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
ABCD2	225	broad.mit.edu	37	12	39997780	39997780	+	Silent	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:39997780A>G	uc001rmb.2	-	4	1860	c.1434T>C	c.(1432-1434)atT>atC	p.I478I		NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 2 (ABCD2), mRNA.	478	ABC transporter.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						TTTCACAAATAATTCCGTGAT	0.328000														37			8		0	0	0.006214	0	0
C1orf123	54987	broad.mit.edu	37	1	53684091	53684091	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:53684091G>A	uc001cvd.3	-	3	266	c.224C>T	c.(223-225)tCc>tTc	p.S75F		NM_017887	NP_060357	Q9NWV4	CA123_HUMAN	Homo sapiens chromosome 1 open reading frame 123 (C1orf123), mRNA.	75										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|pancreas(2)|skin(1)	6						CCTACCGATGGAATTTTCTCT	0.547000														20			31		0	0	0.003271	0	0
DSE	29940	broad.mit.edu	37	6	116756761	116756761	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:116756761G>A	uc011ebg.2	+	5	1286	c.1187G>A	c.(1186-1188)aGc>aAc	p.S396N	DSE_uc003pws.3_Missense_Mutation_p.S377N|DSE_uc003pwt.3_Missense_Mutation_p.S377N|DSE_uc003pwu.3_Missense_Mutation_p.S44N	NM_013352	NP_037484	Q9UL01	DSE_HUMAN	Homo sapiens dermatan sulfate epimerase (DSE), transcript variant 1, mRNA.	377					dermatan sulfate biosynthetic process	Golgi apparatus|endoplasmic reticulum|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TATGATGGCAGCTTGAAATCG	0.403000														17			22		0	0	0.002299	0	0
LHFP	10186	broad.mit.edu	37	13	39918104	39918104	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:39918104G>A	uc001uxf.3	-	3	1083	c.572C>T	c.(571-573)tCg>tTg	p.S191L		NM_005780	NP_005771	Q9Y693	LHFP_HUMAN	Homo sapiens lipoma HMGIC fusion partner (LHFP), mRNA.	191						integral to membrane	DNA binding		HMGA2/LHFP(2)	breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)		TTTCTTGCCCGAAAAGCAAGC	0.557000			T	HMGA2	lipoma									64			51		0	0	0.003610	0	0
PPL	5493	broad.mit.edu	37	16	4935161	4935162	+	Missense_Mutation	DNP	GT	AA	AA	rs148525665		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:4935161_4935162GT>AA	uc002cyd.1	-	21	3584_3585	c.3494_3495AC>TT	c.(3493-3495)aac>aTT	p.N1165I		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	1165					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CCACTTTGGCGTTCTCCTCCTC	0.619000														37			35		0	0	0.004672	0	0
SLC4A3	6508	broad.mit.edu	37	2	220505217	220505217	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:220505217C>T	uc002vmo.4	+	20	3633	c.3424C>T	c.(3424-3426)Ctg>Ttg	p.L1142L	SLC4A3_uc002vmp.4_Silent_p.L1115L|SLC4A3_uc010fwm.3_Silent_p.L665L	NM_201574	NP_963868	P48751	B3A3_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 3 (SLC4A3), transcript variant 2, mRNA.	1115	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGGATCTTCCTGTACATGGG	0.592000														56			22		0	0	0.003330	0	0
DCLK3	85443	broad.mit.edu	37	3	36779344	36779344	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:36779344C>T	uc003cgi.2	-	1	1298	c.807G>A	c.(805-807)agG>agA	p.R269R		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	269						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						CATGTTTGCTCCTGCTCATGG	0.587000														43			17		0	0	0.004990	0	0
LIPH	200879	broad.mit.edu	37	3	185245282	185245282	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:185245282G>A	uc003fpm.3	-	3	728	c.618C>T	c.(616-618)tcC>tcT	p.S206S	LIPH_uc010hyh.3_Intron	NM_139248	NP_640341	Q8WWY8	LIPH_HUMAN	Homo sapiens lipase, member H (LIPH), mRNA.	206					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity	p.H205N(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CATCAGTGTCGGAATGGATGA	0.527000														139			63		0	0	0.003610	0	0
KRTAP15-1	254950	broad.mit.edu	37	21	31812928	31812928	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr21:31812928C>T	uc002yod.3	+	0	283	c.283C>T	c.(283-285)Ctt>Ttt	p.L95F		NM_181623	NP_853654	Q3LI76	KR151_HUMAN	Homo sapiens keratin associated protein 15-1 (KRTAP15-1), mRNA.	95						intermediate filament				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						CATAAGATCCCTTGGATGTGG	0.502000														65			54		0	0	0.003610	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110396348	110396348	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:110396348G>A	uc003yne.3	+	4	571	c.467G>A	c.(466-468)gGa>gAa	p.G156E		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	156	IPT/TIG 2.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CCTTTATCTGGAACTCCAGGT	0.289000										HNSCC(38;0.096)				30			43		0	0	0.003610	0	0
COL19A1	1310	broad.mit.edu	37	6	70812072	70812072	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:70812072G>A	uc003pfc.1	+	15	1353	c.1236G>A	c.(1234-1236)ggG>ggA	p.G412G	COL19A1_uc010kam.2_Silent_p.G308G	NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	412	Triple-helical region 2 (COL2).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	p.G412E(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GAAGACGAGGGAAAACAGGAC	0.383000														26			11		0	0	0.001368	0	0
CCDC150	284992	broad.mit.edu	37	2	197584355	197584355	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:197584355G>A	uc002utp.1	+	18	2265	c.2130G>A	c.(2128-2130)cgG>cgA	p.R710R	CCDC150_uc010zgs.1_Silent_p.R357R|CCDC150_uc010zgt.1_Silent_p.R127R|CCDC150_uc002utq.1_Silent_p.R25R|CCDC150_uc002utr.1_Silent_p.R25R	NM_001080539	NP_001074008	Q8NCX0	CC150_HUMAN	Homo sapiens coiled-coil domain containing 150 (CCDC150), mRNA.	710										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						AGCTTGGGCGGAGGGATTCAG	0.448000														7			12		0	0	0.004007	0	0
LTA4H	4048	broad.mit.edu	37	12	96402917	96402917	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:96402917C>G	uc001ten.1	-	14	1457	c.1389G>C	c.(1387-1389)atG>atC	p.M463I	LTA4H_uc010suy.1_Missense_Mutation_p.M425I|LTA4H_uc010suz.1_Missense_Mutation_p.M425I|LTA4H_uc010sva.1_Non-coding_Transcript	NM_000895	NP_000886	P09960	LKHA4_HUMAN	Homo sapiens leukotriene A4 hydrolase (LTA4H), mRNA.	463					hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12						TTGTCAGAGTCATATCATAAC	0.294000														12			13		0	0	0.004990	0	0
OR5J2	282775	broad.mit.edu	37	11	55944627	55944627	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:55944627C>T	uc010rjb.2	+	0	534	c.534C>T	c.(532-534)ttC>ttT	p.F178F		NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily J, member 2 (OR5J2), mRNA.	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					GCCACTTCTTCTGTGACATTC	0.448000														15			9		0	0	0.006214	0	0
SYT13	57586	broad.mit.edu	37	11	45274136	45274136	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:45274136G>A	uc001myq.2	-	3	808	c.682C>T	c.(682-684)Ccc>Tcc	p.P228S	SYT13_uc009yku.1_Missense_Mutation_p.P84S	NM_020826	NP_001234916	Q7L8C5	SYT13_HUMAN	Homo sapiens synaptotagmin XIII (SYT13), transcript variant 1, mRNA.	228	C2 1.					transport vesicle		p.P228T(2)		breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						TCCGCCAGGGGGAGCACCAGG	0.682000											OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		23			38		0	0	0.007835	0	0
FREM2	341640	broad.mit.edu	37	13	39265085	39265085	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:39265085G>A	uc001uwv.3	+	0	3913	c.3604G>A	c.(3604-3606)Gaa>Aaa	p.E1202K		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	1202					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TATGGTGATGGAAGGCATGAG	0.413000														75			71		0	0	0.003610	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54920357	54920357	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:54920357C>T	uc001sgc.4	+	20	2281	c.2202C>T	c.(2200-2202)atC>atT	p.I734I	NCKAP1L_uc010sox.2_Silent_p.I276I|NCKAP1L_uc010soy.2_Silent_p.I684I	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	734					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CCCAGGAGATCGTACGGCCTT	0.448000														38			8		0	0	0.006214	0	0
DNAH9	1770	broad.mit.edu	37	17	11511509	11511509	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:11511509G>A	uc002gne.3	+	1	549	c.481G>A	c.(481-483)Gat>Aat	p.D161N	DNAH9_uc002gnd.1_Missense_Mutation_p.D161N	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	161	Stem (By similarity).				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)		GATATGTGAGGATGTCAGGCG	0.512000														89			38		0	0	0.001951	0	0
CD1C	911	broad.mit.edu	37	1	158261165	158261165	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:158261165C>T	uc001fru.3	+	1	595	c.303C>T	c.(301-303)gaC>gaT	p.D101D	CD1C_uc021pbl.1_5'Flank	NM_001765	NP_001756	P29017	CD1C_HUMAN	Homo sapiens CD1c molecule (CD1C), mRNA.	101					T cell activation involved in immune response|antigen processing and presentation	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					AGATTCAAGACCATGCAAGTC	0.363000														50			15		0	0	0.004007	0	0
ESYT2	57488	broad.mit.edu	37	7	158531734	158531734	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:158531734G>A	uc003wob.1	-	17	2394	c.2328C>T	c.(2326-2328)atC>atT	p.I776I	ESYT2_uc003wny.1_Non-coding_Transcript|ESYT2_uc003wnz.1_Silent_p.I215I|ESYT2_uc003woa.1_Silent_p.I353I	NM_020728	NP_065779	A0FGR8	ESYT2_HUMAN	Homo sapiens extended synaptotagmin-like protein 2 (ESYT2), mRNA.	804						integral to membrane|plasma membrane		p.L775L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						GCACGACCACGATAAGCTTGT	0.602000														45			26		0	0	0.001786	0	0
LPHN2	23266	broad.mit.edu	37	1	82434924	82434924	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:82434924C>T	uc001dit.4	+	13	2716	c.2535C>T	c.(2533-2535)tcC>tcT	p.S845S	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Silent_p.S845S|LPHN2_uc001div.3_Silent_p.S845S|LPHN2_uc009wcd.3_Silent_p.S845S|LPHN2_uc001diw.3_Silent_p.S429S|LPHN2_uc009wce.1_5'Flank	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	858					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.I844V(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TTGTCATTTCCCTTGTTTGCC	0.393000														63			104		0	0	0.003610	0	0
