron	NM_018972	NP_001035808	Q8TB36	GDAP1_HUMAN	Homo sapiens ganglioside-induced differentiation-associated protein 1 (GDAP1), transcript variant 1, mRNA.	34	GST N-terminal.					cytoplasm				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			TGGACGCATTCGTTCAGCTCT	0.622000														37			11		0	0	0.004007	0	0
BCR	613	broad.mit.edu	37	22	23653935	23653935	+	Silent	SNP	C	T	T	rs148447062		TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr22:23653935C>T	uc002zww.3	+	18	3830	c.3234C>T	c.(3232-3234)atC>atT	p.I1078I	BCR_uc002zwx.3_Silent_p.I1034I|BCR_uc011aiy.2_Silent_p.I667I	NM_004327	NP_004318	P11274	BCR_HUMAN	Homo sapiens breakpoint cluster region (BCR), transcript variant 1, mRNA.	1078	Rho-GAP.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						TGGAGGAGATCGAGCGCCGAG	0.632000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""									2			10		0	0	0.000673	0	0
KCNA4	3739	broad.mit.edu	37	11	30034137	30034137	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:30034137C>T	uc021qfi.1	-	0	89	c.89G>A	c.(88-90)cGg>cAg	p.R30Q	KCNA4_uc001msk.3_Missense_Mutation_p.R30Q	NM_002233	NP_002224	P22459	KCNA4_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA.	30						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						AAGCCTCTCCCGCTCCCGGGC	0.637000														71			32		0	0	0.006230	0	0
ACTN1	87	broad.mit.edu	37	14	69346820	69346820	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr14:69346820G>A	uc001xkl.3	-	17	2449	c.2139C>T	c.(2137-2139)atC>atT	p.I713I	ACTN1_uc001xkk.3_Silent_p.I309I|ACTN1_uc010ttb.2_Silent_p.I648I|ACTN1_uc001xkm.3_Silent_p.I713I|ACTN1_uc001xkn.3_Silent_p.I713I|ACTN1_uc010ttc.2_Silent_p.I298I	NM_001102	NP_001093	P12814	ACTN1_HUMAN	Homo sapiens actinin, alpha 1 (ACTN1), transcript variant 2, mRNA.	713	Interaction with DDN.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		AGCCCACACGGATGTGCTGCA	0.637000														44			23		0	0	0.003954	0	0
SBF2	81846	broad.mit.edu	37	11	9989952	9989952	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:9989952G>A	uc001mib.2	-	13	1674	c.1536C>T	c.(1534-1536)aaC>aaT	p.N512N	SBF2_uc001mif.3_Silent_p.N268N|SBF2_uc001mih.4_Silent_p.N41N	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	Homo sapiens SET binding factor 2 (SBF2), mRNA.	512					myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		GTGCATTCTGGTTCTTAGCAA	0.423000														84			77		0	0	0.003610	0	0
KIF1B	23095	broad.mit.edu	37	1	10335516	10335516	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:10335516C>T	uc001aqx.4	+	10	1115	c.913C>T	c.(913-915)Ccc>Tcc	p.P305S	KIF1B_uc001aqv.4_Missense_Mutation_p.P299S|KIF1B_uc001aqw.4_Missense_Mutation_p.P299S|KIF1B_uc001aqy.3_Missense_Mutation_p.P305S|KIF1B_uc001aqz.3_Missense_Mutation_p.P305S|KIF1B_uc001ara.3_Missense_Mutation_p.P305S|KIF1B_uc001arb.3_Missense_Mutation_p.P305S	NM_015074	NP_055889	O60333	KIF1B_HUMAN	Homo sapiens kinesin family member 1B (KIF1B), transcript variant 1, mRNA.	305	Interaction with KBP.|Kinesin-motor.				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		AGATTTTATTCCCTACAGGGA	0.318000														73			38		0	0	0.007835	0	0
DNAJC16	23341	broad.mit.edu	37	1	15860772	15860772	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:15860772T>C	uc001aws.3	+	2	328	c.208T>C	c.(208-210)Ttc>Ctc	p.F70L	DNAJC16_uc001awr.1_Missense_Mutation_p.F70L|DNAJC16_uc001awt.3_5'UTR	NM_015291	NP_056106	Q9Y2G8	DJC16_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 16 (DNAJC16), mRNA.	70	J.				cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		AGAAGACAAGTTCATTCAAAT	0.403000														35			36		0	0	0.003610	0	0
DHX16	8449	broad.mit.edu	37	6	30624244	30624244	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:30624244G>A	uc003nqz.3	-	14	2566	c.2354C>T	c.(2353-2355)cCa>cTa	p.P785L	DHX16_uc003nqy.3_Missense_Mutation_p.P304L|DHX16_uc011dmo.2_Missense_Mutation_p.P725L	NM_003587	NP_003578	O60231	DHX16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 16 (DHX16), transcript variant 1, mRNA.	785					RNA splicing|mRNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA helicase activity|nucleic acid binding			kidney(2)|ovary(2)	4						TGTCTCATATGGTGGAGGGTC	0.557000														90			17		0	0	0.007413	0	0
FLG	2312	broad.mit.edu	37	1	152275656	152275656	+	Silent	SNP	G	A	A	rs147335121		TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:152275656G>A	uc001ezu.1	-	2	11742	c.11706C>T	c.(11704-11706)ccC>ccT	p.P3902P		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3902	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.P3902L(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGAGGATCCGGGGTGTCTGG	0.517000									Ichthyosis					17			21		0	0	0.001523	0	0
ARPP21	10777	broad.mit.edu	37	3	35835378	35835378	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr3:35835378C>T	uc011axy.2	+	18	2582	c.2370C>T	c.(2368-2370)gtC>gtT	p.V790V	ARPP21_uc003cga.3_Silent_p.V770V|ARPP21_uc003cgb.3_Silent_p.V789V|ARPP21_uc003cgf.3_Silent_p.V625V|ARPP21_uc003cgg.3_Silent_p.V312V	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA.	789						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CCAGCACTGTCCCAGTGATGT	0.527000														8			7		0	0	0.001984	0	0
GTPBP1	9567	broad.mit.edu	37	22	39125599	39125599	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr22:39125599C>T	uc003awg.3	+	10	2003	c.1849C>T	c.(1849-1851)Cca>Tca	p.P617S		NM_004286	NP_004277	O00178	GTPB1_HUMAN	Homo sapiens GTP binding protein 1 (GTPBP1), mRNA.	617					immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					AGGAGCACCCCCACCTGGAGA	0.637000														0			5		0	0	0.001168	0	0
BCAS3	54828	broad.mit.edu	37	17	59067552	59067552	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr17:59067552C>T	uc002iyv.4	+	14	1551	c.1442C>T	c.(1441-1443)cCt>cTt	p.P481L	BCAS3_uc010wow.1_Missense_Mutation_p.P268L|BCAS3_uc002iyu.4_Missense_Mutation_p.P481L|BCAS3_uc002iyw.4_Missense_Mutation_p.P477L|BCAS3_uc002iyx.1_Missense_Mutation_p.P296L|BCAS3_uc002iyy.4_Missense_Mutation_p.P252L|BCAS3_uc002iyz.4_Missense_Mutation_p.P35L|BCAS3_uc002iza.4_Missense_Mutation_p.P35L	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	Homo sapiens breast carcinoma amplified sequence 3 (BCAS3), transcript variant 1, mRNA.	481						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			CGCTGTAGCCCTGTTCCAGGT	0.473000														13			26		0	0	0.002836	0	0
CACNA1S	779	broad.mit.edu	37	1	201016734	201016734	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:201016734C>T	uc001gvv.3	-	36	4689	c.4462G>A	c.(4462-4464)Gag>Aag	p.E1488K		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	1488					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CTCAGCTCCTCGTTGGCCTGC	0.512000														40			37		0	0	0.006999	0	0
KIAA1755	85449	broad.mit.edu	37	20	36841832	36841832	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr20:36841832C>T	uc002xhy.1	-	13	3487	c.3215G>A	c.(3214-3216)gGg>gAg	p.G1072E	KIAA1755_uc002xhv.1_Missense_Mutation_p.G136E|KIAA1755_uc002xhw.1_Missense_Mutation_p.G127E|KIAA1755_uc002xhx.1_Missense_Mutation_p.G350E	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	Homo sapiens KIAA1755 (KIAA1755), mRNA.	1072										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GGCTGCCACCCCTCTTCGTTC	0.602000														5			7		0	0	0.001984	0	0
AHNAK2	113146	broad.mit.edu	37	14	105408194	105408194	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr14:105408194G>A	uc010axc.1	-	6	13714	c.13594C>T	c.(13594-13596)Cca>Tca	p.P4532S	AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.P4432S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	4532						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGGCCTTCTGGAAGTTTCAAG	0.622000														60			67		0	0	0.003610	0	0
C15orf2	23742	broad.mit.edu	37	15	24921709	24921709	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr15:24921709C>T	uc001ywo.3	+	0	1169	c.695C>T	c.(694-696)tCc>tTc	p.S232F		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	232					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CCAGCGAGCTCCTGCTTGGAA	0.612000														31			21		0	0	0.001882	0	0
OTOGL	283310	broad.mit.edu	37	12	80761412	80761412	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr12:80761412G>A	uc001szd.3	+	52	6382	c.6376G>A	c.(6376-6378)Gaa>Aaa	p.E2126K	OTOGL_uc021rba.1_Missense_Mutation_p.E145K|OTOGL_uc009zsg.2_Missense_Mutation_p.E6K	NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						AAAGTATTTGGAAGAAGACTT	0.328000														3			3		0	0	0.000248	0	0
HGD	3081	broad.mit.edu	37	3	120352102	120352102	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr3:120352102C>T	uc003edw.3	-	12	1540	c.1080G>A	c.(1078-1080)ggG>ggA	p.G360G	HGD_uc003edv.3_Silent_p.G219G	NM_000187	NP_000178	Q93099	HGD_HUMAN	Homo sapiens homogentisate 1,2-dioxygenase (HGD), mRNA.	360					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		GACTCCCTCCCCCTGGCAGGA	0.537000														21			18		0	0	0.007413	0	0
F10	2159	broad.mit.edu	37	13	113803660	113803660	+	Silent	SNP	C	T	T	rs139031355		TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr13:113803660C>T	uc001vsx.3	+	7	1353	c.1296C>T	c.(1294-1296)ttC>ttT	p.F432F	F10_uc001vsy.3_3'UTR	NM_000504	NP_000495	P00742	FA10_HUMAN	Homo sapiens coagulation factor X (F10), mRNA.	432	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACACCTACTTCGTGACAGGCA	0.622000														44			22		0	0	0.001523	0	0
TTF1	7270	broad.mit.edu	37	9	135273568	135273568	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:135273568G>A	uc004cbl.3	-	3	1806	c.1737C>T	c.(1735-1737)atC>atT	p.I579I	TTF1_uc004cbm.3_Silent_p.I64I|TTF1_uc011mcp.2_Non-coding_Transcript	NM_007344	NP_031370	Q15361	TTF1_HUMAN	Homo sapiens transcription termination factor, RNA polymerase I (TTF1), transcript variant 1, mRNA.	579					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		TTAAGTTGGTGATCACAGATT	0.408000														33			22		0	0	0.004656	0	0
ENPEP	2028	broad.mit.edu	37	4	111441401	111441401	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr4:111441401G>A	uc003iab.4	+	9	1948	c.1606G>A	c.(1606-1608)Gac>Aac	p.D536N		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	536					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	AGAAGTAATGGACACCTGGAC	0.383000														1			12		0	0	0.001368	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85441190	85441190	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr12:85441190G>A	uc001tac.3	+	5	731	c.620G>A	c.(619-621)cGa>cAa	p.R207Q	LRRIQ1_uc021rbo.1_Missense_Mutation_p.R85Q|LRRIQ1_uc001taa.1_Missense_Mutation_p.R207Q|LRRIQ1_uc001tad.3_Missense_Mutation_p.R115Q	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	207	Glu-rich.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GAAGAAAAGCGACATTGCTGG	0.313000														109			76		0	0	0.003610	0	0
SERPINB11	89778	broad.mit.edu	37	18	61390600	61390600	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr18:61390600G>A	uc002ljk.4	+	8	1314	c.1143G>A	c.(1141-1143)acG>acA	p.T381T	SERPINB11_uc010xes.2_Silent_p.T207T|SERPINB11_uc010dqd.3_Intron|SERPINB11_uc002ljj.4_Silent_p.T268T|SERPINB11_uc010dqe.3_Silent_p.T181T|SERPINB11_uc010dqf.3_Silent_p.T180T	NM_080475	NP_536723	Q96P15	SPB11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) (SERPINB11), mRNA.	382					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				ATACCAACACGATCCTATTCT	0.502000														13			10		0	0	0.000673	0	0
ELOVL4	6785	broad.mit.edu	37	6	80629208	80629208	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:80629208C>T	uc003pja.4	-	4	917	c.598G>A	c.(598-600)Ggg>Agg	p.G200R	ELOVL4_uc011dyt.2_Intron	NM_022726	NP_073563	Q9GZR5	ELOV4_HUMAN	Homo sapiens ELOVL fatty acid elongase 4 (ELOVL4), mRNA.	200					fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups			central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	GCAGTTAACCCATAGTATGAG	0.348000														27			15		0	0	0.004007	0	0
MPND	84954	broad.mit.edu	37	19	4359234	4359234	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:4359234C>T	uc002mae.3	+	10	1378	c.1311C>T	c.(1309-1311)acC>acT	p.T437T	MPND_uc010dtx.2_Non-coding_Transcript|MPND_uc002mag.3_Silent_p.T417T	NM_032868	NP_116257	Q8N594	MPND_HUMAN	Homo sapiens MPN domain containing (MPND), transcript variant 1, mRNA.	437							peptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGAGCACACCTACCTCGACA	0.617000														72			29		0	0	0.003271	0	0
CPA3	1359	broad.mit.edu	37	3	148614490	148614490	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr3:148614490C>T	uc003ewm.3	+	10	1302	c.1250C>T	c.(1249-1251)tCc>tTc	p.S417F		NM_001870	NP_001861	P15088	CBPA3_HUMAN	Homo sapiens carboxypeptidase A3 (mast cell) (CPA3), mRNA.	417					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			AAGCATACTTCCTAAAGAACT	0.393000														43			21		0	0	0.001882	0	0
SSTR4	6754	broad.mit.edu	37	20	23016733	23016733	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr20:23016733C>T	uc002wsr.2	+	0	677	c.613C>T	c.(613-615)Ccg>Tcg	p.P205S		NM_001052	NP_001043	P31391	SSR4_HUMAN	Homo sapiens somatostatin receptor 4 (SSTR4), mRNA.	205					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GTGGCCACACCCGGCCTGGTC	0.652000														53			33		0	0	0.002445	0	0
DNAH5	1767	broad.mit.edu	37	5	13700913	13700913	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:13700913C>T	uc003jfd.2	-	77	13601	c.13559G>A	c.(13558-13560)tGg>tAg	p.W4520*	DNAH5_uc003jfc.2_Nonsense_Mutation_p.W688*	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4520					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)					GTCCTTCATCCATTTGGTGAC	0.478000									Kartagener syndrome					28			15		0	0	0.004007	0	0
ACTN2	88	broad.mit.edu	37	1	236881217	236881217	+	Silent	SNP	C	T	T	rs34403480	byFrequency	TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:236881217C>T	uc001hyf.2	+	1	390	c.186C>T	c.(184-186)atC>atT	p.I62I	ACTN2_uc001hyg.2_5'UTR|ACTN2_uc009xgi.1_Silent_p.I62I	NM_001103	NP_001094	P35609	ACTN2_HUMAN	Homo sapiens actinin, alpha 2 (ACTN2), mRNA.	62	Actin-binding.|CH 1.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	Z disc|actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	FATZ 1 binding|ZASP binding|actin binding|calcium ion binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin Z domain binding|titin binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TTGAGAACATCGAGGAAGACT	0.468000														14			11		0	0	0.001368	0	0
SOX6	55553	broad.mit.edu	37	11	16036519	16036520	+	Missense_Mutation	DNP	GA	AC	AC			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:16036519_16036520GA>AC	uc001mme.3	-	12	1772_1773	c.1739_1740TC>GT	c.(1738-1740)gtc>gGT	p.V580G	SOX6_uc001mmd.3_Missense_Mutation_p.V543G|SOX6_uc001mmf.3_Missense_Mutation_p.V540G|SOX6_uc001mmg.3_Missense_Mutation_p.V567G	NM_001145819	NP_001139291	P35712	SOX6_HUMAN	Homo sapiens SRY (sex determining region Y)-box 6 (SOX6), transcript variant 4, mRNA.	567					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						TAAGGTCGATGACACCTGGGCC	0.470000														4			4		0	0	0.004672	0	0
DPYD	1806	broad.mit.edu	37	1	98039524	98039524	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:98039524C>T	uc001drv.3	-	10	1268	c.1131G>A	c.(1129-1131)atG>atA	p.M377I		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	377					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TAGCAAGTTCCATCTAAAACA	0.353000														11			11		0	0	0.000978	0	0
CLEC14A	161198	broad.mit.edu	37	14	38723763	38723763	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr14:38723763C>T	uc001wum.1	-	0	1812	c.1465G>A	c.(1465-1467)Gat>Aat	p.D489N		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.	489						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		CCCTATGCATCACTAGAGCCA	0.502000														26			30		0	0	0.001786	0	0
CACNA1F	778	broad.mit.edu	37	X	49066207	49066207	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chrX:49066207G>A	uc004dnb.3	-	40	4798	c.4736C>T	c.(4735-4737)aCc>aTc	p.T1579I	CACNA1F_uc010nip.3_Missense_Mutation_p.T1568I	NM_005183	NP_005174	O60840	CAC1F_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), mRNA.	1579					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)	TTTGCCCACGGTGACCTCCTC	0.587000														2			21		0	0	0.002299	0	0
IKZF4	64375	broad.mit.edu	37	12	56427047	56427047	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr12:56427047C>T	uc001sjb.1	+	7	1098	c.939C>T	c.(937-939)atC>atT	p.I313I	IKZF4_uc010sqa.1_Silent_p.I266I|IKZF4_uc001sjc.1_Silent_p.I313I|IKZF4_uc001sjd.1_Silent_p.I211I|IKZF4_uc009zoi.1_Silent_p.I268I|IKZF4_uc001sje.1_Silent_p.I272I	NM_022465	NP_071910	Q9H2S9	IKZF4_HUMAN	Homo sapiens IKAROS family zinc finger 4 (Eos) (IKZF4), mRNA.	313					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			CAACTTTCATCGATCGTCTGG	0.512000														62			40		0	0	0.001951	0	0
PRLHR	2834	broad.mit.edu	37	10	120354745	120354745	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr10:120354745C>T	uc001ldp.1	-	1	151	c.12G>A	c.(10-12)tcG>tcA	p.S4S	PRLHR_uc021pzm.1_Silent_p.S4S	NM_004248	NP_004239	P49683	PRLHR_HUMAN	Homo sapiens prolactin releasing hormone receptor (PRLHR), mRNA.	4					female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		CCCGAGTGGTCGATGAGGCCA	0.632000														33			17		0	0	0.006122	0	0
SERPINA5	5104	broad.mit.edu	37	14	95054219	95054219	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr14:95054219G>A	uc001ydm.2	+	2	730	c.520G>A	c.(520-522)Gat>Aat	p.D174N	SERPINA5_uc010ave.2_Missense_Mutation_p.D174N|SERPINA5_uc001ydn.1_Missense_Mutation_p.D174N	NM_000624	NP_000615	P05154	IPSP_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 (SERPINA5), mRNA.	174					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	GCAGATCAATGATTATGTGGC	0.478000														51			38		0	0	0.004878	0	0
VARS	7407	broad.mit.edu	37	6	31748828	31748828	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:31748828G>A	uc003nxe.3	-	21	3040	c.2617C>T	c.(2617-2619)Ccc>Tcc	p.P873S	VARS_uc021yuy.1_5'Flank	NM_006295	NP_006286	P26640	SYVC_HUMAN	Homo sapiens valyl-tRNA synthetase (VARS), nuclear gene encoding mitochondrial protein, mRNA.	873					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	ACGTCCAGGGGATCGATGACA	0.622000														444			103		0	0	0.003610	0	0
AMBP	259	broad.mit.edu	37	9	116835237	116835237	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:116835237G>A	uc004bie.4	-	4	787	c.524C>T	c.(523-525)cCt>cTt	p.P175L	AMBP_uc011lxk.2_Missense_Mutation_p.P116L|AMBP_uc010mvc.1_Non-coding_Transcript	NM_001633	NP_001624	P02760	AMBP_HUMAN	Homo sapiens alpha-1-microglobulin/bikunin precursor (AMBP), mRNA.	175					cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of JNK cascade|negative regulation of immune response|protein-chromophore linkage	extracellular region|plasma membrane	IgA binding|calcium channel inhibitor activity|calcium oxalate binding|heme binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	GGAGTCCTCAGGGATGCCCAC	0.617000														11			16		0	0	0.001216	0	0
NPY1R	4886	broad.mit.edu	37	4	164246771	164246771	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr4:164246771G>A	uc003iqm.2	-	2	1304	c.839C>T	c.(838-840)aCc>aTc	p.T280I	NPY1R_uc021xtv.1_3'UTR|NPY1R_uc011cjj.2_Missense_Mutation_p.T37I	NM_000909	NP_000900	P25929	NPY1R_HUMAN	Homo sapiens neuropeptide Y receptor Y1 (NPY1R), mRNA.	280					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GTTAAAGATGGTAAGAGGGAG	0.428000														2			21		0	0	0.001523	0	0
PSD	5662	broad.mit.edu	37	10	104175863	104175863	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr10:104175863G>A	uc001kvg.1	-	2	1195	c.668C>T	c.(667-669)tCc>tTc	p.S223F	PSD_uc001kvh.1_5'UTR|PSD_uc009xxd.1_Missense_Mutation_p.S223F	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing (PSD), mRNA.	223					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CCGGGGGGAGGACCAGGTATC	0.532000														0			12		0	0	0.002450	0	0
EFCAB6	64800	broad.mit.edu	37	22	43972299	43972299	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr22:43972299C>T	uc003bdy.2	-	25	3612	c.3298G>A	c.(3298-3300)Gat>Aat	p.D1100N	EFCAB6_uc003bdz.2_Missense_Mutation_p.D948N|EFCAB6_uc010gzi.2_Missense_Mutation_p.D948N|EFCAB6_uc010gzj.1_Missense_Mutation_p.D326N	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	1100	EF-hand 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	p.K1099Q(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TAACAGAAATCCTTAAGAACT	0.318000														16			49		0	0	0.003610	0	0
POU5F1P4	645682	broad.mit.edu	37	1	155403344	155403344	+	RNA	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:155403344G>A	uc010pgc.1	-	0		c.130C>T			ASH1L_uc001fkt.3_Intron|ASH1L_uc009wqq.3_Intron|POU5F1P4_uc010pgd.2_Missense_Mutation_p.E118K					Homo sapiens partial mRNA for POU class 5 homeobox 1 pseudogene 4, clone BM-TAKA-09_AS.																		CGTGAAACTGGAGAAGGAGAA	0.577000														0			6		0	0	0.001168	0	0
IKZF4	64375	broad.mit.edu	37	12	56428417	56428417	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr12:56428417G>A	uc001sjb.1	+	8	1219	c.1060G>A	c.(1060-1062)Gaa>Aaa	p.E354K	IKZF4_uc010sqa.1_Missense_Mutation_p.E307K|IKZF4_uc001sjc.1_Missense_Mutation_p.E354K|IKZF4_uc001sjd.1_Missense_Mutation_p.E252K|IKZF4_uc009zoi.1_Missense_Mutation_p.E309K|IKZF4_uc001sje.1_Missense_Mutation_p.E313K	NM_022465	NP_071910	Q9H2S9	IKZF4_HUMAN	Homo sapiens IKAROS family zinc finger 4 (Eos) (IKZF4), mRNA.	354					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			GGGTGGCTATGAAAAGGATGT	0.577000														68			43		0	0	0.002852	0	0
ELTD1	64123	broad.mit.edu	37	1	79470895	79470895	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:79470895G>A	uc001diq.4	-	1	188	c.32C>T	c.(31-33)tCc>tTc	p.S11F		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	11					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding	p.S11F(2)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		CAACAAAGTGGAAAAAACCAC	0.323000														30			26		0	0	0.004656	0	0
RGS22	26166	broad.mit.edu	37	8	101092463	101092463	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr8:101092463G>A	uc003yjb.1	-	3	433	c.238C>T	c.(238-240)Ccc>Tcc	p.P80S	RGS22_uc003yja.1_5'UTR|RGS22_uc003yjc.1_Missense_Mutation_p.P80S|RGS22_uc010mbo.1_Non-coding_Transcript|RGS22_uc022azh.1_5'UTR	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	80					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TCATAAATGGGATTTCGAGGT	0.338000														27			52		0	0	0.003610	0	0
C20orf26	26074	broad.mit.edu	37	20	20257922	20257922	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr20:20257922C>T	uc002wru.3	+	21	2730	c.2616C>T	c.(2614-2616)tcC>tcT	p.S872S	C20orf26_uc010zse.2_Silent_p.S852S|C20orf26_uc002wrw.3_Non-coding_Transcript	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	872										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CGCCCGCCTCCACCATCACCT	0.612000														32			14		0	0	0.002299	0	0
KRTAP4-3	85290	broad.mit.edu	37	17	39324368	39324368	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr17:39324368G>A	uc010cxl.3	-	0	57	c.57C>T	c.(55-57)ctC>ctT	p.L19L		NM_033187	NP_149443	Q9BYR4	KRA43_HUMAN	Homo sapiens keratin associated protein 4-3 (KRTAP4-3), mRNA.	19						keratin filament				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			TCTCCTGGCCGAGACCTTGAC	0.637000														21			25		0	0	0.006320	0	0
TRAV20	28663	broad.mit.edu	37	14	22508931	22508931	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr14:22508931C>A	uc021rpo.1	+	0	89	c.23C>A	c.(22-24)gCa>gAa	p.A8E	TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.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_uc010tmm.2_Intron|TRAV20_uc021rpp.1_5'Flank					Homo sapiens mRNA for T cell receptor alpha variable 20, partial cds, clone: un 136.																		TTGGAGTGTGCATTCATAGTC	0.413000														38			22		1.17739e-12	2.14358e-12	0.005443	1	0
MUC15	143662	broad.mit.edu	37	11	26582726	26582726	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:26582726C>T	uc001mqw.3	-	4	1245	c.972G>A	c.(970-972)ggG>ggA	p.G324G	ANO3_uc010rdr.2_Intron|ANO3_uc001mqt.4_Intron|ANO3_uc010rds.2_Intron|ANO3_uc010rdt.2_Intron|MUC15_uc001mqx.3_Silent_p.G297G|MUC15_uc001mqy.3_Silent_p.G274G	NM_001135091	NP_663625	Q8N387	MUC15_HUMAN	Homo sapiens mucin 15, cell surface associated (MUC15), transcript variant 1, mRNA.	297						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						AGCTAGAATTCCCAAAACTCA	0.383000														6			11		0	0	0.001368	0	0
CNTN5	53942	broad.mit.edu	37	11	100095439	100095439	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:100095439G>A	uc001pga.3	+	15	2404	c.1900G>A	c.(1900-1902)Gat>Aat	p.D634N	CNTN5_uc009ywv.2_Missense_Mutation_p.D634N|CNTN5_uc001pfz.3_Missense_Mutation_p.D634N|CNTN5_uc021qpb.1_Missense_Mutation_p.D634N|CNTN5_uc021qpc.1_Missense_Mutation_p.D560N|CNTN5_uc010ruk.2_Intron	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	634	Ig-like C2-type 6.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.A633T(1)		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)		ATCCTCTGCAGATTTAATGAT	0.458000														5			20		0	0	0.002299	0	0
MCTP2	55784	broad.mit.edu	37	15	95022245	95022245	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr15:95022245G>A	uc002btj.3	+	21	2684	c.2619G>A	c.(2617-2619)aaG>aaA	p.K873K	MCTP2_uc010boj.3_Silent_p.K602K|MCTP2_uc010bok.3_Silent_p.K818K|MCTP2_uc002btl.3_Silent_p.K461K	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	873					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	p.R872W(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CCCTGCGGAAGAAGCGCAGCG	0.527000														7			6		0	0	0.001984	0	0
IRAK2	3656	broad.mit.edu	37	3	10276167	10276167	+	Missense_Mutation	SNP	C	T	T	rs141630240		TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr3:10276167C>T	uc003bve.1	+	10	1373	c.1297C>T	c.(1297-1299)Cca>Tca	p.P433S		NM_001570	NP_001561	O43187	IRAK2_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 2 (IRAK2), mRNA.	433	Protein kinase.				I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						CAGTGATATTCCAAGCAGCAC	0.597000														30			19		0	0	0.003954	0	0
FAM117B	150864	broad.mit.edu	37	2	203591024	203591024	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:203591024C>T	uc010zhx.2	+	3	908	c.898C>T	c.(898-900)Cat>Tat	p.H300Y		NM_173511	NP_775782	Q6P1L5	F117B_HUMAN	Homo sapiens family with sequence similarity 117, member B (FAM117B), mRNA.	300										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						CAGTCGGCATCATCGAGATAA	0.403000														160			117		0	0	0.003610	0	0
ZNF572	137209	broad.mit.edu	37	8	125990020	125990020	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr8:125990020C>T	uc003yrr.3	+	2	1665	c.1510C>T	c.(1510-1512)Cct>Tct	p.P504S		NM_152412	NP_689625	Q7Z3I7	ZN572_HUMAN	Homo sapiens zinc finger protein 572 (ZNF572), mRNA.	504					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TGGGGATTTTCCTCATGAATG	0.463000										HNSCC(60;0.17)				43			21		0	0	0.002299	0	0
XDH	7498	broad.mit.edu	37	2	31591449	31591449	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:31591449C>T	uc002rnv.1	-	18	2137	c.2058G>A	c.(2056-2058)gtG>gtA	p.V686V		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	686					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	AGGTGATTTTCACCCCTTGGG	0.502000														33			31		0	0	0.002096	0	0
