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
MED23	9439	broad.mit.edu	37	6	131927636	131927636	+	Silent	SNP	G	A	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr6:131927636G>A	uc003qcs.1	-	12	1524	c.1350C>T	c.(1348-1350)tcC>tcT	p.S450S	MED23_uc003qcq.3_Silent_p.S456S|MED23_uc011eca.1_Silent_p.S91S|MED23_uc003qct.1_Silent_p.S456S|MED23_uc011ecb.1_Non-coding_Transcript	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	Homo sapiens mediator complex subunit 23 (MED23), transcript variant 1, mRNA.	450					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		GAAGTCTTAGGGAATGAGGTA	0.368000														38			8		0	0	0.000442599	0	0
ITPR1	3708	broad.mit.edu	37	3	4825540	4825540	+	Missense_Mutation	SNP	C	A	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr3:4825540C>A	uc003bqc.3	+	49	6856	c.6506C>A	c.(6505-6507)cCt>cAt	p.P2169H	ITPR1_uc021wsi.1_Missense_Mutation_p.P2136H|ITPR1_uc021wsj.1_Missense_Mutation_p.P2121H|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	2184					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		ATGCTGAAACCTGGTGGCCAA	0.493000														6			4		1.23904e-05	4.82798e-05	0.000602214	1	0
GPHB5	122876	broad.mit.edu	37	14	63784382	63784382	+	Nonsense_Mutation	SNP	C	T	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr14:63784382C>T	uc021rud.1	-	2	237	c.180G>A	c.(178-180)tgG>tgA	p.W60*		NM_145171	NP_660154	Q86YW7	GPHB5_HUMAN	Homo sapiens glycoprotein hormone beta 5 (GPHB5), mRNA.	61						extracellular region	hormone activity	p.C59C(1)|p.W60C(1)		breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978)		CACAGCGACCCCAGCAGGCAT	0.552000														33			5		0	0	0.00116845	0	0
CLK3	1198	broad.mit.edu	37	15	74911677	74911677	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr15:74911677C>T	uc010uln.2	+	1	1045	c.584C>T	c.(583-585)tCt>tTt	p.S195F	CLK3_uc002ayg.4_Missense_Mutation_p.S47F|CLK3_uc002ayh.4_5'UTR|CLK3_uc010ulm.1_Missense_Mutation_p.S195F|CLK3_uc002ayj.4_Missense_Mutation_p.S47F|CLK3_uc002ayk.4_5'UTR	NM_001130028	NP_003983	P49761	CLK3_HUMAN	Homo sapiens CDC-like kinase 3 (CLK3), transcript variant 1, mRNA.	195	Arg-rich.					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						CCACGAAGATCTCGGTCCAGA	0.577000														55			15		0	0	0.000422831	0	0
MUC16	94025	broad.mit.edu	37	19	8996340	8996340	+	Silent	SNP	G	A	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr19:8996340G>A	uc002mkp.3	-	60	41436	c.41232C>T	c.(41230-41232)aaC>aaT	p.N13744N	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Silent_p.N561N|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13746	SEA 11.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGAGGCTGTCGTTGTCCAGGG	0.542000														133			37		0	0	0.000680045	0	0
FRG1B	284802	broad.mit.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	T	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr20:29625941A>T	uc010ztl.1	+	1	127	c.95A>T	c.(94-96)gAt>gTt	p.D32V	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.D62V(2)|p.A32T(1)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGCATTCAGATGCAATTGGA	0.333000														61			6		0	0	0.00198382	0	0
NLRP13	126204	broad.mit.edu	37	19	56424151	56424151	+	Silent	SNP	G	A	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr19:56424151G>A	uc010ygg.2	-	4	1057	c.1032C>T	c.(1030-1032)atC>atT	p.I344I		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	344	NACHT.						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)		AGCTGTGTAGGATTTTGGTCA	0.463000														79			17		0	0	0.000422831	0	0
NPSR1	387129	broad.mit.edu	37	7	34724261	34724261	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr7:34724261G>A	uc003teh.1	+	1	373	c.245G>A	c.(244-246)aGa>aAa	p.R82K	NPSR1-AS1_uc010kwo.2_Intron|NPSR1-AS1_uc010kwp.2_Intron|NPSR1-AS1_uc003tdz.3_Intron|NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc003teb.1_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Missense_Mutation_p.R82K|NPSR1_uc010kwt.1_5'UTR|NPSR1_uc010kwu.1_5'UTR|NPSR1_uc010kwv.1_Missense_Mutation_p.R82K|NPSR1_uc003tei.1_Missense_Mutation_p.R82K|NPSR1_uc010kww.1_Missense_Mutation_p.R82K|NPSR1_uc011kar.1_Missense_Mutation_p.R82K	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	82						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	AAGAAGTCAAGAATGACCTTC	0.433000														61			12		0	0	0.000978159	0	0
LOC338651	338651	broad.mit.edu	37	11	1619166	1619166	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr11:1619166C>T	uc009ycx.1	+	1	1017	c.266C>T	c.(265-267)cCt>cTt	p.P89L	MOB2_uc001ltq.2_Intron|LOC338651_uc001ltt.1_Non-coding_Transcript|KRTAP5-2_uc001ltv.3_Silent_p.K105K					Homo sapiens uncharacterized LOC338651 (LOC338651), non-coding RNA.																		CACAGCCCCCCTTGGAACCCC	0.652000														55			27		0	0	0.00106085	0	0
CPNE3	8895	broad.mit.edu	37	8	87560537	87560537	+	Silent	SNP	G	A	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr8:87560537G>A	uc003ydv.2	+	11	1050	c.888G>A	c.(886-888)gtG>gtA	p.V296V	CPNE3_uc003ydw.1_Silent_p.V12V	NM_003909	NP_003900	O75131	CPNE3_HUMAN	Homo sapiens copine III (CPNE3), mRNA.	296	VWFA.				lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity	p.G295R(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						AGGTGGGAGTGGACTTCACTG	0.493000														41			9		0	0	0.000978159	0	0
DNM3	26052	broad.mit.edu	37	1	172356371	172356371	+	Silent	SNP	G	A	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr1:172356371G>A	uc001gie.3	+	18	2333	c.2157G>A	c.(2155-2157)cgG>cgA	p.R719R	DNM3_uc001gif.3_Silent_p.R715R|DNM3_uc001gih.1_Silent_p.R75R	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	Homo sapiens dynamin 3 (DNM3), transcript variant 1, mRNA.	725	GED.				endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CTCAGCGCCGGGATGAGATGC	0.512000														71			24		0	0	0.00106085	0	0
CCDC158	339965	broad.mit.edu	37	4	77272262	77272262	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr4:77272262G>A	uc003hkb.4	-	16	2704	c.2551C>T	c.(2551-2553)Cct>Tct	p.P851S		NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	851										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						GTGTATCCAGGGCCCTGAAGT	0.393000														101			51		0	0	0.000781405	0	0
C20orf43	51507	broad.mit.edu	37	20	55052148	55052148	+	Silent	SNP	C	G	G			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr20:55052148C>G	uc010zzf.1	+	4	563	c.456C>G	c.(454-456)ccC>ccG	p.P152P	C20orf43_uc002xxt.2_Silent_p.P122P|C20orf43_uc002xxu.2_Silent_p.P122P	NM_016407	NP_057491	Q9BY42	CT043_HUMAN	Homo sapiens chromosome 20 open reading frame 43 (C20orf43), mRNA.	122										breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	10			Colorectal(105;0.202)			TCATCTGCCCCGTTGTGGGCC	0.562000														35			9		0	0	0.000274275	0	0
OR2A2	442361	broad.mit.edu	37	7	143807135	143807135	+	Silent	SNP	C	T	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr7:143807135C>T	uc011ktz.2	+	0	460	c.460C>T	c.(460-462)Ctg>Ttg	p.L154L		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA.	154					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)					TGGGTTTGCCCTGTCCCTGGT	0.532000														71			33		0	0	0.00283554	0	0
DGKD	8527	broad.mit.edu	37	2	234343527	234343527	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr2:234343527C>T	uc002vui.1	+	4	578	c.566C>T	c.(565-567)tCg>tTg	p.S189L	DGKD_uc002vuj.1_Missense_Mutation_p.S145L|DGKD_uc010fyh.1_Missense_Mutation_p.S56L|DGKD_uc002vuk.1_Missense_Mutation_p.S56L	NM_152879	NP_690618	Q16760	DGKD_HUMAN	Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA.	189					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	GGGGTCACGTCGCACGGGCTG	0.552000														109			11		0	0	0.000422831	0	0
AQP2	359	broad.mit.edu	37	12	50344816	50344816	+	Missense_Mutation	SNP	A	C	C	rs104894331		TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr12:50344816A>C	uc001rvn.3	+	0	293	c.203A>C	c.(202-204)aAc>aCc	p.N68T		NM_000486	NP_000477	P41181	AQP2_HUMAN	Homo sapiens aquaporin 2 (collecting duct) (AQP2), mRNA.	68			N -> S (in ANDI).		cellular response to copper ion|cellular response to mercury ion|excretion	apical plasma membrane|integral to membrane|transport vesicle membrane	glycerol transmembrane transporter activity|water channel activity	p.N68T(4)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						GCCCACATCAACCCTGCCGTG	0.662000														24			7		0	0	0.00188189	0	0
SERAC1	84947	broad.mit.edu	37	6	158532443	158532443	+	Silent	SNP	A	T	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr6:158532443A>T	uc003qrc.2	-	16	2062	c.1920T>A	c.(1918-1920)acT>acA	p.T640T	SERAC1_uc003qrb.2_Silent_p.T368T	NM_032861	NP_116250	Q96JX3	SRAC1_HUMAN	Homo sapiens serine active site containing 1 (SERAC1), mRNA.	640					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		TGAATTGTAAAGTACGCTGGT	0.363000														47			6		0	0	0.00116845	0	0
OR2L3	391192	broad.mit.edu	37	1	248224427	248224427	+	Nonsense_Mutation	SNP	G	A	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr1:248224427G>A	uc001idx.1	+	0	444	c.444G>A	c.(442-444)tgG>tgA	p.W148*	OR2L13_uc001ids.3_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 3 (OR2L3), mRNA.	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W148*(2)|p.S147Y(1)		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)			CAGGGTCTTGGATCATAGGCT	0.433000														84			19		0	0	0.000958276	0	0
NXNL1	115861	broad.mit.edu	37	19	17571529	17571529	+	Silent	SNP	G	A	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr19:17571529G>A	uc002ngs.3	-	0	197	c.150C>T	c.(148-150)ttC>ttT	p.F50F		NM_138454	NP_612463	Q96CM4	NXNL1_HUMAN	Homo sapiens nucleoredoxin-like 1 (NXNL1), mRNA.	50	Thioredoxin.				cell redox homeostasis	nuclear outer membrane				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	6						GGATGGGCACGAAGGCCTGGC	0.617000														63			22		0	0	0.00278032	0	0