LILRA1	11024	broad.mit.edu	37	19	55106328	55106328	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:55106328G>A	uc002qgh.1	+	3	451	c.269G>A	c.(268-270)tGg>tAg	p.W90*	LILRA1_uc010yfg.1_Intron|LILRA1_uc010yfh.2_Nonsense_Mutation_p.W90*	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	90	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TCCATCACCTGGGAACACACA	0.557000														45			26		0	0	0.001786	0	0
ITGA7	3679	broad.mit.edu	37	12	56094755	56094755	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:56094755C>T	uc001shh.3	-	3	818	c.598G>A	c.(598-600)Ggc>Agc	p.G200S	ITGA7_uc001shg.3_Missense_Mutation_p.G200S|ITGA7_uc010sps.2_Missense_Mutation_p.G103S|ITGA7_uc009znx.3_Missense_Mutation_p.G87S	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	200					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GCAGCTGTGCCCTGCTGGCAG	0.592000														6			19		0	0	0.001882	0	0
NEDD4	4734	broad.mit.edu	37	15	56122119	56122119	+	Silent	SNP	G	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:56122119G>T	uc002adj.3	-	24	4236	c.3936C>A	c.(3934-3936)acC>acA	p.T1312T	NEDD4_uc002adl.3_Silent_p.T893T|NEDD4_uc002adi.3_Silent_p.T1240T|NEDD4_uc010ugj.2_Silent_p.T1296T|NEDD4_uc010bfm.3_Silent_p.T1295T|NEDD4_uc002adk.3_Non-coding_Transcript	NM_198400	NP_006145	P46934	NEDD4_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 4 (NEDD4), transcript variant 2, mRNA.	1312	HECT.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	RNA polymerase binding|beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		CAAAGCCCTGGGTGTTTTCAA	0.358000														21			6		5.18039e-06	7.15055e-06	0.003080	1	0
SEPT14	346288	broad.mit.edu	37	7	55912397	55912397	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:55912397C>T	uc003tqz.2	-	3	307	c.190G>A	c.(190-192)Gga>Aga	p.G64R		NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	Homo sapiens septin 14 (SEPT14), mRNA.	64					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GTCGATTTTCCAATTCCAGTC	0.343000														1			7		0	0	0.001984	0	0
GOLGA4	2803	broad.mit.edu	37	3	37367218	37367218	+	Silent	SNP	T	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:37367218T>C	uc003cgv.3	+	13	4201	c.3841T>C	c.(3841-3843)Ttg>Ctg	p.L1281L	GOLGA4_uc010hgr.2_Silent_p.L842L|GOLGA4_uc003cgw.3_Silent_p.L1303L|GOLGA4_uc010hgs.3_Intron|GOLGA4_uc003cgx.3_Silent_p.L1162L	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	Homo sapiens golgin A4 (GOLGA4), transcript variant 2, mRNA.	1281	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ACTTAGACAGTTGACAGAGGA	0.343000														21			9		0	0	0.000673	0	0
ADAM29	11086	broad.mit.edu	37	4	175897038	175897038	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:175897038G>A	uc003iuc.3	+	4	1032	c.362G>A	c.(361-363)gGg>gAg	p.G121E	ADAM29_uc003iud.3_Missense_Mutation_p.G121E|ADAM29_uc010irr.3_Missense_Mutation_p.G121E|ADAM29_uc011cki.2_Missense_Mutation_p.G121E|ADAM29_uc021xuo.1_Missense_Mutation_p.G121E	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	121					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		ACCTGTTTTGGGGGTTTTCAA	0.428000														41			13		0	0	0.002450	0	0
TNIK	23043	broad.mit.edu	37	3	170786696	170786696	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:170786696C>A	uc003fhh.2	-	29	3985	c.3640G>T	c.(3640-3642)Ggt>Tgt	p.G1214C	TNIK_uc003fhi.2_Missense_Mutation_p.G1159C|TNIK_uc003fhj.2_Missense_Mutation_p.G1185C|TNIK_uc003fhk.2_Missense_Mutation_p.G1206C|TNIK_uc003fhl.2_Missense_Mutation_p.G1130C|TNIK_uc003fhm.2_Missense_Mutation_p.G1151C|TNIK_uc003fhn.2_Missense_Mutation_p.G1177C|TNIK_uc003fho.2_Missense_Mutation_p.G1122C|TNIK_uc003fhg.2_Missense_Mutation_p.G392C|TNIK_uc003fhp.3_Missense_Mutation_p.G146C	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.	1214	CNH.				Wnt receptor signaling pathway|actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			ACATGGAAACCAGTGTGTGAA	0.373000														15			31		5.45727e-16	7.63e-16	0.001512	1	0
CD22	933	broad.mit.edu	37	19	35832663	35832663	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:35832663G>A	uc010edt.3	+	8	1914	c.1830G>A	c.(1828-1830)aaG>aaA	p.K610K	CD22_uc010edu.3_Silent_p.K522K|CD22_uc010edv.3_Silent_p.K610K|CD22_uc002nzb.4_Silent_p.K433K|CD22_uc010xst.2_Silent_p.K438K|CD22_uc010edx.3_Non-coding_Transcript	NM_001771	NP_001762	P20273	CD22_HUMAN	Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	610	Ig-like C2-type 6.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	TGGAGGGGAAGAGTGCAACCC	0.622000														15			14		0	0	0.001855	0	0
PHF17	79960	broad.mit.edu	37	4	129764143	129764143	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:129764143C>T	uc011cgy.2	+	2	402	c.88C>T	c.(88-90)Cag>Tag	p.Q30*	PHF17_uc003igj.3_Nonsense_Mutation_p.Q30*|PHF17_uc003igk.3_Nonsense_Mutation_p.Q30*|PHF17_uc003igl.3_Nonsense_Mutation_p.Q30*|PHF17_uc003igm.3_Nonsense_Mutation_p.Q30*	NM_199320	NP_955352	Q6IE81	JADE1_HUMAN	Homo sapiens PHD finger protein 17 (PHF17), transcript variant L, mRNA.	30					apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TTCCCGATCCCAGCATAGGAG	0.453000														66			31		0	0	0.006230	0	0
HOOK1	51361	broad.mit.edu	37	1	60314036	60314036	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:60314036C>T	uc009wad.3	+	11	1081	c.979C>T	c.(979-981)Cgt>Tgt	p.R327C	HOOK1_uc001czo.3_Missense_Mutation_p.R327C|HOOK1_uc001czp.3_Non-coding_Transcript|HOOK1_uc010oor.2_Missense_Mutation_p.R285C	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN	Homo sapiens hook homolog 1 (Drosophila) (HOOK1), mRNA.	327	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					TGAGATATATCGTCAGAAGCT	0.353000														3			9		0	0	0.000673	0	0
THSD7B	80731	broad.mit.edu	37	2	137814319	137814319	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:137814319G>A	uc002tva.1	+	1	376	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_Missense_Mutation_p.E16K	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GGTTGCAAATGAAATATGCGA	0.522000														28			48		0	0	0.003214	0	0
RFPL3	10738	broad.mit.edu	37	22	32756380	32756380	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:32756380C>T	uc003amj.3	+	1	720	c.515C>T	c.(514-516)tCc>tTc	p.S172F	RFPL3_uc010gwn.3_Missense_Mutation_p.S143F|RFPL3-AS1_uc003amk.3_Non-coding_Transcript|RFPL3-AS1_uc003aml.3_Non-coding_Transcript	NM_001098535	NP_006595	O75679	RFPL3_HUMAN	Homo sapiens ret finger protein-like 3 (RFPL3), transcript variant 1, mRNA.	172	B30.2/SPRY.						zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						ATCCTGGGCTCCCCTCGCTTT	0.567000														44			29		0	0	0.002836	0	0
INSR	3643	broad.mit.edu	37	19	7122740	7122740	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:7122740C>T	uc002mgd.1	-	18	3523	c.3414G>A	c.(3412-3414)caG>caA	p.Q1138Q	INSR_uc002mge.1_Silent_p.Q1126Q	NM_000208	NP_000199	P06213	INSR_HUMAN	Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	1138	Protein kinase.				G-protein coupled receptor protein signaling pathway|activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of MAPKKK cascade|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|PTB domain binding|SH2 domain binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|receptor signaling protein tyrosine kinase activity			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTGCCGCCATCTGAATCATCT	0.547000														222			214		0	0	0.003610	0	0
SERPINI2	5276	broad.mit.edu	37	3	167183079	167183079	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:167183079C>T	uc003fes.1	-	4	882	c.811G>A	c.(811-813)Gaa>Aaa	p.E271K	SERPINI2_uc003fer.1_Missense_Mutation_p.E261K|SERPINI2_uc003fet.1_Missense_Mutation_p.E261K	NM_006217	NP_006208	O75830	SPI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (pancpin), member 2 (SERPINI2), mRNA.	261					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						TTTTCCACTTCTTCTATATCC	0.358000														20			23		0	0	0.005443	0	0
GDPD4	220032	broad.mit.edu	37	11	76979976	76979976	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:76979976G>T	uc001oyf.3	-	7	868	c.617C>A	c.(616-618)gCa>gAa	p.A206E		NM_182833	NP_878253	Q6W3E5	GDPD4_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 4 (GDPD4), mRNA.	206	GDPD.				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						TACCATGGGTGCACCTCTATG	0.473000														86			83		1.01459e-35	1.42621e-35	0.003610	1	0
PNPLA1	285848	broad.mit.edu	37	6	36270045	36270045	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:36270045G>A	uc010jwf.2	+	5	1183	c.1183G>A	c.(1183-1185)Gga>Aga	p.G395R	PNPLA1_uc010jwe.1_Missense_Mutation_p.G309R|PNPLA1_uc003olw.1_Missense_Mutation_p.G300R	NM_001145717	NP_775947	Q8N8W4	PLPL1_HUMAN	Homo sapiens patatin-like phospholipase domain containing 1 (PNPLA1), transcript variant 3, mRNA.	395	Pro-rich.				lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						CCCACCACCTGGACTGTCACC	0.582000											OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		50			32		0	0	0.003271	0	0
EXOC3L2	90332	broad.mit.edu	37	19	45730953	45730953	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:45730953G>A	uc002pay.1	-	4	412	c.371C>T	c.(370-372)aCc>aTc	p.T124I		NM_138568	NP_612635	Q2M3D2	EX3L2_HUMAN	Homo sapiens exocyst complex component 3-like 2 (EXOC3L2), mRNA.	124										endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		CAGGGCGATGGTCTTGCTGAT	0.602000														25			20		0	0	0.003954	0	0
APOB	338	broad.mit.edu	37	2	21231816	21231816	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:21231816G>A	uc002red.3	-	25	8052	c.7924C>T	c.(7924-7926)Cca>Tca	p.P2642S		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2642					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	p.I2641L(1)		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)	AACCTGGATGGGATTTTTATA	0.358000														103			101		0	0	0.003610	0	0