LRRC8A	56262	broad.mit.edu	37	9	131669672	131669673	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:131669672_131669673CC>TT	uc004bwl.4	+	2	483_484	c.229_230CC>TT	c.(229-231)ccg>TTg	p.P77L	LRRC8A_uc010myp.3_Missense_Mutation_p.P77L|LRRC8A_uc010myq.3_Missense_Mutation_p.P77L	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member A (LRRC8A), transcript variant 2, mRNA.	77					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						AGCCCCTGGCCCGGAGCCCACC	0.614000														30			17		0	0	0.004672	0	0
GFRA3	2676	broad.mit.edu	37	5	137589837	137589837	+	Silent	SNP	C	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:137589837C>A	uc003lcn.3	-	4	938	c.798G>T	c.(796-798)gtG>gtT	p.V266V	GFRA3_uc003lco.3_Silent_p.V235V	NM_001496	NP_001487	O60609	GFRA3_HUMAN	Homo sapiens GDNF family receptor alpha 3 (GFRA3), mRNA.	266					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding	p.V266G(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TCTGGAAATCCACCAGGCGTG	0.488000														31			13		9.16793e-09	1.65857e-08	0.004990	1	0
OR2A14	135941	broad.mit.edu	37	7	143826661	143826661	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:143826661C>T	uc011kua.2	+	0	456	c.456C>T	c.(454-456)ttC>ttT	p.F152F		NM_001001659	NP_001001659	Q96R47	O2A14_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 14 (OR2A14), mRNA.	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F152F(4)		large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					TGTTCAGCTTCCTCCTGGCTC	0.532000														78			53		0	0	0.003610	0	0
PDZD2	23037	broad.mit.edu	37	5	31983716	31983716	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:31983716C>T	uc003jhl.3	+	2	1320	c.932C>T	c.(931-933)tCa>tTa	p.S311L	PDZD2_uc003jhm.3_Missense_Mutation_p.S311L|PDZD2_uc011cnx.1_Missense_Mutation_p.S137L	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	311					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				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						CGCCGCTTCTCAAAAGGTGGG	0.473000														16			28		0	0	0.002096	0	0
MYT1L	23040	broad.mit.edu	37	2	1926472	1926472	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:1926472T>G	uc002qxe.3	-	9	1896	c.1069A>C	c.(1069-1071)Atc>Ctc	p.I357L	MYT1L_uc002qxd.3_Missense_Mutation_p.I357L|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	357					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TGCTGACGGATGTTCATGTTC	0.572000														20			8		0	0	0.003080	0	0
SDAD1	55153	broad.mit.edu	37	4	76879000	76879000	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr4:76879000G>A	uc003hje.4	-	18	1697	c.1578_splice	c.e18+1	p.I526_splice	SDAD1_uc003hjf.4_Splice_Site_p.I429_splice|SDAD1_uc011cbr.2_Splice_Site_p.I489_splice	NM_018115	NP_060585	Q9NVU7	SDA1_HUMAN	Homo sapiens SDA1 domain containing 1 (SDAD1), mRNA.	526					protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TCAGACTTACGATTTCTTGCT	0.423000														8			113		0	0	0.003610	0	0
OR2L8	391190	broad.mit.edu	37	1	248112449	248112449	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:248112449G>A	uc001idt.1	+	0	290	c.290G>A	c.(289-291)gGg>gAg	p.G97E	OR2L13_uc001ids.3_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 8 (OR2L8), mRNA.	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			ACTGGGTGTGGGATTCAGAGT	0.438000														95			8		0	0	0.000673	0	0
WNK4	65266	broad.mit.edu	37	17	40932784	40932784	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr17:40932784G>A	uc002ibj.3	+	0	136	c.68G>A	c.(67-69)cGg>cAg	p.R23Q	WNK4_uc010wgx.2_5'UTR|WNK4_uc002ibk.1_5'Flank	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA.	23					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CTGGCCCTGCGGCCCCCGCCT	0.726000														16			20		0	0	0.002299	0	0
PLEKHF1	79156	broad.mit.edu	37	19	30165196	30165196	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:30165196C>T	uc002nsi.4	+	1	803	c.705C>T	c.(703-705)atC>atT	p.I235I	PLEKHF1_uc002nsh.4_Silent_p.I150I|PLEKHF1_uc021ury.1_Silent_p.I150I	NM_024310	NP_077286	Q96S99	PKHF1_HUMAN	Homo sapiens pleckstrin homology domain containing, family F (with FYVE domain) member 1 (PLEKHF1), mRNA.	150					apoptosis	lysosome|nucleus|perinuclear region of cytoplasm	metal ion binding			breast(1)|lung(3)|ovary(1)|prostate(1)	6	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)			CACCCTGGATCCCCGACAAGG	0.697000														9			4		0	0	0.000602	0	0
NID2	22795	broad.mit.edu	37	14	52505568	52505568	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr14:52505568G>A	uc001wzo.3	-	8	2388	c.2154C>T	c.(2152-2154)ttC>ttT	p.F718F	NID2_uc010tqs.2_Silent_p.F718F|NID2_uc010tqt.1_Silent_p.F718F|NID2_uc001wzp.3_Silent_p.F718F	NM_007361	NP_031387	Q14112	NID2_HUMAN	Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA.	718	Nidogen G2 beta-barrel.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GGGTGGTGGGGAAGGACGGGT	0.527000														42			25		0	0	0.005443	0	0
KIF21B	23046	broad.mit.edu	37	1	200944676	200944676	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:200944676C>T	uc001gvs.2	-	32	4882	c.4565G>A	c.(4564-4566)cGa>cAa	p.R1522Q	KIF21B_uc009wzl.2_Missense_Mutation_p.R1522Q|KIF21B_uc001gvr.2_Missense_Mutation_p.R1509Q|KIF21B_uc010ppn.2_Missense_Mutation_p.R1509Q	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	1522					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GCCGTTATCTCGGGAGCCACT	0.597000														23			21		0	0	0.005443	0	0
MUT	4594	broad.mit.edu	37	6	49427140	49427140	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:49427140G>A	uc003ozg.4	-	1	305	c.40C>T	c.(40-42)Cat>Tat	p.H14Y		NM_000255	NP_000246	P22033	MUTA_HUMAN	Homo sapiens methylmalonyl CoA mutase (MUT), nuclear gene encoding mitochondrial protein, mRNA.	14					fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTCAGGTAATGAGGTGAAAGT	0.448000														93			15		0	0	0.006122	0	0
ODZ3	55714	broad.mit.edu	37	4	183675687	183675687	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr4:183675687G>A	uc003ivd.1	+	20	4242	c.4167G>A	c.(4165-4167)gtG>gtA	p.V1389V	ODZ3_uc003ive.1_Silent_p.V802V	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1389					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		TTCCCGGAGTGGAATATCCTG	0.493000														0			12		0	0	0.001368	0	0
ANKRD7	56311	broad.mit.edu	37	7	117865049	117865049	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:117865049G>A	uc003vji.3	+	0	338	c.165G>A	c.(163-165)caG>caA	p.Q55Q		NM_019644	NP_062618	Q92527	ANKR7_HUMAN	Homo sapiens ankyrin repeat domain 7 (ANKRD7), mRNA.	55					male gonad development					breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						TAAATATGCAGGACAAAAAAT	0.463000														54			41		0	0	0.002852	0	0
IFNA16	3449	broad.mit.edu	37	9	21217128	21217128	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:21217128G>A	uc003zor.1	-	0	183	c.177C>T	c.(175-177)ttC>ttT	p.F59F	IFNA14_uc003zoo.1_Intron	NM_002173	NP_002164	P05015	IFN16_HUMAN	Homo sapiens interferon, alpha 16 (IFNA16), mRNA.	59					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		GGGGGAATCCGAAATCATATC	0.502000														37			29		0	0	0.003271	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100801778	100801778	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr15:100801778C>T	uc002bvv.1	-	5	1016	c.937G>A	c.(937-939)Gag>Aag	p.E313K	ADAMTS17_uc002bvx.1_Missense_Mutation_p.E70K	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 17 (ADAMTS17), mRNA.	313	Peptidase M12B.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CCATACTCCTCGTTCTGCCAG	0.557000														11			11		0	0	0.000978	0	0
PTCH1	5727	broad.mit.edu	37	9	98209359	98209359	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:98209359G>A	uc004avk.4	-	22	4367	c.4179C>T	c.(4177-4179)ccC>ccT	p.P1393P	PTCH1_uc010mrn.3_Silent_p.P185P|PTCH1_uc010mro.3_Silent_p.P1242P|PTCH1_uc010mrp.3_Silent_p.P1242P|PTCH1_uc010mrq.3_Silent_p.P1242P|PTCH1_uc004avl.4_Silent_p.P1242P|PTCH1_uc004avm.4_Silent_p.P1392P|PTCH1_uc010mrr.3_Silent_p.P1327P	NM_000264	NP_001077076	Q13635	PTC1_HUMAN	Homo sapiens patched 1 (PTCH1), transcript variant 1b, mRNA.	1393					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GTCCCCCTCGGGGGTTCCGCC	0.682000														40			43		0	0	0.003214	0	0
KCNT1	57582	broad.mit.edu	37	9	138675892	138675892	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:138675892A>G	uc011mdq.2	+	24	2938	c.2864A>G	c.(2863-2865)aAc>aGc	p.N955S	KCNT1_uc011mdr.2_Missense_Mutation_p.N782S|KCNT1_uc010nbf.3_Missense_Mutation_p.N910S|KCNT1_uc004cgo.1_Missense_Mutation_p.N704S	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	955						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		AATGGCTCCAACCTGGCCTTC	0.662000														28			24		0	0	0.002780	0	0
FLNB	2317	broad.mit.edu	37	3	58107174	58107174	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr3:58107174C>T	uc003djj.2	+	19	3235	c.3070C>T	c.(3070-3072)Cct>Tct	p.P1024S	FLNB_uc010hne.2_Missense_Mutation_p.P1024S|FLNB_uc003djk.2_Missense_Mutation_p.P1024S|FLNB_uc010hnf.2_Missense_Mutation_p.P1024S|FLNB_uc003djl.2_Missense_Mutation_p.P855S|FLNB_uc003djm.2_Missense_Mutation_p.P855S	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	1024					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)		CGATGGACACCCTGTGCCCGG	0.587000														63			59		0	0	0.003610	0	0
FCGR3A	2214	broad.mit.edu	37	1	161514504	161514504	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:161514504G>A	uc001gar.3	-	3	856	c.672C>T	c.(670-672)atC>atT	p.I224I	FCGR3A_uc001gas.3_Silent_p.I223I|FCGR3A_uc001gat.4_Silent_p.I188I|FCGR3A_uc009wuh.3_Silent_p.I187I|FCGR3A_uc009wui.3_Silent_p.I188I	NM_000569	NP_001121067	P08637	FCG3A_HUMAN	Homo sapiens Fc fragment of IgG, low affinity IIIa, receptor (CD16a) (FCGR3A), transcript variant 1, mRNA.	188					immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GAGTGATGGTGATGTTCACAG	0.507000														12			11		0	0	0.004990	0	0
TAF1L	138474	broad.mit.edu	37	9	32630161	32630161	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:32630161C>T	uc003zrg.1	-	0	5507	c.5417G>A	c.(5416-5418)aGa>aAa	p.R1806K		NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	1806					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TTGTTTGGGTCTTATTCCACC	0.493000														20			15		0	0	0.004990	0	0
FASLG	356	broad.mit.edu	37	1	172633494	172633494	+	Missense_Mutation	SNP	G	A	A	rs35774809		TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:172633494G>A	uc001gis.3	+	2	572	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	FASLG_uc001git.3_Silent_p.L123L	NM_000639	NP_000630	P48023	TNFL6_HUMAN	Homo sapiens Fas ligand (TNF superfamily, member 6) (FASLG), mRNA.	139					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						TCCACCCCCTGAAAAAAAGGA	0.408000														19			19		0	0	0.001523	0	0
OR10C1	442194	broad.mit.edu	37	6	29407980	29407980	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:29407980G>A	uc011dlp.2	+	0	265	c.188G>A	c.(187-189)cGc>cAc	p.R63H	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily C, member 1 (OR10C1), mRNA.	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TTCTTCCTGCGCACCCTCTCG	0.567000														236			29		0	0	0.002096	0	0
NUTF2	10204	broad.mit.edu	37	16	67902281	67902281	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr16:67902281C>T	uc002eup.3	+	2	237	c.138C>T	c.(136-138)ttC>ttT	p.F46F	NUTF2_uc010vkf.1_Silent_p.F46F	NM_005796	NP_005787	P61970	NTF2_HUMAN	Homo sapiens nuclear transport factor 2 (NUTF2), mRNA.	46	NTF2.				protein transport	cytosol|nuclear pore	protein binding|transporter activity			kidney(1)|lung(2)|upper_aerodigestive_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00443)|Epithelial(162;0.0199)|all cancers(182;0.129)		GACAACAGTTCCAGGGGAAAG	0.542000														41			32		0	0	0.006230	0	0
ACSM2B	348158	broad.mit.edu	37	16	20554463	20554463	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr16:20554463G>A	uc002dhj.4	-	11	1613	c.1403C>T	c.(1402-1404)tCc>tTc	p.S468F	ACSM2B_uc002dhk.4_Missense_Mutation_p.S468F|ACSM2B_uc010bwf.1_Missense_Mutation_p.S468F	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	468					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TCACCCGCTGGAGTTAATGAT	0.512000														99			32		0	0	0.003271	0	0
KIF1B	23095	broad.mit.edu	37	1	10431265	10431265	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:10431265C>A	uc001aqx.4	+	44	5093	c.4891C>A	c.(4891-4893)Ccc>Acc	p.P1631T	KIF1B_uc001aqw.4_Missense_Mutation_p.P1585T|KIF1B_uc001aqy.3_Missense_Mutation_p.P1605T|KIF1B_uc001aqz.3_Missense_Mutation_p.P1631T|KIF1B_uc001ara.3_Missense_Mutation_p.P1591T|KIF1B_uc001arb.3_Missense_Mutation_p.P1617T	NM_015074	NP_055889	O60333	KIF1B_HUMAN	Homo sapiens kinesin family member 1B (KIF1B), transcript variant 1, mRNA.	1631					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CACCCTCACTCCCTCCTCCAC	0.483000														42			33		9.78485e-24	1.79745e-23	0.002836	1	0
A2ML1	144568	broad.mit.edu	37	12	8995863	8995864	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr12:8995863_8995864CC>AT	uc001quz.4	+	11	1480_1481	c.1382_1383CC>AT	c.(1381-1383)ccc>cAT	p.P461H	A2ML1_uc001qva.1_Missense_Mutation_p.P41H|A2ML1_uc010sgm.2_5'Flank	NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN	Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA.	305						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CTAAACGGCCCCTTGAAATGTG	0.559000														13			49		0	0	0.004672	0	0
UPF1	5976	broad.mit.edu	37	19	18971135	18971135	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:18971135C>T	uc002nkg.3	+	15	2496	c.2221C>T	c.(2221-2223)Cgt>Tgt	p.R741C	UPF1_uc002nkf.3_Missense_Mutation_p.R730C|UPF1_uc002nkh.3_5'UTR	NM_002911	NP_002902	Q92900	RENT1_HUMAN	Homo sapiens UPF1 regulator of nonsense transcripts homolog (yeast) (UPF1), mRNA.	741					DNA repair|DNA replication|cell cycle|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|chromatin binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CACAGCGGATCGTGTGAAGAA	0.537000														88			164		0	0	0.003610	0	0
TACC3	10460	broad.mit.edu	37	4	1730378	1730378	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr4:1730378C>T	uc003gdo.3	+	3	1404	c.1249C>T	c.(1249-1251)Ccg>Tcg	p.P417S	TACC3_uc010ibz.3_Missense_Mutation_p.P417S|TACC3_uc003gdp.3_Intron	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 3 (TACC3), mRNA.	417						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			AAACTTCATCCCGTTCGGAGG	0.622000														52			16		0	0	0.001216	0	0
OR13H1	347468	broad.mit.edu	37	X	130678393	130678393	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chrX:130678393G>A	uc011muw.2	+	0	346	c.346G>A	c.(346-348)Gct>Act	p.A116T	IGSF1_uc004ewf.2_Intron	NM_001004486	NP_001004486	Q8NG92	O13H1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily H, member 1 (OR13H1), mRNA.	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					CCTCCTACTGGCTGCCATGGC	0.522000														1			23		0	0	0.002780	0	0
MAPK13	5603	broad.mit.edu	37	6	36103816	36103816	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:36103816C>T	uc003ols.3	+	4	536	c.438C>T	c.(436-438)gtC>gtT	p.V146V	MAPK13_uc003olt.3_Non-coding_Transcript	NM_002754	NP_002745	O15264	MK13_HUMAN	Homo sapiens mitogen-activated protein kinase 13 (MAPK13), mRNA.	146	Protein kinase.				Ras protein signal transduction|cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|response to stress		ATP binding|MAP kinase activity|protein binding	p.V146I(1)		breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						CTGCTGGGGTCGTGCACAGGG	0.582000														143			39		0	0	0.002222	0	0
RP1	6101	broad.mit.edu	37	8	55537447	55537447	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr8:55537447G>A	uc003xsd.1	+	3	1153	c.1005G>A	c.(1003-1005)atG>atA	p.M335I	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	335					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.M335I(2)|p.M335L(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CAGTTGAGATGAAAGTTCGAT	0.313000														17			18		0	0	0.004990	0	0
OR7G1	125962	broad.mit.edu	37	19	9226038	9226038	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:9226038G>A	uc021uoi.1	-	0	402	c.402C>T	c.(400-402)gtC>gtT	p.V134V	OR7G1_uc002mks.1_Silent_p.V134V	NM_001005192	NP_001005192	Q8NGA0	OR7G1_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 1 (OR7G1), mRNA.	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						CATTCATGAGGACTGTGTACC	0.493000														108			43		0	0	0.003214	0	0
LEPREL1	55214	broad.mit.edu	37	3	189692384	189692384	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr3:189692384G>A	uc011bsk.2	-	8	1803	c.1415C>T	c.(1414-1416)tCg>tTg	p.S472L	LEPREL1_uc003fsg.3_Missense_Mutation_p.S291L	NM_018192	NP_001127890	Q8IVL5	P3H2_HUMAN	Homo sapiens leprecan-like 1 (LEPREL1), transcript variant 1, mRNA.	472					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)	CTGTTCTTCCGACAGGACGTT	0.572000														21			25		0	0	0.004656	0	0
MAGEE1	57692	broad.mit.edu	37	X	75650688	75650688	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chrX:75650688C>T	uc004ecm.2	+	0	2643	c.2365C>T	c.(2365-2367)Cgt>Tgt	p.R789C		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	Homo sapiens melanoma antigen family E, 1 (MAGEE1), mRNA.	789	Interaction with DTNA (By similarity).|MAGE 2.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		p.R789C(3)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CCTCCTGAATCGTGCTGCCCG	0.473000														10			45		0	0	0.003610	0	0
COL24A1	255631	broad.mit.edu	37	1	86557978	86557978	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:86557978G>A	uc001dlj.3	-	5	1700	c.1625C>T	c.(1624-1626)tCc>tTc	p.S542F	COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_5'UTR|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript|COL24A1_uc009wcq.3_Missense_Mutation_p.S542F	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	542	Collagen-like 1.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTGACCTGGGGAAAATCCTGG	0.303000														54			41		0	0	0.003610	0	0
SGCD	6444	broad.mit.edu	37	5	155771593	155771593	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:155771593G>A	uc003lwc.4	+	2	617	c.98G>A	c.(97-99)cGa>cAa	p.R33Q	SGCD_uc003lwa.1_Missense_Mutation_p.R33Q|SGCD_uc003lwb.3_Missense_Mutation_p.R33Q|SGCD_uc003lwd.4_Missense_Mutation_p.R32Q	NM_000337	NP_001121681	Q92629	SGCD_HUMAN	Homo sapiens sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) (SGCD), transcript variant 1, mRNA.	32					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGGCGGAAACGATGCCTGTAT	0.483000														55			99		0	0	0.003610	0	0
IGFBP7	3490	broad.mit.edu	37	4	57976074	57976074	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr4:57976074G>A	uc003hcn.3	-	0	478	c.444C>T	c.(442-444)atC>atT	p.I148I	IGFBP7_uc011cag.2_Silent_p.I148I|LOC255130_uc003hco.3_Non-coding_Transcript	NM_001553	NP_001544	Q16270	IBP7_HUMAN	Homo sapiens insulin-like growth factor binding protein 7 (IGFBP7), transcript variant 1, mRNA.	148	Kazal-like.				cell adhesion|negative regulation of cell proliferation|regulation of cell growth	extracellular space	insulin-like growth factor binding			central_nervous_system(1)|endometrium(1)|lung(3)	5	Glioma(25;0.08)|all_neural(26;0.181)				Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGACCTGGGTGATGGCCTTCT	0.736000														0			5		0	0	0.001168	0	0
IFI6	2537	broad.mit.edu	37	1	27992928	27992928	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:27992928G>A	uc001bon.1	-	4	504	c.381C>T	c.(379-381)acC>acT	p.T127T	IFI6_uc001boo.1_Silent_p.T119T|IFI6_uc001bop.1_Silent_p.T123T	NM_022873	NP_075011	P09912	IFI6_HUMAN	Homo sapiens interferon, alpha-inducible protein 6 (IFI6), transcript variant 3, mRNA.	119					anti-apoptosis|negative regulation of caspase activity|negative regulation of mitochondrial depolarization|release of cytochrome c from mitochondria|type I interferon-mediated signaling pathway	integral to membrane|mitochondrion	protein binding			lung(1)|ovary(1)	2		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;7.75e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GATACTTGTGGGTGGCGTAGC	0.527000														31			38		0	0	0.007835	0	0
PCLO	27445	broad.mit.edu	37	7	82584306	82584306	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:82584306C>T	uc003uhx.2	-	4	6252	c.5963G>A	c.(5962-5964)gGa>gAa	p.G1988E	PCLO_uc003uhv.2_Missense_Mutation_p.G1988E	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1919					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						TTGCTCTCTTCCTTTCTGCTG	0.353000														28			16		0	0	0.004990	0	0
PTPRT	11122	broad.mit.edu	37	20	40944413	40944413	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr20:40944413G>A	uc002xkg.3	-	11	2273	c.2089C>T	c.(2089-2091)Ccc>Tcc	p.P697S	PTPRT_uc010ggj.3_Missense_Mutation_p.P697S	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	697	Fibronectin type-III 4.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CTTTTCAGGGGAGAGAGAGGA	0.493000														30			41		0	0	0.001951	0	0
WFDC12	128488	broad.mit.edu	37	20	43752535	43752535	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr20:43752535C>T	uc002xnf.1	-	2	306	c.288G>A	c.(286-288)tgG>tgA	p.W96*		NM_080869	NP_543145	Q8WWY7	WFD12_HUMAN	Homo sapiens WAP four-disulfide core domain 12 (WFDC12), mRNA.	96					defense response to bacterium	extracellular region	serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6		Myeloproliferative disorder(115;0.0122)				acttggcctcccatcctggct	0.562000														7			9		0	0	0.004482	0	0
FLG	2312	broad.mit.edu	37	1	152277508	152277508	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:152277508C>T	uc001ezu.1	-	2	9890	c.9854G>A	c.(9853-9855)gGa>gAa	p.G3285E		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3285	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCAGCCTGTCCACCAGAGGA	0.587000									Ichthyosis					153			108		0	0	0.003610	0	0
CARD11	84433	broad.mit.edu	37	7	2946452	2946452	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:2946452C>T	uc003smv.3	-	24	3619	c.3285G>A	c.(3283-3285)acG>acA	p.T1095T		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	1095	Guanylate kinase-like.				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	p.R1094H(1)		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)		ACTCCTCCTCCGTCTCAGGTC	0.682000			Mis		DLBCL									10			22		0	0	0.003954	0	0
UMOD	7369	broad.mit.edu	37	16	20357650	20357650	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr16:20357650G>A	uc002dhb.3	-	5	1208	c.1079C>T	c.(1078-1080)tCc>tTc	p.S360F	UMOD_uc002dgz.3_Missense_Mutation_p.S327F|UMOD_uc002dha.3_Missense_Mutation_p.S327F	NM_003361	NP_003352	P07911	UROM_HUMAN	Homo sapiens uromodulin (UMOD), transcript variant 1, mRNA.	327	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CTCCAGGAGGGAGATATCTGA	0.582000														36			40		0	0	0.002522	0	0
PI4K2B	55300	broad.mit.edu	37	4	25270159	25270159	+	Silent	SNP	T	C	C			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr4:25270159T>C	uc003grk.2	+	7	1306	c.1173T>C	c.(1171-1173)ttT>ttC	p.F391F	PI4K2B_uc011bxs.2_Silent_p.F295F	NM_018323	NP_060793	Q8TCG2	P4K2B_HUMAN	Homo sapiens phosphatidylinositol 4-kinase type 2 beta (PI4K2B), mRNA.	391	PI3K/PI4K.					cytoplasm|membrane	1-phosphatidylinositol 4-kinase activity|ATP binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				ACATGAACTTTGTGCAAGATT	0.313000														2			19		0	0	0.001216	0	0
ITLN2	142683	broad.mit.edu	37	1	160917755	160917755	+	Silent	SNP	A	G	G			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:160917755A>G	uc001fxd.3	-	6	847	c.789T>C	c.(787-789)tgT>tgC	p.C263C	ITLN2_uc009wts.3_Silent_p.C262C|ITLN2_uc010pju.2_Silent_p.C180C	NM_080878	NP_543154	Q8WWU7	ITLN2_HUMAN	Homo sapiens intelectin 2 (ITLN2), mRNA.	263	Fibrinogen C-terminal.				signal transduction	extracellular region	receptor binding|sugar binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TTATCCCAGCACAAAGGGCGT	0.453000														34			15		0	0	0.006122	0	0
OTC	5009	broad.mit.edu	37	X	38240680	38240680	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chrX:38240680C>T	uc004def.4	+	3	598	c.384C>T	c.(382-384)gcC>gcT	p.A128A		NM_000531	NP_000522	P00480	OTC_HUMAN	Homo sapiens ornithine carbamoyltransferase (OTC), nuclear gene encoding mitochondrial protein, mRNA.	128					arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	CGGACACGGCCCGGTTTGTAA	0.348000														1			20		0	0	0.007413	0	0
NLRP12	91662	broad.mit.edu	37	19	54299280	54299280	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:54299280C>T	uc002qcj.4	-	8	3154	c.2934G>A	c.(2932-2934)ctG>ctA	p.L978L	NLRP12_uc010eqw.3_Silent_p.L203L|NLRP12_uc002qch.4_Silent_p.L977L|NLRP12_uc002qci.4_Silent_p.L920L|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Intron	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	977					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)		CACAGCTATCCAGCCTGGTGA	0.527000														27			24		0	0	0.004656	0	0
ROS1	6098	broad.mit.edu	37	6	117609790	117609790	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:117609790C>T	uc003pxp.1	-	42	7108	c.6909G>A	c.(6907-6909)agG>agA	p.R2303R	ROS1_uc011ebi.1_Non-coding_Transcript	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	2303					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TCTCTTCTTTCCTCAGACCAC	0.468000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									12			12		0	0	0.002450	0	0
C6	729	broad.mit.edu	37	5	41181619	41181619	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:41181619C>T	uc003jmk.2	-	6	979	c.769G>A	c.(769-771)Gat>Aat	p.D257N	C6_uc003jml.1_Missense_Mutation_p.D257N	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	257	MACPF.				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)				GAAGTTAAATCCTTGTAGAAA	0.363000														7			5		0	0	0.001168	0	0
ARPP21	10777	broad.mit.edu	37	7	38305114	38305114	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:38305114C>T	uc003tge.1	-	4	970	c.593G>A	c.(592-594)gGa>gAa	p.G198E	ARPP21_uc022aby.1_5'UTR|ARPP21_uc003tfv.3_Intron|ARPP21_uc022abz.1_Intron|ARPP21_uc003tfz.1_Intron|ARPP21_uc003tgb.2_5'UTR|ARPP21_uc003tgc.1_5'UTR|ARPP21_uc003tgd.1_5'UTR|ARPP21_uc010kxi.1_Non-coding_Transcript|ARPP21_uc003tgf.1_Non-coding_Transcript|ARPP21_uc003tgj.1_Non-coding_Transcript|ARPP21_uc003tgg.1_Non-coding_Transcript|ARPP21_uc003tgh.1_Non-coding_Transcript|ARPP21_uc003tgi.1_Non-coding_Transcript			Q9UBL0	ARP21_HUMAN	Homo sapiens TCR gamma alternate reading frame protein (TARP), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	706	R3H.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CTCCTGGGATCCCAGAATCGT	0.418000														37			32		0	0	0.003755	0	0
DEFA4	1669	broad.mit.edu	37	8	6794277	6794277	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr8:6794277C>T	uc003wqu.1	-	1	196	c.145G>A	c.(145-147)Gat>Aat	p.D49N		NM_001925	NP_001916	P12838	DEF4_HUMAN	Homo sapiens defensin, alpha 4, corticostatin (DEFA4), mRNA.	49					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		GAGCTTTTATCCCATGCAAAG	0.547000														57			18		0	0	0.001523	0	0