CWH43	80157	broad.mit.edu	37	4	49030703	49030703	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr4:49030703G>A	uc003gyv.3	+	9	1506	c.1324G>A	c.(1324-1326)Gaa>Aaa	p.E442K	CWH43_uc011bzl.2_Missense_Mutation_p.E415K	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	442					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						ATATGACAATGAAGGGTGGTC	0.413000														42			18		0	0	0.00278032	0	0
OR2L8	391190	broad.mit.edu	37	1	248112603	248112603	+	Nonsense_Mutation	SNP	G	A	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr1:248112603G>A	uc001idt.1	+	0	444	c.444G>A	c.(442-444)tgG>tgA	p.W148*	OR2L13_uc001ids.3_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 8 (OR2L8), mRNA.	148					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)			CAGGGTCTTGGATCATAGGCT	0.443000														241			12		0	0	0.000566183	0	0
OR10T2	128360	broad.mit.edu	37	1	158368507	158368507	+	Silent	SNP	G	A	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr1:158368507G>A	uc010pih.2	-	0	750	c.750C>T	c.(748-750)gtC>gtT	p.V250V		NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily T, member 2 (OR10T2), mRNA.	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					AGCCATAGTGGACAAAGACCA	0.512000														58			17		0	0	0.000566183	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	107462	107462	+	RNA	SNP	A	T	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chrGL000211.1:107462A>T	uc003boa.3	+	4		c.1002A>T								Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		GTAAGGGTCAATTTTTTATAT	0.294000														38			6		0	0	0.00198382	0	0
LRP1B	53353	broad.mit.edu	37	2	141643882	141643882	+	Silent	SNP	G	A	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr2:141643882G>A	uc002tvj.1	-	23	4761	c.3789C>T	c.(3787-3789)atC>atT	p.I1263I	LRP1B_uc010fnl.1_Silent_p.I445I	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1263					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GAATAGAAAAGATGATGAATG	0.303000										TSP Lung(27;0.18)				27			4		0	0	0.000602214	0	0
IREB2	3658	broad.mit.edu	37	15	78782786	78782786	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr15:78782786C>T	uc002bdr.2	+	16	2261	c.2099C>T	c.(2098-2100)tCc>tTc	p.S700F	IREB2_uc010unb.1_Missense_Mutation_p.S450F	NM_004136	NP_004127	P48200	IREB2_HUMAN	Homo sapiens iron-responsive element binding protein 2 (IREB2), mRNA.	700							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		CGGTGGAATTCCTTAGAAGCA	0.363000														47			13		0	0	0.00244969	0	0
ACSM1	116285	broad.mit.edu	37	16	20702464	20702464	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr16:20702464G>A	uc002dhm.1	-	0	115	c.47C>T	c.(46-48)tCc>tTc	p.S16F	ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Missense_Mutation_p.S16F	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	16					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GTTGTGGAAGGATTTGTGGAT	0.522000														183			43		0	0	0.00285205	0	0
LRRTM4	80059	broad.mit.edu	37	2	77745764	77745764	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr2:77745764G>A	uc002snr.3	-	2	1646	c.1231C>T	c.(1231-1233)Cct>Tct	p.P411S	LRRTM4_uc002snq.3_Missense_Mutation_p.P411S|LRRTM4_uc002sns.2_Missense_Mutation_p.P411S|LRRTM4_uc002snt.2_Missense_Mutation_p.P412S	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 4 (LRRTM4), transcript variant 1, mRNA.	411						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TCTGCGCCAGGAATCTGAAAC	0.483000														50			16		0	0	0.00074312	0	0
DCAF13	25879	broad.mit.edu	37	8	104427664	104427664	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr8:104427664G>A	uc003yln.3	+	0	723	c.446G>A	c.(445-447)aGa>aAa	p.R149K	SLC25A32_uc003yll.3_5'Flank|SLC25A32_uc011lhr.2_5'Flank|DCAF13_uc003ylm.1_5'UTR	NM_015420	NP_056235	Q9NV06	DCA13_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 13 (DCAF13), mRNA.	0					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex		p.R149K(2)		NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CCGGCCGGAAGAGCAACCGAG	0.562000														34			15		0	0	0.000308642	0	0
MYH2	4620	broad.mit.edu	37	17	10432012	10432012	+	Missense_Mutation	SNP	C	A	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr17:10432012C>A	uc010coi.3	-	26	3867	c.3739G>T	c.(3739-3741)Gcc>Tcc	p.A1247S	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.A1247S|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1247					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AGTACCTTGGCTTTGGAGACC	0.398000														98			24		2.44723e-14	9.70306e-14	0.000720815	1	0
C14orf39	317761	broad.mit.edu	37	14	60921813	60921814	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr14:60921813_60921814GG>AA	uc001xez.4	-	15	1518_1519	c.1408_1409CC>TT	c.(1408-1410)cct>TTt	p.P470F	C14orf39_uc010apo.3_Missense_Mutation_p.P181F	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN	Homo sapiens chromosome 14 open reading frame 39 (C14orf39), mRNA.	470										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		AGAAAGTCCAGGGGATTCCTTT	0.292000														71			21		0	0	6.4e-05	0	0
COL11A1	1301	broad.mit.edu	37	1	103491454	103491454	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr1:103491454C>T	uc001dum.3	-	5	1153	c.835G>A	c.(835-837)Gaa>Aaa	p.E279K	COL11A1_uc001duk.3_Intron|COL11A1_uc001dul.3_Intron|COL11A1_uc001dun.3_Intron|COL11A1_uc009weh.3_Intron	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	279	Nonhelical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTGGATTTTTCCTTTGATTTA	0.338000														95			22		0	0	0.00188189	0	0
PCLO	27445	broad.mit.edu	37	7	82585745	82585745	+	Silent	SNP	C	T	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr7:82585745C>T	uc003uhx.2	-	4	4813	c.4524G>A	c.(4522-4524)gaG>gaA	p.E1508E	PCLO_uc003uhv.2_Silent_p.E1508E	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1439					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.R1507K(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AATCATAAGGCTCTCTTCTAG	0.378000														55			10		0	0	0.000673444	0	0
SLC17A8	246213	broad.mit.edu	37	12	100787176	100787176	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr12:100787176C>T	uc010svi.2	+	3	816	c.503C>T	c.(502-504)tCg>tTg	p.S168L	SLC17A8_uc009ztx.3_Missense_Mutation_p.S168L	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 (SLC17A8), transcript variant 1, mRNA.	168					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TTCTTAACATCGACTCTGAAC	0.478000														46			18		0	0	0.000566183	0	0
MST1P2	11209	broad.mit.edu	37	1	16974511	16974511	+	RNA	SNP	G	A	A	rs58679574	by1000genomes	TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr1:16974511G>A	uc009vow.2	+	4		c.1321G>A			MST1P2_uc010ocg.1_Non-coding_Transcript|MST1P2_uc010och.2_Non-coding_Transcript|MST1P2_uc010oci.1_Non-coding_Transcript|MST1P2_uc001azk.2_Non-coding_Transcript|MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		GGGTAGTCACGGGCTTAGGGC	0.652000														76			8		0	0	0.000274275	0	0
COL22A1	169044	broad.mit.edu	37	8	139601587	139601588	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr8:139601587_139601588CC>TT	uc003yvd.3	-	64	5236_5237	c.4789_4790GG>AA	c.(4789-4791)gga>AAa	p.G1597K	COL22A1_uc011ljo.2_Missense_Mutation_p.G877K	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	1597	Collagen-like 16.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			ACCGGGAGGTCCTGGGAGGCCA	0.629000										HNSCC(7;0.00092)				35			6		0	0	6.4e-05	0	0
NEDD9	4739	broad.mit.edu	37	6	11213611	11213611	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr6:11213611G>A	uc003mzv.2	-	1	529	c.362C>T	c.(361-363)cCc>cTc	p.P121L	NEDD9_uc010joz.2_Missense_Mutation_p.P121L|NEDD9_uc003mzw.3_5'UTR|NEDD9_uc003mzx.3_Missense_Mutation_p.P121L	NM_006403	NP_006394	Q14511	CASL_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 9 (NEDD9), transcript variant 1, mRNA.	121	Interacts strongly with spindle- regulatory protein D1M1.				actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	Golgi apparatus|cell cortex|focal adhesion|lamellipodium|nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			GTGGCCAGTGGGGACTTGGTA	0.542000														88			31		0	0	0.001512	0	0
SSPO	23145	broad.mit.edu	37	7	149509388	149509388	+	Silent	SNP	C	T	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr7:149509388C>T	uc010lpk.3	+	68	9777	c.9777C>T	c.(9775-9777)tcC>tcT	p.S3259S		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	3262	TSP type-1 12.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGCCCTGGTCCCACTGTAGCC	0.716000														19			6		0	0	0.000274275	0	0
MYLK4	340156	broad.mit.edu	37	6	2685552	2685552	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr6:2685552C>T	uc003mty.4	-	5	820	c.523G>A	c.(523-525)Gac>Aac	p.D175N		NM_001012418	NP_001012418	Q86YV6	MYLK4_HUMAN	Homo sapiens myosin light chain kinase family, member 4 (MYLK4), mRNA.	175	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				AGGACAATGTCGTTCTTAGAC	0.577000														103			28		0	0	0.00283554	0	0
POU2F1	5451	broad.mit.edu	37	1	167339406	167339406	+	Silent	SNP	C	T	T	rs34899926	byFrequency	TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr1:167339406C>T	uc001gec.3	+	4	407	c.168C>T	c.(166-168)ctC>ctT	p.L56L	POU2F1_uc010plg.2_Non-coding_Transcript|POU2F1_uc001gee.3_Silent_p.L79L|POU2F1_uc010plh.2_Silent_p.L79L|POU2F1_uc001ged.3_Silent_p.L54L|POU2F1_uc001gef.3_Silent_p.L68L|POU2F1_uc001geg.3_5'Flank	NM_001198783	NP_001185712	P14859	PO2F1_HUMAN	Homo sapiens POU class 2 homeobox 1 (POU2F1), transcript variant 2, mRNA.	56					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						AGGTCCAACTCGCTGGAACAA	0.378000														46			18		0	0	0.00152264	0	0