TET2	54790	broad.mit.edu	37	4	106156519	106156520	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:106156519_106156520CC>TT	uc011cez.2	+	2	1888_1889	c.1483_1484CC>TT	c.(1483-1485)ccg>TTg	p.P495L	TET2_uc003hxk.3_Missense_Mutation_p.P474L|TET2_uc003hxj.2_Non-coding_Transcript|TET2_uc021xqk.1_Missense_Mutation_p.P474L|TET2_uc010ilp.2_Missense_Mutation_p.P474L|TET2_uc021xql.1_Missense_Mutation_p.P474L	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	Homo sapiens tet methylcytosine dioxygenase 2 (TET2), transcript variant 1, mRNA.	474					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		CAGCCCTTCTCCGATGCTTTCT	0.436000			"""Mis N, F"""		MDS									53			10		0	0	0.004672	0	0
ANK2	287	broad.mit.edu	37	4	114279819	114279819	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:114279819C>T	uc003ibe.4	+	37	10145	c.10045C>T	c.(10045-10047)Cct>Tct	p.P3349S	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.P3364S	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	3316					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.P3349L(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GTCCAAACTCCCTGTCAAAGT	0.468000														25			17		0	0	0.001216	0	0
MAP2K7	5609	broad.mit.edu	37	19	7977296	7977296	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:7977296C>T	uc002mit.3	+	10	1305	c.1240C>T	c.(1240-1242)Cac>Tac	p.H414Y	MAP2K7_uc002miv.2_Missense_Mutation_p.H421Y|MAP2K7_uc010xka.1_Non-coding_Transcript|MAP2K7_uc010dvv.3_Missense_Mutation_p.H289Y|MAP2K7_uc010xkb.2_Missense_Mutation_p.H421Y	NM_145185	NP_660186	O14733	MP2K7_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 7 (MAP2K7), mRNA.	414					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of JUN kinase activity|innate immune response|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19					Etoposide(DB00773)	GAGCCAGCCCCACCTGCCCTT	0.682000														14			7		0	0	0.001984	0	0
NTHL1	4913	broad.mit.edu	37	16	2097869	2097869	+	Splice_Site	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:2097869C>T	uc002col.1	-	1	1	c.-18_splice	c.e1-1		TCRBV20S1_uc021tak.1_Intron|TSC2_uc010uvu.1_5'Flank|TSC2_uc002con.3_5'Flank|TSC2_uc010bsd.3_5'Flank|TSC2_uc002coo.3_5'Flank|TSC2_uc010uvv.2_5'Flank|TSC2_uc010uvw.2_5'Flank|TSC2_uc002cop.3_5'Flank	NM_002528	NP_002519	P78549	NTHL1_HUMAN	Homo sapiens nth endonuclease III-like 1 (E. coli) (NTHL1), mRNA.						depyrimidination|nucleotide-excision repair, DNA incision, 5'-to lesion	nucleoplasm	4 iron, 4 sulfur cluster binding|double-stranded DNA binding|endonuclease activity|metal ion binding|oxidized pyrimidine base lesion DNA N-glycosylase activity|protein binding			lung(1)	1						CATGCGGCCCCGTCACGTGAT	0.697000								Base excision repair (BER), DNA glycosylases						3			4		0	0	0.000248	0	0
LAMA1	284217	broad.mit.edu	37	18	6975951	6975951	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:6975951G>A	uc002knm.3	-	44	6568	c.6474C>T	c.(6472-6474)ctC>ctT	p.L2158L	LAMA1_uc010wzj.2_Silent_p.L1634L	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	2158	Laminin G-like 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGCTGCTACCGAGGTAGAAGA	0.403000														47			21		0	0	0.003330	0	0
CES5A	221223	broad.mit.edu	37	16	55886805	55886805	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:55886805G>A	uc021tir.1	-	10	1494	c.1348C>T	c.(1348-1350)Cga>Tga	p.R450*	CES5A_uc002eip.2_Nonsense_Mutation_p.R421*|CES5A_uc002eio.2_Nonsense_Mutation_p.R421*|CES5A_uc002eiq.2_Nonsense_Mutation_p.R182*|CES5A_uc002eir.2_Nonsense_Mutation_p.R315*	NM_001190158	NP_001177087	Q6NT32	EST5A_HUMAN	Homo sapiens carboxylesterase 5A (CES5A), transcript variant 3, mRNA.	421						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	p.G449R(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CTGTGATATCGAGCTGTGATC	0.517000														4			25		0	0	0.003954	0	0
CAPN9	10753	broad.mit.edu	37	1	230923331	230923331	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:230923331G>A	uc001htz.1	+	12	1695	c.1582G>A	c.(1582-1584)Gaa>Aaa	p.E528K	CAPN9_uc009xfg.1_Missense_Mutation_p.E465K|CAPN9_uc001hua.1_Missense_Mutation_p.E502K	NM_006615	NP_006606	O14815	CAN9_HUMAN	Homo sapiens calpain 9 (CAPN9), transcript variant 1, mRNA.	528	Domain IV.|EF-hand 1.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				GGCTCTGTTTGAACAAGTCGC	0.552000														45			7		0	0	0.003080	0	0
NOTCH4	4855	broad.mit.edu	37	6	32169935	32169936	+	Missense_Mutation	DNP	GG	AA	AA	rs142477287		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:32169935_32169936GG>AA	uc003obb.3	-	20	3811_3812	c.3672_3673CC>TT	c.(3670-3675)ttccgg>ttTTgg	p.R1225W	NOTCH4_uc003oba.3_5'UTR|NOTCH4_uc011dpu.2_Intron|NOTCH4_uc011dpv.2_Intron	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	1225					Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	p.F1224F(2)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TGCCCGTCCCGGAAGAGAAGCC	0.624000														66			86		0	0	0.004672	0	0
DNM1L	10059	broad.mit.edu	37	12	32832265	32832265	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:32832265C>T	uc010skh.1	+	0	129	c.127C>T	c.(127-129)Cgg>Tgg	p.R43W	DNM1L_uc010skf.1_Non-coding_Transcript|DNM1L_uc010skg.1_Non-coding_Transcript|DNM1L_uc001rld.2_5'UTR|DNM1L_uc001rle.2_5'UTR|DNM1L_uc001rlf.2_5'UTR|DNM1L_uc001rlg.2_Missense_Mutation_p.R43W|DNM1L_uc001rlh.2_Missense_Mutation_p.R43W|DNM1L_uc010ski.1_5'UTR	NM_012062	NP_036192	O00429	DNM1L_HUMAN	Homo sapiens dynamin 1-like (DNM1L), transcript variant 1, mRNA.	132	GTPase domain.				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TTGCCGTGGCCGGCGGGCACT	0.652000														6			8		0	0	0.003080	0	0
MUC16	94025	broad.mit.edu	37	19	9091160	9091160	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:9091160C>T	uc002mkp.3	-	0	859	c.655G>A	c.(655-657)Gac>Aac	p.D219N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	219	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						GTATGTGAGTCAGTAACTGTG	0.438000														37			37		0	0	0.002522	0	0
ZNF827	152485	broad.mit.edu	37	4	146824219	146824219	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:146824219G>A	uc003ikn.3	-	1	240	c.192C>T	c.(190-192)tcC>tcT	p.S64S	ZNF827_uc003ikm.3_Silent_p.S64S|ZNF827_uc010iox.3_Intron	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	Homo sapiens zinc finger protein 827 (ZNF827), mRNA.	64					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					CCGGGGACGTGGACTGCTCCT	0.572000														28			41		0	0	0.007835	0	0
CXorf57	55086	broad.mit.edu	37	X	105875872	105875872	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:105875872C>T	uc004emi.4	+	3	1148	c.997C>T	c.(997-999)Cga>Tga	p.R333*	CXorf57_uc004emj.4_Nonsense_Mutation_p.R333*|CXorf57_uc004emh.2_Nonsense_Mutation_p.R333*	NM_018015	NP_060485	Q6NSI4	CX057_HUMAN	Homo sapiens chromosome X open reading frame 57 (CXorf57), transcript variant 1, mRNA.	333										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						CCTGAATCTTCGAGATCCCCC	0.303000														0			16		0	0	0.006122	0	0
ATXN2L	11273	broad.mit.edu	37	16	28841344	28841344	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:28841344G>A	uc002dqy.3	+	7	1166	c.999G>A	c.(997-999)caG>caA	p.Q333Q	NPIPL1_uc010vct.2_Intron|ATXN2L_uc010byl.1_Silent_p.Q333Q|ATXN2L_uc002dqz.3_Silent_p.Q333Q|ATXN2L_uc002dra.3_Silent_p.Q333Q|ATXN2L_uc002drb.3_Silent_p.Q333Q|ATXN2L_uc002drc.3_Silent_p.Q333Q|ATXN2L_uc010vdb.2_Silent_p.Q333Q|ATXN2L_uc002dre.3_Silent_p.Q333Q|ATXN2L_uc002drf.3_5'UTR	NM_148414	NP_680780	Q8WWM7	ATX2L_HUMAN	Homo sapiens ataxin 2-like (ATXN2L), transcript variant C, mRNA.	333						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TCCAGCGGCAGGGCTCAGGGC	0.612000														13			7		0	0	0.003080	0	0
STK39	27347	broad.mit.edu	37	2	169023827	169023827	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:169023827T>G	uc002uea.3	-	2	572	c.412A>C	c.(412-414)Atg>Ctg	p.M138L		NM_013233	NP_037365	Q9UEW8	STK39_HUMAN	Homo sapiens serine threonine kinase 39 (STK39), mRNA.	138	Protein kinase.				response to stress	cytoplasm|nucleus	ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	13						AGTAATTTCATGACCAGCCAA	0.373000														18			5		0	0	0.001984	0	0
GRIP1	23426	broad.mit.edu	37	12	66923667	66923667	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:66923667C>T	uc001stk.3	-	4	687	c.446G>A	c.(445-447)cGa>cAa	p.R149Q	GRIP1_uc010sta.1_Missense_Mutation_p.R93Q|GRIP1_uc001stm.3_Missense_Mutation_p.R149Q|GRIP1_uc001stl.1_Missense_Mutation_p.R93Q	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA.	149					androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CTCCACTGTTCGGAAAATAAC	0.328000														17			22		0	0	0.003330	0	0
PTX4	390667	broad.mit.edu	37	16	1536522	1536522	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:1536522G>A	uc010uvf.2	-	2	840	c.840C>T	c.(838-840)ttC>ttT	p.F280F		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	Homo sapiens pentraxin 4, long (PTX4), mRNA.	285	Pentaxin.					extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						CAGGGCTGAGGAAGACCACGT	0.667000														34			26		0	0	0.007291	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140764012	140764012	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:140764012G>A	uc003lka.2	+	0	1546	c.1546G>A	c.(1546-1548)Gcg>Acg	p.A516T	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_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003ljz.1_Missense_Mutation_p.A516T	NM_018920	NP_061743	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 7 (PCDHGA7), transcript variant 1, mRNA.	518	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)			AGTCCTGTACGCGCTGCAATC	0.517000														20			7		0	0	0.003080	0	0
GAS2L2	246176	broad.mit.edu	37	17	34072969	34072969	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:34072969C>T	uc002hjv.2	-	5	1575	c.1547G>A	c.(1546-1548)gGa>gAa	p.G516E		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	516					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AAAGCTCCTTCCTGGTGTTGG	0.612000														29			26		0	0	0.003954	0	0