COL19A1	1310	broad.mit.edu	37	6	70745815	70745815	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:70745815G>A	uc003pfc.1	+	13	1271	c.1154G>A	c.(1153-1155)gGa>gAa	p.G385E	COL19A1_uc010kam.2_Missense_Mutation_p.G281E	NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	385	Triple-helical region 2 (COL2).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GGACCCCCAGGACCACCAGCC	0.328000														17			21		0	0	0.002780	0	0
NLRP5	126206	broad.mit.edu	37	19	56539737	56539737	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:56539737C>T	uc002qmj.3	+	6	2138	c.2138C>T	c.(2137-2139)cCg>cTg	p.P713L	NLRP5_uc002qmi.3_Missense_Mutation_p.P694L	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	713						mitochondrion|nucleolus	ATP binding	p.L712V(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GTGTGGCTTCCGATTAACCAG	0.493000														130			83		0	0	0.003610	0	0
GNAZ	2781	broad.mit.edu	37	22	23465354	23465355	+	Silent	DNP	CC	TT	TT			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr22:23465354_23465355CC>TT	uc002zwu.1	+	2	1341_1342	c.804_805CC>TT	c.(802-807)ttcctg>ttTTtg	p.268_269FL>FL	RTDR1_uc002zwt.3_Intron	NM_002073	NP_002064	P19086	GNAZ_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha z polypeptide (GNAZ), mRNA.	268						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		TCATCCTCTTCCTGAACAAGAA	0.550000														5			35		0	0	0.004672	0	0
PDE6D	5147	broad.mit.edu	37	2	232603828	232603828	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:232603828G>A	uc002vse.1	-	1	271	c.121C>T	c.(121-123)Cct>Tct	p.P41S		NM_002601	NP_002592	O43924	PDE6D_HUMAN	Homo sapiens phosphodiesterase 6D, cGMP-specific, rod, delta (PDE6D), mRNA.	41					regulation of GTP catabolic process|response to stimulus|visual perception		3',5'-cyclic-nucleotide phosphodiesterase activity|GTPase inhibitor activity|protein binding			endometrium(1)|large_intestine(1)|lung(2)|skin(1)	5		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.142)		Epithelial(121;2.19e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00145)|LUSC - Lung squamous cell carcinoma(224;0.0125)|Lung(119;0.0154)		TCCACACCAGGGACAGACAGG	0.453000														55			56		0	0	0.003610	0	0
KBTBD12	166348	broad.mit.edu	37	3	127642655	127642655	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr3:127642655C>T	uc010hsr.3	+	0	754	c.751C>T	c.(751-753)Caa>Taa	p.Q251*	KBTBD12_uc003ejy.4_Intron|KBTBD12_uc010hsq.3_Intron|KBTBD12_uc003eka.4_Intron|KBTBD12_uc003ejz.2_Nonsense_Mutation_p.Q251*	NM_207335	NP_997218	Q3ZCT8	KBTBC_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 12 (KBTBD12), mRNA.	251										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						TGACATAATTCAAAATGCATT	0.408000														43			29		0	0	0.002445	0	0
LEO1	123169	broad.mit.edu	37	15	52258202	52258202	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr15:52258202C>T	uc002abo.3	-	1	574	c.558G>A	c.(556-558)caG>caA	p.Q186Q	LEO1_uc010bfd.3_Silent_p.Q186Q	NM_138792	NP_620147	Q8WVC0	LEO1_HUMAN	Homo sapiens Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (LEO1), mRNA.	186	Asp-rich.				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		CATCTGTGTTCTGCATTTTCT	0.438000														157			97		0	0	0.003610	0	0
NPY1R	4886	broad.mit.edu	37	4	164246466	164246466	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr4:164246466C>T	uc003iqm.2	-	2	1609	c.1144G>A	c.(1144-1146)Gaa>Aaa	p.E382K	NPY1R_uc021xtv.1_3'UTR|NPY1R_uc011cjj.2_Missense_Mutation_p.E139K	NM_000909	NP_000900	P25929	NPY1R_HUMAN	Homo sapiens neuropeptide Y receptor Y1 (NPY1R), mRNA.	382					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CAGATTTTTTCATTATCATCA	0.378000														7			31		0	0	0.002445	0	0
SPRY1	10252	broad.mit.edu	37	4	124323209	124323209	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr4:124323209C>T	uc003ifa.3	+	1	650	c.463C>T	c.(463-465)Cgg>Tgg	p.R155W	SPRY1_uc003ifb.3_Missense_Mutation_p.R155W|SPRY1_uc021xro.1_Missense_Mutation_p.R155W	NM_199327	NP_955359	O43609	SPY1_HUMAN	Homo sapiens sprouty homolog 1, antagonist of FGF signaling (Drosophila) (SPRY1), transcript variant 2, mRNA.	155					epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|lamellipodium|plasma membrane				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						AAGGGCAATCCGGACCCAGCC	0.522000														2			18		0	0	0.007413	0	0
MATN3	4148	broad.mit.edu	37	2	20205629	20205629	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:20205629C>T	uc002rdl.3	-	1	729	c.666G>A	c.(664-666)gtG>gtA	p.V222V	MATN3_uc010exu.1_Silent_p.V222V	NM_002381	NP_002372	O15232	MATN3_HUMAN	Homo sapiens matrilin 3 (MATN3), mRNA.	222	VWFA.				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGCCCGGTCCACGCCCACAG	0.567000														6			7		0	0	0.001984	0	0
PCNXL2	80003	broad.mit.edu	37	1	233134019	233134019	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:233134019G>A	uc001hvl.2	-	31	6004	c.5769C>T	c.(5767-5769)tcC>tcT	p.S1923S	PCNXL2_uc001hvk.1_Silent_p.S575S|PCNXL2_uc001hvm.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1923						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TCCCTTCACAGGATGACACCC	0.587000														11			11		0	0	0.000673	0	0
MYH3	4621	broad.mit.edu	37	17	10542614	10542614	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr17:10542614C>T	uc002gmq.2	-	24	3190	c.3102_splice	c.e24+1	p.D1034_splice		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	1034					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TATTTACTTACGTCTTCCACT	0.483000														33			29		0	0	0.006320	0	0
ITGB4	3691	broad.mit.edu	37	17	73745123	73745123	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr17:73745123C>T	uc002jpg.3	+	26	3500	c.3313C>T	c.(3313-3315)Cca>Tca	p.P1105S	ITGB4_uc002jph.3_Missense_Mutation_p.P1105S|ITGB4_uc002jpi.4_Missense_Mutation_p.P1105S|ITGB4_uc002jpj.3_Missense_Mutation_p.P1105S	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	1105					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CATCAGGGACCCAGGTAGGCA	0.617000														16			12		0	0	0.001368	0	0
NTNG1	22854	broad.mit.edu	37	1	107867473	107867473	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:107867473G>A	uc001dvh.4	+	2	1534	c.816G>A	c.(814-816)ggG>ggA	p.G272G	NTNG1_uc001dvc.4_Silent_p.G272G|NTNG1_uc010out.2_Silent_p.G272G|NTNG1_uc001dvf.4_Silent_p.G272G|NTNG1_uc001dvd.1_Silent_p.G272G	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	Homo sapiens netrin G1 (NTNG1), transcript variant 1, mRNA.	272	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding	p.V271I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		CAGCCGTTGGGGAAATATTTG	0.453000														8			7		0	0	0.001984	0	0
GRID2	2895	broad.mit.edu	37	4	94137945	94137945	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr4:94137945G>A	uc011cdt.2	+	5	1104	c.846G>A	c.(844-846)acG>acA	p.T282T	GRID2_uc010ikx.3_Silent_p.T282T|GRID2_uc011cdu.2_Silent_p.T187T|GRID2_uc010ikz.1_5'UTR	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	282					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GAAGGTTAACGATTATTCGGC	0.398000														1			4		0	0	0.000602	0	0
ATP8B4	79895	broad.mit.edu	37	15	50168577	50168577	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr15:50168577C>T	uc001zxu.3	-	24	3067	c.2925G>A	c.(2923-2925)ggG>ggA	p.G975G	ATP8B4_uc010ber.3_Silent_p.G848G|ATP8B4_uc010ufd.2_Silent_p.G785G|ATP8B4_uc010ufe.2_Non-coding_Transcript|ATP8B4_uc001zxt.3_5'UTR	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	975					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TGTAAAAGGCCCCATAGGGGA	0.448000														2			8		0	0	0.003080	0	0
NISCH	11188	broad.mit.edu	37	3	52525525	52525525	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr3:52525525C>T	uc003ded.4	+	19	4034	c.3900C>T	c.(3898-3900)acC>acT	p.T1300T	NISCH_uc003dee.4_Silent_p.T789T|NISCH_uc003deg.1_Non-coding_Transcript	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	Homo sapiens nischarin (NISCH), mRNA.	1300					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		GGAACAAGACCACAGGTACCC	0.612000														12			15		0	0	0.004007	0	0
NR5A2	2494	broad.mit.edu	37	1	200143285	200143285	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:200143285G>A	uc001gvb.3	+	7	1779	c.1573G>A	c.(1573-1575)Gat>Aat	p.D525N	NR5A2_uc001gvc.3_Missense_Mutation_p.D479N|NR5A2_uc009wzh.3_Missense_Mutation_p.D485N|NR5A2_uc010pph.2_Missense_Mutation_p.D453N	NM_205860	NP_995582	O00482	NR5A2_HUMAN	Homo sapiens nuclear receptor subfamily 5, group A, member 2 (NR5A2), transcript variant 1, mRNA.	525					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	p.D525N(2)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					CCTGAACGGGGATGTGCCCTA	0.453000														11			4		0	0	0.000248	0	0
CERKL	375298	broad.mit.edu	37	2	182403827	182403827	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:182403827G>A	uc002unx.3	-	12	1709	c.1608C>T	c.(1606-1608)gtC>gtT	p.V536V	CERKL_uc010frk.3_Non-coding_Transcript|CERKL_uc002uny.3_Silent_p.V510V|CERKL_uc010zfm.2_Silent_p.V492V|CERKL_uc002unz.3_Silent_p.V258V|CERKL_uc002uoa.3_Silent_p.V441V|CERKL_uc002uob.3_Silent_p.V258V|CERKL_uc002uoc.3_Silent_p.V397V|CERKL_uc021vth.1_Silent_p.V305V|CERKL_uc021vti.1_Silent_p.V258V|CERKL_uc021vtj.1_Silent_p.V213V|CERKL_uc021vtk.1_Silent_p.V258V|CERKL_uc021vtl.1_Silent_p.V213V|CERKL_uc021vtm.1_Silent_p.V305V|CERKL_uc002uod.2_Silent_p.V305V|CERKL_uc002unw.3_Silent_p.V106V	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	Homo sapiens ceramide kinase-like (CERKL), transcript variant 2, mRNA.	536					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	Golgi apparatus|endoplasmic reticulum|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			ACCTAATATGGACCTCTGATG	0.383000														26			10		0	0	0.001855	0	0
DNAH3	55567	broad.mit.edu	37	16	21117830	21117830	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr16:21117830C>T	uc010vbe.2	-	14	2265	c.2265G>A	c.(2263-2265)atG>atA	p.M755I	DNAH3_uc002die.2_Missense_Mutation_p.M695I	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	755	Stem (By similarity).				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)		CTGCATAGTCCATCAGGAACT	0.393000														8			9		0	0	0.000673	0	0
POU6F2	11281	broad.mit.edu	37	7	39247156	39247156	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:39247156C>T	uc003thb.2	+	4	591	c.448C>T	c.(448-450)Caa>Taa	p.Q150*	POU6F2_uc022acb.1_Nonsense_Mutation_p.Q150*|POU6F2_uc010kxo.3_Nonsense_Mutation_p.Q142*	NM_007252	NP_009183	P78424	PO6F2_HUMAN	Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 1, mRNA.	150					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CACCAACATCCAAGGGCTGGT	0.542000														18			8		0	0	0.003080	0	0
COL7A1	1294	broad.mit.edu	37	3	48628250	48628250	+	Splice_Site	SNP	C	T	T	rs2229823		TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr3:48628250C>T	uc003ctz.2	-	13	1638	c.1637_splice	c.e13-1	p.G546_splice		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	546	Fibronectin type-III 4.|Nonhelical region (NC1).				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)		CGCTCAACCCCTAAGAGAGAA	0.587000														27			13		0	0	0.001855	0	0
KRT5	3852	broad.mit.edu	37	12	52913684	52913684	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr12:52913684G>A	uc001san.3	-	0	560	c.397C>T	c.(397-399)Cct>Tct	p.P133S	KRT5_uc009zmh.3_Missense_Mutation_p.P133S	NM_000424	NP_000415	P13647	K2C5_HUMAN	Homo sapiens keratin 5 (KRT5), mRNA.	133	Gly-rich.|Head.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGGCAGACAGGAAAGCCAGGG	0.612000														26			22		0	0	0.001882	0	0
NRAS	4893	broad.mit.edu	37	1	115256528	115256528	+	Missense_Mutation	SNP	T	A	A	rs121913255		TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:115256528T>A	uc009wgu.3	-	2	437	c.183A>T	c.(181-183)caA>caT	p.Q61H		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(898)|p.Q61K(635)|p.Q61H(223)|p.Q61L(198)|p.Q61P(23)|p.Q61E(9)|p.Q61Q(6)|p.G60E(6)|p.Q61?(5)|p.Q61_E62>HK(2)|p.G60R(1)|p.G60>?(1)|p.Q61*(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)		TGTACTCTTCTTGTCCAGCTG	0.463000	Q61H(ME1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61H(RD_SOFT_TISSUE)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				104			123		0	0	0.003610	0	0
PRSS38	339501	broad.mit.edu	37	1	228033873	228033873	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:228033873C>T	uc001hrh.3	+	4	945	c.945C>T	c.(943-945)gtC>gtT	p.V315V		NM_183062	NP_898885	A1L453	PRS38_HUMAN	Homo sapiens protease, serine, 38 (PRSS38), mRNA.	315					proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CTCTCAGCGTCCTAATGGCCA	0.572000														54			34		0	0	0.002222	0	0
RPS6	6194	broad.mit.edu	37	9	19378419	19378419	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:19378419G>A	uc003znv.1	-	3	485	c.443C>T	c.(442-444)tCt>tTt	p.S148F	RPS6_uc003znw.1_Missense_Mutation_p.S117F	NM_001010	NP_001001	P62753	RS6_HUMAN	Homo sapiens ribosomal protein S6 (RPS6), mRNA.	148					TOR signaling cascade|endocrine pancreas development|glucose homeostasis|insulin receptor signaling pathway|positive regulation of apoptosis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding			endometrium(3)|lung(2)|ovary(1)|urinary_tract(1)	7		Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255)		Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234)		ATCTTCTTTAGAGAGATTGAA	0.428000														71			39		0	0	0.002222	0	0
OR6B3	150681	broad.mit.edu	37	2	240985329	240985329	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:240985329G>A	uc010zoe.2	-	0	161	c.161C>T	c.(160-162)tCc>tTc	p.S54F	PRR21_uc010zod.2_5'Flank	NM_173351	NP_775486	Q8NGW1	OR6B3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 3 (OR6B3), mRNA.	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		CCTGTGGAGGGAGGTGCTGCT	0.567000														76			19		0	0	0.002780	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995048	140995048	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chrX:140995048G>A	uc004fbt.3	+	3	2182	c.1858G>A	c.(1858-1860)Gaa>Aaa	p.E620K	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.E279K	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	620							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCAGGGGGAGGAATTCCAGTC	0.562000										HNSCC(15;0.026)				18			102		0	0	0.003610	0	0
VAV3	10451	broad.mit.edu	37	1	108293799	108293799	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:108293799C>T	uc001dvk.1	-	12	1253	c.1199G>A	c.(1198-1200)cGa>cAa	p.R400Q	VAV3_uc010ouw.1_Missense_Mutation_p.R400Q|VAV3_uc001dvl.1_Missense_Mutation_p.R224Q|VAV3_uc010oux.1_Missense_Mutation_p.R400Q	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	Homo sapiens vav 3 guanine nucleotide exchange factor (VAV3), transcript variant 1, mRNA.	400	PH.				B cell receptor signaling pathway|angiogenesis|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		TCCCTGAGGTCGTCCAAAAAG	0.299000														20			23		0	0	0.007291	0	0
MYOM2	9172	broad.mit.edu	37	8	2044252	2044253	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr8:2044252_2044253CC>TT	uc003wpx.4	+	17	2429_2430	c.2291_2292CC>TT	c.(2290-2292)ccc>cTT	p.P764L	MYOM2_uc011kwi.2_Missense_Mutation_p.P189L	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	764	Fibronectin type-III 4.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		AATTCCTCACCCAGCAAACCGA	0.470000														32			9		0	0	0.004672	0	0
TSPAN2	10100	broad.mit.edu	37	1	115604780	115604780	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:115604780C>T	uc001eft.3	-	2	314	c.246G>A	c.(244-246)cgG>cgA	p.R82R	TSPAN2_uc021osc.1_Silent_p.R82R	NM_005725	NP_005716	O60636	TSN2_HUMAN	Homo sapiens tetraspanin 2 (TSPAN2), mRNA.	82				AMR -> PCW (in Ref. 1; AAC69715).		integral to membrane				central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1)	10	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)		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)		ATTGCGACTCCCGCATGGCTC	0.627000														5			6		0	0	0.001984	0	0
GPN1	11321	broad.mit.edu	37	2	27851912	27851912	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:27851912G>A	uc010ymc.2	+	0	50	c.29G>A	c.(28-30)gGg>gAg	p.G10E	ZNF512_uc010yly.1_Intron|CCDC121_uc002rld.3_5'Flank|CCDC121_uc002rle.3_5'Flank|CCDC121_uc021vfe.1_5'Flank|GPN1_uc010ezf.3_Intron|GPN1_uc010yma.2_Intron|GPN1_uc010ymb.2_Intron|GPN1_uc010ymd.2_5'UTR|GPN1_uc010ezg.1_5'Flank	NM_007266	NP_001138520	Q9HCN4	GPN1_HUMAN	Homo sapiens GPN-loop GTPase 1 (GPN1), transcript variant 1, mRNA.	0						cytoplasm	GTP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|large_intestine(1)|lung(12)	14						CGGGTGGGTGGGGCCAGGAGG	0.627000														32			29		0	0	0.007291	0	0
OBSCN	84033	broad.mit.edu	37	1	228509213	228509213	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:228509213G>A	uc009xez.1	+	54	14715	c.14671G>A	c.(14671-14673)Gag>Aag	p.E4891K	OBSCN_uc001hsn.3_Missense_Mutation_p.E4891K	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	4891	IQ.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGTCCGGAAGGAGATGAAGCA	0.592000														9			9		0	0	0.004482	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43769272	43769272	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr12:43769272C>T	uc010skx.2	-	35	5356	c.5356G>A	c.(5356-5358)Gaa>Aaa	p.E1786K		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1786	GON.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TCACAGTCTTCCCTTCTACTC	0.358000														83			60		0	0	0.003610	0	0
OR2A2	442361	broad.mit.edu	37	7	143807322	143807322	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:143807322C>T	uc011ktz.2	+	0	647	c.647C>T	c.(646-648)tCc>tTc	p.S216F		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA.	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					ATTCTGGTCTCCTACATGCAC	0.537000														16			4		0	0	0.000602	0	0
mir-34	0	broad.mit.edu	37	1	9211855	9211855	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:9211855G>A	uc009vmq.3	-	1	426	c.320C>T	c.(319-321)cCc>cTc	p.P107L	mir-34_uc021ofw.1_5'Flank					Homo sapiens microRNA mir-34.																		GCATCCGGAGGGGACTCGGGG	0.557000														42			55		0	0	0.003610	0	0
CLASP1	23332	broad.mit.edu	37	2	122106150	122106150	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:122106150C>T	uc002tnc.3	-	36	4738	c.4348G>A	c.(4348-4350)Gag>Aag	p.E1450K	CLASP1_uc010yyv.2_Missense_Mutation_p.E497K|CLASP1_uc002tmz.3_Missense_Mutation_p.E536K|CLASP1_uc002tna.3_Missense_Mutation_p.E497K|CLASP1_uc010yyw.2_Non-coding_Transcript|CLASP1_uc002tnb.3_Non-coding_Transcript|CLASP1_uc010yyx.2_Non-coding_Transcript|CLASP1_uc010yyy.2_Non-coding_Transcript|CLASP1_uc010yyz.2_Missense_Mutation_p.E1391K|CLASP1_uc010yza.2_Missense_Mutation_p.E1383K|CLASP1_uc021vnl.1_Missense_Mutation_p.E1389K|CLASP1_uc010yzc.2_Non-coding_Transcript|CLASP1_uc002tmy.3_Missense_Mutation_p.E287K	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN	Homo sapiens cytoplasmic linker associated protein 1 (CLASP1), transcript variant 1, mRNA.	1451	Interaction with CLIP2 (By similarity).|Interaction with PHLDB2 and RSN.|Localization to kinetochores.				G2/M transition of mitotic cell cycle|axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	Golgi apparatus|centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|kinetochore microtubule	kinetochore binding|microtubule plus-end binding	p.V1450V(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					GCGATCCTCTCGACGACTTTG	0.602000														18			12		0	0	0.003163	0	0
ZC3HAV1L	92092	broad.mit.edu	37	7	138713621	138713621	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:138713621G>A	uc003vum.1	-	2	599	c.587C>T	c.(586-588)tCc>tTc	p.S196F		NM_080660	NP_542391	Q96H79	ZCCHL_HUMAN	Homo sapiens zinc finger CCCH-type, antiviral 1-like (ZC3HAV1L), mRNA.	196								p.S196Y(2)		NS(2)|endometrium(2)|large_intestine(1)|lung(4)|skin(1)	10						TTTCACAAAGGATTTGCACAC	0.443000														26			24		0	0	0.003954	0	0
ANK3	288	broad.mit.edu	37	10	61802497	61802497	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr10:61802497C>T	uc001jky.3	-	42	13424	c.13086G>A	c.(13084-13086)gtG>gtA	p.V4362V	ANK3_uc001jkw.3_Silent_p.V986V|ANK3_uc009xpa.3_Silent_p.V985V|ANK3_uc001jkx.3_Silent_p.V1029V|ANK3_uc010qih.2_Silent_p.V1853V|ANK3_uc001jkz.4_Silent_p.V1846V|ANK3_uc001jkv.3_Silent_p.V385V	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	4362					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						TCTTCGTTTTCACCTTAAAAC	0.423000														7			47		0	0	0.003610	0	0
OR9Q1	219956	broad.mit.edu	37	11	57947582	57947582	+	Silent	SNP	C	T	T	rs139135884	byFrequency	TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:57947582C>T	uc021qjm.1	+	0	666	c.666C>T	c.(664-666)atC>atT	p.I222I	OR9Q1_uc001nmj.3_Silent_p.I222I	NM_001005212	NP_001005212	Q8NGQ5	OR9Q1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily Q, member 1 (OR9Q1), mRNA.	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				TGTTTATCATCGTGGCCATCA	0.512000														14			10		0	0	0.006214	0	0
CDH9	1007	broad.mit.edu	37	5	26881688	26881688	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:26881688C>T	uc003jgs.1	-	11	2096	c.1927G>A	c.(1927-1929)Gaa>Aaa	p.E643K	CDH9_uc011cnv.1_Missense_Mutation_p.E236K	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	643					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ATCAGAGGTTCCTTTTTTCTT	0.398000														12			6		0	0	0.001984	0	0
CMYA5	202333	broad.mit.edu	37	5	79032186	79032186	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:79032186C>T	uc003kgc.3	+	1	7670	c.7598C>T	c.(7597-7599)tCt>tTt	p.S2533F		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	2533						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)		ATTGTTGGTTCTGAAAAGGAG	0.388000														1			3		0	0	0.004672	0	0
RBM46	166863	broad.mit.edu	37	4	155719284	155719284	+	Nonsense_Mutation	SNP	T	G	G			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr4:155719284T>G	uc003ioo.3	+	2	646	c.473T>G	c.(472-474)tTa>tGa	p.L158*	RBM46_uc011cim.1_Nonsense_Mutation_p.L158*|RBM46_uc003iop.1_Nonsense_Mutation_p.L158*	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN	Homo sapiens RNA binding motif protein 46 (RBM46), mRNA.	158	RRM 2.						RNA binding|nucleotide binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				GAAGAAATTTTAGATGAAATG	0.343000														9			33		0	0	0.003755	0	0
TRPV5	56302	broad.mit.edu	37	7	142612183	142612183	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:142612183C>T	uc003wby.1	-	10	1584	c.1320G>A	c.(1318-1320)atG>atA	p.M440I		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	440					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GCCGCATCACCATGGTCACCA	0.552000														9			7		0	0	0.001984	0	0
LRRC3	81543	broad.mit.edu	37	21	45877014	45877014	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr21:45877014G>A	uc021wjs.1	+	0	487	c.487G>A	c.(487-489)Gac>Aac	p.D163N	LRRC3_uc002zfa.3_Missense_Mutation_p.D163N	NM_030891	NP_112153	Q9BY71	LRRC3_HUMAN	Homo sapiens leucine rich repeat containing 3 (LRRC3), mRNA.	163						integral to membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		GCTGAAGCTGGACCCCGACTC	0.647000														37			19		0	0	0.001216	0	0
F13B	2165	broad.mit.edu	37	1	197032004	197032004	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:197032004G>A	uc001gtt.1	-	1	292	c.248C>T	c.(247-249)cCa>cTa	p.P83L		NM_001994	NP_001985	P05160	F13B_HUMAN	Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA.	83	Sushi 1.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						CCTTGGCTCTGGAGACCAGCC	0.383000														28			15		0	0	0.003163	0	0
SERPIND1	3053	broad.mit.edu	37	22	21138412	21138412	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr22:21138412G>A	uc002ztc.2	+	1	1129	c.1126G>A	c.(1126-1128)Gaa>Aaa	p.E376K	PI4KA_uc002zsz.4_Intron|SERPIND1_uc002ztb.1_Missense_Mutation_p.E348K	NM_000185	NP_000176	P05546	HEP2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade D (heparin cofactor), member 1 (SERPIND1), mRNA.	348					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	CCTCCAGCTGGAATACGTGGG	0.547000											OREG0026325	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		12			31		0	0	0.001512	0	0
FBXW8	26259	broad.mit.edu	37	12	117402562	117402562	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr12:117402562C>T	uc001twg.1	+	4	820	c.738C>T	c.(736-738)ttC>ttT	p.F246F	FBXW8_uc001twf.1_Silent_p.F180F	NM_153348	NP_699179	Q8N3Y1	FBXW8_HUMAN	Homo sapiens F-box and WD repeat domain containing 8 (FBXW8), transcript variant 1, mRNA.	246							protein binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		TAGCCCCCTTCCTGGAATCAG	0.512000														46			34		0	0	0.003271	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15881816	15881816	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:15881816C>T	uc010xor.1	-	3	581	c.561G>A	c.(559-561)ttG>ttA	p.L187L	CYP4F24P_uc002nbo.3_Non-coding_Transcript					Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 24, pseudogene (CYP4F24P), non-coding RNA.																		AGAAGCACATCAATGAAATCC	0.438000														37			68		0	0	0.003610	0	0
H1FNT	341567	broad.mit.edu	37	12	48723128	48723128	+	Silent	SNP	G	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr12:48723128G>T	uc001rrm.3	+	0	366	c.54G>T	c.(52-54)ggG>ggT	p.G18G		NM_181788	NP_861453	Q75WM6	H1FNT_HUMAN	Homo sapiens H1 histone family, member N, testis-specific (H1FNT), mRNA.	18					chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						GCAGAGGCGGGAGTGGGGCCA	0.652000														9			8		5.18039e-06	9.36003e-06	0.003080	1	0
OR5L2	26338	broad.mit.edu	37	11	55594865	55594865	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:55594865C>T	uc001nhy.1	+	0	171	c.171C>T	c.(169-171)acC>acT	p.T57T		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 2 (OR5L2), mRNA.	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				GGCTCCACACCCCCGTGTACT	0.468000										HNSCC(27;0.073)				30			18		0	0	0.002299	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767503	77767503	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr8:77767503G>A	uc003yau.2	+	9	8733	c.8346G>A	c.(8344-8346)gaG>gaA	p.E2782E	ZFHX4_uc003yaw.1_Silent_p.E2737E	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2737						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGGATGTAGAGAATTTAAATG	0.428000										HNSCC(33;0.089)				14			10		0	0	0.000673	0	0
CD1C	911	broad.mit.edu	37	1	158261127	158261127	+	Missense_Mutation	SNP	C	T	T	rs145638725		TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:158261127C>T	uc001fru.3	+	1	557	c.265C>T	c.(265-267)Cgt>Tgt	p.R89C	CD1C_uc021pbl.1_5'Flank	NM_001765	NP_001756	P29017	CD1C_HUMAN	Homo sapiens CD1c molecule (CD1C), mRNA.	89					T cell activation involved in immune response|antigen processing and presentation	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	p.R89C(2)		NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					GTTGTTATTTCGTTTCTACCT	0.398000														2			44		0	0	0.003610	0	0
SLC15A1	6564	broad.mit.edu	37	13	99356675	99356675	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr13:99356675C>T	uc001vno.3	-	16	1361	c.1284G>A	c.(1282-1284)atG>atA	p.M428I		NM_005073	NP_005064	P46059	S15A1_HUMAN	Homo sapiens solute carrier family 15 (oligopeptide transporter), member 1 (SLC15A1), mRNA.	428					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	CATCAAAAGTCATAAATGCAT	0.438000														18			29		0	0	0.002445	0	0