OR52R1	119695	broad.mit.edu	37	11	4824685	4824685	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr11:4824685C>T	uc021qcs.1	-	0	926	c.926G>A	c.(925-927)gGa>gAa	p.G309E		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily R, member 1 (OR52R1), mRNA.	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCCACAACATCCTTGGATAAC	0.448000														40			17		0	0	0.000566183	0	0
IGH	0	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	C	C			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr16:32070612A>C	uc002ecv.1	+	0		c.65A>C								Homo sapiens IGH mRNA for immunoglobulin heavy chain VHDJ region, partial cds, clone:H233.																		GGTCTCCTGCAAGGCTTCTGG	0.552000														54			6		0	0	0.00198382	0	0
ZNF518B	85460	broad.mit.edu	37	4	10447404	10447404	+	Silent	SNP	T	C	C			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr4:10447404T>C	uc003gmn.3	-	2	1036	c.549A>G	c.(547-549)aaA>aaG	p.K183K	ZNF518B_uc021xme.1_Silent_p.K183K	NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	Homo sapiens zinc finger protein 518B (ZNF518B), mRNA.	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TGCCTGTGTGTTTCACCAAAT	0.388000														83			37		0	0	0.000953801	0	0
OR10W1	81341	broad.mit.edu	37	11	58035171	58035171	+	Silent	SNP	G	A	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr11:58035171G>A	uc001nmq.1	-	0	562	c.160C>T	c.(160-162)Ctg>Ttg	p.L54L		NM_207374	NP_997257	Q8NGF6	O10W1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily W, member 1 (OR10W1), mRNA.	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				AGGCTGCCCAGGAAATAGTAC	0.493000														46			17		0	0	0.00074312	0	0
LCK	3932	broad.mit.edu	37	1	32742228	32742228	+	Missense_Mutation	SNP	A	G	G			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr1:32742228A>G	uc001bux.3	+	8	943	c.805A>G	c.(805-807)Aag>Gag	p.K269E	LCK_uc001buy.3_Missense_Mutation_p.K269E|LCK_uc001buz.3_Missense_Mutation_p.K269E|LCK_uc010ohc.1_Missense_Mutation_p.K313E|LCK_uc001bva.3_Missense_Mutation_p.K276E	NM_005356	NP_005347	P06239	LCK_HUMAN	Homo sapiens lymphocyte-specific protein tyrosine kinase (LCK), transcript variant 2, mRNA.	269	Protein kinase.				T cell costimulation|T cell differentiation|T cell receptor signaling pathway|activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|viral reproduction	Golgi apparatus|cytosol|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|SH2 domain binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity	p.K269K(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	CGGGCACACGAAGGTGGCGGT	0.647000			T	TRB@	T-ALL									84			4		0	0	0.00116845	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882578	228882578	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr2:228882578G>A	uc002vpq.2	-	6	3039	c.2992C>T	c.(2992-2994)Ccc>Tcc	p.P998S	SPHKAP_uc002vpp.2_Missense_Mutation_p.P998S|SPHKAP_uc010zlx.1_Missense_Mutation_p.P998S	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	998						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)		CTGAGCCGGGGAGGCTTGTGT	0.532000														54			13		0	0	0.000308642	0	0
RYR3	6263	broad.mit.edu	37	15	33955848	33955848	+	Silent	SNP	C	T	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr15:33955848C>T	uc001zhi.3	+	35	5599	c.5529C>T	c.(5527-5529)ttC>ttT	p.F1843F	RYR3_uc010bar.3_Silent_p.F1843F	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	1843	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATCAGAAGTTCCGCTACAATG	0.572000														17			4		0	0	0.00024832	0	0
PEX1	5189	broad.mit.edu	37	7	92132403	92132403	+	Missense_Mutation	SNP	T	G	G			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr7:92132403T>G	uc003uly.3	-	12	2274	c.2178A>C	c.(2176-2178)caA>caC	p.Q726H	PEX1_uc011khr.2_Missense_Mutation_p.Q518H|PEX1_uc010ley.3_Missense_Mutation_p.Q669H|PEX1_uc011khs.2_Missense_Mutation_p.Q404H|PEX1_uc011kht.1_Non-coding_Transcript	NM_000466	NP_000457	O43933	PEX1_HUMAN	Homo sapiens peroxisomal biogenesis factor 1 (PEX1), mRNA.	726					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TGTGAACTCCTTGAGCAGAAA	0.368000														30			14		0	0	0.00244969	0	0
HDC	3067	broad.mit.edu	37	15	50534764	50534764	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr15:50534764G>A	uc001zxz.3	-	11	2024	c.1682C>T	c.(1681-1683)aCc>aTc	p.T561I	HDC_uc001zxy.3_Missense_Mutation_p.T304I|HDC_uc010uff.2_Missense_Mutation_p.T528I	NM_002112	NP_002103	P19113	DCHS_HUMAN	Homo sapiens histidine decarboxylase (HDC), mRNA.	561					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	CTTGTGCTTGGTGGCATCTGG	0.537000														94			17		0	0	0.000422831	0	0
HIVEP3	59269	broad.mit.edu	37	1	42047174	42047174	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr1:42047174G>A	uc001cgz.4	-	3	4508	c.3295C>T	c.(3295-3297)Ccg>Tcg	p.P1099S	HIVEP3_uc001cha.4_Missense_Mutation_p.P1099S|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	1099					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TTGCCTCCCGGGGGTCCACCA	0.612000														63			23		0	0	0.00229938	0	0
CARD8	22900	broad.mit.edu	37	19	48715042	48715042	+	Silent	SNP	G	A	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr19:48715042G>A	uc010xzj.2	-	10	1582	c.1539C>T	c.(1537-1539)gcC>gcT	p.A513A	CARD8_uc002pii.4_3'UTR|CARD8_uc002pid.1_Intron|CARD8_uc010xzi.1_Intron|CARD8_uc010els.3_3'UTR|CARD8_uc010xzk.2_Silent_p.A432A|CARD8_uc002pie.4_Silent_p.A407A|CARD8_uc002pif.4_3'UTR|CARD8_uc021uwq.1_Silent_p.A407A|CARD8_uc021uwr.1_3'UTR|CARD8_uc002pig.4_Silent_p.A238A|CARD8_uc002pih.4_Silent_p.A463A|CARD8_uc010xzl.2_Silent_p.A463A|CARD8_uc010xzm.2_3'UTR	NM_001184900	NP_001171829	Q9Y2G2	CARD8_HUMAN	Homo sapiens caspase recruitment domain family, member 8 (CARD8), transcript variant 1, mRNA.	407					negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	NACHT domain binding|caspase activator activity|protein homodimerization activity			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		GCACGTCCAGGGCCAGGTCCC	0.488000														180			35		0	0	0.00111076	0	0
ITGA8	8516	broad.mit.edu	37	10	15688978	15688978	+	Silent	SNP	C	T	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr10:15688978C>T	uc001ioc.1	-	11	1074	c.1074G>A	c.(1072-1074)ggG>ggA	p.G358G	ITGA8_uc010qcb.1_Silent_p.G343G	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	358					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GGTAGATTTGCCCTACTTCTC	0.507000														56			14		0	0	0.000308642	0	0
SLC29A2	3177	broad.mit.edu	37	11	66136997	66136997	+	Nonsense_Mutation	SNP	G	A	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr11:66136997G>A	uc001oht.3	-	2	347	c.118C>T	c.(118-120)Cag>Tag	p.Q40*	SLC29A2_uc009yrf.3_5'UTR|SLC29A2_uc001ohu.3_Nonsense_Mutation_p.Q40*|SLC29A2_uc001ohv.3_Nonsense_Mutation_p.Q40*|AX747485_uc001ohw.1_Non-coding_Transcript	NM_001532	NP_001523	Q14542	S29A2_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 2 (SLC29A2), mRNA.	40					cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity			breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						AGTCGCGCCTGGAAGTACTGC	0.617000														101			31		0	0	0.00058488	0	0
ZNF229	7772	broad.mit.edu	37	19	44934304	44934304	+	Missense_Mutation	SNP	C	T	T	rs146515421	by1000genomes	TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr19:44934304C>T	uc002oze.1	-	5	1086	c.652G>A	c.(652-654)Gat>Aat	p.D218N	ZNF229_uc010ejk.1_5'UTR|ZNF229_uc010ejl.1_Missense_Mutation_p.D212N	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	218					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				CTGTCATCATCCCAGTTACAT	0.393000														74			14		0	0	0.00185496	0	0
MYH4	4622	broad.mit.edu	37	17	10359836	10359836	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr17:10359836C>T	uc002gmn.3	-	16	2045	c.1934G>A	c.(1933-1935)gGt>gAt	p.G645D	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	645	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.K644R(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GAAAGAAGAACCCTTCTTTTT	0.328000														66			8		0	0	0.000274275	0	0
PTPRT	11122	broad.mit.edu	37	20	41306677	41306677	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr20:41306677G>A	uc002xkg.3	-	6	1166	c.982C>T	c.(982-984)Cgc>Tgc	p.R328C	PTPRT_uc010ggj.3_Missense_Mutation_p.R328C	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	328	Fibronectin type-III 1.				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	p.R328C(2)		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)				GTGGTGGTGCGATATTCCACT	0.562000														64			48		0	0	0.000781405	0	0
HTR3A	3359	broad.mit.edu	37	11	113848577	113848577	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr11:113848577C>T	uc010rxb.2	+	1	403	c.170C>T	c.(169-171)cCc>cTc	p.P57L	HTR3A_uc010rxa.2_Missense_Mutation_p.P57L|HTR3A_uc009yyx.3_Non-coding_Transcript|HTR3A_uc010rxc.2_Missense_Mutation_p.P36L	NM_213621	NP_998786	P46098	5HT3A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA.	51					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	GGTGTGCGCCCCGTGAGGGAC	0.592000														50			16		0	0	0.00074312	0	0
CDC16	8881	broad.mit.edu	37	13	115002333	115002333	+	Missense_Mutation	SNP	A	G	G			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr13:115002333A>G	uc001vuk.1	+	2	361	c.163A>G	c.(163-165)Aga>Gga	p.R55G	CDC16_uc010tkm.1_Missense_Mutation_p.R55G|CDC16_uc001vul.1_Missense_Mutation_p.R55G|CDC16_uc001vum.1_5'UTR|CDC16_uc001vun.1_Missense_Mutation_p.R54G|CDC16_uc001vuo.1_Missense_Mutation_p.R54G	NM_003903	NP_003894	Q13042	CDC16_HUMAN	Homo sapiens cell division cycle 16 homolog (S. cerevisiae) (CDC16), transcript variant 1, mRNA.	55					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|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|centrosome|cytosol|nucleoplasm|spindle microtubule	binding			endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			ACAATATCACAGAGCCGCCCA	0.438000														50			19		0	0	0.00074312	0	0