FRG1B	284802	broad.mit.edu	37	20	29628251	29628251	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:29628251A>G	uc010ztl.1	+	2	195	c.163A>G	c.(163-165)Aat>Gat	p.N55D	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.N7D					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.N85D(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTTGGCCTCAAATAGCTGCTT	0.358000														38			6		0	0	0.006214	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41061756	41061756	+	Silent	SNP	C	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:41061756C>G	uc003jmj.4	-	5	1021	c.531G>C	c.(529-531)ctG>ctC	p.L177L	HEATR7B2_uc021xxt.1_Silent_p.L177L	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	177							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						GGTTGGCATCCAGTCTGGGGT	0.483000														51			37		0	0	0.004289	0	0
SHANK3	85358	broad.mit.edu	37	22	51143463	51143464	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:51143463_51143464CC>TT	uc003bne.1	+	16	2016_2017	c.2016_2017CC>TT	c.(2014-2019)cgcctc>cgTTtc	p.L673F	SHANK3_uc003bnf.1_Missense_Mutation_p.L128F	NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 3 (SHANK3), mRNA.	673										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		GTGGCAACCGCCTCGTCATGAA	0.614000														32			29		0	0	0.004672	0	0
UBE2O	63893	broad.mit.edu	37	17	74391899	74391899	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:74391899G>A	uc002jrm.4	-	14	2918	c.2853C>T	c.(2851-2853)gcC>gcT	p.A951A	UBE2O_uc002jrn.4_3'UTR|UBE2O_uc002jrl.4_Silent_p.A555A	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2O (UBE2O), mRNA.	951							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						AGAACTTCTTGGCTTCTGGAG	0.498000														66			41		0	0	0.003610	0	0
OS9	10956	broad.mit.edu	37	12	58112151	58112151	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:58112151C>T	uc001spj.3	+	10	1564	c.1357C>T	c.(1357-1359)Cgt>Tgt	p.R453C	OS9_uc010srx.2_Missense_Mutation_p.R247C|OS9_uc001spk.3_Missense_Mutation_p.R453C|OS9_uc001spl.3_Missense_Mutation_p.R453C|OS9_uc001spm.3_Missense_Mutation_p.R453C|OS9_uc001spn.3_Missense_Mutation_p.R454C|OS9_uc010sry.2_Missense_Mutation_p.R421C|OS9_uc010srz.2_Missense_Mutation_p.R394C	NM_006812	NP_006803	Q13438	OS9_HUMAN	Homo sapiens osteosarcoma amplified 9, endoplasmic reticulum lectin (OS9), transcript variant 1, mRNA.	453					ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	Hrd1p ubiquitin ligase complex|endoplasmic reticulum lumen	glycoprotein binding|protein binding|sugar binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			AGACCGGCTCCGTTCGGAGGT	0.572000														20			32		0	0	0.006230	0	0
UNC79	57578	broad.mit.edu	37	14	94120130	94120130	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:94120130C>T	uc001ybv.1	+	34	5861	c.5778C>T	c.(5776-5778)ttC>ttT	p.F1926F	UNC79_uc001ybs.1_Silent_p.F1904F	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	2081						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CCAAGCAGTTCCTGCGCTGCA	0.567000														143			116		0	0	0.003610	0	0
CATSPERB	79820	broad.mit.edu	37	14	92055886	92055886	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:92055886C>T	uc001xzs.1	-	23	3088	c.2948G>A	c.(2947-2949)tGg>tAg	p.W983*	CATSPERB_uc010aub.1_Nonsense_Mutation_p.W505*	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	983					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				ACTCAGTTTCCAGTTGTGCCT	0.373000														24			26		0	0	0.007291	0	0
GPR139	124274	broad.mit.edu	37	16	20043411	20043411	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:20043411G>A	uc002dgu.1	-	1	870	c.708C>T	c.(706-708)atC>atT	p.I236I	GPR139_uc010vaw.1_Silent_p.I143I	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA.	236						integral to membrane|plasma membrane		p.S235Y(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						GTGTGGCAAAGATGGAGGTAA	0.527000														37			35		0	0	0.003271	0	0
TRPC7	57113	broad.mit.edu	37	5	135587470	135587470	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:135587470G>A	uc003lbn.2	-	5	1668	c.1446C>T	c.(1444-1446)ttC>ttT	p.F482F	TRPC7_uc010jef.2_Silent_p.F418F|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_Silent_p.F33F|TRPC7_uc010jeh.2_Silent_p.F421F|TRPC7_uc010jei.2_Silent_p.F366F	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	482					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGGAGGCCACGAAGATGGACA	0.572000														28			15		0	0	0.006122	0	0
SPTB	6710	broad.mit.edu	37	14	65259764	65259764	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:65259764C>T	uc001xht.3	-	12	2668	c.2617G>A	c.(2617-2619)Gag>Aag	p.E873K	SPTB_uc001xhr.3_Missense_Mutation_p.E873K|SPTB_uc001xhs.3_Missense_Mutation_p.E873K|SPTB_uc001xhu.3_Missense_Mutation_p.E873K	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	873					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		ATTTCCATCTCGGCCAGCCAC	0.602000														1			19		0	0	0.001882	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41004599	41004599	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:41004599G>A	uc003jmj.4	-	36	4533	c.4043C>T	c.(4042-4044)tCt>tTt	p.S1348F	HEATR7B2_uc003jmi.4_Missense_Mutation_p.S903F	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1348							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						TCTGATGATAGATTCTAGCAT	0.423000														18			25		0	0	0.005443	0	0
ABCA3	21	broad.mit.edu	37	16	2347481	2347481	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:2347481C>T	uc002cpy.1	-	16	2824	c.2112G>A	c.(2110-2112)tgG>tgA	p.W704*	ABCA3_uc010bsk.1_Nonsense_Mutation_p.W646*|ABCA3_uc010bsl.1_Nonsense_Mutation_p.W704*	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.	704	ABC transporter 1.				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.I703M(1)		breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				GAAGAAGATCCCAGATGGCCC	0.617000														59			37		0	0	0.007835	0	0
ARID4B	51742	broad.mit.edu	37	1	235384943	235384943	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:235384943T>C	uc021pks.1	-	13	1477	c.1100A>G	c.(1099-1101)cAa>cGa	p.Q367R	ARID4B_uc001hwq.3_Missense_Mutation_p.Q367R|ARID4B_uc001hwr.3_Missense_Mutation_p.Q367R|ARID4B_uc001hws.4_Missense_Mutation_p.Q367R|ARID4B_uc001hwt.4_Missense_Mutation_p.Q48R	NM_001206794	NP_001193723	Q4LE39	ARI4B_HUMAN	Homo sapiens AT rich interactive domain 4B (RBP1-like) (ARID4B), transcript variant 3, mRNA.	367	ARID.|Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TCCAAGATCTTGGTAGACTTG	0.294000														46			10		0	0	0.003163	0	0
PCNX	22990	broad.mit.edu	37	14	71555960	71555960	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:71555960C>T	uc001xmo.2	+	29	5936	c.5490C>T	c.(5488-5490)ttC>ttT	p.F1830F	PCNX_uc010are.1_Silent_p.F1719F|PCNX_uc010arf.1_Silent_p.F618F	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA.	1830						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		AAGGAGATTTCCGTATTTCTT	0.373000														26			18		0	0	0.001216	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81065958	81065958	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:81065958C>T	uc001kaf.2	+	21	3097	c.2525C>T	c.(2524-2526)tCc>tTc	p.S842F	ZMIZ1_uc001kag.2_Missense_Mutation_p.S718F|ZMIZ1_uc010qlq.1_5'UTR	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.	842					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			GGCATCCCCTCCAAGCGGTTC	0.612000														15			16		0	0	0.003163	0	0
CYP11B1	1584	broad.mit.edu	37	8	143957150	143957150	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:143957150C>T	uc010mey.3	-	7	1319	c.1312G>A	c.(1312-1314)Gcg>Acg	p.A438T	CYP11B1_uc010mex.3_Missense_Mutation_p.A43T|CYP11B1_uc003yxh.3_Missense_Mutation_p.A83T|CYP11B1_uc003yxi.3_Missense_Mutation_p.A367T|CYP11B1_uc003yxj.3_Missense_Mutation_p.A367T	NM_000497	NP_000488	P15538	C11B1_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	367					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	TTGAGGGCCGCACGCAGCAAG	0.692000									Familial Hyperaldosteronism type I					48			9		0	0	0.002450	0	0
GLI2	2736	broad.mit.edu	37	2	121747404	121747404	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:121747404C>T	uc010flp.3	+	12	3944	c.3914C>T	c.(3913-3915)cCc>cTc	p.P1305L	GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.4_Missense_Mutation_p.P977L|GLI2_uc002tmu.4_Missense_Mutation_p.P960L	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	1305					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CTTGGGGTCCCCGATTCAGCC	0.637000														7			6		0	0	0.001984	0	0
ITGAE	3682	broad.mit.edu	37	17	3661033	3661033	+	Silent	SNP	G	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:3661033G>T	uc002fwo.4	-	8	1086	c.987C>A	c.(985-987)ccC>ccA	p.P329P		NM_002208	NP_002199	P38570	ITAE_HUMAN	Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA.	329	VWFA.				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		CCTGCATTTTGGGGGAGTTGA	0.592000														172			6		0.00198382	0.00272959	0.001984	1	0
RNMTL1	55178	broad.mit.edu	37	17	695284	695284	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:695284T>A	uc002frw.3	+	3	1344	c.1238T>A	c.(1237-1239)tTg>tAg	p.L413*		NM_018146	NP_060616	Q9HC36	RMTL1_HUMAN	Homo sapiens RNA methyltransferase like 1 (RNMTL1), mRNA.	413					RNA processing		RNA binding|RNA methyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)		GCGGAGGACTTGAGCAGGGAC	0.607000														28			12		0	0	0.001368	0	0
NSMCE1	197370	broad.mit.edu	37	16	27244394	27244394	+	Silent	SNP	T	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:27244394T>C	uc002doi.1	-	4	509	c.411A>G	c.(409-411)aaA>aaG	p.K137K	NSMCE1_uc002doj.1_Non-coding_Transcript	NM_145080	NP_659547	Q8WV22	NSE1_HUMAN	Homo sapiens non-SMC element 1 homolog (S. cerevisiae) (NSMCE1), mRNA.	137					DNA recombination|DNA repair|intracellular signal transduction	nucleus	zinc ion binding			endometrium(2)|large_intestine(2)|lung(3)	7						TCTTCTTGCCTTTAAGTTGAT	0.453000														46			44		0	0	0.003214	0	0