CUL3	8452	broad.mit.edu	37	2	225422555	225422555	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:225422555A>G	uc010fwy.1	-	1	156	c.103T>C	c.(103-105)Tat>Cat	p.Y35H	CUL3_uc010zls.1_Intron|CUL3_uc002vny.2_Missense_Mutation_p.Y29H	NM_003590	NP_003581	Q13618	CUL3_HUMAN	Homo sapiens cullin 3 (CUL3), mRNA.	29					G1/S transition of mitotic cell cycle|cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CTGTTTACATATTTTTCATCC	0.318000														24			18		0	0	0.007413	0	0
PPP6R3	55291	broad.mit.edu	37	11	68312380	68312380	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:68312380C>T	uc001onv.3	+	3	569	c.302C>T	c.(301-303)tCc>tTc	p.S101F	PPP6R3_uc010rqb.1_Missense_Mutation_p.S10F|PPP6R3_uc001onw.3_Missense_Mutation_p.S101F|PPP6R3_uc001ony.4_Missense_Mutation_p.S101F|PPP6R3_uc001onx.3_Missense_Mutation_p.S101F|PPP6R3_uc009ysh.3_Missense_Mutation_p.S101F|PPP6R3_uc001onu.3_Missense_Mutation_p.S101F|PPP6R3_uc010rqc.2_Missense_Mutation_p.S10F	NM_001164160	NP_001157632	Q5H9R7	PP6R3_HUMAN	Homo sapiens protein phosphatase 6, regulatory subunit 3 (PPP6R3), transcript variant 4, mRNA.	101					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GAAGATGAATCCTTGCTAATG	0.383000														34			18		0	0	0.001523	0	0
DSG4	147409	broad.mit.edu	37	18	28992934	28992934	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr18:28992934G>A	uc002kwr.2	+	14	2691	c.2556G>A	c.(2554-2556)atG>atA	p.M852I	DSG4_uc002kwq.2_Missense_Mutation_p.M833I	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	833					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.M833I(1)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AAAGCTGCATGGAAACTTTAG	0.433000														62			48		0	0	0.003610	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31146119	31146119	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:31146119G>A	uc003tca.2	+	15	1517	c.1228G>A	c.(1228-1230)Gag>Aag	p.E410K	ADCYAP1R1_uc003tcg.3_Missense_Mutation_p.E438K|ADCYAP1R1_uc003tce.2_Missense_Mutation_p.E437K|ADCYAP1R1_uc003tcb.2_Missense_Mutation_p.E389K|ADCYAP1R1_uc003tcc.2_Missense_Mutation_p.E438K	NM_001118	NP_001109	P41586	PACR_HUMAN	Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) receptor type I (ADCYAP1R1), transcript variant 3, mRNA.	410					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						GGTACAAGCGGAGATCAAGCG	0.617000														23			11		0	0	0.002450	0	0
FER1L6	654463	broad.mit.edu	37	8	125080030	125080030	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr8:125080030G>A	uc003yqw.3	+	27	3907	c.3701G>A	c.(3700-3702)gGa>gAa	p.G1234E	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1234						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AATCCCAAGGGAAAAAAAGGC	0.393000														4			3		0	0	0.000602	0	0
OR10G8	219869	broad.mit.edu	37	11	123900907	123900907	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:123900907C>T	uc001pzp.1	+	0	578	c.578C>T	c.(577-579)gCc>gTc	p.A193V		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 8 (OR10G8), mRNA.	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S192*(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GACACCTCAGCCATAGAGACT	0.507000														3			20		0	0	0.001216	0	0
ZNF318	24149	broad.mit.edu	37	6	43323708	43323708	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:43323708G>A	uc003oux.3	-	3	1442	c.1364C>T	c.(1363-1365)cCc>cTc	p.P455L	ZNF318_uc003ouw.3_Non-coding_Transcript	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Homo sapiens zinc finger protein 318 (ZNF318), mRNA.	455					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CCCAGGAAGGGGACCCCATTG	0.473000														62			40		0	0	0.007835	0	0
SLC6A5	9152	broad.mit.edu	37	11	20629177	20629177	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:20629177G>A	uc001mqd.3	+	4	1237	c.964G>A	c.(964-966)Gat>Aat	p.D322N	SLC6A5_uc009yic.3_Missense_Mutation_p.D87N	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA.	322					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	AGAATGCAAAGATAAAACCAA	0.358000														49			58		0	0	0.003610	0	0
LY75-CD302	100526664	broad.mit.edu	37	2	160741674	160741674	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:160741674C>T	uc002ubb.4	-	5	1118	c.1044G>A	c.(1042-1044)gtG>gtA	p.V348V	LY75-CD302_uc010fos.3_Silent_p.V348V|LY75-CD302_uc002ubc.4_Silent_p.V348V|LY75-CD302_uc010fot.2_Silent_p.V348V	NM_001198759	NP_001185688	O60449	LY75_HUMAN	Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA.	348					endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding										CTGTTAACTCCACTGTATTAT	0.388000														10			5		0	0	0.001168	0	0
COL15A1	1306	broad.mit.edu	37	9	101797334	101797334	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:101797334G>A	uc004azb.1	+	17	2324	c.2118G>A	c.(2116-2118)ggG>ggA	p.G706G		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	706	Triple-helical region 2 (COL2).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	p.G706G(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GACCCCCGGGGAAAAAGGGAC	0.617000														13			8		0	0	0.000673	0	0
ATP1A4	480	broad.mit.edu	37	1	160122976	160122976	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:160122976G>A	uc001fve.4	+	1	648	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	ATP1A4_uc001fvf.4_Non-coding_Transcript	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 4 polypeptide (ATP1A4), transcript variant 1, mRNA.	57					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATTAACCTTGGAAGAGCTGAG	0.552000														15			17		0	0	0.006122	0	0
YTHDF1	54915	broad.mit.edu	37	20	61834922	61834922	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr20:61834922G>A	uc002yeh.3	-	3	664	c.370C>T	c.(370-372)Cct>Tct	p.P124S	YTHDF1_uc011aaq.2_Missense_Mutation_p.P74S	NM_017798	NP_060268	Q9BYJ9	YTHD1_HUMAN	Homo sapiens YTH domain family, member 1 (YTHDF1), mRNA.	124				FP -> AR (in Ref. 4; BAB62751).						NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						GGGTTTTCAGGGAAAAAATTG	0.547000														31			32		0	0	0.001786	0	0
SHPK	23729	broad.mit.edu	37	17	3527480	3527480	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr17:3527480C>T	uc002fvz.1	-	2	459	c.356G>A	c.(355-357)cGa>cAa	p.R119Q		NM_013276	NP_037408	Q9UHJ6	SHPK_HUMAN	Homo sapiens sedoheptulokinase (SHPK), mRNA.	119					carbohydrate metabolic process	cytoplasm	ATP binding|sedoheptulokinase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				COAD - Colon adenocarcinoma(5;0.0828)		GCTAACAGCTCGGGGCTCGAA	0.562000														5			16		0	0	0.006122	0	0
LDHAL6B	92483	broad.mit.edu	37	15	59500206	59500206	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr15:59500206A>G	uc002agb.3	+	0	1165	c.1067A>G	c.(1066-1068)aAg>aGg	p.K356R	MYO1E_uc002aga.3_Intron	NM_033195	NP_149972	Q9BYZ2	LDH6B_HUMAN	Homo sapiens lactate dehydrogenase A-like 6B (LDHAL6B), mRNA.	356					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10					NADH(DB00157)	ATAAAGATAAAGCTGACCCCT	0.388000														79			38		0	0	0.002852	0	0
ANKRD45	339416	broad.mit.edu	37	1	173596225	173596225	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:173596225C>T	uc001gja.1	-	3	631	c.570G>A	c.(568-570)ggG>ggA	p.G190G		NM_198493	NP_940895	Q5TZF3	ANR45_HUMAN	Homo sapiens ankyrin repeat domain 45 (ANKRD45), mRNA.	206								p.G190E(1)		NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						TAAGGAGTTTCCCTGATCCCT	0.353000														30			26		0	0	0.001786	0	0
SH2D3A	10045	broad.mit.edu	37	19	6763740	6763740	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:6763740C>T	uc002mft.3	-	1	214	c.20G>A	c.(19-21)gGa>gAa	p.G7E	SH2D3A_uc010xjg.2_Missense_Mutation_p.E2K	NM_005490	NP_005481	Q9BRG2	SH23A_HUMAN	Homo sapiens SH2 domain containing 3A (SH2D3A), mRNA.	7					JNK cascade|small GTPase mediated signal transduction	intracellular	SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						AAGGTCTTCTCCATCCTGTGG	0.602000														93			28		0	0	0.002096	0	0
KIAA1199	57214	broad.mit.edu	37	15	81172080	81172080	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr15:81172080G>A	uc002bfw.1	+	3	525	c.265G>A	c.(265-267)Gac>Aac	p.D89N	KIAA1199_uc010unn.1_Missense_Mutation_p.D89N	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	Homo sapiens KIAA1199 (KIAA1199), mRNA.	89	G8.									breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TAAAGACCACGACGAGCCGAT	0.517000														20			12		0	0	0.002450	0	0
CHRNA2	1135	broad.mit.edu	37	8	27321465	27321465	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr8:27321465G>A	uc010lur.3	-	5	1104	c.495C>T	c.(493-495)ctC>ctT	p.L165L	CHRNA2_uc011lal.2_Silent_p.L150L|CHRNA2_uc010lus.3_Intron	NM_000742	NP_000733	Q15822	ACHA2_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 2 (neuronal) (CHRNA2), mRNA.	165						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	CCGTGGAGAAGAGGTGGGCCT	0.612000														14			15		0	0	0.004007	0	0
TC2N	123036	broad.mit.edu	37	14	92278779	92278779	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr14:92278779C>T	uc001xzu.4	-	2	369	c.178G>A	c.(178-180)Gat>Aat	p.D60N	TC2N_uc001xzt.4_Missense_Mutation_p.D60N|TC2N_uc010auc.3_Missense_Mutation_p.D60N|TC2N_uc001xzv.4_Missense_Mutation_p.D60N	NM_001128595	NP_689545	Q8N9U0	TAC2N_HUMAN	Homo sapiens tandem C2 domains, nuclear (TC2N), transcript variant 2, mRNA.	60				D -> G (in Ref. 1; BAC86538).		nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		AGCAAATAATCCTCAGTACAG	0.398000														7			6		0	0	0.001168	0	0
KIAA1109	84162	broad.mit.edu	37	4	123264571	123264571	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr4:123264571C>T	uc003ieh.3	+	70	12404	c.12359C>T	c.(12358-12360)tCg>tTg	p.S4120L	KIAA1109_uc003iem.3_Missense_Mutation_p.S476L|KIAA1109_uc003ien.3_Missense_Mutation_p.S54L	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	4120	Ser-rich.				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		p.S4120S(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GTAGGTTCATCGGGATTAGGC	0.433000														2			7		0	0	0.004482	0	0
SKIV2L2	23517	broad.mit.edu	37	5	54674184	54674184	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:54674184C>T	uc003jpy.4	+	16	2119	c.1853C>T	c.(1852-1854)cCc>cTc	p.P618L	SKIV2L2_uc011cqi.2_Missense_Mutation_p.P517L	NM_015360	NP_056175	P42285	SK2L2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like 2 (S. cerevisiae) (SKIV2L2), mRNA.	618					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				ATAGTAATTCCCAATGAAGAA	0.274000														17			18		0	0	0.001882	0	0
SPEF2	79925	broad.mit.edu	37	5	35774065	35774065	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:35774065G>A	uc003jjo.3	+	27	4131	c.4020G>A	c.(4018-4020)agG>agA	p.R1340R	SPEF2_uc003jjp.1_Silent_p.R826R|SPEF2_uc003jjr.3_5'UTR	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1340					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAATCAAAAGGAAAAATGAAC	0.388000														3			4		0	0	0.000248	0	0
MARCH1	55016	broad.mit.edu	37	4	164466772	164466772	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr4:164466772C>T	uc003iqs.2	-	6	729	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K	MARCH1_uc003iqr.2_Missense_Mutation_p.E166K	NM_001166373	NP_001159845	Q8TCQ1	MARH1_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 1 (MARCH1), transcript variant 1, mRNA.	183					antigen processing and presentation of peptide antigen via MHC class II|immune response	Golgi apparatus|cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TGCTTGATTTCCTCCGCTGTC	0.433000														4			17		0	0	0.001523	0	0
EVPL	2125	broad.mit.edu	37	17	74015720	74015720	+	Silent	SNP	G	C	C			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr17:74015720G>C	uc010wss.1	-	9	1254	c.1026C>G	c.(1024-1026)gcC>gcG	p.A342A	EVPL_uc002jqi.2_Silent_p.A342A|EVPL_uc010wst.1_5'UTR	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	342	Globular 1.				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						TGACTGAGTCGGCCTCTTCCT	0.617000														21			14		0	0	0.003163	0	0
SFI1	9814	broad.mit.edu	37	22	31927102	31927102	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr22:31927102C>T	uc003ale.3	+	3	718	c.325C>T	c.(325-327)Ccc>Tcc	p.P109S	SFI1_uc003ald.1_Intron|SFI1_uc003alf.3_Missense_Mutation_p.P109S|SFI1_uc003alg.3_Intron|SFI1_uc011alp.2_Intron|SFI1_uc011alq.2_Intron|SFI1_uc003alh.3_Intron	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN	Homo sapiens Sfi1 homolog, spindle assembly associated (yeast) (SFI1), transcript variant 1, mRNA.	109					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						AAGAGTATTTCCCTCTAAAGC	0.318000														5			33		0	0	0.003755	0	0
OR5AK2	390181	broad.mit.edu	37	11	56757116	56757116	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:56757116C>T	uc010rjp.2	+	0	728	c.728C>T	c.(727-729)tCc>tTc	p.S243F		NM_001005323	NP_001005323	Q8NH90	O5AK2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA.	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A242D(1)		breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						ACATGTGCTTCCCACCTGACC	0.418000														17			11		0	0	0.000978	0	0
TRPM6	140803	broad.mit.edu	37	9	77435218	77435218	+	Splice_Site	SNP	A	C	C			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:77435218A>C	uc004ajl.1	-	9	1372	c.1134_splice	c.e9+1	p.C378_splice	TRPM6_uc004ajk.1_Splice_Site_p.C373_splice|TRPM6_uc022bib.1_Splice_Site_p.C373_splice|TRPM6_uc010mpb.1_Splice_Site|TRPM6_uc010mpc.1_Splice_Site_p.C378_splice|TRPM6_uc010mpd.1_Splice_Site_p.C378_splice|TRPM6_uc010mpe.1_Intron	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	378					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						CGTCATACTCACACAATCCCT	0.343000														13			16		0	0	0.007413	0	0
MGAM	8972	broad.mit.edu	37	7	141752626	141752626	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:141752626G>A	uc003vwy.3	+	25	3055	c.3001G>A	c.(3001-3003)Gac>Aac	p.D1001N		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1001					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTTTGTCAACGACCTATACTC	0.443000														15			13		0	0	0.003163	0	0
C1orf129	80133	broad.mit.edu	37	1	170928613	170928613	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:170928613C>T	uc010plz.2	+	4	317	c.163C>T	c.(163-165)Ccc>Tcc	p.P55S	C1orf129_uc001ghg.3_Missense_Mutation_p.P55S|C1orf129_uc009wvy.3_5'UTR	NM_001163629	NP_001157101	Q5TGP6	CA129_HUMAN	Homo sapiens chromosome 1 open reading frame 129 (C1orf129), transcript variant 1, mRNA.	55							binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(16)|pancreas(1)|prostate(1)|skin(3)	45	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTTTGTGGATCCCTTACTGCA	0.323000														40			26		0	0	0.001786	0	0
KIAA1024	23251	broad.mit.edu	37	15	79750337	79750337	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr15:79750337C>T	uc002bew.1	+	1	1923	c.1848C>T	c.(1846-1848)gtC>gtT	p.V616V	KIAA1024_uc010unk.1_Silent_p.V616V	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	Homo sapiens KIAA1024 (KIAA1024), mRNA.	616						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TGTCGGGTGTCCGTGATGAAA	0.483000														19			21		0	0	0.001216	0	0
SLC4A2	6522	broad.mit.edu	37	7	150771142	150771143	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:150771142_150771143CC>TT	uc022apz.1	+	16	3592_3593	c.2552_2553CC>TT	c.(2551-2553)ccc>cTT	p.P851L	SLC4A2_uc003wit.4_Missense_Mutation_p.P851L|SLC4A2_uc011kve.2_Missense_Mutation_p.P842L|SLC4A2_uc003wiu.4_Missense_Mutation_p.P837L	NM_001199692	NP_001186621	P04920	B3A2_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1) (SLC4A2), transcript variant 2, mRNA.	851	Membrane (anion exchange).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGGAGCACCCCCTGCATGGCT	0.639000														38			38		0	0	0.004672	0	0
PRLR	5618	broad.mit.edu	37	5	35065992	35065992	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:35065992G>C	uc003jjm.3	-	9	1627	c.1068C>G	c.(1066-1068)agC>agG	p.S356R	PRLR_uc003jjk.1_Intron|PRLR_uc003jjg.2_Intron|PRLR_uc003jjh.2_Intron|PRLR_uc003jji.2_Intron|PRLR_uc003jjj.2_Intron|PRLR_uc003jjl.4_Missense_Mutation_p.S255R|PRLR_uc021xxl.1_Intron	NM_000949	NP_000940	P16471	PRLR_HUMAN	Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA.	356					T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AAAGGGAAGGGCTGTCACAGC	0.498000														13			16		0	0	0.004007	0	0
MUC16	94025	broad.mit.edu	37	19	9061038	9061038	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:9061038G>A	uc002mkp.3	-	2	26612	c.26408C>T	c.(26407-26409)aCc>aTc	p.T8803I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8805	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						TGTGTCCAAGGTAAAGGTACC	0.517000														29			12		0	0	0.000978	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41065530	41065530	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:41065530G>A	uc003jmj.4	-	3	754	c.264C>T	c.(262-264)ttC>ttT	p.F88F	HEATR7B2_uc021xxt.1_Silent_p.F88F	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	88							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						TCACAGAGTTGAAATCATGTG	0.408000														18			10		0	0	0.001368	0	0
STAB1	23166	broad.mit.edu	37	3	52537850	52537850	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr3:52537850C>T	uc003dej.3	+	8	1028	c.954C>T	c.(952-954)ttC>ttT	p.F318F	STAB1_uc003dei.1_Silent_p.F318F	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	318					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CGGGCTGCTTCGCCTTCTGCT	0.657000														27			27		0	0	0.002096	0	0
EPHA6	285220	broad.mit.edu	37	3	97251213	97251213	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr3:97251213G>A	uc010how.1	+	10	2255	c.2212G>A	c.(2212-2214)Gaa>Aaa	p.E738K	EPHA6_uc011bgo.1_Non-coding_Transcript|EPHA6_uc011bgp.1_Missense_Mutation_p.E104K|EPHA6_uc003drs.4_Missense_Mutation_p.E130K|EPHA6_uc003drr.4_Missense_Mutation_p.E130K|EPHA6_uc003drt.3_Missense_Mutation_p.E130K|EPHA6_uc010hox.1_Non-coding_Transcript	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	643	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TGAATTTGGAGAAGTCTGTAG	0.378000														8			6		0	0	0.003080	0	0
PNPLA7	375775	broad.mit.edu	37	9	140441761	140441761	+	Splice_Site	SNP	G	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:140441761G>T	uc010ncj.1	-	3	530	c.193_splice	c.e3+1	p.R65_splice	PNPLA7_uc004cnf.2_Splice_Site_p.R40_splice	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN	Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA.	40					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		AGATACTCACGAAATTGTCTA	0.592000														66			49		1.04682e-39	1.93041e-39	0.003610	1	0
PTPRB	5787	broad.mit.edu	37	12	71029730	71029730	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr12:71029730C>T	uc001swc.4	-	1	217	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K	PTPRB_uc001swa.4_Missense_Mutation_p.E58K|PTPRB_uc001swd.4_Missense_Mutation_p.E57K|PTPRB_uc009zrr.2_Missense_Mutation_p.E58K|PTPRB_uc001swe.3_Missense_Mutation_p.E58K	NM_001109754	NP_001103224	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 1, mRNA.	0	Fibronectin type-III 1.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGGAGCTTTTCATCCTCAGTC	0.532000														2			8		0	0	0.003080	0	0
LRRC4B	94030	broad.mit.edu	37	19	51021343	51021343	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:51021343G>A	uc002pss.3	-	2	1764	c.1627C>T	c.(1627-1629)Ccg>Tcg	p.P543S		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	Homo sapiens leucine rich repeat containing 4B (LRRC4B), mRNA.	543						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GAGGAGCGCGGGGCGGGTGCC	0.697000														19			12		0	0	0.001855	0	0
ADCY10	55811	broad.mit.edu	37	1	167798661	167798661	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:167798661C>T	uc001ger.3	-	26	3892	c.3594_splice	c.e26-1	p.G1198_splice	ADCY10_uc009wvj.3_Splice_Site|ADCY10_uc010plj.2_Splice_Site_p.G1045_splice|ADCY10_uc009wvk.3_Splice_Site_p.G1106_splice	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	1198					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						GCCTCTTCTTCCTATTGGATA	0.448000														48			20		0	0	0.003954	0	0
ANK3	288	broad.mit.edu	37	10	61932940	61932940	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr10:61932940C>T	uc001jky.3	-	18	2527	c.2189G>A	c.(2188-2190)gGa>gAa	p.G730E	ANK3_uc001jkx.3_5'Flank|ANK3_uc010qih.2_Missense_Mutation_p.G713E|ANK3_uc001jkz.4_Missense_Mutation_p.G724E|ANK3_uc001jlb.1_Missense_Mutation_p.G259E|ANK3_uc001jlc.1_Missense_Mutation_p.G391E	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	730					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						TGGTGTGTATCCCATCTGtaa	0.328000														1			14		0	0	0.002450	0	0
COL5A1	1289	broad.mit.edu	37	9	137710734	137710734	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:137710734C>T	uc004cfe.3	+	55	4761	c.4379C>T	c.(4378-4380)cCc>cTc	p.P1460L		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	1460	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCGGACGGTCCCCCCGGCCCC	0.632000														33			7		0	0	0.003080	0	0
MSLNL	401827	broad.mit.edu	37	16	830189	830190	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr16:830189_830190CC>TT	uc002cjz.1	-	2	811_812	c.811_812GG>AA	c.(811-813)ggg>AAg	p.G271K		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	Homo sapiens mesothelin-like (MSLNL), mRNA.	516					cell adhesion	integral to membrane		p.G271E(2)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						TGTGAGGGTCCCGGCGGGAGCA	0.673000														18			13		0	0	0.004672	0	0
OR2L3	391192	broad.mit.edu	37	1	248224273	248224273	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:248224273G>A	uc001idx.1	+	0	290	c.290G>A	c.(289-291)gGg>gAg	p.G97E	OR2L13_uc001ids.3_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 3 (OR2L3), mRNA.	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G97A(2)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			ACTGGGTGTGGGATTCAGAGT	0.438000														48			36		0	0	0.002522	0	0
PAPPA2	60676	broad.mit.edu	37	1	176563858	176563858	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:176563858G>A	uc001gkz.3	+	2	2282	c.1118G>A	c.(1117-1119)gGa>gAa	p.G373E	PAPPA2_uc001gky.1_Missense_Mutation_p.G373E|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	373					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ACTTACGATGGACGGCACATG	0.572000														24			24		0	0	0.003330	0	0
PRDM13	59336	broad.mit.edu	37	6	100056660	100056660	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:100056660C>T	uc003pqg.1	+	1	449	c.188C>T	c.(187-189)tCc>tTc	p.S63F		NM_021620	NP_067633	Q9H4Q3	PRD13_HUMAN	Homo sapiens PR domain containing 13 (PRDM13), mRNA.	63	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		TCGGGGGGCTCCCCTCTGGAG	0.612000														19			16		0	0	0.003163	0	0
CDH7	1005	broad.mit.edu	37	18	63477228	63477228	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr18:63477228C>T	uc002lkb.3	+	2	925	c.499C>T	c.(499-501)Ccc>Tcc	p.P167S	CDH7_uc002ljz.3_Missense_Mutation_p.P167S|CDH7_uc002lka.3_Missense_Mutation_p.P167S	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.	167	Cadherin 2.				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)				CGAAATGTCTCCCGTGGGTAA	0.403000														28			8		0	0	0.003080	0	0
KCNH1	3756	broad.mit.edu	37	1	210970979	210970979	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:210970979C>T	uc001hib.2	-	8	1956	c.1786G>A	c.(1786-1788)Gag>Aag	p.E596K	KCNH1_uc001hic.2_Missense_Mutation_p.E569K	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	596					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)		GTCTGGAACTCCATGGCCAGT	0.617000														35			30		0	0	0.002836	0	0
RP1L1	94137	broad.mit.edu	37	8	10467799	10467799	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr8:10467799G>A	uc003wtc.3	-	3	4038	c.3809C>T	c.(3808-3810)gCc>gTc	p.A1270V		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1270					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTCATTGGTGGCACAAGCGCA	0.517000														54			80		0	0	0.003610	0	0
XKR4	114786	broad.mit.edu	37	8	56436225	56436225	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr8:56436225C>T	uc003xsf.3	+	2	1424	c.1392C>T	c.(1390-1392)atC>atT	p.I464I		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA.	464						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			ATTTTGTGATCCTTTTGGAAA	0.473000														53			22		0	0	0.001523	0	0
CDHR2	54825	broad.mit.edu	37	5	176004529	176004529	+	Missense_Mutation	SNP	G	A	A	rs114930966	by1000genomes	TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:176004529G>A	uc021yie.1	+	12	1598	c.1324G>A	c.(1324-1326)Gag>Aag	p.E442K	CDHR2_uc003mem.2_Missense_Mutation_p.E442K|CDHR2_uc003men.1_Missense_Mutation_p.E442K	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	442	Cadherin 4.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GGTGGACTACGAGAGGCAGAC	0.701000														15			13		0	0	0.001368	0	0
KRT83	3889	broad.mit.edu	37	12	52711714	52711714	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr12:52711714C>T	uc001saf.2	-	2	697	c.634G>A	c.(634-636)Gag>Aag	p.E212K		NM_002282	NP_002273	P78385	KRT83_HUMAN	Homo sapiens keratin 83 (KRT83), mRNA.	212	Coil 1B.|Rod.				epidermis development	keratin filament	structural molecule activity	p.E212*(2)		NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GCCACAAACTCGTTCTCTGCT	0.562000														154			142		0	0	0.003610	0	0
BEND6	221336	broad.mit.edu	37	6	56882095	56882095	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:56882095G>A	uc010kab.3	+	4	1196	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K	BEND6_uc003pdi.4_Missense_Mutation_p.E106K	NM_152731	NP_689944	Q5SZJ8	BEND6_HUMAN	Homo sapiens BEN domain containing 6 (BEND6), mRNA.	204	BEN.									endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						TTACACAAATGAATACATGGC	0.383000														34			9		0	0	0.006214	0	0
GPR143	4935	broad.mit.edu	37	X	9714170	9714170	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chrX:9714170G>A	uc004cst.2	-	4	720	c.572C>T	c.(571-573)gCc>gTc	p.A191V		NM_000273	NP_000264	P51810	GP143_HUMAN	Homo sapiens G protein-coupled receptor 143 (GPR143), mRNA.	191					calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	Golgi apparatus|apical plasma membrane|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	L-DOPA receptor activity|dopamine binding|protein binding|tyrosine binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				GTGGGGGATGGCGTGGTCCAG	0.498000														5			36		0	0	0.004289	0	0
GEMIN4	50628	broad.mit.edu	37	17	648573	648573	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr17:648573G>A	uc002frs.1	-	1	2829	c.2710C>T	c.(2710-2712)Ccc>Tcc	p.P904S		NM_015721	NP_056536	P57678	GEMI4_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 4 (GEMIN4), mRNA.	904					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TGGGCAAAGGGCTTCAGGTTG	0.537000														2			23		0	0	0.002780	0	0