MPP2	4355	broad.mit.edu	37	17	41958897	41958897	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr17:41958897C>T	uc010win.1	-	5	928	c.325G>A	c.(325-327)Gaa>Aaa	p.E109K	MPP2_uc002ien.1_Missense_Mutation_p.E265K|MPP2_uc010wim.1_Missense_Mutation_p.E237K|MPP2_uc002ieo.1_Missense_Mutation_p.E248K|MPP2_uc010wio.1_Missense_Mutation_p.E237K|MPP2_uc010wip.1_Missense_Mutation_p.E293K			Q14168	MPP2_HUMAN	Homo sapiens membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2) (MPP2), mRNA.	272	L27 2.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		AGGCCTGCTTCCTTGCAGGGG	0.602000														48			16		0	0	0.000566183	0	0
CYP2C8	1558	broad.mit.edu	37	10	96805591	96805591	+	Silent	SNP	G	A	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr10:96805591G>A	uc001kkb.3	-	5	1032	c.937C>T	c.(937-939)Ctg>Ttg	p.L313L	CYP2C8_uc010qoa.2_Silent_p.L243L|CYP2C8_uc010qoc.2_Silent_p.L211L|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_Silent_p.L227L|CYP2C8_uc021pwl.1_Silent_p.L243L|CYP2C8_uc010qod.1_Silent_p.L227L	NM_000770	NP_000761	P10632	CP2C8_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	313					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	TGCTTCAGCAGGAGCAGGAGT	0.453000														69			19		0	0	0.00047179	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					51			32		0	0	0.00283554	0	0
CDH5	1003	broad.mit.edu	37	16	66424357	66424357	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr16:66424357G>A	uc002eom.4	+	5	989	c.833G>A	c.(832-834)gGc>gAc	p.G278D	CDH5_uc002eon.1_Missense_Mutation_p.G278D	NM_001795	NP_001786	P33151	CADH5_HUMAN	Homo sapiens cadherin 5, type 2 (vascular endothelium) (CDH5), mRNA.	278	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		ACCTCTGTGGGCTCTCTGTTT	0.532000														42			9		0	0	0.000673444	0	0
SUPT5H	6829	broad.mit.edu	37	19	39963882	39963882	+	Silent	SNP	G	C	C			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr19:39963882G>C	uc002olo.4	+	23	2477	c.2298G>C	c.(2296-2298)ggG>ggC	p.G766G	SUPT5H_uc002olp.4_Silent_p.G766G|SUPT5H_uc002olq.4_Silent_p.G762G|SUPT5H_uc002oln.4_Silent_p.G766G|SUPT5H_uc002olr.4_Silent_p.G766G|SUPT5H_uc002ols.1_Silent_p.G389G|SUPT5H_uc010egp.1_Missense_Mutation_p.E132Q	NM_001111020	NP_003160	O00267	SPT5H_HUMAN	Homo sapiens suppressor of Ty 5 homolog (S. cerevisiae) (SUPT5H), transcript variant 2, mRNA.	766	9 X 7 AA approximate tandem repeats of G- S-[QR]-T-P-X-[YQ], motif CTR1.				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)			CGACCTATGGGAGGACGCCCA	0.652000														34			17		0	0	0.00074312	0	0
PBXIP1	57326	broad.mit.edu	37	1	154919984	154919984	+	Missense_Mutation	SNP	T	C	C			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr1:154919984T>C	uc001ffr.3	-	8	838	c.779A>G	c.(778-780)gAc>gGc	p.D260G	PBXIP1_uc001ffs.3_Missense_Mutation_p.D231G|PBXIP1_uc010pep.2_Missense_Mutation_p.D105G	NM_020524	NP_065385	Q96AQ6	PBIP1_HUMAN	Homo sapiens pre-B-cell leukemia homeobox interacting protein 1 (PBXIP1), mRNA.	260					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGGGACACTGTCAGGAGGCAC	0.622000														84			18		0	0	0.00121646	0	0
CPSF4	10898	broad.mit.edu	37	7	99042437	99042437	+	Silent	SNP	C	T	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr7:99042437C>T	uc003uqj.3	+	1	272	c.129C>T	c.(127-129)ttC>ttT	p.F43F	ATP5J2-PTCD1_uc011kiw.2_Intron|CPSF4_uc003uqi.3_Silent_p.F43F|CPSF4_uc003uqk.3_Silent_p.F43F|CPSF4_uc011kix.2_5'UTR	NM_006693	NP_006684	O95639	CPSF4_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 4, 30kDa (CPSF4), transcript variant 1, mRNA.	43					mRNA processing|modification by virus of host mRNA processing|viral infectious cycle	mRNA cleavage and polyadenylation specificity factor complex	RNA binding|zinc ion binding	p.F43L(2)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TCTGTGAATTCTTTTTGAAAG	0.542000														231			43		0	0	0.000781405	0	0
DRD1	1812	broad.mit.edu	37	5	174868977	174868977	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr5:174868977C>T	uc003mcz.3	-	1	2071	c.1126G>A	c.(1126-1128)Gag>Aag	p.E376K	DRD1_uc021yia.1_Missense_Mutation_p.E376K	NM_000794	NP_000785	P21728	DRD1_HUMAN	Homo sapiens dopamine receptor D1 (DRD1), mRNA.	376					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)	CCTCGTGGCTCATGATGGCTG	0.522000														93			29		0	0	0.001512	0	0
PKHD1	5314	broad.mit.edu	37	6	51913356	51913356	+	Nonsense_Mutation	SNP	G	A	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr6:51913356G>A	uc003pah.1	-	22	2617	c.2341C>T	c.(2341-2343)Cga>Tga	p.R781*	PKHD1_uc003pai.3_Nonsense_Mutation_p.R781*	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	781					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GTCCGCTGTCGTCTCTGTGTC	0.507000														84			13		0	0	0.00136819	0	0
CERS2	29956	broad.mit.edu	37	1	150940901	150940901	+	Silent	SNP	G	A	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr1:150940901G>A	uc001evy.3	-	2	687	c.261C>T	c.(259-261)ttC>ttT	p.F87F	CERS2_uc001evz.3_Silent_p.F87F|CERS2_uc009wmh.3_5'UTR	NM_181746	NP_859530	Q96G23	CERS2_HUMAN	Homo sapiens ceramide synthase 2 (CERS2), transcript variant 1, mRNA.	87						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										TGGTCAGGTAGAAATGTTCCA	0.567000														33			16		0	0	0.000308642	0	0
GLIS3	169792	broad.mit.edu	37	9	4118392	4118392	+	Silent	SNP	C	T	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr9:4118392C>T	uc003zhx.1	-	3	1799	c.1086G>A	c.(1084-1086)ccG>ccA	p.P362P	GLIS3_uc003zic.1_Silent_p.P362P|GLIS3_uc003zie.1_Silent_p.P362P|GLIS3_uc010mhh.1_Silent_p.P237P|GLIS3_uc003zid.1_Silent_p.P140P|GLIS3_uc010mhi.1_Silent_p.P169P|GLIS3_uc003zif.1_Silent_p.P140P|GLIS3_uc003zih.1_Silent_p.P140P|GLIS3_uc003zig.1_Silent_p.P206P|GLIS3_uc003zhw.1_Silent_p.P207P|GLIS3_uc003zhy.1_Silent_p.P140P|GLIS3_uc003zhz.1_Silent_p.P140P|GLIS3_uc003zib.1_Silent_p.P206P|GLIS3_uc010mhg.1_Silent_p.P140P	NM_001042413	NP_001035878	Q8NEA6	GLIS3_HUMAN	Homo sapiens GLIS family zinc finger 3 (GLIS3), transcript variant 1, mRNA.	207					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GCACCGGGCGCGGCTGGGGAA	0.736000														8			4		0	0	0.00024832	0	0
abParts	0	broad.mit.edu	37	22	22663086	22663087	+	RNA	DNP	TA	GG	GG	rs1054158	by1000genomes	TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr22:22663086_22663087TA>GG	uc021wml.1	+	30		c.2444_2445TA>GG			abParts_uc011aiq.1_Non-coding_Transcript|abParts_uc011aip.2_Non-coding_Transcript|abParts_uc010gto.3_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		AGCTGCCACATAAGTTGTCCTT	0.302000														39			6		0	0	6.4e-05	0	0
TTC23	64927	broad.mit.edu	37	15	99758900	99758900	+	Silent	SNP	C	T	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr15:99758900C>T	uc002bur.3	-	6	1005	c.474G>A	c.(472-474)gaG>gaA	p.E158E	TTC23_uc002bus.3_Silent_p.E158E|TTC23_uc002but.3_Silent_p.E158E|TTC23_uc002buu.3_Silent_p.E158E|TTC23_uc002buv.3_Silent_p.E158E|TTC23_uc002bux.3_Silent_p.E158E|TTC23_uc002buw.3_Silent_p.E158E|TTC23_uc010boq.3_Non-coding_Transcript|TTC23_uc002buy.3_Silent_p.E158E|TTC23_uc010bor.3_Silent_p.E158E|TTC23_uc002buz.2_Silent_p.E158E	NM_022905	NP_075056	Q5W5X9	TTC23_HUMAN	Homo sapiens tetratricopeptide repeat domain 23 (TTC23), transcript variant 2, mRNA.	158							binding			endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			TTGTCAAATTCTCTGCAGCTT	0.393000														147			33		0	0	0.00283554	0	0
PVRL4	81607	broad.mit.edu	37	1	161043573	161043573	+	Silent	SNP	C	T	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr1:161043573C>T	uc001fxo.2	-	6	1469	c.1170G>A	c.(1168-1170)ctG>ctA	p.L390L	PVRL4_uc010pjy.1_Silent_p.L69L|PVRL4_uc010pjz.1_Silent_p.L124L	NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	Homo sapiens poliovirus receptor-related 4 (PVRL4), mRNA.	390					adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TGGTCAGGGTCAGCTCCTCCT	0.607000														50			6		0	0	0.00116845	0	0
CSF3	1440	broad.mit.edu	37	17	38172816	38172816	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr17:38172816G>A	uc002htp.3	+	3	505	c.391G>A	c.(391-393)Gag>Aag	p.E131K	CSF3_uc002hto.3_Missense_Mutation_p.E128K|CSF3_uc002htq.3_Missense_Mutation_p.E124K|CSF3_uc021tww.1_Missense_Mutation_p.E92K|CSF3_uc021twx.1_Missense_Mutation_p.E95K|CSF3_uc010wep.2_Missense_Mutation_p.E88K	NM_000759	NP_000750	P09919	CSF3_HUMAN	Homo sapiens colony stimulating factor 3 (granulocyte) (CSF3), transcript variant 1, mRNA.	131					cytokine-mediated signaling pathway|granulocyte differentiation|immune response|positive regulation of cell proliferation	extracellular space	cytokine activity|enzyme binding|granulocyte colony-stimulating factor receptor binding|growth factor activity			endometrium(1)|ovary(1)|prostate(1)	3	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GATCTCCCCCGAGTTGGGTCC	0.627000														85			24		0	0	0.00278032	0	0
RERE	473	broad.mit.edu	37	1	8418587	8418587	+	Silent	SNP	G	A	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr1:8418587G>A	uc001ape.3	-	20	4818	c.4008C>T	c.(4006-4008)ccC>ccT	p.P1336P	RERE_uc001apf.3_Silent_p.P1336P|RERE_uc001apd.3_Silent_p.P782P	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	1336					NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CTGGGTGCAGGGGGTCCAGCT	0.697000														16			4		0	0	0.000602214	0	0