TXNDC15	79770	broad.mit.edu	37	5	134223701	134223701	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:134223701C>T	uc003lac.1	+	1	1078	c.420C>T	c.(418-420)ttC>ttT	p.F140F	TXNDC15_uc010jdy.1_Intron	NM_024715	NP_078991	Q96J42	TXD15_HUMAN	Homo sapiens thioredoxin domain containing 15 (TXNDC15), mRNA.	140					cell redox homeostasis	integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GAGCACACTTCCCTGACAGAG	0.562000														27			14		0	0	0.003163	0	0
ADCK1	57143	broad.mit.edu	37	14	78365484	78365484	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:78365484G>A	uc001xui.3	+	5	723	c.624G>A	c.(622-624)gaG>gaA	p.E208E	ADCK1_uc010tvo.1_Non-coding_Transcript|ADCK1_uc001xuj.3_Silent_p.E140E|ADCK1_uc001xuk.1_Silent_p.E82E	NM_020421	NP_065154	Q86TW2	ADCK1_HUMAN	Homo sapiens aarF domain containing kinase 1 (ADCK1), transcript variant 1, mRNA.	215	Protein kinase.					extracellular region	ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		CAGAGTTTGAGTTTATGTGGC	0.512000														74			64		0	0	0.003610	0	0
RIN2	54453	broad.mit.edu	37	20	19981314	19981314	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:19981314C>T	uc002wro.2	+	11	2718	c.2569C>T	c.(2569-2571)Ctt>Ttt	p.L857F	RIN2_uc010gcu.2_Missense_Mutation_p.L375F|RIN2_uc010gcv.2_Missense_Mutation_p.L602F	NM_001242581	NP_001229510	Q8WYP3	RIN2_HUMAN	Homo sapiens Ras and Rab interactor 2 (RIN2), transcript variant 1, mRNA.	808	Ras-associating.				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						AAAGACCCTCCTTGTGAGACC	0.498000														75			55		0	0	0.003610	0	0
MRPL45	84311	broad.mit.edu	37	17	36474633	36474633	+	Splice_Site	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:36474633C>T	uc002hpy.3	+	5	671	c.510_splice	c.e5+1	p.P170_splice		NM_032351	NP_115727	Q9BRJ2	RM45_HUMAN	Homo sapiens mitochondrial ribosomal protein L45 (MRPL45), nuclear gene encoding mitochondrial protein, mRNA.	170					intracellular protein transport|translation	mitochondrial inner membrane presequence translocase complex|ribosome	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome			breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CACTGTTTTCCAGTAAGTTCT	0.378000														50			35		0	0	0.002222	0	0
C1orf173	127254	broad.mit.edu	37	1	75086491	75086491	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:75086491A>C	uc001dgg.3	-	7	1146	c.927T>G	c.(925-927)gaT>gaG	p.D309E	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Missense_Mutation_p.D103E	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	309										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTTTAATTTCATCCCGGAAGT	0.353000														10			40		0	0	0.002852	0	0
XIRP1	165904	broad.mit.edu	37	3	39225636	39225636	+	Silent	SNP	G	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:39225636G>C	uc003cjk.2	-	1	5530	c.5301C>G	c.(5299-5301)acC>acG	p.T1767T	XIRP1_uc003cji.3_3'UTR|XIRP1_uc003cjj.3_Silent_p.T450T|XIRP1_uc021wvz.1_Silent_p.T1767T	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	1767	Interaction with FLNC.						actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GTTCAGTCACGGTTCTCATGG	0.592000														89			27		0	0	0.001786	0	0
IGSF9	57549	broad.mit.edu	37	1	159898223	159898223	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:159898223C>T	uc001fur.2	-	18	3153	c.2955G>A	c.(2953-2955)gtG>gtA	p.V985V	IGSF9_uc001fuq.2_Silent_p.V969V|TAGLN2_uc001fun.1_5'Flank|TAGLN2_uc010piy.1_5'Flank|IGSF9_uc001fup.2_Silent_p.V131V	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	Homo sapiens immunoglobulin superfamily, member 9 (IGSF9), transcript variant 1, mRNA.	985						cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			CAGCCCCTACCACAGCCCCAG	0.632000														1			10		0	0	0.001368	0	0
TMEM173	340061	broad.mit.edu	37	5	138861082	138861082	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:138861082G>A	uc003lep.3	-	2	510	c.208C>T	c.(208-210)Ctg>Ttg	p.L70L		NM_198282	NP_938023	Q86WV6	TM173_HUMAN	Homo sapiens transmembrane protein 173 (TMEM173), nuclear gene encoding mitochondrial protein, mRNA.	70					activation of innate immune response|apoptosis|cellular response to exogenous dsRNA|defense response to virus|innate immune response|interferon-beta production|positive regulation of defense response to virus by host|positive regulation of protein binding|positive regulation of protein import into nucleus, translocation|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane|perinuclear region of cytoplasm|plasma membrane	protein homodimerization activity|protein kinase binding|transcription factor binding			endometrium(1)|kidney(1)|lung(6)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ATGTGGCGCAGCTCCTCAGCC	0.617000														35			19		0	0	0.001882	0	0
KIF6	221458	broad.mit.edu	37	6	39330294	39330294	+	Splice_Site	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:39330294C>T	uc003oot.2	-	17	1957	c.1862_splice	c.e17-1	p.G621_splice	KIF6_uc003oos.2_Splice_Site_p.G72_splice|KIF6_uc010jwz.1_Splice_Site|KIF6_uc010jxa.1_Splice_Site_p.G412_splice|KIF6_uc011dua.1_Splice_Site_p.G604_splice|KIF6_uc010jxb.1_Splice_Site_p.G565_splice	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	Homo sapiens kinesin family member 6 (KIF6), mRNA.	621					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TTCCGAGATTCCTGTAGAAGG	0.498000											OREG0017415	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		77			71		0	0	0.003610	0	0
KCNB2	9312	broad.mit.edu	37	8	73849436	73849436	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:73849436A>C	uc003xzb.3	+	2	2434	c.1846A>C	c.(1846-1848)Aca>Cca	p.T616P		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	616					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CTTCACAGAGACAGAGAGATC	0.612000														44			20		0	0	0.001216	0	0
ANKRD5	63926	broad.mit.edu	37	20	10023879	10023879	+	Silent	SNP	A	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:10023879A>C	uc002wno.3	+	3	849	c.456A>C	c.(454-456)atA>atC	p.I152I	LOC100131208_uc002wnn.2_Intron|ANKRD5_uc002wnp.3_Silent_p.I152I|ANKRD5_uc010gbz.3_5'UTR	NM_022096	NP_942093	Q9NU02	ANKR5_HUMAN	Homo sapiens ankyrin repeat domain 5 (ANKRD5), transcript variant 1, mRNA.	152							calcium ion binding			breast(2)|endometrium(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	37						GAAAGCCAATATTCCTTAGAG	0.413000														35			23		0	0	0.002780	0	0
COL25A1	84570	broad.mit.edu	37	4	109783699	109783699	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:109783699C>T	uc021xqo.1	-	20	1211	c.1155G>A	c.(1153-1155)ggG>ggA	p.G385G	COL25A1_uc003hze.1_Silent_p.G385G|COL25A1_uc021xqp.1_Silent_p.G385G|COL25A1_uc003hzg.3_Silent_p.G385G|COL25A1_uc003hzd.3_Non-coding_Transcript|COL25A1_uc003hzf.3_Intron	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	Homo sapiens collagen, type XXV, alpha 1 (COL25A1), transcript variant 1, mRNA.	385	Collagen-like 5.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CACCTTGTTTCCCCTATTACA	0.343000														139			76		0	0	0.003610	0	0
CSMD2	114784	broad.mit.edu	37	1	34209029	34209029	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:34209029C>T	uc001bxm.1	-	13	2202	c.2025G>A	c.(2023-2025)aaG>aaA	p.K675K	CSMD2_uc001bxn.1_Silent_p.K635K	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	635	CUB 4.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGGCCCCATCCTTGATGACCA	0.617000														65			16		0	0	0.004007	0	0
PLXNB2	23654	broad.mit.edu	37	22	50728219	50728219	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:50728219C>A	uc003bkv.4	-	2	888	c.795G>T	c.(793-795)caG>caT	p.Q265H		NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	265	Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGTCCCGGCACTGCAGGTCCA	0.647000														20			11		2.27111e-07	3.14263e-07	0.001368	1	0
CRYAA	1409	broad.mit.edu	37	21	44590650	44590650	+	Silent	SNP	C	T	T	rs61735855	byFrequency	TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr21:44590650C>T	uc002zdd.1	+	1	282	c.213C>T	c.(211-213)ttC>ttT	p.F71F		NM_000394	NP_000385	P02489	CRYAA_HUMAN	Homo sapiens crystallin, alpha A (CRYAA), mRNA.	71					anti-apoptosis|negative regulation of intracellular transport|protein homooligomerization|response to heat|visual perception	cytoplasm|nucleus	structural constituent of eye lens|unfolded protein binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						GGGACAAGTTCGTCATCTTCC	0.607000														30			23		0	0	0.002780	0	0
MUC7	4589	broad.mit.edu	37	4	71339741	71339741	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:71339741G>A	uc011cat.2	+	2	291	c.3G>A	c.(1-3)atG>atA	p.M1I	MUC7_uc011cau.2_Missense_Mutation_p.M1I|MUC7_uc003hfj.3_Missense_Mutation_p.M1I	NM_001145006	NP_689504	Q8TAX7	MUC7_HUMAN	Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA.	1						extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CAGAAAGAATGAAAACTCTGC	0.363000														20			27		0	0	0.001512	0	0
RIN1	9610	broad.mit.edu	37	11	66099971	66099971	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:66099971G>A	uc001ohn.1	-	9	2255	c.2128C>T	c.(2128-2130)Cag>Tag	p.Q710*	RIN1_uc010roy.1_Nonsense_Mutation_p.Q341*|RIN1_uc009yrd.1_Nonsense_Mutation_p.Q403*|RIN1_uc010roz.1_Nonsense_Mutation_p.Q605*|RIN1_uc010rpa.1_Nonsense_Mutation_p.Q544*	NM_004292	NP_004283	Q13671	RIN1_HUMAN	Homo sapiens Ras and Rab interactor 1 (RIN1), mRNA.	710	Ras and 14-3-3 protein binding region.				endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						ACAGCCCCCTGGGTCTCAGGC	0.687000														65			64		0	0	0.003610	0	0
PABPC1P2	728773	broad.mit.edu	37	2	147346292	147346292	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:147346292T>A	uc002twf.4	+	0	1668	c.752T>A	c.(751-753)cTa>cAa	p.L251Q						Homo sapiens poly(A) binding protein, cytoplasmic 1 pseudogene 2 (PABPC1P2), non-coding RNA.																		ATTGCTCAACTAAGACCAAGT	0.512000														20			10		0	0	0.000978	0	0