DSC3	1825	broad.mit.edu	37	18	28576969	28576969	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr18:28576969G>A	uc002kwj.4	-	14	2436	c.2281C>T	c.(2281-2283)Caa>Taa	p.Q761*	DSC3_uc002kwi.4_Nonsense_Mutation_p.Q761*	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	761					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			CAAAAACCTTGGCTAGAGTTG	0.408000														13			6		0	0	0.001984	0	0
HS6ST3	266722	broad.mit.edu	37	13	97485349	97485349	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr13:97485349G>A	uc001vmw.3	+	1	1337	c.1313G>A	c.(1312-1314)cGg>cAg	p.R438Q		NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN	Homo sapiens heparan sulfate 6-O-sulfotransferase 3 (HS6ST3), mRNA.	438						integral to membrane	sulfotransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					CGGGAGGAGCGGAGGCTGCAG	0.597000														16			8		0	0	0.004482	0	0
FAT3	120114	broad.mit.edu	37	11	92526050	92526050	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:92526050G>A	uc001pdj.4	+	7	4746	c.4729G>A	c.(4729-4731)Gaa>Aaa	p.E1577K		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1577	Cadherin 15.				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)				GTCTGTGTTTGAATCTGCTGC	0.448000										TCGA Ovarian(4;0.039)				119			56		0	0	0.003610	0	0
MYO7B	4648	broad.mit.edu	37	2	128338359	128338359	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:128338359G>A	uc002top.3	+	9	1095	c.1042G>A	c.(1042-1044)Gag>Aag	p.E348K		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	348	Myosin head-like.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		AGACGTGATGGAGACGCCCGC	0.597000														9			8		0	0	0.000978	0	0
TTN	7273	broad.mit.edu	37	2	179433620	179433620	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:179433620C>T	uc021vsy.1	-	274	69760	c.69535G>A	c.(69535-69537)Gag>Aag	p.E23179K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E16874K|TTN_uc021vta.1_Missense_Mutation_p.E16807K|TTN_uc021vtb.1_Missense_Mutation_p.E16682K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	24106	Fibronectin type-III 68.						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)			CGAGCACACTCTGACCATTTC	0.403000														20			10		0	0	0.006214	0	0
RBM46	166863	broad.mit.edu	37	4	155719287	155719287	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr4:155719287A>T	uc003ioo.3	+	2	649	c.476A>T	c.(475-477)gAt>gTt	p.D159V	RBM46_uc011cim.1_Missense_Mutation_p.D159V|RBM46_uc003iop.1_Missense_Mutation_p.D159V	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN	Homo sapiens RNA binding motif protein 46 (RBM46), mRNA.	159	RRM 2.						RNA binding|nucleotide binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				GAAATTTTAGATGAAATGAAG	0.343000														9			34		0	0	0.004289	0	0
TRPM5	29850	broad.mit.edu	37	11	2433482	2433482	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:2433482C>T	uc010qxl.2	-	16	2365	c.2356_splice	c.e16-1	p.G786_splice	TRPM5_uc001lwm.4_Splice_Site_p.G786_splice|TRPM5_uc009ydn.3_Splice_Site_p.G788_splice	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 5 (TRPM5), mRNA.	786						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		TGTGAAGAAGCCCTGGGAGGG	0.567000														104			64		0	0	0.003610	0	0
CMYA5	202333	broad.mit.edu	37	5	79034731	79034731	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:79034731G>A	uc003kgc.3	+	1	10215	c.10143G>A	c.(10141-10143)gaG>gaA	p.E3381E		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	3381						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)		CCTTCCCGGAGGAAGAATTTG	0.478000														3			9		0	0	0.006214	0	0
SMAD6	4091	broad.mit.edu	37	15	67073794	67073794	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr15:67073794G>A	uc002aqf.3	+	3	2335	c.1412G>A	c.(1411-1413)gGc>gAc	p.G471D	SMAD6_uc010bhx.3_Non-coding_Transcript|SMAD6_uc002aqg.3_Missense_Mutation_p.G210D	NM_005585	NP_005576	O43541	SMAD6_HUMAN	Homo sapiens SMAD family member 6 (SMAD6), transcript variant 1, mRNA.	471	MH2.				BMP signaling pathway|immune response|negative regulation of BMP signaling pathway|negative regulation of SMAD protein complex assembly|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	cytosol|transcription factor complex	I-SMAD binding|R-SMAD binding|co-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding	p.G471S(1)		lung(1)|skin(1)	2						TTCGCCAAGGGCTGGGGGCCC	0.706000														19			11		0	0	0.000673	0	0
MMS22L	253714	broad.mit.edu	37	6	97615961	97615961	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:97615961G>A	uc003ppb.3	-	19	3261	c.2995C>T	c.(2995-2997)Cct>Tct	p.P999S	MIR548H3_uc021zda.1_Intron|MMS22L_uc011eaf.2_Missense_Mutation_p.P959S	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN	Homo sapiens MMS22-like, DNA repair protein (MMS22L), mRNA.	999					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding			breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						AGATACAAAGGAAGACTTTTC	0.343000														15			9		0	0	0.001368	0	0
GOLGA6L1	283767	broad.mit.edu	37	15	23412198	23412198	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr15:23412198C>T	uc010uab.1	-	1	152	c.127G>A	c.(127-129)Ggc>Agc	p.G43S		NM_001001413	NP_001001413			Homo sapiens golgin A6 family-like 1 (GOLGA6L1), mRNA.											NS(1)|breast(2)|endometrium(5)|large_intestine(1)|lung(1)|skin(1)	11						GGGCTAGTGCCATTATTTATT	0.542000														42			31		0	0	0.001512	0	0
COL7A1	1294	broad.mit.edu	37	3	48631024	48631024	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr3:48631024G>A	uc003ctz.2	-	2	373	c.372C>T	c.(370-372)ctC>ctT	p.L124L		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	124	Nonhelical region (NC1).|VWFA 1.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	p.L124L(2)		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)		CAGCCACATGGAGAATTGCAG	0.602000														47			44		0	0	0.003214	0	0
SLC35F3	148641	broad.mit.edu	37	1	234367487	234367487	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:234367487G>A	uc001hvy.1	+	3	753	c.608_splice	c.e3+1	p.R203_splice	SLC35F3_uc001hwa.1_Splice_Site_p.R134_splice	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA.	134					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			CAGCGATACAGGTAGGCGCGT	0.602000														49			44		0	0	0.002852	0	0
HEATR8	374977	broad.mit.edu	37	1	55119671	55119671	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:55119671G>A	uc010ooe.1	+	2	1396	c.1072G>A	c.(1072-1074)Gat>Aat	p.D358N	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc001cxo.2_Missense_Mutation_p.D358N|HEATR8_uc010ooc.1_Intron|HEATR8_uc010ood.1_Intron|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc010oog.1_Missense_Mutation_p.D358N|HEATR8_uc010ooh.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	358						integral to membrane	binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CAGTCAGCAGGATGATGCCAA	0.567000														27			11		0	0	0.000673	0	0
B3GNT4	79369	broad.mit.edu	37	12	122691326	122691326	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr12:122691326G>A	uc001ubx.3	+	2	746	c.528G>A	c.(526-528)agG>agA	p.R176R	B3GNT4_uc001uby.3_Silent_p.R151R	NM_030765	NP_110392	Q9C0J1	B3GN4_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 (B3GNT4), mRNA.	176					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		ATGAGAGTAGGGAGTTTGATG	0.642000														27			16		0	0	0.004007	0	0
RPSAP9	653162	broad.mit.edu	37	9	79014081	79014081	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:79014081A>T	uc011lsj.1	+	0	567	c.467A>T	c.(466-468)tAt>tTt	p.Y156F						Homo sapiens ribosomal protein SA pseudogene 9 (RPSAP9), non-coding RNA.																		CCTATGCGCTATGTGGACATT	0.517000														22			20		0	0	0.001216	0	0
ANAPC4	29945	broad.mit.edu	37	4	25419869	25419869	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr4:25419869C>T	uc003gro.3	+	28	2421	c.2292C>T	c.(2290-2292)gcC>gcT	p.A764A	ANAPC4_uc003grp.3_Silent_p.A650A|ANAPC4_uc003grq.3_Silent_p.A217A	NM_013367	NP_037499	Q9UJX5	APC4_HUMAN	Homo sapiens anaphase promoting complex subunit 4 (ANAPC4), mRNA.	764					G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				AGGAGGAGGCCAGTAATAAGC	0.423000														6			29		0	0	0.002096	0	0
TRIM67	440730	broad.mit.edu	37	1	231335978	231335978	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:231335978G>A	uc009xfn.1	+	3	1390	c.1348G>A	c.(1348-1350)Gag>Aag	p.E450K		NM_001004342	NP_001004342	Q6ZTA4	TRI67_HUMAN	Homo sapiens tripartite motif containing 67 (TRIM67), mRNA.	450	COS.					cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GGTGATCAAGGAGAACGACCC	0.537000														52			46		0	0	0.003610	0	0
CDH10	1008	broad.mit.edu	37	5	24509862	24509862	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:24509862G>A	uc003jgr.2	-	6	1575	c.1069C>T	c.(1069-1071)Ccc>Tcc	p.P357S	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	357	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TAAAAACGGGGATCTACATGG	0.368000										HNSCC(23;0.051)				26			22		0	0	0.003330	0	0
TNP2	7142	broad.mit.edu	37	16	11362926	11362926	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr16:11362926G>A	uc002das.3	-	0	235	c.194C>T	c.(193-195)tCa>tTa	p.S65L	RMI2_uc002daq.1_Intron	NM_005425	NP_005416	Q05952	STP2_HUMAN	Homo sapiens transition protein 2 (during histone to protamine replacement) (TNP2), mRNA.	65					cell differentiation|multicellular organismal development|spermatogenesis	nucleosome|nucleus	DNA binding	p.0?(1)		large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						GTGGCCGGATGAGCTGTGGGC	0.622000														117			76		0	0	0.003610	0	0
SERPING1	710	broad.mit.edu	37	11	57367645	57367646	+	Nonsense_Mutation	DNP	CC	GT	GT			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:57367645_57367646CC>GT	uc001nkp.1	+	2	536_537	c.345_346CC>GT	c.(343-348)acccag>acGTag	p.Q116*	SERPING1_uc010rju.1_Nonsense_Mutation_p.Q64*|SERPING1_uc010rjv.1_Nonsense_Mutation_p.Q121*|SERPING1_uc001nkr.1_Nonsense_Mutation_p.Q116*|SERPING1_uc001nks.1_Intron	NM_000062	NP_001027466	P05155	IC1_HUMAN	Homo sapiens serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 (SERPING1), transcript variant 1, mRNA.	116	7 X 4 AA tandem repeats of [QE]-P-T-[TQ].		Missing (in HAE; type 2).		blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						attctcctacccagcccacTAC	0.559000														61			39		0	0	0.004672	0	0
TIMM50	92609	broad.mit.edu	37	19	39971436	39971436	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:39971436C>T	uc002olu.1	+	0	385	c.252C>T	c.(250-252)tcC>tcT	p.S84S	TIMM50_uc002olt.1_Non-coding_Transcript	NM_001001563	NP_001001563	Q3ZCQ8	TIM50_HUMAN	Homo sapiens translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae) (TIMM50), nuclear gene encoding mitochondrial protein, mRNA.	58					mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	RNA binding|interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GCTGTAGCTCCGGCCCGGGGC	0.711000														10			6		0	0	0.001168	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858671	9858671	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr16:9858671C>T	uc010uym.2	-	13	3040	c.2730G>A	c.(2728-2730)atG>atA	p.M910I	GRIN2A_uc002czo.4_Missense_Mutation_p.M910I|GRIN2A_uc010uyn.2_Missense_Mutation_p.M753I|GRIN2A_uc002czr.4_Missense_Mutation_p.M910I	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	910					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TTGAGGAGTTCATGTTGGACA	0.443000														28			30		0	0	0.002096	0	0
NDOR1	27158	broad.mit.edu	37	9	140109922	140109922	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:140109922C>T	uc004clx.3	+	9	1348	c.1237C>T	c.(1237-1239)Ccc>Tcc	p.P413S	NDOR1_uc004clw.3_Missense_Mutation_p.P413S|NDOR1_uc011mes.2_Missense_Mutation_p.P406S|NDOR1_uc004cly.3_Missense_Mutation_p.P379S	NM_001144026	NP_001137498	Q9UHB4	NDOR1_HUMAN	Homo sapiens NADPH dependent diflavin oxidoreductase 1 (NDOR1), transcript variant 1, mRNA.	413	FAD-binding FR-type.				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	FMN binding|NADP binding|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|protein binding			breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CCTCAAGGAGCCCCGCCGGGG	0.687000														36			29		0	0	0.005524	0	0
PRR21	643905	broad.mit.edu	37	2	240981437	240981437	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:240981437G>A	uc010zod.2	-	0	963	c.963C>T	c.(961-963)ttC>ttT	p.F321F		NM_001080835	NP_001074304	Q8WXC7	PRR21_HUMAN	Homo sapiens proline rich 21 (PRR21), mRNA.	321										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						AGGCATGGACGAAGGGCCGTG	0.597000														95			73		0	0	0.003610	0	0
KLC4	89953	broad.mit.edu	37	6	43040584	43040584	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:43040584C>T	uc003otw.1	+	12	1884	c.1565C>T	c.(1564-1566)aCg>aTg	p.T522M	KLC4_uc003otr.1_Non-coding_Transcript|KLC4_uc003otv.1_Missense_Mutation_p.T504M|KLC4_uc011dvd.1_Missense_Mutation_p.T427M|KLC4_uc003otx.1_Missense_Mutation_p.T504M|KLC4_uc003oty.1_Missense_Mutation_p.T504M|KLC4_uc003otz.1_Missense_Mutation_p.T504M	NM_201523	NP_958930	Q9NSK0	KLC4_HUMAN	Homo sapiens kinesin light chain 4 (KLC4), transcript variant 3, mRNA.	504						cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding			endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			ATCAGCCAGACGAAGGTGGCA	0.532000														154			27		0	0	0.002445	0	0
RAB11FIP3	9727	broad.mit.edu	37	16	568989	568989	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr16:568989C>T	uc002chf.3	+	9	2026	c.1687C>T	c.(1687-1689)Ccc>Tcc	p.P563S	RAB11FIP3_uc010uuf.2_Missense_Mutation_p.P267S|RAB11FIP3_uc010uug.2_Missense_Mutation_p.P298S	NM_014700	NP_055515	O75154	RFIP3_HUMAN	Homo sapiens RAB11 family interacting protein 3 (class II) (RAB11FIP3), transcript variant 1, mRNA.	563	ARF-binding domain (ABD).				cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|Rab GTPase binding|calcium ion binding|protein homodimerization activity			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				GTCCTGCACGCCCTGTCTGAA	0.612000														47			31		0	0	0.003271	0	0
GALP	85569	broad.mit.edu	37	19	56688492	56688492	+	Silent	SNP	C	T	T	rs74912591	byFrequency	TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:56688492C>T	uc002qmo.1	+	1	97	c.15C>T	c.(13-15)tcC>tcT	p.S5S	GALP_uc010eti.2_Silent_p.S5S	NM_033106	NP_149097	Q9UBC7	GALP_HUMAN	Homo sapiens galanin-like peptide (GALP), transcript variant 1, mRNA.	5					neuropeptide signaling pathway	extracellular region	hormone activity	p.P4H(1)		lung(4)	4		Colorectal(82;0.000147)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0507)		CTCCTCCCTCCGTCCCCCTGG	0.642000														8			4		0	0	0.000602	0	0
GRM7	2917	broad.mit.edu	37	3	7503366	7503366	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr3:7503366G>A	uc003bqm.2	+	6	1746	c.1472G>A	c.(1471-1473)gGt>gAt	p.G491D	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.G491D|GRM7_uc003bql.2_Missense_Mutation_p.G491D|GRM7_uc003bqn.1_Missense_Mutation_p.G74D|GRM7_uc010hch.1_5'UTR	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	491					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding	p.P490P(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	AGCAACCCGGGTTACCGTCTG	0.478000														26			28		0	0	0.002445	0	0
FRMD7	90167	broad.mit.edu	37	X	131212560	131212560	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chrX:131212560G>A	uc004ewn.3	-	11	1663	c.1485C>T	c.(1483-1485)gtC>gtT	p.V495V	FRMD7_uc022cdy.1_Silent_p.V375V|FRMD7_uc011muy.2_Silent_p.V480V	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	Homo sapiens FERM domain containing 7 (FRMD7), mRNA.	495					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					CATAAAAAAAGACCTGGGGAG	0.502000														4			20		0	0	0.007413	0	0
CCRL2	9034	broad.mit.edu	37	3	46449597	46449597	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr3:46449597G>A	uc010hjg.3	+	1	176	c.63G>A	c.(61-63)gaG>gaA	p.E21E	CCRL2_uc003cpp.4_Silent_p.E9E|CCRL2_uc010hjf.3_Silent_p.E9E|CCRL2_uc021wxc.1_Silent_p.E9E	NM_001130910	NP_003956	O00421	CCRL2_HUMAN	Homo sapiens chemokine (C-C motif) receptor-like 2 (CCRL2), transcript variant 2, mRNA.	9					chemotaxis|inflammatory response	integral to plasma membrane	CCR chemokine receptor binding|chemokine receptor activity			lung(3)|ovary(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)		TGGCACCAGAGGATGAATATG	0.522000														6			7		0	0	0.003080	0	0
OR1F1	4992	broad.mit.edu	37	16	3254666	3254666	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr16:3254666C>T	uc010uwu.2	+	0	420	c.420C>T	c.(418-420)ctC>ctT	p.L140L		NM_012360	NP_036492	O43749	OR1F1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily F, member 1 (OR1F1), mRNA.	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						CCCATCAGCTCTGTGCCCTGC	0.527000														53			36		0	0	0.005524	0	0
COL12A1	1303	broad.mit.edu	37	6	75853084	75853084	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:75853084C>T	uc021zbv.1	-	24	4746	c.4711G>A	c.(4711-4713)Gat>Aat	p.D1571N	COL12A1_uc021zbw.1_Missense_Mutation_p.D407N|COL12A1_uc003phs.3_Missense_Mutation_p.D1571N|COL12A1_uc003pht.3_Missense_Mutation_p.D407N	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	1571	Fibronectin type-III 11.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AGTTTCAGATCCTGAGGTCTG	0.428000														18			13		0	0	0.001855	0	0
ORC2	4999	broad.mit.edu	37	2	201796123	201796123	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:201796123C>T	uc002uwr.3	-	10	1127	c.856G>A	c.(856-858)Gaa>Aaa	p.E286K		NM_006190	NP_006181	Q13416	ORC2_HUMAN	Homo sapiens origin recognition complex, subunit 2 (ORC2), transcript variant 1, mRNA.	286					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|negative regulation of transcription from RNA polymerase II promoter	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						TGTTTAAGTTCGGCAGAAAAG	0.328000														28			19		0	0	0.001523	0	0
COL13A1	1305	broad.mit.edu	37	10	71640273	71640273	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr10:71640273C>T	uc001jql.3	+	5	986	c.450C>T	c.(448-450)gaC>gaT	p.D150D	COL13A1_uc021prz.1_Silent_p.D150D|COL13A1_uc021psa.1_Intron|COL13A1_uc021psb.1_Intron|COL13A1_uc001jqk.2_Silent_p.D150D|COL13A1_uc021psc.1_Silent_p.D150D|COL13A1_uc021psd.1_Silent_p.D150D|COL13A1_uc010qjf.2_Intron|COL13A1_uc021pse.1_Intron|COL13A1_uc021psf.1_Silent_p.D150D|COL13A1_uc021psg.1_Silent_p.D150D|COL13A1_uc021psh.1_Silent_p.D150D	NM_001130103	NP_001123575	Q5TAT6	CODA1_HUMAN	Homo sapiens collagen, type XIII, alpha 1 (COL13A1), transcript variant 1, mRNA.	150	Triple-helical region 1 (COL1).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	CCCCCGGAGACGCTGGGCTGT	0.612000														0			18		0	0	0.002299	0	0
CMPK2	129607	broad.mit.edu	37	2	7003698	7003698	+	Silent	SNP	A	G	G			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:7003698A>G	uc002qyo.3	-	1	796	c.687T>C	c.(685-687)ttT>ttC	p.F229F	CMPK2_uc010yis.1_Silent_p.F229F|CMPK2_uc010ewv.3_Silent_p.F229F	NM_207315	NP_997198	Q5EBM0	CMPK2_HUMAN	Homo sapiens cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial (CMPK2), nuclear gene encoding mitochondrial protein, mRNA.	229					dTDP biosynthetic process	mitochondrion	ATP binding|UMP kinase activity|cytidylate kinase activity|thymidylate kinase activity			large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTTCAGGAATAAAGGAGGTAC	0.493000														56			39		0	0	0.007835	0	0
ZNF423	23090	broad.mit.edu	37	16	49671485	49671485	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr16:49671485G>A	uc002efs.3	-	4	1876	c.1578C>T	c.(1576-1578)ttC>ttT	p.F526F	ZNF423_uc010vgn.2_Silent_p.F409F	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	Homo sapiens zinc finger protein 423 (ZNF423), mRNA.	526					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				ACTCAGTAAGGAAACCCATGG	0.592000														24			17		0	0	0.004990	0	0
COBL	23242	broad.mit.edu	37	7	51096086	51096086	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:51096086G>A	uc003tps.3	-	10	3063	c.2878C>T	c.(2878-2880)Ctg>Ttg	p.L960L	COBL_uc003tpr.4_Silent_p.L903L|COBL_uc011kcl.2_Silent_p.L903L|COBL_uc003tpp.4_Silent_p.L689L|COBL_uc003tpq.4_Silent_p.L844L|COBL_uc003tpo.4_Silent_p.L445L	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	903										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GGTGCAGCCAGCACTGGCGCC	0.577000														43			48		0	0	0.003610	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18691166	18691166	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr12:18691166C>T	uc001rdt.3	+	23	3393	c.3277C>T	c.(3277-3279)Caa>Taa	p.Q1093*	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Nonsense_Mutation_p.Q1134*|PIK3C2G_uc010sic.2_Nonsense_Mutation_p.Q912*	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	1093	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				ACAGCATTTTCAAGATTTTGT	0.398000														8			4		0	0	0.000248	0	0
GPR133	283383	broad.mit.edu	37	12	131620641	131620641	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr12:131620641G>A	uc010tbm.2	+	22	2982	c.2423G>A	c.(2422-2424)gGc>gAc	p.G808D	GPR133_uc001uit.4_Missense_Mutation_p.G776D|GPR133_uc009zyo.3_Missense_Mutation_p.G58D|GPR133_uc009zyp.3_Non-coding_Transcript	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.	776					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TGGGTCTTTGGCGTGCTTGCT	0.617000														21			17		0	0	0.002299	0	0
TUBB7P	56604	broad.mit.edu	37	4	190905463	190905463	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr4:190905463G>A	uc011clg.2	-	2	226	c.8C>T	c.(7-9)tCt>tTt	p.S3F				Q99867	TBB4Q_HUMAN	Synthetic construct DNA, clone: pF1KB7231, Homo sapiens TUBB4Q gene for tubulin, beta polypeptide 4, member Q, without stop codon, in Flexi system.	75					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity										CGAGCGCACAGAGTCCATGGT	0.692000														4			10		0	0	0.004990	0	0
NPAS1	4861	broad.mit.edu	37	19	47535945	47535945	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:47535945C>T	uc002pfw.3	+	4	673	c.477C>T	c.(475-477)ttC>ttT	p.F159F	NPAS1_uc002pfy.3_Silent_p.F159F|NPAS1_uc010xyj.2_5'Flank	NM_002517	NP_002508	Q99742	NPAS1_HUMAN	Homo sapiens neuronal PAS domain protein 1 (NPAS1), mRNA.	159	PAS 1.				central nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		AAGGAAAATTCCTCTACATCT	0.577000											OREG0025585	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		38			35		0	0	0.002222	0	0
SEC61A1	29927	broad.mit.edu	37	3	127786281	127786282	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr3:127786281_127786282CC>TT	uc003ekb.3	+	9	1177_1178	c.993_994CC>TT	c.(991-996)ggccca>ggTTca	p.P332S	RUVBL1_uc003ekf.3_Intron|SEC61A1_uc003ekc.3_Missense_Mutation_p.P279S|SEC61A1_uc003ekd.3_Missense_Mutation_p.P212S|SEC61A1_uc003ekg.3_Missense_Mutation_p.P26S	NM_013336	NP_037468	P61619	S61A1_HUMAN	Homo sapiens Sec61 alpha 1 subunit (S. cerevisiae) (SEC61A1), mRNA.	332					protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						CTTCTGGGGGCCCAGCACGTGC	0.480000														68			44		0	0	0.004672	0	0
MYO16	23026	broad.mit.edu	37	13	109318440	109318440	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr13:109318440C>T	uc010agk.2	+	1	857	c.235C>T	c.(235-237)Cac>Tac	p.H79Y	MYO16_uc001vqt.1_Missense_Mutation_p.H57Y	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	57					cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	ATP binding|actin filament binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TCCGAAAGTTCACTTCAACCT	0.458000														7			4		0	0	0.000602	0	0
OR4X2	119764	broad.mit.edu	37	11	48267238	48267238	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:48267238G>A	uc001ngs.1	+	0	583	c.583G>A	c.(583-585)Gga>Aga	p.G195R		NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 2 (OR4X2), mRNA.	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G195V(1)		breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TGTTGCCAATGGAGGCACCCT	0.498000														20			25		0	0	0.003954	0	0
FBXL7	23194	broad.mit.edu	37	5	15936881	15936881	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:15936881C>T	uc003jfn.1	+	3	1543	c.1062C>T	c.(1060-1062)taC>taT	p.Y354Y		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 7 (FBXL7), mRNA.	354					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.R353Q(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						GCCTGCGGTACCTGAGCATCG	0.667000														8			8		0	0	0.003080	0	0
NLRP1	22861	broad.mit.edu	37	17	5462329	5462329	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr17:5462329G>A	uc002gci.3	-	3	2242	c.1687C>T	c.(1687-1689)Cca>Tca	p.P563S	NLRP1_uc002gcg.1_Missense_Mutation_p.P563S|NLRP1_uc002gch.4_Missense_Mutation_p.P563S|NLRP1_uc002gck.3_Missense_Mutation_p.P563S|NLRP1_uc002gcj.3_Missense_Mutation_p.P563S|NLRP1_uc002gcl.3_Missense_Mutation_p.P563S|NLRP1_uc010clh.3_Missense_Mutation_p.P563S	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	563	NACHT.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GGTCCCAATGGCTGAGCTTGG	0.532000														11			52		0	0	0.003610	0	0
DDN	23109	broad.mit.edu	37	12	49391257	49391257	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr12:49391257G>A	uc001rsv.1	-	1	1420	c.1402C>T	c.(1402-1404)Cca>Tca	p.P468S		NM_015086	NP_055901	O94850	DEND_HUMAN	Homo sapiens dendrin (DDN), mRNA.	468	Interaction with CD2AP and NPHS1 (By similarity).					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						CGGGGGGTTGGAACATATTGG	0.632000														34			26		0	0	0.006320	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41004526	41004526	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:41004526G>A	uc003jmj.4	-	36	4606	c.4116C>T	c.(4114-4116)atC>atT	p.I1372I	HEATR7B2_uc003jmi.4_Silent_p.I927I	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1372							binding	p.I1372T(1)		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						GCAGCTCCAGGATTTTTTTTA	0.438000														8			9		0	0	0.000673	0	0
ASAP3	55616	broad.mit.edu	37	1	23767937	23767937	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:23767937C>T	uc001bha.2	-	8	901	c.777G>A	c.(775-777)caG>caA	p.Q259Q	ASAP3_uc010odz.1_Silent_p.Q128Q|ASAP3_uc010oea.1_Silent_p.Q250Q	NM_017707	NP_060177	Q8TDY4	ASAP3_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 (ASAP3), transcript variant 1, mRNA.	259					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						GGGTCAGCTTCTGTAGCTCGT	0.587000														25			12		0	0	0.002450	0	0
RABL2A	11159	broad.mit.edu	37	2	114398994	114398994	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:114398994C>T	uc002tks.4	+	7	615	c.474C>T	c.(472-474)ttC>ttT	p.F158F	RABL2A_uc002tkn.4_Silent_p.F157F|RABL2A_uc010flb.3_Silent_p.F157F|RABL2A_uc002tkm.4_Silent_p.F94F|RABL2A_uc002tkr.3_Silent_p.F158F|RABL2A_uc002tkp.4_Silent_p.F158F	NM_013412	NP_038198	Q9UBK7	RBL2A_HUMAN	Homo sapiens RAB, member of RAS oncogene family-like 2A (RABL2A), transcript variant 1, mRNA.	157					small GTPase mediated signal transduction		GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(3)	9						CCCTGTATTTCGTCTCGGCTG	0.498000														66			46		0	0	0.003610	0	0