LDLRAP1	26119	broad.mit.edu	37	1	25883675	25883675	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr1:25883675G>A	uc001bkl.4	+	3	490	c.376G>A	c.(376-378)Gac>Aac	p.D126N		NM_015627	NP_056442	Q5SW96	ARH_HUMAN	Homo sapiens low density lipoprotein receptor adaptor protein 1 (LDLRAP1), mRNA.	126	PID.				amyloid precursor protein metabolic process|cholesterol homeostasis|cholesterol metabolic process|positive regulation of receptor-mediated endocytosis|receptor internalization|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport|regulation of establishment of protein localization in plasma membrane|regulation of protein binding	basal plasma membrane|cytosol|early endosome|internal side of plasma membrane|neurofilament|recycling endosome	beta-amyloid binding|clathrin binding|low-density lipoprotein particle receptor binding|phosphatidylinositol-4,5-bisphosphate binding|phosphotyrosine binding|protein binding, bridging|protein complex binding|receptor signaling complex scaffold activity|signaling adaptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)		CAAGATGCACGACAAGGTGTT	0.592000														49			20		0	0	0.00188189	0	0
ZNF121	7675	broad.mit.edu	37	19	9677580	9677580	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr19:9677580G>A	uc010xkp.1	-	3	441	c.209C>T	c.(208-210)gCc>gTc	p.A70V	ZNF121_uc010dwt.2_Missense_Mutation_p.A70V|ZNF121_uc010xkq.1_Missense_Mutation_p.A70V	NM_001008727	NP_001008727	P58317	ZN121_HUMAN	Homo sapiens zinc finger protein 121 (ZNF121), mRNA.	70					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(4)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	24						CAGGCTGAAGGCTTTTCTGCA	0.448000														50			15		0	0	0.000422831	0	0
MUC16	94025	broad.mit.edu	37	19	9059447	9059447	+	Silent	SNP	G	A	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr19:9059447G>A	uc002mkp.3	-	2	28203	c.27999C>T	c.(27997-27999)atC>atT	p.I9333I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9335	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						CAGGGCCTGGGATGGATGTTC	0.498000														113			31		0	0	0.0024448	0	0
GRM3	2913	broad.mit.edu	37	7	86416374	86416374	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr7:86416374G>A	uc003uid.3	+	2	2365	c.1266G>A	c.(1264-1266)atG>atA	p.M422I	GRM3_uc010lef.3_Missense_Mutation_p.M420I|GRM3_uc010leg.3_Missense_Mutation_p.M294I|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	422					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GTGATGCTATGAAGATCCTGG	0.463000														131			58		0	0	0.000781405	0	0
C15orf42	90381	broad.mit.edu	37	15	90137712	90137712	+	Silent	SNP	C	T	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr15:90137712C>T	uc002boe.3	+	5	1608	c.1608C>T	c.(1606-1608)tgC>tgT	p.C536C	C15orf42_uc021sug.1_Silent_p.C535C	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	Homo sapiens chromosome 15 open reading frame 42 (C15orf42), mRNA.	536					DNA repair|DNA replication|G2/M transition checkpoint|cell cycle|formation of translation preinitiation complex|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			NS(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(21)|ovary(6)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	59	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			TAATACATTGCCTTGCCGAGC	0.403000														55			12		0	0	0.000978159	0	0
APOB	338	broad.mit.edu	37	2	21231015	21231015	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr2:21231015C>T	uc002red.3	-	25	8853	c.8725G>A	c.(8725-8727)Gag>Aag	p.E2909K		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2909					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)	GTCTTGATCTCGTTGCGCAGG	0.468000														378			136		0	0	0.000781405	0	0
PPP1R13B	23368	broad.mit.edu	37	14	104263804	104263804	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr14:104263804G>A	uc001yof.1	-	1	344	c.61C>T	c.(61-63)Cct>Tct	p.P21S	PPP1R13B_uc001yog.1_5'UTR	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 13B (PPP1R13B), mRNA.	21					apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				GGTGTTATAGGAACTTCTGTT	0.378000														39			4		0	0	0.00024832	0	0
ACSM2B	348158	broad.mit.edu	37	16	20575994	20575994	+	Silent	SNP	C	T	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr16:20575994C>T	uc002dhj.4	-	2	384	c.174G>A	c.(172-174)gaG>gaA	p.E58E	ACSM2B_uc002dhk.4_Silent_p.E58E|ACSM2B_uc010bwf.1_Silent_p.E58E	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.	58					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						CCATTACCTTCTCCATGTCAG	0.408000														24			7		0	0	0.000157383	0	0
RNF169	254225	broad.mit.edu	37	11	74545777	74545777	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr11:74545777G>A	uc001ovl.4	+	4	912	c.899G>A	c.(898-900)aGa>aAa	p.R300K	XRRA1_uc001ovm.2_Intron	NM_001098638	NP_001092108	Q8NCN4	RN169_HUMAN	Homo sapiens ring finger protein 169 (RNF169), mRNA.	300							zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						GCCCAGGAAAGAGCGAAGAGC	0.493000														30			15		0	0	0.000566183	0	0
PTEN	5728	broad.mit.edu	37	10	89653814	89653815	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr10:89653814_89653815CC>TT	uc001kfb.3	+	1	1144_1145	c.112_113CC>TT	c.(112-114)cct>TTt	p.P38F	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	38	Phosphatase tensin-type.				T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.P38S(11)|p.?(8)|p.P38R(2)|p.Y27fs*1(2)|p.F37S(2)|p.Y27_N212>Y(2)|p.P38L(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TATGGGATTTCCTGCAGAAAGA	0.287000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				26			11		0	0	6.4e-05	0	0
FRG1B	284802	broad.mit.edu	37	20	29625892	29625892	+	Missense_Mutation	SNP	T	C	C			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr20:29625892T>C	uc010ztl.1	+	1	78	c.46T>C	c.(46-48)Tat>Cat	p.Y16H	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.P15P(1)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAATCTGGCTATGGAAAATA	0.348000														73			6		0	0	0.00116845	0	0
GARNL3	84253	broad.mit.edu	37	9	130117744	130117744	+	Missense_Mutation	SNP	A	G	G			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr9:130117744A>G	uc011mae.2	+	19	2329	c.1928A>G	c.(1927-1929)tAc>tGc	p.Y643C	GARNL3_uc011mad.2_Missense_Mutation_p.Y621C|GARNL3_uc010mxi.3_5'UTR	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN	Homo sapiens GTPase activating Rap/RanGAP domain-like 3 (GARNL3), mRNA.	643	CNH.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						GAATTCCAGTACATCAGGGTA	0.458000														213			32		0	0	0.00178596	0	0
LMTK3	114783	broad.mit.edu	37	19	49012169	49012169	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr19:49012169G>A	uc002pjk.3	-	5	583	c.583C>T	c.(583-585)Ctc>Ttc	p.L195F		NM_001080434	NP_001073903			Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA.											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CTGGCTCGGAGCTCCTTCACC	0.617000														66			17		0	0	0.000958276	0	0
MET	4233	broad.mit.edu	37	7	116380061	116380061	+	Missense_Mutation	SNP	C	A	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr7:116380061C>A	uc003vij.3	+	3	1637	c.1450C>A	c.(1450-1452)Cat>Aat	p.H484N	MET_uc022akk.1_Missense_Mutation_p.H484N|MET_uc010lkh.3_Missense_Mutation_p.H484N|MET_uc011knc.1_Missense_Mutation_p.H484N|MET_uc011knd.2_Missense_Mutation_p.H484N|MET_uc011knf.2_Missense_Mutation_p.H484N|MET_uc011kne.2_Missense_Mutation_p.H484N|MET_uc011kng.1_Missense_Mutation_p.H484N|MET_uc011knh.1_Missense_Mutation_p.H484N|MET_uc011kni.2_Missense_Mutation_p.H484N|MET_uc011knj.2_Missense_Mutation_p.H54N|MET_uc011kna.1_Missense_Mutation_p.H484N|MET_uc011knb.1_Missense_Mutation_p.H484N	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	484	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CCTGGACTCCCATCCAGTGTC	0.433000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)					144			7		0.00198382	0.00768588	0.00198382	1	0
COPB2	9276	broad.mit.edu	37	3	139087108	139087108	+	Missense_Mutation	SNP	T	C	C			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr3:139087108T>C	uc003etf.4	-	12	1554	c.1424A>G	c.(1423-1425)gAg>gGg	p.E475G	COPB2_uc011bmv.2_Missense_Mutation_p.E446G|COPB2_uc010hui.3_Missense_Mutation_p.E446G	NM_004766	NP_004757	P35606	COPB2_HUMAN	Homo sapiens coatomer protein complex, subunit beta 2 (beta prime) (COPB2), transcript variant 1, mRNA.	475					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						ACAGACTAGCTCTCCAGAGTC	0.383000														28			15		0	0	0.000422831	0	0
GRIP2	80852	broad.mit.edu	37	3	14549195	14549195	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr3:14549195G>A	uc021wtn.1	-	19	2380	c.2380C>T	c.(2380-2382)Cac>Tac	p.H794Y	GRIP2_uc010heh.3_Non-coding_Transcript	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA.	698					synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						TCCCCCACGTGGATGGCACCA	0.627000														36			6		0	0	0.00198382	0	0
PADI1	29943	broad.mit.edu	37	1	17548845	17548845	+	Silent	SNP	C	T	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr1:17548845C>T	uc001bah.1	+	1	245	c.153C>T	c.(151-153)ttC>ttT	p.F51F		NM_013358	NP_037490	Q9ULC6	PADI1_HUMAN	Homo sapiens peptidyl arginine deiminase, type I (PADI1), mRNA.	51					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	TGGAGGTCTTCATGGTCTACA	0.567000														97			31		0	0	0.00178596	0	0
DNAH5	1767	broad.mit.edu	37	5	13719075	13719075	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr5:13719075G>A	uc003jfd.2	-	71	12457	c.12415C>T	c.(12415-12417)Ccc>Tcc	p.P4139S	DNAH5_uc003jfc.2_Missense_Mutation_p.P307S	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4139	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.P4139S(2)		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)					AGTGTAATGGGAAACTGCTTA	0.453000									Kartagener syndrome					78			30		0	0	0.00178596	0	0