NR5A2	2494	broad.mit.edu	37	1	199997000	199997000	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:199997000G>A	uc001gvb.3	+	0	231	c.25G>A	c.(25-27)Gat>Aat	p.D9N	NR5A2_uc001gvc.3_Missense_Mutation_p.D9N|NR5A2_uc009wzg.1_Non-coding_Transcript	NM_205860	NP_995582	O00482	NR5A2_HUMAN	Homo sapiens nuclear receptor subfamily 5, group A, member 2 (NR5A2), transcript variant 1, mRNA.	9					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					AGATACTGGGGATTTACAAGA	0.328000														46			15		0	0	0.001523	0	0
NWD1	284434	broad.mit.edu	37	19	16861191	16861191	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:16861191G>A	uc002neu.4	+	5	2160	c.1738G>A	c.(1738-1740)Gcc>Acc	p.A580T	NWD1_uc002net.4_Missense_Mutation_p.A445T|NWD1_uc002nev.4_Missense_Mutation_p.A374T|NWD1_uc021uqg.1_Missense_Mutation_p.A445T	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	580	NACHT.						ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCTCCTCGTGGCCCACGTGCT	0.517000														11			9		0	0	0.001368	0	0
SLC14A1	6563	broad.mit.edu	37	18	43310332	43310332	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:43310332T>C	uc010dnk.3	+	3	437	c.215T>C	c.(214-216)gTt>gCt	p.V72A	SLC14A1_uc002lbi.4_Intron|SLC14A1_uc010xcn.2_Missense_Mutation_p.V16A|SLC14A1_uc002lbf.4_Missense_Mutation_p.V16A|SLC14A1_uc002lbg.4_Non-coding_Transcript|SLC14A1_uc010xco.2_Intron|SLC14A1_uc002lbh.4_Intron|SLC14A1_uc002lbj.4_Missense_Mutation_p.V72A|SLC14A1_uc002lbk.4_Missense_Mutation_p.V16A|SLC14A1_uc021ujg.1_Missense_Mutation_p.V16A	NM_001128588	NP_056949	Q13336	UT1_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 1 (Kidd blood group) (SLC14A1), transcript variant 1, mRNA.	16						integral to plasma membrane	urea transmembrane transporter activity	p.V72I(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						CCCACTATGGTTAGGGGTGAA	0.517000														17			15		0	0	0.003163	0	0
KRT7	3855	broad.mit.edu	37	12	52627350	52627350	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:52627350G>A	uc001saa.1	+	0	397	c.270G>A	c.(268-270)gaG>gaA	p.E90E		NM_005556	NP_005547	P08729	K2C7_HUMAN	Homo sapiens keratin 7 (KRT7), mRNA.	90	Coil 1A.|Head.				DNA replication|cytoskeleton organization|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)		TGCGCCAGGAGGAGAGCGAGC	0.677000														13			22		0	0	0.003330	0	0
MMP2	4313	broad.mit.edu	37	16	55516911	55516912	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:55516911_55516912GG>AA	uc002ehz.4	+	1	555_556	c.244_245GG>AA	c.(244-246)gga>AAa	p.G82K	MMP2_uc010vhd.2_Missense_Mutation_p.G6K|MMP2_uc010ccc.3_Missense_Mutation_p.G32K	NM_004530	NP_004521	P08253	MMP2_HUMAN	Homo sapiens matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) (MMP2), transcript variant 1, mRNA.	82					angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	GAAGTTCTTTGGACTGCCCCAG	0.515000														4			23		0	0	0.004672	0	0
TRPC7	57113	broad.mit.edu	37	5	135692453	135692453	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:135692453C>A	uc003lbn.2	-	1	845	c.623G>T	c.(622-624)cGg>cTg	p.R208L	TRPC7_uc010jef.2_Missense_Mutation_p.R199L|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_5'UTR|TRPC7_uc010jeh.2_Missense_Mutation_p.R208L|TRPC7_uc010jei.2_Missense_Mutation_p.R208L	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	208					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGAGTCTTTCCGCTGTTTCTC	0.597000														17			15		2.61681e-11	3.64558e-11	0.002450	1	0
GRIN2A	2903	broad.mit.edu	37	16	9934906	9934906	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:9934906C>T	uc010uym.2	-	6	1694	c.1384G>A	c.(1384-1386)Gat>Aat	p.D462N	GRIN2A_uc002czo.4_Missense_Mutation_p.D462N|GRIN2A_uc010uyn.2_Missense_Mutation_p.D305N|GRIN2A_uc002czr.4_Missense_Mutation_p.D462N	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	462					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.I461F(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TTCAGAATATCAATGCAGAAC	0.428000														14			22		0	0	0.003954	0	0
CREB3L3	84699	broad.mit.edu	37	19	4157214	4157214	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:4157214C>T	uc002lzl.3	+	2	495	c.379C>T	c.(379-381)Cat>Tat	p.H127Y	CREB3L3_uc002lzm.3_Missense_Mutation_p.H117Y|CREB3L3_uc010xib.2_Missense_Mutation_p.H118Y|CREB3L3_uc010xic.2_Missense_Mutation_p.H118Y	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 3 (CREB3L3), mRNA.	127					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCTCCTATCATCCTGGCAA	0.657000														45			31		0	0	0.004289	0	0
PRKCI	5584	broad.mit.edu	37	3	169998140	169998140	+	Silent	SNP	T	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:169998140T>C	uc003fgs.2	+	8	1069	c.831T>C	c.(829-831)gaT>gaC	p.D277D		NM_002740	NP_002731	P41743	KPCI_HUMAN	Homo sapiens protein kinase C, iota (PRKCI), mRNA.	277	Protein kinase.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			AAAAAACAGATCGTATTTATG	0.353000														14			23		0	0	0.003330	0	0
FRMD4B	23150	broad.mit.edu	37	3	69245538	69245538	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:69245538G>A	uc003dnv.2	-	13	1392	c.1102C>T	c.(1102-1104)Cct>Tct	p.P368S	FRMD4B_uc003dnw.2_Intron|FRMD4B_uc003dnu.2_Missense_Mutation_p.P20S|FRMD4B_uc011bga.1_Missense_Mutation_p.P212S	NM_015123	NP_055938	Q9Y2L6	FRM4B_HUMAN	Homo sapiens FERM domain containing 4B (FRMD4B), mRNA.	368						cytoplasm|cytoskeleton	binding	p.P314S(1)		NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		CTGGCTGAAGGAATTTTTGCC	0.363000														15			29		0	0	0.001786	0	0
MED13	9969	broad.mit.edu	37	17	60072719	60072719	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:60072719C>T	uc002izo.3	-	9	2052	c.1975G>A	c.(1975-1977)Gtg>Atg	p.V659M		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	Homo sapiens mediator complex subunit 13 (MED13), mRNA.	659					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTACATTGCACCATTAACCTG	0.269000														28			24		0	0	0.002780	0	0
DGKK	139189	broad.mit.edu	37	X	50111971	50111971	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:50111971C>T	uc010njr.2	-	28	3807	c.3763G>A	c.(3763-3765)Gat>Aat	p.D1255N		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	Homo sapiens diacylglycerol kinase, kappa (DGKK), mRNA.	1262	Required for localization to the plasma membrane.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GTTAGAGGATCATCACCCTCT	0.398000														1			15		0	0	0.007413	0	0
GBA3	57733	broad.mit.edu	37	4	22749269	22749269	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:22749269C>T	uc003gqp.4	+	2	728	c.637C>T	c.(637-639)Cga>Tga	p.R213*	GBA3_uc010iep.3_Intron|GBA3_uc011bxo.2_Nonsense_Mutation_p.R214*	NM_020973	NP_066024	Q9H227	GBA3_HUMAN	Homo sapiens glucosidase, beta, acid 3 (cytosolic) (GBA3), transcript variant 1, mRNA.	213			R -> P (in dbSNP:rs17612341).		glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	p.R213*(2)		breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TTCCTTATTTCGAAAAAAGCA	0.473000														93			30		0	0	0.002096	0	0
CYP2C19	1557	broad.mit.edu	37	10	96454810	96454810	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:96454810G>A	uc001kjv.4	+	3	944	c.618G>A	c.(616-618)agG>agA	p.R206R	CYP2C19_uc001kjw.4_Silent_p.R206R|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_5'UTR	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	206					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	AAAACCTCAGGATTCTGAGCT	0.338000														18			17		0	0	0.006122	0	0
YME1L1	10730	broad.mit.edu	37	10	27408325	27408325	+	Silent	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:27408325A>G	uc001iti.3	-	14	1846	c.1636T>C	c.(1636-1638)Ttg>Ctg	p.L546L	YME1L1_uc001itj.3_Silent_p.L489L|YME1L1_uc010qdl.2_Silent_p.L456L	NM_139312	NP_647473	Q96TA2	YMEL1_HUMAN	Homo sapiens YME1-like 1 (S. cerevisiae) (YME1L1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	546					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						AGATTCTCCAACTCTGCTCCG	0.393000														24			22		0	0	0.001882	0	0
ADCY8	114	broad.mit.edu	37	8	131949404	131949404	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:131949404A>T	uc003ytd.4	-	4	1652	c.1396T>A	c.(1396-1398)Tac>Aac	p.Y466N	ADCY8_uc010mds.3_Missense_Mutation_p.Y466N	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	466					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GACACGCAGTAGTAGCAGTCC	0.502000										HNSCC(32;0.087)				4			11		0	0	0.000673	0	0
DST	667	broad.mit.edu	37	6	56323978	56323978	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:56323978G>A	uc003pcy.4	-	83	15449	c.15341C>T	c.(15340-15342)tCa>tTa	p.S5114L	DST_uc003pcv.4_Missense_Mutation_p.S236L|DST_uc003pcw.4_Missense_Mutation_p.S197L|DST_uc003pcx.4_Missense_Mutation_p.S160L	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	7513					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTCAAAGTCTGATGCATCACT	0.562000														14			7		0	0	0.003080	0	0
SCN8A	6334	broad.mit.edu	37	12	52184276	52184276	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:52184276C>T	uc001ryw.3	+	24	4692	c.4514C>T	c.(4513-4515)cCc>cTc	p.P1505L	SCN8A_uc010snl.2_Missense_Mutation_p.P1464L	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA.	1505					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	AAACCTATTCCCCGCCCCTTG	0.458000														15			5		0	0	0.001168	0	0
GABRB1	2560	broad.mit.edu	37	4	47427953	47427953	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:47427953C>T	uc003gxh.3	+	8	1717	c.1343C>T	c.(1342-1344)tCc>tTc	p.S448F	GABRB1_uc011bze.2_Missense_Mutation_p.S378F	NM_000812	NP_000803	P18505	GBRB1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1), mRNA.	448					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GATGTGAATTCCATAGACAAG	0.527000														58			20		0	0	0.002780	0	0