C3P1	388503	broad.mit.edu	37	19	10157465	10157465	+	RNA	SNP	T	C	C			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:10157465T>C	uc010dwx.2	+	8		c.1299T>C								Homo sapiens complement component 3 precursor pseudogene (C3P1), non-coding RNA.											endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						GCGGACCTTGTTCCCCGAGAG	0.527000														46			101		0	0	0.003610	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94668153	94668153	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:94668153G>A	uc001dqj.4	-	10	1459	c.1090C>T	c.(1090-1092)Ctc>Ttc	p.L364F	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dql.3_Missense_Mutation_p.L364F	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	364					Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TGCTTGTTGAGATTTTTTGCT	0.383000														73			73		0	0	0.003610	0	0
NLRP1	22861	broad.mit.edu	37	17	5463016	5463016	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr17:5463016C>T	uc002gci.3	-	3	1555	c.1000G>A	c.(1000-1002)Ggg>Agg	p.G334R	NLRP1_uc002gcg.1_Missense_Mutation_p.G334R|NLRP1_uc002gch.4_Missense_Mutation_p.G334R|NLRP1_uc002gck.3_Missense_Mutation_p.G334R|NLRP1_uc002gcj.3_Missense_Mutation_p.G334R|NLRP1_uc002gcl.3_Missense_Mutation_p.G334R|NLRP1_uc010clh.3_Missense_Mutation_p.G334R	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	334	NACHT.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CCAGCAGCCCCCTGCAGTATG	0.532000														17			99		0	0	0.003610	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540241	169540241	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr3:169540241G>A	uc003fgb.3	+	0	532	c.532G>A	c.(532-534)Gaa>Aaa	p.E178K		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA.	178										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						AAACCAGTTTGAAGTTTTCCC	0.512000														41			37		0	0	0.004289	0	0
RCAN2	10231	broad.mit.edu	37	2	174047580	174047580	+	Splice_Site	SNP	A	G	G			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:174047580A>G	uc002uhz.3	+	4	448	c.248_splice	c.e4-2	p.E83_splice	RCAN2_uc002uhx.3_Splice_Site_p.E83_splice|RCAN2_uc002uhy.3_Splice_Site_p.E83_splice|RCAN2_uc010zei.2_Splice_Site	NM_016653	NP_057737	Q14206	RCAN2_HUMAN	Homo sapiens sterile alpha motif and leucine zipper containing kinase AZK (ZAK), transcript variant 1, mRNA.	0					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						CTTTTAAAATAGAATATGCTT	0.299000														14			3		0	0	0.004672	0	0
KRT10	3858	broad.mit.edu	37	17	38978704	38978704	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr17:38978704C>T	uc002hvi.3	-	0	160	c.134G>A	c.(133-135)gGa>gAa	p.G45E	TMEM99_uc021txc.1_Intron|TMEM99_uc002hvj.1_Intron|TMEM99_uc021txd.1_Intron	NM_000421	NP_000412	P13645	K1C10_HUMAN	Homo sapiens keratin 10 (KRT10), mRNA.	45	Gly-rich.|Head.				epidermis development		protein binding|structural constituent of epidermis			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				GCTAAATCCTCCACCAAGGGA	0.577000														19			14		0	0	0.001855	0	0
ADAM2	2515	broad.mit.edu	37	8	39645760	39645760	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr8:39645760G>A	uc003xnj.3	-	8	728	c.653C>T	c.(652-654)tCa>tTa	p.S218L	ADAM2_uc003xnk.3_Missense_Mutation_p.S199L|ADAM2_uc011lck.2_Missense_Mutation_p.S218L|ADAM2_uc003xnl.3_Intron	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	218	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)		AATATTAAATGAAACAAAAAT	0.239000														14			13		0	0	0.003163	0	0
CLIP4	79745	broad.mit.edu	37	2	29356568	29356568	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:29356568G>A	uc002rmv.3	+	4	654	c.415G>A	c.(415-417)Gga>Aga	p.G139R	CLIP4_uc002rmu.3_Missense_Mutation_p.G139R|CLIP4_uc010ezm.1_Missense_Mutation_p.G139R|CLIP4_uc002rmw.3_Non-coding_Transcript|CLIP4_uc010ymn.1_Missense_Mutation_p.G121R	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN	Homo sapiens CAP-GLY domain containing linker protein family, member 4 (CLIP4), mRNA.	139										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					TATTGACCTGGGAGCAGACAT	0.353000														9			6		0	0	0.001984	0	0
AMPD3	272	broad.mit.edu	37	11	10527309	10527309	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:10527309G>A	uc001min.1	+	14	2554	c.2209G>A	c.(2209-2211)Gat>Aat	p.D737N	AMPD3_uc010rbz.1_Missense_Mutation_p.D569N|AMPD3_uc009yfw.1_Non-coding_Transcript|AMPD3_uc001mio.1_Missense_Mutation_p.D728N|AMPD3_uc009yfz.2_Non-coding_Transcript|AMPD3_uc001mip.1_Missense_Mutation_p.D735N|AMPD3_uc009yfy.2_Missense_Mutation_p.D728N	NM_000480	NP_001165902	Q01432	AMPD3_HUMAN	Homo sapiens adenosine monophosphate deaminase 3 (AMPD3), transcript variant 1, mRNA.	728					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		TGAAGGAAATGATATTCGAAA	0.373000														41			29		0	0	0.001786	0	0
SLC39A5	283375	broad.mit.edu	37	12	56625305	56625305	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr12:56625305G>A	uc010sqj.2	+	3	504	c.247G>A	c.(247-249)Gga>Aga	p.G83R	SLC39A5_uc010sqi.2_5'UTR|SLC39A5_uc010sqk.2_Missense_Mutation_p.G83R	NM_173596	NP_775867	Q6ZMH5	S39A5_HUMAN	Homo sapiens solute carrier family 39 (metal ion transporter), member 5 (SLC39A5), transcript variant 1, mRNA.	83					zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity	p.R83W(1)		NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCCTCTGACTGGACGGGCTGC	0.642000														28			25		0	0	0.005443	0	0
TCR-alpha	0	broad.mit.edu	37	14	22574082	22574082	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr14:22574082G>A	uc001wdb.2	+	1	339	c.302G>A	c.(301-303)gGa>gAa	p.G101E	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					SubName: Full=cDNA FLJ59026;																		TACATCAAAGGATCCCAGCCT	0.463000														10			12		0	0	0.001368	0	0
CACNA1H	8912	broad.mit.edu	37	16	1270611	1270611	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr16:1270611C>T	uc002cks.3	+	34	6927	c.6679C>T	c.(6679-6681)Cct>Tct	p.P2227S	CACNA1H_uc002ckt.3_Missense_Mutation_p.P2221S|CACNA1H_uc002cku.3_Missense_Mutation_p.P922S|CACNA1H_uc010brj.3_Missense_Mutation_p.P938S|CACNA1H_uc002ckv.3_Missense_Mutation_p.P916S	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	2227					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TGAGGCCACGCCTCACAGGGA	0.751000														7			5		0	0	0.000602	0	0
C15orf2	23742	broad.mit.edu	37	15	24921102	24921102	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr15:24921102C>T	uc001ywo.3	+	0	562	c.88C>T	c.(88-90)Cgg>Tgg	p.R30W		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	30					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		TCCCCTGTCCCGGGACGCCTC	0.706000														9			10		0	0	0.006214	0	0
SPOCK2	9806	broad.mit.edu	37	10	73826742	73826742	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr10:73826742G>A	uc001jso.2	-	7	1291	c.846C>T	c.(844-846)atC>atT	p.I282I	ANAPC16_uc021psn.1_Intron|SPOCK2_uc001jsp.3_Silent_p.I282I	NM_001244950	NP_001231879	Q92563	TICN2_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2 (SPOCK2), transcript variant 3, mRNA.	282					extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly	proteinaceous extracellular matrix	calcium ion binding			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						AGAAGGGACGGATGCAGACCT	0.587000														10			76		0	0	0.003610	0	0
SUPT5H	6829	broad.mit.edu	37	19	39961136	39961136	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:39961136C>T	uc002olo.4	+	17	1829	c.1650C>T	c.(1648-1650)atC>atT	p.I550I	SUPT5H_uc002olp.4_Silent_p.I550I|SUPT5H_uc002olq.4_Silent_p.I546I|SUPT5H_uc002oln.4_Silent_p.I550I|SUPT5H_uc002olr.4_Silent_p.I550I|SUPT5H_uc002ols.1_Silent_p.I173I|SUPT5H_uc010egp.1_5'Flank	NM_001111020	NP_003160	O00267	SPT5H_HUMAN	Homo sapiens suppressor of Ty 5 homolog (S. cerevisiae) (SUPT5H), transcript variant 2, mRNA.	550					cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TGGGTGTCATCGTGCGACTAG	0.592000														79			74		0	0	0.003610	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20585995	20585995	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr20:20585995T>A	uc002wrz.3	-	14	2005	c.1862A>T	c.(1861-1863)gAt>gTt	p.D621V	RALGAPA2_uc002wry.3_Missense_Mutation_p.D236V|RALGAPA2_uc010zsg.2_Missense_Mutation_p.D22V	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	621					activation of Ral GTPase activity	cytosol|nucleus	Ral GTPase activator activity|protein heterodimerization activity	p.D621V(1)		endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						AAGAAAGTCATCCCAGAGCTC	0.483000														9			7		0	0	0.001984	0	0
ME3	10873	broad.mit.edu	37	11	86158109	86158109	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:86158109C>T	uc001pbz.3	-	10	1632	c.1378G>A	c.(1378-1380)Gag>Aag	p.E460K	ME3_uc001pca.3_Missense_Mutation_p.E460K|ME3_uc009yvk.3_Missense_Mutation_p.E460K	NM_001014811	NP_001155058	Q16798	MAON_HUMAN	Homo sapiens malic enzyme 3, NADP(+)-dependent, mitochondrial (ME3), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	460					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	NAD binding|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding	p.E460K(2)		endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	CCGCTGACCTCGGTGACCCGG	0.562000														20			9		0	0	0.000978	0	0
CDH26	60437	broad.mit.edu	37	20	58559806	58559806	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr20:58559806C>T	uc002ybe.3	+	5	965	c.654C>T	c.(652-654)ttC>ttT	p.F218F	CDH26_uc010zzy.2_Non-coding_Transcript	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	Homo sapiens cadherin 26 (CDH26), transcript variant a, mRNA.	218	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			AAAGTGGTTTCCGGGTTGATC	0.373000														75			49		0	0	0.003610	0	0
ZAN	7455	broad.mit.edu	37	7	100352875	100352875	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:100352875G>A	uc003uwj.3	+	14	3316	c.3151G>A	c.(3151-3153)Gaa>Aaa	p.E1051K	ZAN_uc003uwk.3_Missense_Mutation_p.E1051K|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	1051	TIL 1.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.Y1050Y(1)		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)			TGCCCGCTACGAATCCTGTGC	0.567000														129			94		0	0	0.003610	0	0
PM20D1	148811	broad.mit.edu	37	1	205813963	205813963	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:205813963G>A	uc001hdj.3	-	3	628	c.552C>T	c.(550-552)ttC>ttT	p.F184F	PM20D1_uc009xbr.3_Non-coding_Transcript	NM_152491	NP_689704	Q6GTS8	P20D1_HUMAN	Homo sapiens peptidase M20 domain containing 1 (PM20D1), mRNA.	184						extracellular region	metal ion binding|peptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			CCAGAGAAATGAAGAAAGATC	0.512000														24			27		0	0	0.002445	0	0
MCF2	4168	broad.mit.edu	37	X	138729049	138729049	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chrX:138729049C>T	uc011mwn.1	-	2	300	c.294G>A	c.(292-294)aaG>aaA	p.K98K	MCF2_uc011mwo.1_Silent_p.K13K|MCF2_uc004faw.2_Silent_p.K13K	NM_001171878	NP_001165349	P10911	MCF2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence (MCF2), transcript variant 5, mRNA.	0					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	Rho guanyl-nucleotide exchange factor activity|protein binding			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					AAGCATTGTCCTTTCCCCGGC	0.328000														1			8		0	0	0.003080	0	0
SATB2	23314	broad.mit.edu	37	2	200213592	200213592	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:200213592G>A	uc002uuy.2	-	6	1822	c.1005C>T	c.(1003-1005)atC>atT	p.I335I	SATB2_uc010fsq.2_Silent_p.I217I|SATB2_uc002uva.2_Silent_p.I335I|SATB2_uc002uuz.2_Silent_p.I335I|SATB2_uc002uvb.1_Silent_p.I78I	NM_001172509	NP_056080	Q9UPW6	SATB2_HUMAN	Homo sapiens SATB homeobox 2 (SATB2), transcript variant 1, mRNA.	335						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	p.I335T(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						ACTGCTGGTTGATGGCTTGAG	0.512000														18			12		0	0	0.001368	0	0
FAM75D1	389763	broad.mit.edu	37	9	84608932	84608932	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:84608932G>A	uc004amn.3	+	3	3594	c.3547G>A	c.(3547-3549)Gaa>Aaa	p.E1183K		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	1183						integral to membrane				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						CAATGAAACTGAAATTTTCCC	0.403000														16			15		0	0	0.002450	0	0
CCL25	6370	broad.mit.edu	37	19	8121277	8121277	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:8121277G>A	uc002mjd.3	+	3	330	c.219G>A	c.(217-219)aaG>aaA	p.K73K	CCL25_uc002mjc.4_Silent_p.K73K|CCL25_uc010dvy.1_Intron	NM_005624	NP_005615	O15444	CCL25_HUMAN	Homo sapiens chemokine (C-C motif) ligand 25 (CCL25), transcript variant 1, mRNA.	73					G-protein coupled receptor protein signaling pathway|chemotaxis|immune response|inflammatory response	extracellular space|soluble fraction	CCR10 chemokine receptor binding|chemokine activity|hormone activity			NS(1)|endometrium(1)|lung(1)|skin(1)|urinary_tract(1)	5						GACACAGGAAGGTGTGTGGGA	0.577000														13			13		0	0	0.002450	0	0
ATP13A4	84239	broad.mit.edu	37	3	193210736	193210736	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr3:193210736G>A	uc003ftd.3	-	4	611	c.503C>T	c.(502-504)tCa>tTa	p.S168L	ATP13A4_uc003fte.1_Missense_Mutation_p.S168L|ATP13A4_uc011bsr.1_5'UTR	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	168					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TGTCAAGCCTGATCCAAATTT	0.318000														21			15		0	0	0.004990	0	0
SYNPO2L	79933	broad.mit.edu	37	10	75407723	75407723	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr10:75407723C>T	uc001jut.4	-	3	1839	c.1687G>A	c.(1687-1689)Gga>Aga	p.G563R	SYNPO2L_uc001jus.4_Missense_Mutation_p.G339R	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN	Homo sapiens synaptopodin 2-like (SYNPO2L), transcript variant 1, mRNA.	563	Pro-rich.					cytoplasm|cytoskeleton	actin binding	p.R563R(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					TCTGGAGCTCCACCTGGGGTG	0.672000														2			13		0	0	0.001855	0	0
ZDHHC3	51304	broad.mit.edu	37	3	45000952	45000952	+	Splice_Site	SNP	T	C	C			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr3:45000952T>C	uc003cod.3	-	2	251	c.-23_splice	c.e2-1		ZDHHC3_uc003cog.3_Splice_Site	NM_016598	NP_057682	Q9NYG2	ZDHC3_HUMAN	Homo sapiens zinc finger, DHHC-type containing 3 (ZDHHC3), transcript variant 2, mRNA.							Golgi membrane|integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)		CATACTGGCATCTGAAAGAGA	0.448000														20			15		0	0	0.003163	0	0
UNC13D	201294	broad.mit.edu	37	17	73831793	73831793	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr17:73831793C>T	uc002jpp.3	-	18	2042	c.1662G>A	c.(1660-1662)gaG>gaA	p.E554E	UNC13D_uc010wsk.1_Silent_p.E554E|UNC13D_uc002jpq.1_Silent_p.E204E	NM_199242	NP_954712	Q70J99	UN13D_HUMAN	Homo sapiens unc-13 homolog D (C. elegans) (UNC13D), mRNA.	554					positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGAACAGACTCTCGCCCATCT	0.632000									Familial Hemophagocytic Lymphohistiocytosis					24			34		0	0	0.006230	0	0
BEST3	144453	broad.mit.edu	37	12	70049528	70049529	+	Missense_Mutation	DNP	TG	AT	AT			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr12:70049528_70049529TG>AT	uc001svg.3	-	9	1392_1393	c.1165_1166CA>AT	c.(1165-1167)cat>ATt	p.H389I	BEST3_uc001svd.2_Intron|BEST3_uc001svf.3_Missense_Mutation_p.H176I|BEST3_uc010stm.2_Missense_Mutation_p.H283I	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA.	389						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			TATCATGGAATGCCGATGGCCA	0.540000														14			8		0	0	0.004672	0	0
DMRTA2	63950	broad.mit.edu	37	1	50885198	50885199	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:50885198_50885199GG>AA	uc010ona.2	-	1	863_864	c.767_768CC>TT	c.(766-768)tcc>tTT	p.S256F	DMRTA2_uc010onb.2_Missense_Mutation_p.S256F	NM_032110	NP_115486	Q96SC8	DMTA2_HUMAN	Homo sapiens DMRT-like family A2 (DMRTA2), mRNA.	256	Gly-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(4)|pancreas(1)	6						CTGCCTCTTTGGAGGCCCGAGC	0.718000														6			6		0	0	0.004672	0	0
SLC16A14	151473	broad.mit.edu	37	2	230910783	230910783	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:230910783G>A	uc002vqd.2	-	3	1518	c.1059C>T	c.(1057-1059)ttC>ttT	p.F353F	FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.3_Silent_p.F353F|SLC16A14_uc002vqf.3_Silent_p.F353F	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	Homo sapiens solute carrier family 16, member 14 (monocarboxylic acid transporter 14) (SLC16A14), mRNA.	353						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		ACGTCAGAGGGAAAACGTCGT	0.428000														31			23		0	0	0.002780	0	0
MED18	54797	broad.mit.edu	37	1	28661008	28661008	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:28661008C>T	uc021okc.1	+	2	420	c.175C>T	c.(175-177)Ctt>Ttt	p.L59F	MED18_uc001bpt.4_Missense_Mutation_p.L52F|MED18_uc009vtg.3_Missense_Mutation_p.L52F	NM_017638	NP_060108	Q9BUE0	MED18_HUMAN	Homo sapiens mediator complex subunit 18 (MED18), transcript variant 1, mRNA.	52					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	identical protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Lung NSC(340;0.000818)|all_lung(284;0.000996)|Renal(390;0.00357)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0557)|Ovarian(437;0.113)		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0141)|READ - Rectum adenocarcinoma(331;0.0649)		TGAGACTTTCCTTGACCATGA	0.522000														168			194		0	0	0.003610	0	0
PNISR	25957	broad.mit.edu	37	6	99860603	99860603	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:99860603C>T	uc003ppo.4	-	3	329	c.101G>A	c.(100-102)tGg>tAg	p.W34*	PNISR_uc003ppp.4_Nonsense_Mutation_p.W34*|PNISR_uc011eag.2_Nonsense_Mutation_p.W34*|PNISR_uc003ppr.2_Nonsense_Mutation_p.W34*|PNISR_uc003ppt.2_Nonsense_Mutation_p.W34*|PNISR_uc003pps.2_Nonsense_Mutation_p.W34*	NM_032870	NP_116259	Q8TF01	PNISR_HUMAN	Homo sapiens PNN-interacting serine/arginine-rich protein (PNISR), transcript variant 1, mRNA.	34	Gln-rich.			W -> R (in Ref. 2; BAB55350).		nuclear speck				breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						CAATGCAGCCCAATCAATCTG	0.423000														12			12		0	0	0.001855	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125192188	125192188	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:125192188C>T	uc010flu.3	+	4	1021	c.657C>T	c.(655-657)ttC>ttT	p.F219F	CNTNAP5_uc002tno.3_Silent_p.F219F	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	219	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GGGTCCTGTTCCATGGAGAAG	0.502000														10			12		0	0	0.000978	0	0
GPR110	266977	broad.mit.edu	37	6	46979926	46979926	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:46979926G>A	uc003oyt.3	-	9	1132	c.933C>T	c.(931-933)ttC>ttT	p.F311F	GPR110_uc011dwl.2_5'UTR	NM_153840	NP_722582	Q5T601	GP110_HUMAN	Homo sapiens G protein-coupled receptor 110 (GPR110), transcript variant 1, mRNA.	311					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						CAATCATACTGAAATTCTAGA	0.393000														46			9		0	0	0.004482	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882624	228882624	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:228882624C>T	uc002vpq.2	-	6	2993	c.2946G>A	c.(2944-2946)aaG>aaA	p.K982K	SPHKAP_uc002vpp.2_Silent_p.K982K|SPHKAP_uc010zlx.1_Silent_p.K982K	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	982						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)		GGCTCTCTTTCTTCCTCTTCA	0.527000														30			38		0	0	0.003755	0	0
ERGIC3	51614	broad.mit.edu	37	20	34144810	34144810	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr20:34144810C>T	uc002xcs.3	+	11	1030	c.961C>T	c.(961-963)Caa>Taa	p.Q321*	ERGIC3_uc002xct.3_Nonsense_Mutation_p.Q316*	NM_198398	NP_938408	Q9Y282	ERGI3_HUMAN	Homo sapiens ERGIC and golgi 3 (ERGIC3), transcript variant 1, mRNA.	316					vesicle-mediated transport	ER-Golgi intermediate compartment membrane|Golgi apparatus|endoplasmic reticulum membrane|integral to membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)	16	Lung NSC(9;0.00489)|all_lung(11;0.00729)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			GTTGGGCGACCAAGGCCTTCC	0.607000														26			22		0	0	0.001882	0	0
BCAS2	10286	broad.mit.edu	37	1	115113361	115113361	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:115113361G>A	uc001efa.3	-	4	483	c.430C>T	c.(430-432)Cat>Tat	p.H144Y	DENND2C_uc001eez.3_Non-coding_Transcript	NM_005872	NP_005863	O75934	SPF27_HUMAN	Homo sapiens breast carcinoma amplified sequence 2 (BCAS2), mRNA.	144					RNA splicing, via transesterification reactions|mRNA processing	nucleolus|spliceosomal complex	protein binding			biliary_tract(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)	13	all_epithelial(7;9.54e-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)		TCAATCATATGAACTAGATTT	0.269000														8			5		0	0	0.001984	0	0
TERT	7015	broad.mit.edu	37	5	1266593	1266593	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:1266593C>T	uc003jcb.1	-	9	2698	c.2640G>A	c.(2638-2640)gcG>gcA	p.A880A	TERT_uc003jbz.1_Silent_p.A76A|TERT_uc003jcc.1_Silent_p.A880A|TERT_uc003jca.1_Silent_p.A868A|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript|TERT_uc021xvz.1_Intron|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_Silent_p.A32A	NM_198253	NP_937983	O14746	TERT_HUMAN	Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.	880	Reverse transcriptase.				DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	PML body|cytoplasm|nucleolus|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GGAAGGTTTTCGCGTGGGTGA	0.557000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis					11			5		0	0	0.000602	0	0
C9orf131	138724	broad.mit.edu	37	9	35044551	35044551	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:35044551G>A	uc003zvw.3	+	1	1954	c.1925G>A	c.(1924-1926)gGt>gAt	p.G642D	C9orf131_uc003zvu.3_Missense_Mutation_p.G594D|C9orf131_uc003zvv.3_Missense_Mutation_p.G569D|C9orf131_uc003zvx.3_Missense_Mutation_p.G607D	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.	642										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			GTGTTCCCAGGTAGGGGCTCC	0.517000														38			32		0	0	0.006230	0	0
TACC2	10579	broad.mit.edu	37	10	123843207	123843207	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr10:123843207G>A	uc001lfv.3	+	3	1552	c.1192G>A	c.(1192-1194)Gaa>Aaa	p.E398K	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.E398K|TACC2_uc010qtv.2_Missense_Mutation_p.E398K	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	398						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CGGCCAGCCCGAAGGGGGTTT	0.587000														9			47		0	0	0.003610	0	0
OR11H1	81061	broad.mit.edu	37	22	16449672	16449672	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr22:16449672G>C	uc011agd.2	-	0	133	c.133C>G	c.(133-135)Ctc>Gtc	p.L45V		NM_001005239	NP_001005239	Q8NG94	O11H1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 1 (OR11H1), mRNA.	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)	11	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)		GTAGTAAAGAGTGAGAAGAGG	0.418000														19			6		0	0	0.003080	0	0
GRIN2B	2904	broad.mit.edu	37	12	13906748	13906748	+	Silent	SNP	G	A	A	rs3026183		TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr12:13906748G>A	uc001rbt.2	-	2	692	c.513C>T	c.(511-513)atC>atT	p.I171I		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	171					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AGGTGGTGACGATAGAAAAGA	0.463000														4			16		0	0	0.006122	0	0
MICB	4277	broad.mit.edu	37	6	31475269	31475269	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:31475269C>T	uc003ntn.4	+	4	1101	c.985C>T	c.(985-987)Cct>Tct	p.P329S	MICB_uc011dnm.2_Missense_Mutation_p.P297S|MICB_uc003nto.4_Missense_Mutation_p.P286S	NM_005931	NP_005922	Q29980	MICB_HUMAN	Homo sapiens MHC class I polypeptide-related sequence B (MICB), mRNA.	329					antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	MHC class I protein complex|integral to plasma membrane	natural killer cell lectin-like receptor binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						TCTCTGTGTCCCTTGTTGCAA	0.463000														144			30		0	0	0.001786	0	0
OR4X2	119764	broad.mit.edu	37	11	48266760	48266760	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:48266760C>T	uc001ngs.1	+	0	105	c.105C>T	c.(103-105)ttC>ttT	p.F35F		NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 2 (OR4X2), mRNA.	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TGGGGAATTTCCTCATTGTGC	0.473000														19			18		0	0	0.006122	0	0
CDC14C	168448	broad.mit.edu	37	7	48964646	48964646	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:48964646C>T	uc010kyv.1	+	0	490	c.378C>T	c.(376-378)atC>atT	p.I126I						Homo sapiens CDC14 cell division cycle 14 homolog C (S. cerevisiae) (CDC14C), non-coding RNA.																		GAATATTAATCTTTGGAGATA	0.403000														52			47		0	0	0.003610	0	0
CFH	3075	broad.mit.edu	37	1	196714956	196714956	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:196714956G>A	uc001gtj.4	+	20	3560	c.3320G>A	c.(3319-3321)gGa>gAa	p.G1107E	CFH_uc021pgt.1_Intron	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	1107	Sushi 19.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GATTCTACAGGAAAATGTGGG	0.398000														83			54		0	0	0.003610	0	0
RAVER1	125950	broad.mit.edu	37	19	10433948	10433948	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:10433948G>A	uc002moa.3	-	4	1082	c.1002C>T	c.(1000-1002)gcC>gcT	p.A334A		NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	Homo sapiens ribonucleoprotein, PTB-binding 1 (RAVER1), mRNA.	317	Interaction with PTBP1 (By similarity).					cytoplasm|nucleus	RNA binding|nucleotide binding|protein binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			CCCGATTGAGGGCCTGCAGGA	0.677000														35			12		0	0	0.002450	0	0
STAB2	55576	broad.mit.edu	37	12	104031812	104031812	+	Missense_Mutation	SNP	G	A	A	rs115145720	byFrequency	TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr12:104031812G>A	uc001tjw.3	+	7	914	c.728G>A	c.(727-729)cGa>cAa	p.R243Q		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	243	EGF-like 4.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.R243*(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCATGTTTACGAAAAATCTGC	0.493000														73			45		0	0	0.003610	0	0
abParts	0	broad.mit.edu	37	15	22473351	22473351	+	RNA	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr15:22473351C>T	uc001yuj.2	-	5		c.60G>A								Parts of antibodies, mostly variable regions.																		ACAGGTGTTTCATGTTCTTGT	0.512000														24			6		0	0	0.003080	0	0
ABCA6	23460	broad.mit.edu	37	17	67083503	67083503	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr17:67083503G>A	uc002jhw.1	-	28	3985	c.3810C>T	c.(3808-3810)atC>atT	p.I1270I		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	1270					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CCTCATCTAAGATTGAAGTGG	0.373000														76			33		0	0	0.002836	0	0
PPIL4	85313	broad.mit.edu	37	6	149855870	149855870	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:149855870G>A	uc003qmo.2	-	5	602	c.505C>T	c.(505-507)Cct>Tct	p.P169S	PPIL4_uc003qmp.2_Missense_Mutation_p.P169S	NM_139126	NP_624311	Q8WUA2	PPIL4_HUMAN	Homo sapiens peptidylprolyl isomerase (cyclophilin)-like 4 (PPIL4), mRNA.	169					protein folding	nucleus	RNA binding|nucleotide binding|peptidyl-prolyl cis-trans isomerase activity	p.D168N(1)		endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		AAATCAGGAGGGTCATCAAAT	0.303000														99			57		0	0	0.003610	0	0