SPTA1	6708	broad.mit.edu	37	1	158650408	158650408	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr1:158650408C>T	uc001fst.1	-	4	842	c.643G>A	c.(643-645)Gtt>Att	p.V215I		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	215					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTCACTTCAACAACTCTCCCT	0.468000														104			44		0	0	0.000781405	0	0
DSCR10	259234	broad.mit.edu	37	21	39580553	39580553	+	RNA	SNP	G	A	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr21:39580553G>A	uc010gnt.2	+	2		c.675G>A								Homo sapiens Down syndrome critical region gene 10 (non-protein coding) (DSCR10), non-coding RNA.																		GTTTGCCATCGAAGGAAAACC	0.403000														194			57		0	0	0.000781405	0	0
OR1S2	219958	broad.mit.edu	37	11	57971240	57971240	+	Silent	SNP	C	T	T	rs145253819		TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr11:57971240C>T	uc010rkb.2	-	0	414	c.414G>A	c.(412-414)gcG>gcA	p.A138A		NM_001004459	NP_001004459	Q8NGQ3	OR1S2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily S, member 2 (OR1S2), mRNA.	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				GGTGGCAGATCGCCACAAAGT	0.463000														60			29		0	0	0.00127121	0	0
IKBIP	121457	broad.mit.edu	37	12	99038328	99038328	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr12:99038328G>A	uc001tfx.3	-	0	262	c.152C>T	c.(151-153)tCg>tTg	p.S51L	APAF1_uc001tfy.3_5'Flank|APAF1_uc001tfz.3_5'Flank|APAF1_uc001tga.3_5'Flank|APAF1_uc001tgb.3_5'Flank|APAF1_uc001tgc.3_5'Flank|IKBIP_uc001tfv.3_Missense_Mutation_p.S51L|IKBIP_uc001tfw.3_Missense_Mutation_p.S51L	NM_153687	NP_710154	Q70UQ0	IKIP_HUMAN	Homo sapiens IKBKB interacting protein (IKBIP), transcript variant 1, mRNA.	51					induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						CGTCCCCAGCGACAGCAGGCT	0.751000														9			5		0	0	0.000602214	0	0
BEND2	139105	broad.mit.edu	37	X	18221737	18221737	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chrX:18221737C>T	uc004cyj.4	-	4	945	c.791G>A	c.(790-792)cGa>cAa	p.R264Q	BEND2_uc010nfb.2_Missense_Mutation_p.R264Q	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	Homo sapiens BEN domain containing 2 (BEND2), transcript variant 1, mRNA.	264								p.R264*(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						GGATTCTCTTCGTGACAGAAC	0.463000														57			19		0	0	0.00074312	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19419831	19419831	+	RNA	SNP	C	G	G			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr13:19419831C>G	uc010tcj.1	-	0		c.26279G>C								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		TGCTTTGTTACTAAAGCAAAA	0.274000														34			5		0	0	0.000602214	0	0
HCN2	610	broad.mit.edu	37	19	590414	590414	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr19:590414G>A	uc002lpe.3	+	0	522	c.469G>A	c.(469-471)Ggc>Agc	p.G157S		NM_001194	NP_001185	Q9UL51	HCN2_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 2 (HCN2), mRNA.	157					cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		ggagccgcgcggcAGCCAGGC	0.776000														13			5		0	0	0.00116845	0	0
ABCB1	5243	broad.mit.edu	37	7	87178664	87178664	+	Splice_Site	SNP	C	T	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr7:87178664C>T	uc003uiz.2	-	15	2218	c.1725_splice	c.e15+1	p.K575_splice	ABCB1_uc011khc.2_Splice_Site_p.K511_splice	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	575	ABC transporter 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CCTCACTGACCTTATCCAGAG	0.448000														28			13		0	0	0.00136819	0	0
RNF213	57674	broad.mit.edu	37	17	78316946	78316946	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr17:78316946G>A	uc002jyh.2	+	27	6294	c.6151G>A	c.(6151-6153)Gtg>Atg	p.V2051M	RNF213_uc021uen.1_Missense_Mutation_p.V2002M	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GTCTCTGTACGTGAAGAGGTT	0.483000														17			10		0	0	0.000978159	0	0
NDST3	9348	broad.mit.edu	37	4	118975649	118975649	+	Missense_Mutation	SNP	T	A	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr4:118975649T>A	uc003ibx.3	+	1	987	c.584T>A	c.(583-585)aTt>aAt	p.I195N	NDST3_uc011cgf.1_Missense_Mutation_p.I195N|NDST3_uc003ibw.3_Missense_Mutation_p.I195N	NM_004784	NP_004775	O95803	NDST3_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 (NDST3), mRNA.	195	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						GATTGTTGTATTAATCCTCAT	0.353000														67			37		0	0	0.00195071	0	0
GJB3	2707	broad.mit.edu	37	1	35250960	35250960	+	Silent	SNP	C	T	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr1:35250960C>T	uc001bxz.4	+	0	597	c.597C>T	c.(595-597)atC>atT	p.I199I	GJB3_uc001bxx.3_Silent_p.I199I|GJB3_uc001bxy.3_Silent_p.I199I	NM_024009	NP_076872	O75712	CXB3_HUMAN	Homo sapiens gap junction protein, beta 3, 31kDa (GJB3), transcript variant 1, mRNA.	199					cell communication	connexon complex|integral to membrane	gap junction channel activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				CCGTCTGCATCGTACTCACCA	0.612000														42			9		0	0	0.000442599	0	0
METTL7B	196410	broad.mit.edu	37	12	56077753	56077753	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr12:56077753G>A	uc010spr.2	+	1	864	c.655G>A	c.(655-657)Gaa>Aaa	p.E219K		NM_152637	NP_689850	Q6UX53	MET7B_HUMAN	Homo sapiens methyltransferase like 7B (METTL7B), mRNA.	219							methyltransferase activity			kidney(1)|large_intestine(1)|lung(4)	6						CCAGTTCTCCGAAATCCAAAT	0.542000														66			43		0	0	0.00170553	0	0
PRIM2	5558	broad.mit.edu	37	6	57246833	57246833	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr6:57246833C>T	uc003pdx.3	+	6	647	c.560C>T	c.(559-561)cCt>cTt	p.P187L	PRIM2_uc003pdw.3_Missense_Mutation_p.P187L	NM_000947	NP_000938	P49643	PRI2_HUMAN	Homo sapiens primase, DNA, polypeptide 2 (58kDa) (PRIM2), mRNA.	187					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		ATTCAGATCCCTTTTGCTGAT	0.353000														28			6		0	0	0.00116845	0	0
GTSF1	121355	broad.mit.edu	37	12	54854188	54854188	+	Silent	SNP	G	A	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr12:54854188G>A	uc001sgb.3	-	6	546	c.460C>T	c.(460-462)Ctg>Ttg	p.L154L		NM_144594	NP_653195	Q8WW33	GTSF1_HUMAN	Homo sapiens gametocyte specific factor 1 (GTSF1), mRNA.	154							metal ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(1001;0.00452)				ACATACGGCAGAGATTTGGGA	0.388000														20			21		0	0	0.00047179	0	0
KRTAP10-4	386672	broad.mit.edu	37	21	45993886	45993886	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr21:45993886C>T	uc002zfk.1	+	0	281	c.251C>T	c.(250-252)tCc>tTc	p.S84F	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198687	NP_941960	P60372	KR104_HUMAN	Homo sapiens keratin associated protein 10-4 (KRTAP10-4), mRNA.	84	36 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						TGCACCAGCTCCTGCACGCCC	0.687000														40			9		0	0	0.00136819	0	0
LOC645752	645752	broad.mit.edu	37	15	78211548	78211548	+	Silent	SNP	T	C	C			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr15:78211548T>C	uc010bky.2	-	10	983	c.219A>G	c.(217-219)caA>caG	p.Q73Q						Homo sapiens golgi autoantigen, golgin subfamily a, 6 pseudogene (LOC645752), non-coding RNA.																		CCACCTGGGATTGGAGCTTTC	0.562000														150			5		0	0	0.000602214	0	0
IGSF9B	22997	broad.mit.edu	37	11	133805550	133805550	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr11:133805550C>T	uc001qgx.4	-	6	1160	c.929G>A	c.(928-930)gGg>gAg	p.G310E	IGSF9B_uc001qgy.1_Missense_Mutation_p.G152E	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA.	310	Ig-like 3.					integral to membrane|plasma membrane		p.G309G(1)		breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GGGGGAGCGCCCCAGGCTGTT	0.637000														11			3		0	0	6.4e-05	0	0
FAT2	2196	broad.mit.edu	37	5	150885593	150885593	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr5:150885593G>A	uc003lue.4	-	22	12596	c.12583C>T	c.(12583-12585)Cac>Tac	p.H4195Y	FAT2_uc003lud.4_Missense_Mutation_p.H802Y	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	4195					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)			ACTTCGGAGTGGGGGTATTCC	0.602000														121			40		0	0	0.00195071	0	0
STAG1	10274	broad.mit.edu	37	3	136342005	136342005	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr3:136342005G>A	uc003era.1	-	2	407	c.115C>T	c.(115-117)Cgt>Tgt	p.R39C	STAG1_uc003erb.1_Missense_Mutation_p.R39C|STAG1_uc003erc.1_5'UTR|STAG1_uc010hua.1_5'UTR|STAG1_uc003ere.3_Missense_Mutation_p.R39C	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	Homo sapiens stromal antigen 1 (STAG1), mRNA.	39					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						CGGCCAGGACGACCCCTTTTT	0.403000														134			44		0	0	0.000781405	0	0
KCTD18	130535	broad.mit.edu	37	2	201369606	201369606	+	Silent	SNP	G	A	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr2:201369606G>A	uc002uvs.3	-	2	754	c.237C>T	c.(235-237)ccC>ccT	p.P79P	KCTD18_uc002uvt.3_Silent_p.P79P|KCTD18_uc002uvu.1_Silent_p.P79P	NM_152387	NP_689600	Q6PI47	KCD18_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 18 (KCTD18), mRNA.	79	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						GCTCATCTGTGGGAATCTGAA	0.433000														30			9		0	0	0.000274275	0	0
DNAH9	1770	broad.mit.edu	37	17	11700945	11700945	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr17:11700945G>A	uc002gne.3	+	42	8323	c.8255G>A	c.(8254-8256)aGc>aAc	p.S2752N	DNAH9_uc010coo.3_Missense_Mutation_p.S2046N	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2752					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAGACCCAAAGCCCGAACCTG	0.507000														26			6		0	0	0.000157383	0	0
OR13H1	347468	broad.mit.edu	37	X	130678175	130678175	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chrX:130678175G>A	uc011muw.2	+	0	128	c.128G>A	c.(127-129)gGa>gAa	p.G43E	IGSF1_uc004ewf.2_Intron	NM_001004486	NP_001004486	Q8NG92	O13H1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily H, member 1 (OR13H1), mRNA.	43					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)					TTGGGGAATGGATTTATGATC	0.383000														77			38		0	0	0.00111076	0	0