SSH2	85464	broad.mit.edu	37	17	27958627	27958627	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:27958627G>A	uc002heo.1	-	14	3504	c.3504C>T	c.(3502-3504)ctC>ctT	p.L1168L	SSH2_uc010wbh.1_Silent_p.L1195L	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	Homo sapiens slingshot homolog 2 (Drosophila) (SSH2), mRNA.	1168					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGCCACTGGAGAGAGGGCTCT	0.512000														28			29		0	0	0.002096	0	0
CNTN5	53942	broad.mit.edu	37	11	99827575	99827575	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:99827575C>T	uc001pga.3	+	7	1215	c.711C>T	c.(709-711)tcC>tcT	p.S237S	CNTN5_uc009ywv.2_Silent_p.S237S|CNTN5_uc001pfz.3_Silent_p.S237S|CNTN5_uc021qpb.1_Silent_p.S237S|CNTN5_uc021qpc.1_Silent_p.S163S	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	237	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AGTTCCCTTCCTTTGTGGCGG	0.403000														37			32		0	0	0.007835	0	0
GPR22	2845	broad.mit.edu	37	7	107115426	107115426	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:107115426A>C	uc003vef.3	+	2	2267	c.921A>C	c.(919-921)agA>agC	p.R307S	COG5_uc003vec.2_Intron|COG5_uc003ved.2_Intron|COG5_uc003vee.2_Intron|GPR22_uc022ajv.1_Missense_Mutation_p.R307S	NM_005295	NP_005286	Q99680	GPR22_HUMAN	Homo sapiens G protein-coupled receptor 22 (GPR22), mRNA.	307						integral to plasma membrane	G-protein coupled receptor activity			large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						GACGAGAAAGACAAAAGAGAG	0.408000														8			5		0	0	0.001168	0	0
KIF14	9928	broad.mit.edu	37	1	200587238	200587238	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:200587238C>T	uc010ppk.1	-	1	1053	c.614G>A	c.(613-615)aGa>aAa	p.R205K	KIF14_uc010ppj.1_5'UTR	NM_014875	NP_055690	Q15058	KIF14_HUMAN	Homo sapiens kinesin family member 14 (KIF14), mRNA.	205	Required for PRC1-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TTCATTTGCTCTACTGGGGGC	0.393000														19			70		0	0	0.003610	0	0
CRYAB	1410	broad.mit.edu	37	11	111779560	111779560	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:111779560G>A	uc001pmf.1	-	2	481	c.456C>T	c.(454-456)gtC>gtT	p.V152V		NM_001885	NP_001876	P02511	CRYAB_HUMAN	Homo sapiens crystallin, alpha B (CRYAB), mRNA.	152					anti-apoptosis|muscle contraction|negative regulation of intracellular transport|protein folding|protein homooligomerization|response to heat	cytoplasm|nucleus	protein homodimerization activity|structural constituent of eye lens|unfolded protein binding			endometrium(1)|large_intestine(1)|lung(2)|skin(4)	8		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		CAGGGCCAGAGACCTGTTTCC	0.507000														33			36		0	0	0.005524	0	0
TLR7	51284	broad.mit.edu	37	X	12904972	12904972	+	Silent	SNP	A	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:12904972A>C	uc004cvc.3	+	2	1484	c.1345A>C	c.(1345-1347)Aga>Cga	p.R449R		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	Homo sapiens toll-like receptor 7 (TLR7), mRNA.	449					I-kappaB phosphorylation|cellular response to mechanical stimulus|defense response to virus|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|siRNA binding|single-stranded RNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	CTCAAATGCCAGAACTTCTGT	0.353000														2			39		0	0	0.007835	0	0
PDE6C	5146	broad.mit.edu	37	10	95380727	95380727	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:95380727G>A	uc001kiu.4	+	2	851	c.713G>A	c.(712-714)cGa>cAa	p.R238Q		NM_006204	NP_006195	P51160	PDE6C_HUMAN	Homo sapiens phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C), mRNA.	238					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				ATTGAATCCCGAAGAAGCCAG	0.448000														120			103		0	0	0.003610	0	0
LRRC37A3	374819	broad.mit.edu	37	17	62856232	62856232	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:62856232G>A	uc002jey.2	-	10	4648	c.4032C>T	c.(4030-4032)ttC>ttT	p.F1344F	LRRC37A3_uc010wqg.1_Silent_p.F462F|LRRC37A3_uc002jex.1_Silent_p.F321F|LRRC37A3_uc010wqf.1_Silent_p.F382F|LRRC37A3_uc010dek.1_Silent_p.F350F|DQ578599_uc021ubv.1_5'Flank	NM_199340	NP_955372	O60309	L37A3_HUMAN	Homo sapiens leucine rich repeat containing 37, member A3 (LRRC37A3), mRNA.	1344						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TCGCTGCAGAGAACGGAAGCC	0.463000														74			69		0	0	0.003610	0	0
CLIC5	53405	broad.mit.edu	37	6	45917092	45917093	+	Missense_Mutation	DNP	GC	TA	TA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:45917092_45917093GC>TA	uc003oxv.3	-	2	782_783	c.676_677GC>TA	c.(676-678)gcc>TAc	p.A226Y	CLIC5_uc003oxu.3_Missense_Mutation_p.A67Y|CLIC5_uc003oxx.3_Missense_Mutation_p.A67Y	NM_001114086	NP_001107558	Q9NZA1	CLIC5_HUMAN	Homo sapiens chloride intracellular channel 5 (CLIC5), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	226					female pregnancy	Golgi apparatus|actin cytoskeleton|cell cortex|chloride channel complex|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						CGTGCCGGGGGCTAGGTTGTGC	0.540000														38			46		0	0	0.004672	0	0
CD28	940	broad.mit.edu	37	2	204591369	204591369	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:204591369G>A	uc002vah.4	+	1	288	c.66G>A	c.(64-66)ttG>ttA	p.L22L	CD28_uc010zio.2_Silent_p.L22L|CD28_uc010ftx.3_Intron|CD28_uc002vaj.4_Non-coding_Transcript|CD28_uc002vag.1_Non-coding_Transcript	NM_006139	NP_006130	P10747	CD28_HUMAN	Homo sapiens CD28 molecule (CD28), transcript variant 1, mRNA.	22					T cell costimulation|cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|viral reproduction	cytosol|external side of plasma membrane|integral to plasma membrane	SH3/SH2 adaptor activity|coreceptor activity|protease binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						ACAAGATTTTGGTGAAGCAGT	0.393000														11			29		0	0	0.002836	0	0
STAB2	55576	broad.mit.edu	37	12	104064568	104064568	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:104064568G>A	uc001tjw.3	+	21	2540	c.2354G>A	c.(2353-2355)gGa>gAa	p.G785E		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	785					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AATAAATACGGACCTCGGTGT	0.557000														4			10		0	0	0.001368	0	0
HOMER2	9455	broad.mit.edu	37	15	83527843	83527843	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:83527843G>A	uc002bjg.3	-	4	654	c.465C>T	c.(463-465)gcC>gcT	p.A155A	HOMER2_uc002bjh.3_Silent_p.A144A	NM_199330	NP_955362	Q9NSB8	HOME2_HUMAN	Homo sapiens homer homolog 2 (Drosophila) (HOMER2), transcript variant 2, mRNA.	155					metabotropic glutamate receptor signaling pathway	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				cervix(1)|endometrium(2)|lung(6)	9						TGGCTGGACCGGCGTGAGAGG	0.493000														66			69		0	0	0.003610	0	0
TTC21A	199223	broad.mit.edu	37	3	39156156	39156156	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:39156156C>T	uc003cjc.2	+	5	816	c.639C>T	c.(637-639)ttC>ttT	p.F213F	TTC21A_uc003cja.3_Silent_p.F213F|TTC21A_uc010hho.2_Silent_p.F135F|TTC21A_uc003cjb.3_Missense_Mutation_p.P80S|TTC21A_uc011ayx.1_Silent_p.F172F|TTC21A_uc003cjd.2_Non-coding_Transcript	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	Homo sapiens tetratricopeptide repeat domain 21A (TTC21A), transcript variant 2, mRNA.	213							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CAGGGAGCTTCCTGCCAGCCC	0.542000														34			11		0	0	0.000673	0	0
BRCA1	672	broad.mit.edu	37	17	41247929	41247929	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:41247929G>A	uc002icq.3	-	8	836	c.604C>T	c.(604-606)Caa>Taa	p.Q202*	BRCA1_uc010whp.2_Nonsense_Mutation_p.Q155*|BRCA1_uc010whl.2_Nonsense_Mutation_p.Q202*|BRCA1_uc010whm.2_Intron|BRCA1_uc002icp.4_Nonsense_Mutation_p.Q131*|BRCA1_uc002icu.3_Nonsense_Mutation_p.Q202*|BRCA1_uc010cyx.3_Nonsense_Mutation_p.Q155*|BRCA1_uc002ict.3_Nonsense_Mutation_p.Q202*|BRCA1_uc010whn.2_Intron|BRCA1_uc010who.2_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Nonsense_Mutation_p.Q201*|BRCA1_uc010whr.1_Nonsense_Mutation_p.Q155*|BRCA1_uc002idd.3_Nonsense_Mutation_p.Q202*|BRCA1_uc002ide.1_Intron|BRCA1_uc010cyy.1_Nonsense_Mutation_p.Q202*|BRCA1_uc010whs.1_Nonsense_Mutation_p.Q202*|BRCA1_uc010cyz.2_Nonsense_Mutation_p.Q155*|BRCA1_uc010cza.2_Nonsense_Mutation_p.Q176*|BRCA1_uc010wht.1_Intron	NM_007294	NP_009228	P38398	BRCA1_HUMAN	Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 1, mRNA.	202					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|G2/M transition DNA damage checkpoint|androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|double-strand break repair via homologous recombination|fatty acid biosynthetic process|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|positive regulation of cell cycle arrest|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of histone acetylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein K6-linked ubiquitination|protein autoubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	RNA binding|androgen receptor binding|identical protein binding|protein binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AACAATTCTTGATCTCCCACA	0.388000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)				12			8		0	0	0.006214	0	0
MAGI2	9863	broad.mit.edu	37	7	77755155	77755155	+	Splice_Site	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:77755155C>T	uc003ugx.3	-	20	3678	c.3424_splice	c.e20-1	p.D1142_splice	MAGI2_uc003ugy.3_Splice_Site_p.D1128_splice|MAGI2_uc010ldx.1_Splice_Site_p.D735_splice	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	1142						cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				AATCAAAATCCTTTGGGGTTG	0.378000														22			13		0	0	0.001855	0	0
ITGB2	3689	broad.mit.edu	37	21	46306678	46306678	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr21:46306678C>T	uc002zgd.2	-	13	2264	c.2220G>A	c.(2218-2220)aaG>aaA	p.K740K	ITGB2_uc002zgf.3_Silent_p.K740K|ITGB2_uc011afl.1_Silent_p.K662K|ITGB2_uc010gpw.2_Silent_p.K683K|ITGB2_uc002zgg.2_Silent_p.K740K	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA.	740					apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	TGAGCTTCTCCTTCTCAAAGC	0.617000														24			11		0	0	0.000978	0	0