DMBT1	1755	broad.mit.edu	37	10	124380647	124380647	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr10:124380647C>T	uc001lgk.1	+	40	5078	c.4972C>T	c.(4972-4974)Cga>Tga	p.R1658*	DMBT1_uc001lgl.1_Nonsense_Mutation_p.R1648*|DMBT1_uc001lgm.1_Nonsense_Mutation_p.R1030*|DMBT1_uc021qaf.1_Nonsense_Mutation_p.R1658*|DMBT1_uc021qag.1_Nonsense_Mutation_p.R1648*|DMBT1_uc021qah.1_Nonsense_Mutation_p.R1030*|DMBT1_uc009xzz.1_Nonsense_Mutation_p.R1658*|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Nonsense_Mutation_p.R361*|DMBT1_uc009yac.1_5'UTR	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1658	SRCR 13.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGTCCTGTATCGAGGCTCCTG	0.592000														23			183		0	0	0.003610	0	0
SSPO	23145	broad.mit.edu	37	7	149523643	149523643	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:149523643G>A	uc010lpk.3	+	100	14530	c.14530G>A	c.(14530-14532)Ggc>Agc	p.G4844S	SSPO_uc010lpm.1_Non-coding_Transcript|SSPO_uc003wgg.2_Intron|SSPO_uc003wgh.2_Non-coding_Transcript|SSPO_uc003wgi.1_Intron	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	4852					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGCCAGCCTGGCTGTGGCTG	0.682000														10			9		0	0	0.004482	0	0
PARN	5073	broad.mit.edu	37	16	14711453	14711453	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr16:14711453G>A	uc010uzd.2	-	5	528	c.382C>T	c.(382-384)Cga>Tga	p.R128*	PARN_uc010uzc.2_Nonsense_Mutation_p.R67*|PARN_uc010uze.2_Nonsense_Mutation_p.R82*|PARN_uc010uzf.2_Intron|PARN_uc010uzg.2_Non-coding_Transcript	NM_002582	NP_001127949	O95453	PARN_HUMAN	Homo sapiens poly(A)-specific ribonuclease (PARN), transcript variant 1, mRNA.	128					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	p.R128*(3)		cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						TTACCATTTCGAAAAACTTTA	0.358000														44			35		0	0	0.004878	0	0
TBR1	10716	broad.mit.edu	37	2	162274311	162274311	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:162274311C>T	uc002ubw.1	+	1	1119	c.817C>T	c.(817-819)Cct>Tct	p.P273S	TBR1_uc010foy.2_5'Flank	NM_006593	NP_006584	Q16650	TBR1_HUMAN	Homo sapiens T-box, brain, 1 (TBR1), mRNA.	273						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						CAAATGGGTTCCTTGCGGCAA	0.423000														41			35		0	0	0.002836	0	0
CHST12	55501	broad.mit.edu	37	7	2472823	2472823	+	Silent	SNP	C	T	T	rs150939856		TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:2472823C>T	uc003smc.3	+	1	712	c.549C>T	c.(547-549)atC>atT	p.I183I	CHST12_uc003smd.3_Silent_p.I183I|CHST12_uc021zyu.1_Silent_p.I183I|CHST12_uc021zyv.1_Silent_p.I183I	NM_001243794	NP_001230723	Q9NRB3	CHSTC_HUMAN	Homo sapiens carbohydrate (chondroitin 4) sulfotransferase 12 (CHST12), transcript variant 1, mRNA.	183					dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		GCGTGATGATCGTGCTGAGCG	0.677000														39			29		0	0	0.001786	0	0
TNXB	7148	broad.mit.edu	37	6	32037545	32037545	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:32037545G>A	uc003nzl.2	-	14	5574	c.5372C>T	c.(5371-5373)tCc>tTc	p.S1791F		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1873	Fibronectin type-III 10.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	p.S1878F(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GAGGCCCACGGAGTTCTGGGT	0.617000														184			554		0	0	0.003610	0	0
MYL2	4633	broad.mit.edu	37	12	111353546	111353546	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr12:111353546C>T	uc001try.4	-	2	213	c.142G>A	c.(142-144)Gat>Aat	p.D48N	MYL2_uc001trx.4_Missense_Mutation_p.D29N	NM_000432	NP_000423	P10916	MLRV_HUMAN	Homo sapiens myosin, light chain 2, regulatory, cardiac, slow (MYL2), mRNA.	48	EF-hand 1.				cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle	p.D48Y(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						TCTCTCAGATCGTTCTTGTCA	0.527000														96			67		0	0	0.003610	0	0
GIT1	28964	broad.mit.edu	37	17	27903413	27903414	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr17:27903413_27903414GG>AA	uc002heg.2	-	14	1676_1677	c.1462_1463CC>TT	c.(1462-1464)ccc>TTc	p.P488F	GIT1_uc002hef.2_Missense_Mutation_p.P479F|GIT1_uc010wbg.1_Missense_Mutation_p.P488F	NM_001085454	NP_001078923	Q9Y2X7	GIT1_HUMAN	Homo sapiens G protein-coupled receptor kinase interacting ArfGAP 1 (GIT1), transcript variant 1, mRNA.	479					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		TGGAGGTGTGGGCACCGGCCCT	0.649000														63			46		0	0	0.004672	0	0
EPB42	2038	broad.mit.edu	37	15	43489561	43489561	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr15:43489561A>T	uc001zrb.4	-	12	2405	c.2105T>A	c.(2104-2106)aTg>aAg	p.M702K	EPB42_uc001zqz.4_Missense_Mutation_p.M339K|EPB42_uc001zra.4_Missense_Mutation_p.M672K|EPB42_uc010udm.2_Missense_Mutation_p.M594K	NM_000119	NP_000110	P16452	EPB42_HUMAN	Homo sapiens erythrocyte membrane protein band 4.2 (EPB42), transcript variant 1, mRNA.	672					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		GTTCTGGAACATGTTGCAGTC	0.502000														17			17		0	0	0.006122	0	0
ACTRT2	140625	broad.mit.edu	37	1	2938965	2938965	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:2938965C>T	uc001ajz.3	+	0	920	c.715C>T	c.(715-717)Ctg>Ttg	p.L239L		NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN	Homo sapiens actin-related protein T2 (ACTRT2), mRNA.	239						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)		GGAGGAGGTCCTGAGGGAGTA	0.652000														49			21		0	0	0.002780	0	0
BSN	8927	broad.mit.edu	37	3	49689785	49689785	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr3:49689785G>A	uc003cxe.4	+	4	2910	c.2796G>A	c.(2794-2796)aaG>aaA	p.K932K		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	932					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)		GTCGCTTCAAGACCATTGAGC	0.617000														30			39		0	0	0.006230	0	0
SYCP2L	221711	broad.mit.edu	37	6	10924846	10924846	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:10924846C>T	uc003mzo.3	+	14	1486	c.1190C>T	c.(1189-1191)tCc>tTc	p.S397F	SYCP2L_uc011din.1_Missense_Mutation_p.S238F|SYCP2L_uc010jow.3_Missense_Mutation_p.S17F	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA.	397						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			TCACAAGTTtccattcaagct	0.308000														45			17		0	0	0.004990	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307074	39307074	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr3:39307074C>T	uc021wwc.1	-	1	1063	c.1023G>A	c.(1021-1023)ggG>ggA	p.G341G	CX3CR1_uc021wwa.1_Silent_p.G309G|CX3CR1_uc021wwb.1_Silent_p.G309G|CX3CR1_uc003cjl.3_Silent_p.G309G|CX3CR1_uc021wwd.1_Silent_p.G309G	NM_001171174	NP_001164645	P49238	CX3C1_HUMAN	Homo sapiens chemokine (C-X3-C motif) receptor 1 (CX3CR1), transcript variant 1, mRNA.	309					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		CCAGGCATTTCCCATACAGGT	0.478000														59			49		0	0	0.003610	0	0
SLC30A8	169026	broad.mit.edu	37	8	118170045	118170045	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr8:118170045G>A	uc003yoh.3	+	3	764	c.534G>A	c.(532-534)atG>atA	p.M178I	SLC30A8_uc010mcz.3_Missense_Mutation_p.M129I|SLC30A8_uc003yog.3_Missense_Mutation_p.M129I|SLC30A8_uc011lia.2_Missense_Mutation_p.M129I|SLC30A8_uc022bab.1_Missense_Mutation_p.M129I	NM_173851	NP_001166286	Q8IWU4	ZNT8_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 8 (SLC30A8), transcript variant 1, mRNA.	178					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			CGACTGTGATGATCATCGTTT	0.547000														129			81		0	0	0.003610	0	0
TP73	7161	broad.mit.edu	37	1	3644215	3644215	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:3644215C>T	uc001akp.3	+	7	976	c.866C>T	c.(865-867)tCc>tTc	p.S289F	TP73_uc021ofb.1_Missense_Mutation_p.S289F|TP73_uc021ofc.1_Missense_Mutation_p.S289F|TP73_uc021ofd.1_Missense_Mutation_p.S289F|TP73_uc021ofe.1_Missense_Mutation_p.S289F|TP73_uc021off.1_Missense_Mutation_p.S289F|TP73_uc010nzj.2_Missense_Mutation_p.S240F|TP73_uc021ofg.1_Missense_Mutation_p.S240F|TP73_uc021ofh.1_Missense_Mutation_p.S240F|TP73_uc021ofi.1_Missense_Mutation_p.S240F|TP73_uc001akr.3_Missense_Mutation_p.S240F|TP73_uc009vlk.2_Missense_Mutation_p.S240F|TP73_uc001aks.3_Missense_Mutation_p.S240F|TP73_uc010nzk.2_Missense_Mutation_p.S218F|TP73_uc010nzl.2_5'UTR	NM_005427	NP_001191121	O15350	P73_HUMAN	Homo sapiens tumor protein p73 (TP73), transcript variant 1, mRNA.	289	DNA-binding (Potential).				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|cellular response to UV|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to X-ray|response to gamma radiation	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		GGCCGCCGGTCCTTTGAGGGC	0.662000														18			13		0	0	0.003163	0	0
LRP1	4035	broad.mit.edu	37	12	57585108	57585108	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr12:57585108C>T	uc001snd.3	+	43	7708	c.7242C>T	c.(7240-7242)atC>atT	p.I2414I		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	2414					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CACAGGTGATCCTAAAGTCAG	0.627000														10			11		0	0	0.000673	0	0
ZNFX1	57169	broad.mit.edu	37	20	47869271	47869271	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr20:47869271G>A	uc002xui.3	-	11	3449	c.3202C>T	c.(3202-3204)Cgt>Tgt	p.R1068C		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	Homo sapiens zinc finger, NFX1-type containing 1 (ZNFX1), mRNA.	1068							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TAATTCAGACGGACAAAGGGA	0.502000														66			48		0	0	0.003610	0	0
CPNE4	131034	broad.mit.edu	37	3	131442448	131442448	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr3:131442448G>A	uc011blq.2	-	2	366	c.256C>T	c.(256-258)Cgc>Tgc	p.R86C	CPNE4_uc003eok.3_Missense_Mutation_p.R68C|CPNE4_uc003eol.3_Missense_Mutation_p.R86C|CPNE4_uc003eom.3_Missense_Mutation_p.R68C	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN	Homo sapiens copine IV (CPNE4), mRNA.	68	C2 1.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						ATGCAGGTGCGAATCACCTCA	0.423000														39			40		0	0	0.002852	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58565251	58565251	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:58565251G>A	uc002qrc.1	+	5	1306	c.1059G>A	c.(1057-1059)cgG>cgA	p.R353R		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA.	353					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AAGCCCCCCGGAGCAAGGGCC	0.662000														12			13		0	0	0.002450	0	0
NCKIPSD	51517	broad.mit.edu	37	3	48719126	48719126	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr3:48719126C>T	uc003cun.3	-	4	780	c.686G>A	c.(685-687)aGc>aAc	p.S229N	NCKIPSD_uc003cum.3_Missense_Mutation_p.S222N|NCKIPSD_uc010hkh.2_Missense_Mutation_p.S229N	NM_016453	NP_057537	Q9NZQ3	SPN90_HUMAN	Homo sapiens NCK interacting protein with SH3 domain (NCKIPSD), transcript variant 1, mRNA.	229	Pro-rich.|Ser/Thr-rich.				NLS-bearing substrate import into nucleus|cytoskeleton organization|signal transduction	intermediate filament|nucleus	SH3 domain binding|cytoskeletal protein binding			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGGGCTGGAGCTGGTATAGAG	0.662000														8			12		0	0	0.001368	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175689	143175689	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:143175689C>T	uc003wdc.1	+	0	724	c.724C>T	c.(724-726)Ctt>Ttt	p.L242F	LOC285965_uc003wda.3_Intron	NM_176883	NP_795364	P59536	T2R41_HUMAN	Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA.	242					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					CTTCCTCATTCTTTATGCTCT	0.512000														9			15		0	0	0.004990	0	0
AGBL1	123624	broad.mit.edu	37	15	86807702	86807702	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr15:86807702C>T	uc002blz.1	+	9	1242	c.1162C>T	c.(1162-1164)Cct>Tct	p.P388S	AGBL1_uc002bma.1_Missense_Mutation_p.P119S|AGBL1_uc002bmb.1_Missense_Mutation_p.P82S	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	388					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	p.P388S(2)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						CAAAAAAAATCCTGGAGTGAA	0.478000														10			10		0	0	0.006214	0	0
ZNF254	9534	broad.mit.edu	37	19	24310063	24310063	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:24310063C>G	uc002nru.3	+	3	1395	c.1261C>G	c.(1261-1263)Ctt>Gtt	p.L421V	ZNF254_uc010xrk.2_Missense_Mutation_p.L336V	NM_203282	NP_975011	O75437	ZN254_HUMAN	Homo sapiens zinc finger protein 254 (ZNF254), mRNA.	421					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				ATCTTCAAATCTTACTACACA	0.348000														3			4		0	0	0.000602	0	0
SPATC1	375686	broad.mit.edu	37	8	145096185	145096185	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr8:145096185G>A	uc011lkw.2	+	3	1461	c.1359G>A	c.(1357-1359)ctG>ctA	p.L453L	SPATC1_uc011lkx.2_Intron	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	Homo sapiens spermatogenesis and centriole associated 1 (SPATC1), transcript variant 1, mRNA.	453										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCTTCCAGCTGGACCGCAGGA	0.617000														7			13		0	0	0.001368	0	0
DBH	1621	broad.mit.edu	37	9	136516773	136516773	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:136516773G>A	uc004cel.3	+	6	1218	c.1209G>A	c.(1207-1209)ggG>ggA	p.G403G		NM_000787	NP_000778	P09172	DOPO_HUMAN	Homo sapiens dopamine beta-hydroxylase (dopamine beta-monooxygenase) (DBH), mRNA.	403					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	L-ascorbic acid binding|dopamine beta-monooxygenase activity			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	CTCCCTCCGGGATCCACATCT	0.677000														36			15		0	0	0.004007	0	0
TRIM42	287015	broad.mit.edu	37	3	140406642	140406642	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr3:140406642G>A	uc003eto.2	+	2	1324	c.1118G>A	c.(1117-1119)cGa>cAa	p.R373Q		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	Homo sapiens tripartite motif containing 42 (TRIM42), mRNA.	373						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GAGGCAAAGCGAAAAGAGATC	0.393000														30			22		0	0	0.002780	0	0
NDUFAF4	29078	broad.mit.edu	37	6	97339238	97339238	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:97339238C>T	uc003pow.3	-	2	360	c.270G>A	c.(268-270)ccG>ccA	p.P90P	NDUFAF4_uc003pov.3_Non-coding_Transcript	NM_014165	NP_054884	Q9P032	NDUF4_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 4 (NDUFAF4), nuclear gene encoding mitochondrial protein, mRNA.	90					mitochondrial respiratory chain complex I assembly	mitochondrial membrane	calmodulin binding			large_intestine(5)|lung(3)|ovary(1)|skin(1)	10						TGAATTCCTTCGGCTCTTGAC	0.338000														31			38		0	0	0.007835	0	0
PRKCB	5579	broad.mit.edu	37	16	24196848	24196848	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr16:24196848C>A	uc002dmd.3	+	14	1879	c.1682C>A	c.(1681-1683)cCc>cAc	p.P561H	PRKCB_uc002dme.3_Missense_Mutation_p.P561H	NM_212535	NP_997700	P05771	KPCB_HUMAN	Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	561	Protein kinase.				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)	GTAGCCTATCCCAAGTCTATG	0.507000														20			8		9.70103e-10	1.75946e-09	0.000673	1	0
GABRG3	2567	broad.mit.edu	37	15	27773137	27773137	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr15:27773137C>T	uc001zbg.2	+	9	1376	c.1122_splice	c.e9+1	p.S374_splice		NM_033223	NP_150092	Q99928	GBRG3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 3 (GABRG3), mRNA.	374					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		CAAGCCCCTTCCGTACGTATA	0.373000														3			3		0	0	0.004672	0	0
FER1L6	654463	broad.mit.edu	37	8	125076600	125076600	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr8:125076600C>T	uc003yqw.3	+	25	3547	c.3341C>T	c.(3340-3342)tCg>tTg	p.S1114L	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1114						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ATTTCAGATTCGCTAACAGCC	0.527000														26			27		0	0	0.006320	0	0
IGSF5	150084	broad.mit.edu	37	21	41143006	41143006	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr21:41143006C>T	uc002yyo.3	+	3	685	c.582C>T	c.(580-582)agC>agT	p.S194S		NM_001080444	NP_001073913	Q9NSI5	IGSF5_HUMAN	Homo sapiens immunoglobulin superfamily, member 5 (IGSF5), mRNA.	194	Ig-like V-type 2.					integral to membrane|tight junction				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				CGGAGCCCAGCGACCTTCAAA	0.557000														9			7		0	0	0.004482	0	0
NBPF10	100132406	broad.mit.edu	37	1	144828683	144828683	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:144828683C>G	uc009wig.1	+	21	2916	c.2722C>G	c.(2722-2724)Cag>Gag	p.Q908E	NBPF10_uc010oxo.1_Missense_Mutation_p.Q835E|NBPF10_uc010oxn.1_Missense_Mutation_p.Q808E|NBPF10_uc021oth.1_Missense_Mutation_p.Q570E|NBPF10_uc021otj.1_Missense_Mutation_p.Q937E|NBPF10_uc021oto.1_Missense_Mutation_p.Q725E|NBPF10_uc021otr.1_Missense_Mutation_p.Q237E|NBPF10_uc021ots.1_Intron|NBPF10_uc001ekk.1_Missense_Mutation_p.Q481E|NBPF10_uc010oyd.1_Missense_Mutation_p.Q237E|NBPF10_uc010oye.2_Intron|NBPF10_uc001eli.3_Non-coding_Transcript|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	910								p.Q577E(1)		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)		ATTTGAGGAACAGCACATCAG	0.438000														35			17		0	0	0.001216	0	0
FRAS1	80144	broad.mit.edu	37	4	79308703	79308703	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr4:79308703C>T	uc003hlb.2	+	28	4263	c.3823C>T	c.(3823-3825)Cct>Tct	p.P1275S	FRAS1_uc003hkw.3_Missense_Mutation_p.P1275S	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	1274					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						CCCGGCAACCCCTATCTATCA	0.488000														0			12		0	0	0.001368	0	0
PDE10A	10846	broad.mit.edu	37	6	165809912	165809912	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:165809912G>A	uc003qun.3	-	14	1530	c.1285C>T	c.(1285-1287)Cgg>Tgg	p.R429W	PDE10A_uc011egj.2_Non-coding_Transcript|PDE10A_uc011egk.2_Missense_Mutation_p.R359W|PDE10A_uc003quo.3_Missense_Mutation_p.R439W	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	RecName: Full=cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A;          EC=3.1.4.17;          EC=3.1.4.35;	429					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	ATCGTTACCCGGTAAATGCAC	0.403000														58			9		0	0	0.000978	0	0
ACOT11	26027	broad.mit.edu	37	1	55069586	55069586	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:55069586C>T	uc001cxm.2	+	10	1304	c.1128C>T	c.(1126-1128)tcC>tcT	p.S376S	ACOT11_uc001cxj.2_Silent_p.S254S|ACOT11_uc001cxl.2_Silent_p.S376S	NM_015547	NP_056362	Q8WXI4	ACO11_HUMAN	Homo sapiens acyl-CoA thioesterase 11 (ACOT11), transcript variant 1, mRNA.	376	START.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						TGCCCCTCTCCGTCCCCTGGG	0.582000														69			28		0	0	0.002445	0	0
TRIM58	25893	broad.mit.edu	37	1	248039313	248039313	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:248039313G>A	uc001ido.3	+	5	1031	c.983G>A	c.(982-984)cGa>cAa	p.R328Q	OR2W3_uc001idp.1_5'UTR	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	Homo sapiens tripartite motif containing 58 (TRIM58), mRNA.	328	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AACCCTGAGCGATTTGACACA	0.602000														20			14		0	0	0.001855	0	0
DRD1	1812	broad.mit.edu	37	5	174869361	174869361	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:174869361C>T	uc003mcz.3	-	1	1687	c.742G>A	c.(742-744)Gga>Aga	p.G248R	DRD1_uc021yia.1_Missense_Mutation_p.G248R	NM_000794	NP_000785	P21728	DRD1_HUMAN	Homo sapiens dopamine receptor D1 (DRD1), mRNA.	248					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	ACAGGCTTTCCATTACCTGTG	0.483000														57			63		0	0	0.003610	0	0
ZNF99	7652	broad.mit.edu	37	19	22941345	22941345	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:22941345C>T	uc021urt.1	-	3	1521	c.1366G>A	c.(1366-1368)Gaa>Aaa	p.E456K		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.									p.N456S(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CTGCATTCTTCACATTTGTAG	0.373000														15			7		0	0	0.001984	0	0
CD163L1	283316	broad.mit.edu	37	12	7531660	7531660	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr12:7531660C>T	uc010sge.2	-	8	2341	c.2315G>A	c.(2314-2316)gGg>gAg	p.G772E	CD163L1_uc001qsy.3_Missense_Mutation_p.G762E	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	762	SRCR 7.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	p.R771*(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AGAGGCTTCCCCTCCAGTGCA	0.453000														11			37		0	0	0.003755	0	0
AKAP4	8852	broad.mit.edu	37	X	49958743	49958743	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chrX:49958743G>A	uc004dow.1	-	4	745	c.621C>T	c.(619-621)tcC>tcT	p.S207S	AKAP4_uc004dou.1_Silent_p.S198S|AKAP4_uc004dov.1_Intron|AKAP4_uc010njp.1_Silent_p.S29S	NM_003886	NP_647450	Q5JQC9	AKAP4_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 4 (AKAP4), transcript variant 1, mRNA.	207					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CTCCATCAGGGGAAATGACTG	0.448000														9			44		0	0	0.003610	0	0
EPHB1	2047	broad.mit.edu	37	3	134670461	134670461	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr3:134670461G>A	uc003eqt.3	+	2	747	c.372G>A	c.(370-372)aaG>aaA	p.K124K	EPHB1_uc010htz.2_Non-coding_Transcript|EPHB1_uc011bly.2_Silent_p.K124K	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	124						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TTGCCACCAAGAAGTCAGCCT	0.522000														47			34		0	0	0.004289	0	0
LETM1	3954	broad.mit.edu	37	4	1843137	1843137	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr4:1843137G>A	uc003gdv.3	-	2	828	c.531C>T	c.(529-531)atC>atT	p.I177I	LETM1_uc010icc.3_5'Flank|LETM1_uc011bvg.2_Silent_p.I177I	NM_012318	NP_036450	O95202	LETM1_HUMAN	Homo sapiens leucine zipper-EF-hand containing transmembrane protein 1 (LETM1), nuclear gene encoding mitochondrial protein, mRNA.	177	LETM1.				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			TGCGTGCCGCGATCTTGGTGT	0.602000														29			10		0	0	0.000673	0	0
C6orf89	221477	broad.mit.edu	37	6	36887380	36887380	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:36887380C>T	uc003omw.3	+	6	1036	c.873C>T	c.(871-873)atC>atT	p.I291I	C6orf89_uc003omv.3_Silent_p.I178I|C6orf89_uc003omx.3_Silent_p.I284I|C6orf89_uc011dtr.2_Silent_p.I178I	NM_152734	NP_689947	Q6UWU4	CF089_HUMAN	Homo sapiens chromosome 6 open reading frame 89 (C6orf89), mRNA.	284						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						ACCTATTTATCATTGGCAGCG	0.483000														237			36		0	0	0.002222	0	0
MGAM	8972	broad.mit.edu	37	7	141805690	141805690	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:141805690G>A	uc003vwy.3	+	47	5627	c.5573G>A	c.(5572-5574)tGa>tAa	p.*1858*		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	0					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGCACTCTGTGAATTTTTACA	0.328000														52			33		0	0	0.006230	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110504188	110504188	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr8:110504188G>A	uc003yne.3	+	61	10305	c.10201G>A	c.(10201-10203)Gat>Aat	p.D3401N		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3401					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)			GAACAGAAAAGATTTAAGTTC	0.338000										HNSCC(38;0.096)				4			3		0	0	0.004672	0	0
ADAL	161823	broad.mit.edu	37	15	43641199	43641199	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr15:43641199C>T	uc010udo.2	+	9	1221	c.647C>T	c.(646-648)tCc>tTc	p.S216F	ADAL_uc001zrh.3_Missense_Mutation_p.S243F|ADAL_uc001zri.2_Missense_Mutation_p.S128F	NM_001159280	NP_001152752	Q6DHV7	ADAL_HUMAN	Homo sapiens adenosine deaminase-like (ADAL), transcript variant 1, mRNA.	243					adenosine catabolic process|inosine biosynthetic process|purine ribonucleoside monophosphate biosynthetic process		adenosine deaminase activity|metal ion binding			endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)	7		all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;9.31e-07)		GAGGGAGGATCCCTGGATCTG	0.488000														16			22		0	0	0.001523	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140742023	140742023	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:140742023T>C	uc003ljs.2	+	0	2321	c.2321T>C	c.(2320-2322)tTg>tCg	p.L774S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003lju.2_5'Flank|PCDHGC5_uc011dar.2_Missense_Mutation_p.L774S|PCDHGC5_uc011das.2_5'Flank	NM_018923	NP_061746	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 2 (PCDHGB2), transcript variant 1, mRNA.	797					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)			ACCCCGGAATTGGTTCCCGCG	0.468000														121			46		0	0	0.003610	0	0
ZNF157	7712	broad.mit.edu	37	X	47271915	47271915	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chrX:47271915G>A	uc004dhr.1	+	3	512	c.443G>A	c.(442-444)gGc>gAc	p.G148D		NM_003446	NP_003437	P51786	ZN157_HUMAN	Homo sapiens zinc finger protein 157 (ZNF157), mRNA.	148					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						GAGAAAACAGGCTTTGTTAGA	0.383000														5			20		0	0	0.002299	0	0
BPIFB1	92747	broad.mit.edu	37	20	31878884	31878884	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr20:31878884G>A	uc002wyw.1	+	4	648	c.487G>A	c.(487-489)Ggg>Agg	p.G163R	BPIFB1_uc010gej.1_Missense_Mutation_p.G163R	NM_033197	NP_149974	Q8TDL5	LPLC1_HUMAN	Homo sapiens BPI fold containing family B, member 1 (BPIFB1), mRNA.	163						extracellular space	lipid binding										CACCAGCCATGGGAGCCTGCG	0.637000														20			16		0	0	0.007413	0	0
PAPPA	5069	broad.mit.edu	37	9	118950332	118950332	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:118950332G>A	uc004bjn.3	+	1	1696	c.1315G>A	c.(1315-1317)Gat>Aat	p.D439N	PAPPA_uc011lxp.1_Missense_Mutation_p.D232N|PAPPA_uc011lxq.2_Missense_Mutation_p.D232N	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	439	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CGACGGCGGGGATTGCCGCCA	0.597000														26			9		0	0	0.000673	0	0
KCNJ5	3762	broad.mit.edu	37	11	128786602	128786602	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:128786602C>T	uc001qet.3	+	2	1550	c.1236C>T	c.(1234-1236)tcC>tcT	p.S412S	KCNJ5_uc009zck.3_Silent_p.S412S|KCNJ5_uc001qew.3_Silent_p.S412S	NM_000890	NP_000881	P48544	IRK5_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 5 (KCNJ5), mRNA.	412					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	TGGGTGGGTCCAGGGAGGCCA	0.652000														1			5		0	0	0.000602	0	0
FCER2	2208	broad.mit.edu	37	19	7755382	7755382	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:7755382G>A	uc002mhn.3	-	8	748	c.531C>T	c.(529-531)ttC>ttT	p.F177F	FCER2_uc021unx.1_Silent_p.F176F|FCER2_uc002mhm.2_Silent_p.F177F|FCER2_uc010xjt.2_Silent_p.F99F	NM_001220500	NP_001207429	P06734	FCER2_HUMAN	Homo sapiens Fc fragment of IgE, low affinity II, receptor for (CD23) (FCER2), transcript variant 3, mRNA.	177	C-type lectin.				positive regulation of killing of cells of other organism|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of nitric-oxide synthase activity	extracellular region|integral to plasma membrane	IgE binding|integrin binding|receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10						TGCCCTTGCCGAAGTAGTAGC	0.612000														62			22		0	0	0.002299	0	0