AGPAT6	137964	broad.mit.edu	37	8	41467308	41467308	+	Nonsense_Mutation	SNP	G	T	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr8:41467308G>T	uc003xnz.2	+	3	1309	c.370G>T	c.(370-372)Gag>Tag	p.E124*		NM_178819	NP_848934	Q86UL3	GPAT4_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 6 (lysophosphatidic acid acyltransferase, zeta) (AGPAT6), mRNA.	124					acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	glycerol-3-phosphate O-acyltransferase activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)			GAAAGGAATGGAGACCATTAT	0.448000														93			23		1.85244e-09	7.30206e-09	0.00047179	1	0
SHANK1	50944	broad.mit.edu	37	19	51219543	51219543	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr19:51219543G>A	uc002psx.1	-	1	467	c.448C>T	c.(448-450)Ccc>Tcc	p.P150S		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	150					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		TCCAGGTAGGGGACCCCCTTC	0.582000														89			16		0	0	0.000566183	0	0
GC	2638	broad.mit.edu	37	4	72620790	72620790	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr4:72620790G>A	uc010iif.3	-	9	1221	c.1126C>T	c.(1126-1128)Ccg>Tcg	p.P376S	GC_uc003hge.3_Missense_Mutation_p.P357S|GC_uc021xpb.1_Missense_Mutation_p.P357S	NM_001204307	NP_001191236	P02774	VTDB_HUMAN	Homo sapiens group-specific component (vitamin D binding protein) (GC), transcript variant 3, mRNA.	357	Albumin 2.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	AATACTTCCGGAAGATGAGTC	0.343000														28			21		0	0	0.000586117	0	0
TEAD2	8463	broad.mit.edu	37	19	49852044	49852044	+	Silent	SNP	G	A	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr19:49852044G>A	uc002pnh.3	-	8	769	c.663C>T	c.(661-663)gcC>gcT	p.A221A	TEAD2_uc002png.3_Silent_p.A220A|TEAD2_uc002pni.3_Silent_p.A220A|TEAD2_uc002pnj.3_Silent_p.A217A|TEAD2_uc010yao.2_Silent_p.A89A|TEAD2_uc010emw.3_Silent_p.A220A	NM_003598	NP_003589	Q15562	TEAD2_HUMAN	Homo sapiens TEA domain family member 2 (TEAD2), mRNA.	217	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.R221W(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		GAGCCTGCCAGGCTGGGGGCG	0.577000														39			7		0	0	0.00198382	0	0
CLPTM1L	81037	broad.mit.edu	37	5	1339007	1339007	+	Silent	SNP	G	A	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr5:1339007G>A	uc003jch.3	-	3	613	c.567C>T	c.(565-567)tcC>tcT	p.S189S	CLPTM1L_uc003jcg.3_Silent_p.S56S	NM_030782	NP_110409	Q96KA5	CLP1L_HUMAN	Homo sapiens CLPTM1-like (CLPTM1L), mRNA.	189					apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		CGGCAGGCAGGGAGGACCCGT	0.647000														47			9		0	0	0.000673444	0	0
AARSD1	80755	broad.mit.edu	37	17	41108528	41108528	+	Missense_Mutation	SNP	T	C	C			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr17:41108528T>C	uc010whg.2	-	9	1307	c.961A>G	c.(961-963)Act>Gct	p.T321A	AARSD1_uc002icd.3_Missense_Mutation_p.T260A|AARSD1_uc010cyu.1_Missense_Mutation_p.T147A	NM_001136042	NP_079543	Q9BTE6	AASD1_HUMAN	Homo sapiens alanyl-tRNA synthetase domain containing 1 (AARSD1), transcript variant 1, mRNA.	147					alanyl-tRNA aminoacylation	cytoplasm	ATP binding|alanine-tRNA ligase activity|metal ion binding|nucleic acid binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|skin(1)	17		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		TGCTCTGCAGTCATAGAGGGG	0.483000														39			5		0	0	0.00116845	0	0
EPB49	2039	broad.mit.edu	37	8	21926979	21926979	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr8:21926979C>T	uc022asw.1	+	4	382	c.344C>T	c.(343-345)cCc>cTc	p.P115L	EPB49_uc022asq.1_Missense_Mutation_p.P115L|EPB49_uc011kys.1_Missense_Mutation_p.P75L|EPB49_uc022asr.1_Missense_Mutation_p.P115L|EPB49_uc022ass.1_Missense_Mutation_p.P90L|EPB49_uc022ast.1_Missense_Mutation_p.P115L|EPB49_uc022asu.1_Missense_Mutation_p.P115L|EPB49_uc022asv.1_Missense_Mutation_p.P115L|EPB49_uc022asx.1_Missense_Mutation_p.P115L|EPB49_uc022asy.1_Missense_Mutation_p.P90L	NM_001978	NP_001969	Q08495	DEMA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.9 (dematin) (EPB49), transcript variant 1, mRNA.	115					actin filament bundle assembly|actin filament capping	actin cytoskeleton|nucleus	actin binding			central_nervous_system(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	10				Colorectal(74;9.05e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0631)		GCCTCGGCCCCCAGAACCACT	0.627000														42			8		0	0	0.000673444	0	0
AGBL1	123624	broad.mit.edu	37	15	86940643	86940643	+	Silent	SNP	G	A	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr15:86940643G>A	uc002blz.1	+	16	2363	c.2283G>A	c.(2281-2283)gaG>gaA	p.E761E		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	761					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			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						ATCCAGGAGAGAGCAATGCCA	0.443000														49			9		0	0	0.000442599	0	0
TNR	7143	broad.mit.edu	37	1	175331865	175331865	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr1:175331865C>T	uc001gkp.1	-	11	2869	c.2788G>A	c.(2788-2790)Gaa>Aaa	p.E930K	TNR_uc009wwu.1_Missense_Mutation_p.E930K	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	930	Fibronectin type-III 7.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.E930K(4)|p.Y929Y(2)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AGGCTGATTTCGTATTCGGTA	0.532000														94			25		0	0	0.00278032	0	0
SLC22A1	6580	broad.mit.edu	37	6	160564612	160564612	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr6:160564612G>A	uc003qtc.3	+	7	1421	c.1316G>A	c.(1315-1317)cGa>cAa	p.R439Q	SLC22A1_uc003qtd.3_Missense_Mutation_p.R439Q	NM_003057	NP_003048	O15245	S22A1_HUMAN	Homo sapiens solute carrier family 22 (organic cation transporter), member 1 (SLC22A1), transcript variant 1, mRNA.	439						basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding		SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		TGTGTTGGCCGAATGGGAATC	0.498000														36			12		0	0	0.00136819	0	0
GUSBP11	91316	broad.mit.edu	37	22	24056458	24056458	+	RNA	SNP	A	G	G			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr22:24056458A>G	uc011aiz.2	-	2		c.651T>C			GUSBP11_uc010gub.1_Non-coding_Transcript					Homo sapiens glucuronidase, beta pseudogene 11 (GUSBP11), non-coding RNA.																		GTATAGAAGCAGAGACCACAG	0.552000														9			3		0	0	0.00024832	0	0
CDCA8	55143	broad.mit.edu	37	1	38158627	38158627	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr1:38158627G>A	uc001cbr.3	+	2	252	c.145G>A	c.(145-147)Gag>Aag	p.E49K	C1orf109_uc010oig.2_5'Flank|C1orf109_uc001cbo.3_5'Flank|C1orf109_uc001cbp.3_5'Flank|C1orf109_uc001cbq.1_5'Flank|CDCA8_uc001cbs.3_Missense_Mutation_p.E49K|CDCA8_uc010oih.1_5'UTR	NM_018101	NP_060571	Q53HL2	BOREA_HUMAN	Homo sapiens cell division cycle associated 8 (CDCA8), mRNA.	49	Required for centromere localization.|Required for interaction with INCENP and BIRC5.|Required for interaction with INCENP.|Required for interaction with SENP3.|Required to form a minimal CPC core complex that localizes to the central spindle and midbody and properly executes the role of the CPC during cytokinesis.				cell division|chromosome organization|mitotic metaphase|mitotic prometaphase	chromosome passenger complex|chromosome, centromeric region|cytosol|nucleolus|spindle	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCTCCTCAAGGAGGTGGATAA	0.567000														46			17		0	0	0.000422831	0	0
LRBA	987	broad.mit.edu	37	4	151773905	151773905	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr4:151773905G>A	uc010ipj.3	-	22	3201	c.2957C>T	c.(2956-2958)aCc>aTc	p.T986I	LRBA_uc003ilu.4_Missense_Mutation_p.T986I	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	986						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					ACCATTTGTGGTGAAATGAGG	0.373000														38			23		0	0	0.00229938	0	0
MPHOSPH8	54737	broad.mit.edu	37	13	20221047	20221047	+	Silent	SNP	C	T	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr13:20221047C>T	uc001umh.3	+	2	935	c.834C>T	c.(832-834)gaC>gaT	p.D278D	MPHOSPH8_uc001umg.3_Silent_p.D278D|MPHOSPH8_uc001umi.3_5'UTR	NM_017520	NP_059990	Q99549	MPP8_HUMAN	Homo sapiens M-phase phosphoprotein 8 (MPHOSPH8), mRNA.	278					cell cycle	cytoplasm|nucleus				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		CAGAGGATGACAGTGAAGGGC	0.423000														100			20		0	0	0.00152264	0	0
PELP1	27043	broad.mit.edu	37	17	4577850	4577851	+	Missense_Mutation	DNP	CT	TA	TA			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr17:4577850_4577851CT>TA	uc002fyi.4	-	12	1762_1763	c.1536_1537AG>TA	c.(1534-1539)aaaggg>aaTAgg	p.512_513KG>NR	PELP1_uc010vsf.2_Missense_Mutation_p.365_366KG>NR	NM_014389	NP_055204	Q8IZL8	PELP1_HUMAN	Homo sapiens proline, glutamate and leucine rich protein 1 (PELP1), mRNA.	512					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						TTGCTATCCCCTTTCCGGTGGC	0.629000														36			12		0	0	6.4e-05	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58549328	58549328	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr19:58549328C>T	uc002qrc.1	+	2	371	c.124C>T	c.(124-126)Cgg>Tgg	p.R42W	ZSCAN1_uc002qra.1_Missense_Mutation_p.R42W|ZSCAN1_uc002qrb.1_Missense_Mutation_p.R42W	NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA.	42	SCAN box.				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)		TCTGCGCTTCCGGCAGTTCCA	0.721000														21			4		0	0	0.00024832	0	0
CLECL1	160365	broad.mit.edu	37	12	9885648	9885648	+	Silent	SNP	G	A	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr12:9885648G>A	uc001qwi.3	-	0	248	c.213C>T	c.(211-213)ttC>ttT	p.F71F	CLECL1_uc001qwj.3_Silent_p.F71F	NM_001253750	NP_001240679	Q8IZS7	CLCL1_HUMAN	Homo sapiens C-type lectin-like 1 (CLECL1), transcript variant 3, mRNA.	71						integral to membrane|plasma membrane	sugar binding	p.V70V(1)		breast(1)|kidney(1)|large_intestine(4)|lung(3)	9						AAAAGAGAGAGAAGACCACAA	0.428000														49			19		0	0	0.00152264	0	0
GRIK4	2900	broad.mit.edu	37	11	120707551	120707551	+	Silent	SNP	C	T	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr11:120707551C>T	uc001pxn.2	+	7	1029	c.742C>T	c.(742-744)Ctg>Ttg	p.L248L	GRIK4_uc009zav.1_Silent_p.L248L|GRIK4_uc009zaw.1_Silent_p.L248L|GRIK4_uc009zax.1_Silent_p.L248L	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 4 (GRIK4), mRNA.	248					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	CTTCACTAATCTGGTAAGATG	0.453000														58			22		0	0	0.00229938	0	0
EXTL3	2137	broad.mit.edu	37	8	28574362	28574362	+	Silent	SNP	C	T	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr8:28574362C>T	uc003xgz.1	+	2	1379	c.786C>T	c.(784-786)tcC>tcT	p.S262S		NM_001440	NP_001431	O43909	EXTL3_HUMAN	Homo sapiens exostoses (multiple)-like 3 (EXTL3), mRNA.	262						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		AGTTGTATTCCCTGCCACACT	0.527000														53			6		0	0	0.00116845	0	0
FAM92A1	137392	broad.mit.edu	37	8	94722022	94722022	+	Silent	SNP	T	A	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr8:94722022T>A	uc022ayd.1	+	5	565	c.462T>A	c.(460-462)gcT>gcA	p.A154A	FAM92A1_uc022ayc.1_Missense_Mutation_p.L155Q|FAM92A1_uc003yfx.4_Non-coding_Transcript|FAM92A1_uc003yfw.4_Non-coding_Transcript|FAM92A1_uc010mar.3_5'UTR	NM_145269	NP_660312	A1XBS5	F92A1_HUMAN	Homo sapiens family with sequence similarity 92, member A1 (FAM92A1), mRNA.	154										NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)	7	Breast(36;2.4e-06)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TACAGAGAGCTGCAATGGATG	0.358000														25			6		0	0	0.00116845	0	0
GLRA1	2741	broad.mit.edu	37	5	151239414	151239414	+	Silent	SNP	G	A	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr5:151239414G>A	uc003lut.3	-	3	695	c.408C>T	c.(406-408)ttC>ttT	p.F136F	GLRA1_uc003lur.3_Silent_p.F136F|GLRA1_uc003lus.3_Silent_p.F53F	NM_001146040	NP_001139512	P23415	GLRA1_HUMAN	Homo sapiens glycine receptor, alpha 1 (GLRA1), transcript variant 1, mRNA.	136					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TGATCTCATGGAAGTGGGCCC	0.522000														71			10		0	0	0.000442599	0	0
ACSM2B	348158	broad.mit.edu	37	16	20575996	20575996	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr16:20575996C>T	uc002dhj.4	-	2	382	c.172G>A	c.(172-174)Gag>Aag	p.E58K	ACSM2B_uc002dhk.4_Missense_Mutation_p.E58K|ACSM2B_uc010bwf.1_Missense_Mutation_p.E58K	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.	58					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						ATTACCTTCTCCATGTCAGCC	0.413000														25			7		0	0	0.000157383	0	0
ARAP2	116984	broad.mit.edu	37	4	36109304	36109304	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr4:36109304G>A	uc003gsq.2	-	26	4506	c.4168C>T	c.(4168-4170)Cac>Tac	p.H1390Y		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	1390	Ras-associating.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TCCTTGTAGTGAAGAGGACGC	0.353000														71			38		0	0	0.00111076	0	0
IRF6	3664	broad.mit.edu	37	1	209974754	209974754	+	Missense_Mutation	SNP	G	A	A	rs28942093		TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr1:209974754G>A	uc001hhq.2	-	2	309	c.5C>T	c.(4-6)gCc>gTc	p.A2V	IRF6_uc010psm.2_Intron	NM_006147	NP_001193625	O14896	IRF6_HUMAN	Homo sapiens interferon regulatory factor 6 (IRF6), transcript variant 1, mRNA.	2			A -> V (in VWS; dbSNP:rs28942093).		cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		GGGGTGGAGGGCCATGATCTG	0.597000										HNSCC(57;0.16)				77			14		0	0	0.000422831	0	0
BEGAIN	57596	broad.mit.edu	37	14	101004532	101004532	+	Missense_Mutation	SNP	C	A	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr14:101004532C>A	uc010txa.2	-	5	1702	c.1556G>T	c.(1555-1557)gGg>gTg	p.G519V	BEGAIN_uc001yhp.3_Missense_Mutation_p.G455V|BEGAIN_uc001yhq.3_Missense_Mutation_p.G519V	NM_001159531	NP_065887	Q9BUH8	BEGIN_HUMAN	Homo sapiens brain-enriched guanylate kinase-associated homolog (rat) (BEGAIN), transcript variant 1, mRNA.	519						cytoplasm|membrane	protein binding			cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				GTCCCCGTCCCCCCCCTCGCT	0.731000														7			4		2.56e-06	1.00328e-05	0.00024832	1	0
PCDHGC5	56097	broad.mit.edu	37	5	140751639	140751639	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr5:140751639C>T	uc003ljw.2	+	0	1678	c.1678C>T	c.(1678-1680)Ccg>Tcg	p.P560S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljy.2_5'Flank|PCDHGC5_uc011dat.2_Missense_Mutation_p.P560S|PCDHGC5_uc011dau.2_5'Flank	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	562	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGACAATGCACCGCTGGTGCT	0.662000														29			4		0	0	0.00024832	0	0
PSMB11	122706	broad.mit.edu	37	14	23512032	23512032	+	Missense_Mutation	SNP	G	A	A			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr14:23512032G>A	uc010ake.1	+	0	657	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K		NM_001099780	NP_001093250	A5LHX3	PSB11_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, beta type, 11 (PSMB11), mRNA.	200					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		GAGCACCCAGGAAGCCTACGC	0.642000														31			14		0	0	0.000308642	0	0
C19orf66	55337	broad.mit.edu	37	19	10200710	10200710	+	Missense_Mutation	SNP	C	T	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr19:10200710C>T	uc002mmu.4	+	4	669	c.371C>T	c.(370-372)cCc>cTc	p.P124L	C19orf66_uc002mmv.4_Missense_Mutation_p.P124L|C19orf66_uc002mmw.4_Missense_Mutation_p.P73L	NM_018381	NP_060851	Q9NUL5	CS066_HUMAN	Homo sapiens chromosome 19 open reading frame 66 (C19orf66), mRNA.	124										large_intestine(3)|skin(1)	4						CGCCGCGTGCCCCAGCGGAAG	0.572000														6			4		0	0	0.00024832	0	0
NAALADL2	254827	broad.mit.edu	37	3	174974201	174974201	+	Splice_Site	SNP	C	T	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr3:174974201C>T	uc003fit.3	+	4	907	c.820_splice	c.e4-1	p.A274_splice	NAALADL2_uc003fiu.1_Splice_Site_p.A267_splice|NAALADL2_uc010hwy.1_Splice_Site_p.A96_splice|NAALADL2_uc010hwz.1_Splice_Site	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 2 (NAALADL2), mRNA.	274					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		CTCTTTCAGGCTGAAGTCATC	0.313000														44			23		0	0	0.00278032	0	0
XIRP2	129446	broad.mit.edu	37	2	168103971	168103971	+	Silent	SNP	A	G	G			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr2:168103971A>G	uc002udx.3	+	8	6158	c.6069A>G	c.(6067-6069)aaA>aaG	p.K2023K	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.K1848K|XIRP2_uc010fpq.3_Silent_p.K1801K|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1848					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAGCCCCCAAAGGCACTGTAA	0.403000														42			13		0	0	0.00244969	0	0
HDGFL1	154150	broad.mit.edu	37	6	22570346	22570347	+	In_Frame_Ins	INS	-	GGC	GGC			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr6:22570346_22570347insGGC	uc003nds.3	+	0	669_670	c.542_543insGGC	c.(541-543)agg>agGGCg	p.188_189insA		NM_138574	NP_612641	Q5TGJ6	HDGL1_HUMAN	Homo sapiens hepatoma derived growth factor-like 1 (HDGFL1), mRNA.	188	Ala-rich.|Glu-rich.									kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					gaagcggagagggcggcggcgg	0.767													---	4	---	---	2	---					
HSP90AB1	3326	broad.mit.edu	37	6	44220932	44220932	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr6:44220932delA	uc003oxa.1	+	10	1966	c.1882delA	c.(1882-1884)atcfs	p.I628fs	HSP90AB1_uc011dvr.1_Frame_Shift_Del_p.I618fs|HSP90AB1_uc003oxb.1_Frame_Shift_Del_p.I628fs|HSP90AB1_uc011dvs.1_Frame_Shift_Del_p.I448fs|HSP90AB1_uc003oxc.1_Frame_Shift_Del_p.I266fs	NM_007355	NP_031381	P08238	HS90B_HUMAN	Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 1 (HSP90AB1), mRNA.	628					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|TPR domain binding|nitric-oxide synthase regulator activity|unfolded protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GCACCTGGAGATCAACCCTGA	0.547													---	127	---	---	17	---					
EMG1	10436	broad.mit.edu	37	12	7080212	7080213	+	Splice_Site	INS	-	C	C	rs36063533		TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr12:7080212_7080213insC	uc001qsh.4	+	1	269	c.126_splice	c.e1+1	p.S42_splice	PHB2_uc021quf.1_5'Flank|PHB2_uc021qug.1_5'Flank|PHB2_uc010sft.1_5'Flank|PHB2_uc010sfu.1_5'Flank|EMG1_uc009zfo.2_Non-coding_Transcript|EMG1_uc010sfv.1_Non-coding_Transcript	NM_006331	NP_006322	Q92979	NEP1_HUMAN	Homo sapiens EMG1 nucleolar protein homolog (S. cerevisiae) (EMG1), mRNA.	42					ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										GAGGCCGTAGTTTATTGTGGTG	0.569													---	12	---	---	6	---					
MIS18BP1	55320	broad.mit.edu	37	14	45716018	45716019	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HR-A2OH-01A-11D-A197-08	TCGA-HR-A2OH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30724ea1-392c-409c-8704-36d9486219ed	6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8	g.chr14:45716018_45716019insT	uc001wwf.3	-	1	930_931	c.471_472insA	c.(469-474)aaattgfs	p.K157fs	MIS18BP1_uc010anh.2_Non-coding_Transcript	NM_018353	NP_060823	Q6P0N0	M18BP_HUMAN	Homo sapiens MIS18 binding protein 1 (MIS18BP1), mRNA.	157					CenH3-containing nucleosome assembly at centromere|cell division|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding	p.K157fs*24(2)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						GTATGCTGCAATTTTTTTTTTT	0.356													---	112	---	---	9	---					