NEBL	10529	broad.mit.edu	37	10	21101828	21101828	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr10:21101828G>A	uc001iqi.3	-	23	2785	c.2388C>T	c.(2386-2388)ggC>ggT	p.G796G	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Silent_p.G133G|NEBL_uc021pnu.1_Silent_p.G133G	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	796					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CGGGAGTAAAGCCTCTCCCCT	0.448000														4			8		0	0	0.006214	0	0
ALLC	55821	broad.mit.edu	37	2	3727481	3727481	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:3727481G>A	uc010ewt.3	+	4	356	c.195G>A	c.(193-195)agG>agA	p.R65R		NM_018436	NP_060906	Q8N6M5	ALLC_HUMAN	Homo sapiens allantoicase (ALLC), transcript variant 1, mRNA.	84							allantoicase activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		GTGTCCTCAGGCTGGGGATCC	0.567000										HNSCC(21;0.051)				75			50		0	0	0.003610	0	0
GABARAPL3	23766	broad.mit.edu	37	15	90892289	90892289	+	RNA	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr15:90892289C>T	uc010uqf.2	-	0		c.391G>A								Homo sapiens GABA(A) receptors associated protein like 3, pseudogene (GABARAPL3), non-coding RNA.																		CTAGGTACTTCCTCCTGTCCA	0.498000														17			6		0	0	0.001168	0	0
GUSB	2990	broad.mit.edu	37	7	65435305	65435305	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:65435305G>A	uc003tun.3	-	8	1571	c.1440C>T	c.(1438-1440)acC>acT	p.T480T	GUSB_uc011kdt.2_Silent_p.T334T	NM_000181	NP_000172	P08236	BGLR_HUMAN	Homo sapiens glucuronidase, beta (GUSB), mRNA.	480					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						TGCTCACAAAGGTCACAGGCC	0.572000														43			23		0	0	0.003954	0	0
FER1L6	654463	broad.mit.edu	37	8	125047586	125047586	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr8:125047586C>T	uc003yqw.3	+	18	2561	c.2355C>T	c.(2353-2355)tcC>tcT	p.S785S	FER1L6-AS1_uc003yqx.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	785						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GGCTGGGCTCCATCAAGCATG	0.522000														9			7		0	0	0.006214	0	0
SATL1	340562	broad.mit.edu	37	X	84363848	84363848	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chrX:84363848C>T	uc004een.3	-	0	127	c.127G>A	c.(127-129)Gaa>Aaa	p.E43K		NM_001012980	NP_001012998	Q86VE3	SATL1_HUMAN	Homo sapiens spermidine/spermine N1-acetyl transferase-like 1 (SATL1), mRNA.	98	Gln-rich.						N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						TGGTTCATTTCATATAGGCTT	0.448000											OREG0019887	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		2			9		0	0	0.006214	0	0
FBXO34	55030	broad.mit.edu	37	14	55818286	55818286	+	Missense_Mutation	SNP	C	T	T	rs149853453		TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr14:55818286C>T	uc021rtk.1	+	0	1178	c.1178C>T	c.(1177-1179)tCg>tTg	p.S393L	FBXO34_uc001xbv.3_Non-coding_Transcript|FBXO34_uc001xbu.3_Missense_Mutation_p.S393L|FBXO34_uc010aoo.3_Missense_Mutation_p.S393L	NM_152231	NP_689417	Q9NWN3	FBX34_HUMAN	Homo sapiens F-box protein 34 (FBXO34), transcript variant 2, mRNA.	393										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						GAGCCGGGTTCGCAAACTGCC	0.512000														13			25		0	0	0.003330	0	0
RPAP1	26015	broad.mit.edu	37	15	41829309	41829309	+	Silent	SNP	C	T	T	rs150252012		TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr15:41829309C>T	uc001zod.3	-	1	139	c.15G>A	c.(13-15)ccG>ccA	p.P5P		NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	Homo sapiens RNA polymerase II associated protein 1 (RPAP1), mRNA.	5						nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CCCCTGGCTTCGGTCTCGACA	0.577000														14			5		0	0	0.000602	0	0
CYFIP2	26999	broad.mit.edu	37	5	156731368	156731368	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:156731368C>T	uc021ygm.1	+	7	924	c.786C>T	c.(784-786)ctC>ctT	p.L262L	CYFIP2_uc011ddn.2_Silent_p.L237L|CYFIP2_uc011ddo.2_Intron|CYFIP2_uc021ygn.1_Silent_p.L262L|CYFIP2_uc021ygo.1_Silent_p.L262L|CYFIP2_uc003lwt.3_Silent_p.L141L|CYFIP2_uc011ddp.2_Intron	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA.	263					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AACATATGCTCCTCAAGGTAA	0.453000														115			40		0	0	0.002522	0	0
COL15A1	1306	broad.mit.edu	37	9	101759282	101759282	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:101759282G>A	uc004azb.1	+	5	1077	c.871G>A	c.(871-873)Gaa>Aaa	p.E291K		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	291	Nonhelical region 1 (NC1).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TGAAGACATGGAACTTTCTGG	0.493000														81			41		0	0	0.002522	0	0
IFNW1	3467	broad.mit.edu	37	9	21141194	21141195	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:21141194_21141195CC>TT	uc003zol.1	-	0	950_951	c.375_376GG>AA	c.(373-378)caggta>caAAta	p.V126I		NM_002177	NP_002168	P05000	IFNW1_HUMAN	Homo sapiens interferon, omega 1 (IFNW1), mRNA.	126					cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)	5				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TCTCCCACTACCTGCAGCAAGC	0.535000														12			6		0	0	0.004672	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	143533	143533	+	Missense_Mutation	SNP	C	T	T	rs149661863		TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:143533C>T	uc003jak.2	+	2	708	c.658C>T	c.(658-660)Cgc>Tgc	p.R220C		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	220			R -> H (in dbSNP:rs13436090).		regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GGTGCAGGTCCGCACCAGGAG	0.642000														23			22		0	0	0.002299	0	0
MYH1	4619	broad.mit.edu	37	17	10395837	10395837	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr17:10395837C>T	uc002gmo.3	-	39	5810	c.5716G>A	c.(5716-5718)Gag>Aag	p.E1906K	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1906						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCCTCCAGCTCGTGCTGGATC	0.483000														51			45		0	0	0.003610	0	0
CTDP1	9150	broad.mit.edu	37	18	77477868	77477868	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr18:77477868C>T	uc002lnh.2	+	9	2416	c.2269C>T	c.(2269-2271)Cac>Tac	p.H757Y	CTDP1_uc002lni.2_Missense_Mutation_p.H757Y|CTDP1_uc010drd.2_Missense_Mutation_p.H757Y|CTDP1_uc021ult.1_Missense_Mutation_p.H638Y	NM_004715	NP_001189433	Q9Y5B0	CTDP1_HUMAN	Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 (CTDP1), transcript variant 1, mRNA.	757					positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		CGCCTTGTTCCACCCGATGCC	0.701000														27			29		0	0	0.002096	0	0
AADACL3	126767	broad.mit.edu	37	1	12785762	12785762	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:12785762C>T	uc009vnn.1	+	3	1085	c.852C>T	c.(850-852)atC>atT	p.I284I	AADACL3_uc001aug.1_Silent_p.I214I	NM_001103170	NP_001096640	Q5VUY0	ADCL3_HUMAN	Homo sapiens arylacetamide deacetylase-like 3 (AADACL3), transcript variant 1, mRNA.	284							hydrolase activity			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		AAACCTGCATCGTGAGCTGTG	0.512000														30			20		0	0	0.001523	0	0
DNAJA4	55466	broad.mit.edu	37	15	78562890	78562890	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr15:78562890G>A	uc002bdi.3	+	2	440	c.271G>A	c.(271-273)Gat>Aat	p.D91N	DNAJA4_uc002bdj.2_Missense_Mutation_p.D62N|DNAJA4_uc002bdk.3_Missense_Mutation_p.D35N|DNAJA4_uc002bdl.3_5'UTR	NM_018602	NP_001123654	Q8WW22	DNJA4_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily A, member 4 (DNAJA4), transcript variant 1, mRNA.	62	Gly-rich.				protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						AAAGAAAAGGGATGTTTATGA	0.423000														86			64		0	0	0.003610	0	0
SLC16A14	151473	broad.mit.edu	37	2	230911184	230911184	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:230911184C>T	uc002vqd.2	-	3	1117	c.658G>A	c.(658-660)Gac>Aac	p.D220N	FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.3_Missense_Mutation_p.D220N|SLC16A14_uc002vqf.3_Missense_Mutation_p.D220N	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	Homo sapiens solute carrier family 16, member 14 (monocarboxylic acid transporter 14) (SLC16A14), mRNA.	220						integral to membrane|plasma membrane	symporter activity	p.N219N(1)		NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		TCTCCTGGGTCGTTTGGGTTT	0.552000														34			28		0	0	0.007291	0	0
SLC15A3	51296	broad.mit.edu	37	11	60705425	60705425	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:60705425G>A	uc001nqn.2	-	6	1742	c.1508C>T	c.(1507-1509)tCg>tTg	p.S503L	SLC15A3_uc001nqo.2_Missense_Mutation_p.R447W	NM_016582	NP_057666	Q8IY34	S15A3_HUMAN	Homo sapiens solute carrier family 15, member 3 (SLC15A3), transcript variant 1, mRNA.	503					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						GCCCACCCCCGACAGGCAGAA	0.642000														22			20		0	0	0.001523	0	0
MARC1	64757	broad.mit.edu	37	1	220978453	220978453	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:220978453C>T	uc001hmt.3	+	4	1112	c.864C>T	c.(862-864)tcC>tcT	p.S288S	MARC1_uc001hms.3_Silent_p.S271S	NM_022746	NP_073583	Q5VT66	MOSC1_HUMAN	Homo sapiens mitochondrial amidoxime reducing component 1 (MARC1), nuclear gene encoding mitochondrial protein, mRNA.	271	MOSC.						molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding										TGGCTTGTTCCAGGTAAGGTG	0.512000														34			44		0	0	0.003610	0	0
C7	730	broad.mit.edu	37	5	40947888	40947888	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:40947888C>T	uc003jmh.3	+	7	1037	c.923C>T	c.(922-924)tCg>tTg	p.S308L	C7_uc011cpn.1_Intron	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	308	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				CAATCTGGGTCGTTAGGAGGA	0.413000														7			15		0	0	0.004990	0	0
TTN	7273	broad.mit.edu	37	2	179584443	179584443	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:179584443C>T	uc021vsy.1	-	78	20269	c.20044G>A	c.(20044-20046)Gga>Aga	p.G6682R	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G3343R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7609	Ig-like 48.						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)			AATTCTCTTCCATCTTTGAAC	0.428000														8			7		0	0	0.003080	0	0
LILRA1	11024	broad.mit.edu	37	19	55106754	55106754	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:55106754C>T	uc002qgh.1	+	4	730	c.548C>T	c.(547-549)tCt>tTt	p.S183F	LILRA1_uc010yfg.1_Intron|LILRA1_uc010yfh.2_Missense_Mutation_p.S183F	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	183	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	p.F182F(1)|p.S183S(1)		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)		GCCATCTTCTCTGTGGGCCCC	0.567000														60			53		0	0	0.003610	0	0
KRT36	8689	broad.mit.edu	37	17	39642654	39642654	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr17:39642654C>T	uc002hwt.3	-	6	1378	c.1378G>A	c.(1378-1380)Gag>Aag	p.E460K		NM_003771	NP_003762	O76013	KRT36_HUMAN	Homo sapiens keratin 36 (KRT36), mRNA.	460	Tail.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				TGCACGTGCTCCCTGGAGGAG	0.642000														13			12		0	0	0.002450	0	0
FARS2	10667	broad.mit.edu	37	6	5404775	5404775	+	Splice_Site	SNP	T	C	C			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:5404775T>C	uc010jnv.1	+	3	949	c.613_splice	c.e3-1	p.L205_splice	FARS2_uc003mwr.2_Splice_Site_p.L205_splice	NM_006567	NP_006558	O95363	SYFM_HUMAN	Homo sapiens phenylalanyl-tRNA synthetase 2, mitochondrial (FARS2), nuclear gene encoding mitochondrial protein, mRNA.	205					phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	TGGTTTACAGTTATTTGCTGG	0.378000														50			20		0	0	0.002299	0	0
CYP24A1	1591	broad.mit.edu	37	20	52774095	52774095	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr20:52774095C>T	uc002xwv.2	-	9	1664	c.1266G>A	c.(1264-1266)ttG>ttA	p.L422L	CYP24A1_uc002xwu.1_Silent_p.L280L|CYP24A1_uc002xww.2_Intron	NM_000782	NP_000773	Q07973	CP24A_HUMAN	Homo sapiens cytochrome P450, family 24, subfamily A, polypeptide 1 (CYP24A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	422					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	CACTGGATCCCAACACCTGGG	0.383000														39			37		0	0	0.007835	0	0
KAT6A	7994	broad.mit.edu	37	8	41834820	41834820	+	Nonsense_Mutation	SNP	G	A	A	rs144857451		TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr8:41834820G>A	uc010lxb.3	-	7	1613	c.1069C>T	c.(1069-1071)Cga>Tga	p.R357*	KAT6A_uc010lxc.3_Nonsense_Mutation_p.R357*|KAT6A_uc003xon.4_Nonsense_Mutation_p.R357*|KAT6A_uc010lxd.3_Nonsense_Mutation_p.R357*	NM_001099412	NP_006757	Q92794	MYST3_HUMAN	Homo sapiens K(lysine) acetyltransferase 6A (KAT6A), transcript variant 1, mRNA.	357	Interaction with RUNX1-1.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	p.R357*(1)									GGGCCAGTTCGAACTTTGCTG	0.378000														8			17		0	0	0.007413	0	0
BV13S6J2.1	0	broad.mit.edu	37	7	142180769	142180769	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:142180769C>T	uc011krz.2	-	1	139	c.90G>A	c.(88-90)caG>caA	p.Q30Q	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Silent_p.Q30Q|BV13S6J2.1_uc022anl.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		TCTTCAGGACCTGGAATTTTG	0.547000														75			16		0	0	0.002299	0	0
F13A1	2162	broad.mit.edu	37	6	6266803	6266803	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:6266803G>A	uc003mwv.3	-	3	682	c.559C>T	c.(559-561)Cct>Tct	p.P187S	F13A1_uc011dib.2_Missense_Mutation_p.P124S	NM_000129	NP_000120	P00488	F13A_HUMAN	Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	187					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TCACACCAAGGATTGAAGAGA	0.458000														64			15		0	0	0.006122	0	0
E2F8	79733	broad.mit.edu	37	11	19251216	19251216	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:19251216C>A	uc001mpm.3	-	9	2200	c.1678G>T	c.(1678-1680)Gat>Tat	p.D560Y	E2F8_uc009yhv.3_Intron|E2F8_uc001mpn.4_Missense_Mutation_p.D560Y	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	Homo sapiens E2F transcription factor 8 (E2F8), transcript variant 1, mRNA.	560					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.D560N(2)		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						GTGGTGGCATCTGTGGAGTCT	0.582000														69			74		9.78802e-22	1.79573e-21	0.003610	1	0
MYO7B	4648	broad.mit.edu	37	2	128341887	128341887	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:128341887G>A	uc002top.3	+	12	1587	c.1534G>A	c.(1534-1536)Gaa>Aaa	p.E512K		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	512	Myosin head-like.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CCTCCTGGACGAAGAAAGCCG	0.602000														32			22		0	0	0.003954	0	0
PSG5	5673	broad.mit.edu	37	19	43674281	43674281	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:43674281C>T	uc002ovu.3	-	4	1105	c.974G>A	c.(973-975)gGa>gAa	p.G325E	PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Missense_Mutation_p.G325E	NM_002781	NP_002772	Q15238	PSG5_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.	325					female pregnancy	extracellular region		p.G325*(1)|p.S324L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				ACGTCCTATTCCTGAAGGAGC	0.438000														47			29		0	0	0.002836	0	0
MYH8	4626	broad.mit.edu	37	17	10304925	10304925	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr17:10304925C>T	uc002gmm.2	-	22	2961	c.2866G>A	c.(2866-2868)Gac>Aac	p.D956N	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	956					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCATCAATGTCTTTCTTGAGT	0.438000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					219			159		0	0	0.003610	0	0
TMEM59L	25789	broad.mit.edu	37	19	18729195	18729195	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:18729195C>T	uc002njy.4	+	6	880	c.793C>T	c.(793-795)Ctg>Ttg	p.L265L		NM_012109	NP_036241	Q9UK28	TM59L_HUMAN	Homo sapiens transmembrane protein 59-like (TMEM59L), mRNA.	265						Golgi membrane|integral to membrane|membrane fraction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						GCGCTCGGGTCTGCCTCGCTG	0.706000														15			19		0	0	0.001216	0	0
KCNN3	3782	broad.mit.edu	37	1	154794621	154794621	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:154794621G>A	uc021pah.1	-	1	1287	c.973C>T	c.(973-975)Ctg>Ttg	p.L325L	KCNN3_uc001ffo.3_Silent_p.L20L|KCNN3_uc001ffp.3_Silent_p.L325L|KCNN3_uc009wox.1_Silent_p.L325L	NM_001204087	NP_001191016	Q9UGI6	KCNN3_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (KCNN3), transcript variant 3, mRNA.	330						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			ATGGTGGACAGACTGATAAGG	0.522000														33			34		0	0	0.003610	0	0
NOTCH1	4851	broad.mit.edu	37	9	139418180	139418180	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:139418180G>A	uc004chz.3	-	2	392	c.392C>T	c.(391-393)cCc>cTc	p.P131L		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	131	EGF-like 3.				Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGACCAGCCGGGCGGGCAGCG	0.692000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)				8			7		0	0	0.004482	0	0
COL5A2	1290	broad.mit.edu	37	2	189926325	189926325	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:189926325C>A	uc002uqk.3	-	29	2269	c.1994G>T	c.(1993-1995)aGa>aTa	p.R665I	COL5A2_uc010frx.3_Missense_Mutation_p.R241I	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	665					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TTGTTCTCCTCTTTCACCAGC	0.383000														12			11		2.32078e-09	4.20385e-09	0.003163	1	0
CYP4Z2P	163720	broad.mit.edu	37	1	47364570	47364570	+	RNA	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:47364570C>T	uc001cqo.1	-	1		c.305G>A			CYP4Z2P_uc009vyn.1_Non-coding_Transcript					Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 2 pseudogene (CYP4Z2P), non-coding RNA.																		TGAAGAACATCGTAAAGGGTC	0.433000														18			8		0	0	0.003080	0	0
MRPS24	64951	broad.mit.edu	37	7	43906416	43906416	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr7:43906416G>A	uc003tit.1	-	3	437	c.386C>T	c.(385-387)cCa>cTa	p.P129L	URGCP_uc022acg.1_3'UTR	NM_032014	NP_114403	Q96EL2	RT24_HUMAN	Homo sapiens mitochondrial ribosomal protein S24 (MRPS24), nuclear gene encoding mitochondrial protein, mRNA.	129					translation	mitochondrial large ribosomal subunit|mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5						GTACTTGTGTGGAGACAACTG	0.532000														43			38		0	0	0.001951	0	0
RGS7BP	401190	broad.mit.edu	37	5	63802466	63802466	+	Silent	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:63802466G>A	uc003jtj.3	+	0	15	c.15G>A	c.(13-15)ccG>ccA	p.P5P		NM_001029875	NP_001025046	Q6MZT1	R7BP_HUMAN	Homo sapiens regulator of G-protein signaling 7 binding protein (RGS7BP), mRNA.	5					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane				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)		GTTCTGCACCGAATGGGCGCA	0.692000														14			12		0	0	0.000978	0	0
CP	1356	broad.mit.edu	37	3	148904371	148904371	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr3:148904371C>T	uc003ewy.4	-	10	2266	c.2013G>A	c.(2011-2013)cgG>cgA	p.R671R	CP_uc011bnr.2_Intron|CP_uc003ewx.4_Silent_p.R452R|CP_uc003ewz.3_Silent_p.R671R|CP_uc010hvf.1_Silent_p.R397R	NM_000096	NP_000087	P00450	CERU_HUMAN	Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA.	671	F5/8 type A 2.|Plastocyanin-like 4.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	CTGTGTCTCTCCGTTCTCCTC	0.458000														26			27		0	0	0.007291	0	0
TMEM184B	25829	broad.mit.edu	37	22	38627296	38627296	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr22:38627296C>T	uc003avf.1	-	3	627	c.403G>A	c.(403-405)Gga>Aga	p.G135R	TMEM184B_uc003avh.2_Missense_Mutation_p.G69R|TMEM184B_uc003avg.2_Missense_Mutation_p.G135R|TMEM184B_uc010gxl.2_Non-coding_Transcript	NM_001195071	NP_001182001	Q9Y519	T184B_HUMAN	Homo sapiens transmembrane protein 184B (TMEM184B), transcript variant 2, mRNA.	135						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8	Melanoma(58;0.045)					CTTTCTCCTCCTAGGTACTCA	0.507000														17			80		0	0	0.003610	0	0
HAS1	3036	broad.mit.edu	37	19	52222609	52222609	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr19:52222609C>T	uc002pxn.1	-	0	586	c.573G>A	c.(571-573)cgG>cgA	p.R191R	HAS1_uc010epc.1_5'Flank|HAS1_uc010epd.1_Silent_p.R149R|HAS1_uc002pxo.1_Silent_p.R184R|HAS1_uc002pxp.1_Silent_p.R183R	NM_001523	NP_001514	Q92839	HAS1_HUMAN	Homo sapiens hyaluronan synthase 1 (HAS1), mRNA.	184					cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CCTCCACCTCCCGATAGGCTc	0.736000														6			7		0	0	0.001984	0	0
DKK4	27121	broad.mit.edu	37	8	42234552	42234552	+	Silent	SNP	G	A	A	rs148434708		TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr8:42234552G>A	uc003xpb.3	-	0	123	c.12C>T	c.(10-12)gcC>gcT	p.A4A		NM_014420	NP_055235	Q9UBT3	DKK4_HUMAN	Homo sapiens dickkopf homolog 4 (Xenopus laevis) (DKK4), mRNA.	4					Wnt receptor signaling pathway|multicellular organismal development|negative regulation of Wnt receptor signaling pathway	extracellular region				NS(1)|endometrium(1)|large_intestine(7)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)			CCAGCAGGACGGCCGCCACCA	0.642000														6			8		0	0	0.004482	0	0
SCN9A	6335	broad.mit.edu	37	2	167160752	167160752	+	Silent	SNP	G	A	A	rs71428908		TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:167160752G>A	uc010fpl.3	-	5	1025	c.684C>T	c.(682-684)atC>atT	p.I228I	SCN9A_uc002udr.1_Silent_p.I99I|SCN9A_uc002uds.1_Intron|SCN9A_uc002udt.1_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	228			I -> M.			voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TCTTACCTGGGATTACAGAAA	0.373000														17			16		0	0	0.001523	0	0
GLP2R	9340	broad.mit.edu	37	17	9774075	9774075	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr17:9774075C>T	uc002gmd.1	+	9	1068	c.1068C>T	c.(1066-1068)ttC>ttT	p.F356F		NM_004246	NP_004237	O95838	GLP2R_HUMAN	Homo sapiens glucagon-like peptide 2 receptor (GLP2R), mRNA.	356					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	TCAATTTCTTCATCTTCCTGA	0.418000														161			89		0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179485498	179485498	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:179485498G>A	uc021vsy.1	-	195	38360	c.38135C>T	c.(38134-38136)tCt>tTt	p.S12712F	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.S6407F|TTN_uc021vta.1_Missense_Mutation_p.S6340F|TTN_uc021vtb.1_Missense_Mutation_p.S6215F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13639							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)			ATTGGTCAAAGACACATTATA	0.338000														13			16		0	0	0.001216	0	0
ITGA6	3655	broad.mit.edu	37	2	173349974	173349974	+	Silent	SNP	C	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr2:173349974C>T	uc002uhp.1	+	12	2039	c.1836C>T	c.(1834-1836)ccC>ccT	p.P612P	ITGA6_uc010zdy.1_Silent_p.P493P|ITGA6_uc002uho.1_Silent_p.P612P|ITGA6_uc010fqm.1_Silent_p.P258P	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	Homo sapiens integrin, alpha 6 (ITGA6), transcript variant 1, mRNA.	651					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			CAGATGAACCCAAGACAGCTC	0.403000														51			23		0	0	0.006320	0	0
ARID1A	8289	broad.mit.edu	37	1	27106022	27106023	+	Frame_Shift_Ins	INS	-	T	T			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr1:27106022_27106023insT	uc001bmv.1	+	19	6006_6007	c.5633_5634insT	c.(5632-5634)cctfs	p.P1878fs	ARID1A_uc001bmu.1_Frame_Shift_Ins_p.P1661fs|ARID1A_uc001bmx.1_Frame_Shift_Ins_p.P724fs|ARID1A_uc009vsm.1_Frame_Shift_Ins_p.P206fs|ARID1A_uc009vsn.1_Frame_Shift_Ins_p.P120fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1878					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCACCAGCCCCTCGGAAGCATG	0.614			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								---	58	---	---	72	---					
CCNG1	900	broad.mit.edu	37	5	162866446	162866447	+	Frame_Shift_Ins	INS	-	TA	TA			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr5:162866446_162866447insTA	uc003lzb.3	+	1	418_419	c.184_185insTA	c.(184-186)ctafs	p.L62fs	CCNG1_uc011dek.1_Intron|CCNG1_uc011del.2_Intron|CCNG1_uc003lzc.3_Intron	NM_199246	NP_954854	P51959	CCNG1_HUMAN	Homo sapiens cyclin G1 (CCNG1), transcript variant 2, mRNA.	62					cell division|mitosis|regulation of cyclin-dependent protein kinase activity	nucleus				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0597)|OV - Ovarian serous cystadenocarcinoma(192;0.107)|Epithelial(171;0.164)		TCTTCTTAGTCTAACTCAGTTC	0.391													---	50	---	---	37	---					
CFB	629	broad.mit.edu	37	6	31895549	31895549	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr6:31895549delT	uc011dor.2	+	0	284	c.20delT	c.(19-21)cttfs	p.L7fs	CFB_uc003nyc.2_Intron|CFB_uc011doo.2_Intron|CFB_uc011dop.2_Intron|CFB_uc003nye.4_Frame_Shift_Del_p.L7fs|CFB_uc003nyf.3_Frame_Shift_Del_p.L7fs|CFB_uc010jtk.3_Frame_Shift_Del_p.L7fs|CFB_uc011doq.2_5'UTR	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	0					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						CTGATGGTTCTTTTTTGCCTG	0.582													---	1230	---	---	7	---					
CIZ1	25792	broad.mit.edu	37	9	130953109	130953111	+	In_Frame_Del	DEL	GCT	-	-			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr9:130953109_130953111delGCT	uc011mas.2	-	1	281_283	c.116_118delAGC	c.(115-120)cagctc>ctc	p.Q39del	CIZ1_uc004btr.3_In_Frame_Del_p.Q9del|CIZ1_uc004bts.3_In_Frame_Del_p.Q9del|CIZ1_uc011maq.2_In_Frame_Del_p.Q9del|CIZ1_uc004btu.3_In_Frame_Del_p.Q9del|CIZ1_uc004btt.3_In_Frame_Del_p.Q9del|CIZ1_uc011mar.2_5'UTR|CIZ1_uc004btw.3_In_Frame_Del_p.Q9del|CIZ1_uc004btv.3_In_Frame_Del_p.Q9del|CIZ1_uc004btx.2_In_Frame_Del_p.Q9del	NM_012127	NP_036259	Q9ULV3	CIZ1_HUMAN	Homo sapiens CDKN1A interacting zinc finger protein 1 (CIZ1), transcript variant 1, mRNA.	9	Gln-rich.					nucleus	nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						tgttgctggagctgctgctgctg	0.611													---	4	---	---	2	---					
KDM4D	55693	broad.mit.edu	37	11	94730806	94730807	+	Frame_Shift_Ins	INS	-	A	A	rs142280183	by1000genomes	TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr11:94730806_94730807insA	uc021qow.1	+	0	270_271	c.270_271insA	c.(268-273)cataaafs	p.H90fs	KDM4D_uc001pfe.3_Frame_Shift_Ins_p.H90fs	NM_018039	NP_060509	Q6B0I6	KDM4D_HUMAN	Homo sapiens lysine (K)-specific demethylase 4D (KDM4D), mRNA.	90					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CTCAATACCATAAAAAAAAGAA	0.455													---	491	---	---	7	---					
BANP	54971	broad.mit.edu	37	16	88052139	88052139	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A2MM-06A-11D-A196-08	TCGA-EE-A2MM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd16c83d-697e-4a22-8c05-9035bfa179ec	5b700305-fddd-4586-aa4f-5444e15d76ed	g.chr16:88052139delG	uc002fkr.3	+	6	958	c.737delG	c.(736-738)cgcfs	p.R246fs	BANP_uc010vov.2_Frame_Shift_Del_p.R221fs|BANP_uc002fkq.3_Frame_Shift_Del_p.R215fs|BANP_uc002fks.4_Frame_Shift_Del_p.R215fs|BANP_uc002fkp.3_Frame_Shift_Del_p.R215fs|BANP_uc010vow.2_Frame_Shift_Del_p.R254fs|BANP_uc021tml.1_Frame_Shift_Del_p.R254fs|BANP_uc002fko.1_Frame_Shift_Del_p.R151fs	NM_001173543	NP_001167014	Q8N9N5	BANP_HUMAN	Homo sapiens BTG3 associated nuclear protein (BANP), transcript variant 7, mRNA.	246	BEN.|Interaction with CUX1 and HDAC1 (By similarity).				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		ACCAACTGCCGCACGGCCGAG	0.642													---	13	---	---	6	---