MYBPH	4608	broad.mit.edu	37	1	203144731	203144731	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:203144731G>A	uc001gzh.1	-	0	212	c.153C>T	c.(151-153)gcC>gcT	p.A51A		NM_004997	NP_004988	Q13203	MYBPH_HUMAN	Homo sapiens myosin binding protein H (MYBPH), mRNA.	51					cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		GGGCCTGTGGGGCAGGGGCCT	0.642000														64			123		0	0	0.003610	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18770620	18770620	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:18770620G>A	uc003zne.4	+	16	2390	c.2238G>A	c.(2236-2238)ggG>ggA	p.G746G		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	746						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CGTGTGGCGGGGGTGTTCAGA	0.483000														3			11		0	0	0.001855	0	0
ZNF132	7691	broad.mit.edu	37	19	58945976	58945976	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:58945976G>A	uc002qst.4	-	2	1236	c.835C>T	c.(835-837)Ctt>Ttt	p.L279F		NM_003433	NP_003424	P52740	ZN132_HUMAN	Homo sapiens zinc finger protein 132 (ZNF132), mRNA.	279						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		TTATTACCAAGGATTGATTTC	0.443000														25			37		0	0	0.005524	0	0
OTUD4	54726	broad.mit.edu	37	4	146071734	146071734	+	Nonsense_Mutation	SNP	G	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:146071734G>C	uc003ika.4	-	12	1133	c.995C>G	c.(994-996)tCa>tGa	p.S332*		NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	Homo sapiens OTU domain containing 4 (OTUD4), transcript variant 3, mRNA.	396							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CTGTGACCCTGAAGAATGACT	0.443000														65			12		0	0	0.001855	0	0
CT47B1	643311	broad.mit.edu	37	X	120008779	120008779	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:120008779G>A	uc011muc.2	-	0	1001	c.746C>T	c.(745-747)cCg>cTg	p.P249L		NM_001145718	NP_001139190	P0C2W7	CT47B_HUMAN	Homo sapiens cancer/testis antigen family 47, member B1 (CT47B1), mRNA.	249										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						CTCTGAGGTCGGTTCCTCTGC	0.692000														1			64		0	0	0.003610	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2808603	2808603	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:2808603G>A	uc010ckd.3	+	2	196	c.106G>A	c.(106-108)Gat>Aat	p.D36N	RAP1GAP2_uc010cke.3_Missense_Mutation_p.D36N	NM_015085	NP_055900	Q684P5	RPGP2_HUMAN	Homo sapiens RAP1 GTPase activating protein 2 (RAP1GAP2), transcript variant 1, mRNA.	36					regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						CAACAGCTCGGATGCGACCCT	0.617000														9			21		0	0	0.005443	0	0
POLD1	5424	broad.mit.edu	37	19	50902210	50902210	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:50902210C>T	uc010eny.3	+	0	103	c.102C>T	c.(100-102)ttC>ttT	p.F34F	POLD1_uc002psb.4_Silent_p.F34F|POLD1_uc002psc.4_Silent_p.F34F|POLD1_uc010enx.3_Non-coding_Transcript	NM_002691	NP_002682	P28340	DPOD1_HUMAN	Homo sapiens polymerase (DNA directed), delta 1, catalytic subunit 125kDa (POLD1), mRNA.	34					DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|DNA binding|DNA-directed DNA polymerase activity|chromatin binding|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		CATCCCAATTCGAGGAGGACC	0.667000								DNA polymerases (catalytic subunits)						7			6		0	0	0.003080	0	0
MED1	5469	broad.mit.edu	37	17	37576034	37576034	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:37576034G>A	uc002hrv.4	-	13	1445	c.1233C>T	c.(1231-1233)atC>atT	p.I411I	MED1_uc010wee.2_Silent_p.I239I|MED1_uc002hru.2_Silent_p.I411I	NM_004774	NP_004765	Q15648	MED1_HUMAN	Homo sapiens mediator complex subunit 1 (MED1), mRNA.	411	Interaction with ESR1.|Interaction with THRA.|Interaction with the Mediator complex and THRA.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		CTTGGTGTCTGATCAGATTTA	0.458000										HNSCC(31;0.082)				81			64		0	0	0.003610	0	0
BC043400	0	broad.mit.edu	37	8	22865629	22865629	+	Splice_Site	SNP	G	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:22865629G>T	uc003xcr.3	-	2		c.209_splice	c.e2-1		RHOBTB2_uc003xcp.2_Intron|RHOBTB2_uc011kzp.1_Intron|RHOBTB2_uc003xcq.2_Intron					Homo sapiens, clone IMAGE:6016214, mRNA.																		CGGGAGGTAAGGCTGAGGACA	0.562000														4			8		7.48243e-07	1.03427e-06	0.006214	1	0
GSG2	83903	broad.mit.edu	37	17	3627554	3627554	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:3627554C>T	uc002fwp.3	+	0	358	c.325C>T	c.(325-327)Cta>Tta	p.L109L	ITGAE_uc002fwo.4_Intron|ITGAE_uc002fwn.4_5'Flank	NM_031965	NP_114171	Q8TF76	HASP_HUMAN	Homo sapiens germ cell associated 2 (haspin) (GSG2), mRNA.	109					cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity										TCGCCCAAGCCTAACCGTGAC	0.736000														3			4		0	0	0.000602	0	0
PPHLN1	51535	broad.mit.edu	37	12	42836513	42836513	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:42836513C>T	uc001rng.1	+	10	1200	c.1095C>T	c.(1093-1095)ccC>ccT	p.P365P	PPHLN1_uc010skr.1_Silent_p.P310P|PPHLN1_uc010sks.1_Silent_p.P291P|PPHLN1_uc010skt.1_Silent_p.P245P|PPHLN1_uc001rni.1_Silent_p.P310P|PPHLN1_uc001rnh.1_Non-coding_Transcript|PPHLN1_uc010sku.1_Intron	NM_016488	NP_057572	Q8NEY8	PPHLN_HUMAN	Homo sapiens periphilin 1 (PPHLN1), transcript variant 1, mRNA.	365					keratinization	cytoplasm|nucleus				breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		acggaacccccgaaaacgaag	0.542000														64			30		0	0	0.001512	0	0
LOC100233156	100233156	broad.mit.edu	37	GL000218.1	39014	39014	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrGL000218.1:39014A>G	uc011mfn.2	-	4	538	c.449T>C	c.(448-450)gTg>gCg	p.V150A	LOC100233156_uc003jah.2_3'UTR					Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA.																		AGCTTCTCCCACAGCGCTGTG	0.562000														1			4		0	0	0.000248	0	0
EHD2	30846	broad.mit.edu	37	19	48229070	48229070	+	Splice_Site	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:48229070C>T	uc002phj.4	+	4	753	c.503_splice	c.e4-1	p.G168_splice	EHD2_uc010xyu.2_Splice_Site_p.G32_splice	NM_014601	NP_055416	Q9NZN4	EHD2_HUMAN	Homo sapiens EH-domain containing 2 (EHD2), mRNA.	168					blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|nucleic acid binding			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		CCACTCCAGGCTACGACTTCC	0.587000														14			13		0	0	0.003163	0	0
TLR8	51311	broad.mit.edu	37	X	12939771	12939771	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:12939771G>A	uc004cvd.3	+	2	2836	c.2666G>A	c.(2665-2667)aGg>aAg	p.R889K	TLR8-AS1_uc022btb.1_Intron|TLR8_uc004cve.3_Missense_Mutation_p.R871K	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	Homo sapiens toll-like receptor 8 (TLR8), mRNA.	871	TIR.				I-kappaB kinase/NF-kappaB cascade|cellular response to mechanical stimulus|defense response to virus|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AAAGGCTACAGGTCTCTTTCC	0.418000														0			41		0	0	0.001951	0	0
CNTN5	53942	broad.mit.edu	37	11	100141826	100141826	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:100141826C>T	uc001pga.3	+	17	2671	c.2167C>T	c.(2167-2169)Cca>Tca	p.P723S	CNTN5_uc001pfz.3_Missense_Mutation_p.P723S|CNTN5_uc021qpb.1_Missense_Mutation_p.P723S|CNTN5_uc021qpc.1_Missense_Mutation_p.P649S|CNTN5_uc010ruk.2_5'UTR	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	723	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TTCTATAGTCCCAGAAATCAT	0.423000														24			20		0	0	0.005443	0	0
ACSM2B	348158	broad.mit.edu	37	16	20548635	20548635	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:20548635C>T	uc002dhj.4	-	14	1889	c.1679G>A	c.(1678-1680)cGa>cAa	p.R560Q	ACSM2B_uc002dhk.4_Missense_Mutation_p.R560Q	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.	560					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						AAGTTTGGTTCGTTGAATTTT	0.473000														114			88		0	0	0.003610	0	0
MADD	8567	broad.mit.edu	37	11	47308070	47308070	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:47308070T>A	uc001ner.1	+	14	2829	c.2638T>A	c.(2638-2640)Ttc>Atc	p.F880I	MADD_uc001neq.2_Missense_Mutation_p.F880I|MADD_uc001nev.1_Missense_Mutation_p.F837I|MADD_uc001nes.1_Missense_Mutation_p.F837I|MADD_uc001net.1_Missense_Mutation_p.F880I|MADD_uc009yln.1_Missense_Mutation_p.F837I|MADD_uc001neu.1_Missense_Mutation_p.F837I|MADD_uc001nez.2_Missense_Mutation_p.F837I|MADD_uc001new.2_Missense_Mutation_p.F880I|MADD_uc001nex.2_Missense_Mutation_p.F880I	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	Homo sapiens MAP-kinase activating death domain (MADD), transcript variant 4, mRNA.	880					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	Rab guanyl-nucleotide exchange factor activity|death receptor binding|protein kinase activator activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		GGCCACGCCCTTCCCCAGTCT	0.562000														23			47		0	0	0.003610	0	0
ZCWPW1	55063	broad.mit.edu	37	7	99998825	99998825	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:99998825C>T	uc003uut.3	-	17	2007	c.1759G>A	c.(1759-1761)Gaa>Aaa	p.E587K	ZCWPW1_uc011kjq.2_Missense_Mutation_p.E467K|ZCWPW1_uc003uur.3_Silent_p.K395K|ZCWPW1_uc003uus.3_Missense_Mutation_p.E416K|ZCWPW1_uc011kjr.2_Silent_p.K515K|ZCWPW1_uc011kjp.2_Non-coding_Transcript	NM_017984	NP_060454	Q9H0M4	ZCPW1_HUMAN	Homo sapiens zinc finger, CW type with PWWP domain 1 (ZCWPW1), mRNA.	587							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTGGGCTCTTCTTTCGCAGAT	0.582000														19			17		0	0	0.004007	0	0
SF3B2	10992	broad.mit.edu	37	11	65827417	65827417	+	Silent	SNP	C	T	T	rs141730568	byFrequency	TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:65827417C>T	uc001ogy.1	+	12	1606	c.1566C>T	c.(1564-1566)ttC>ttT	p.F522F		NM_006842	NP_006833	Q13435	SF3B2_HUMAN	Homo sapiens splicing factor 3b, subunit 2, 145kDa (SF3B2), mRNA.	522					interspecies interaction between organisms	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						AGCCCCCCTTCGAGCTGCCAG	0.612000														21			23		0	0	0.001786	0	0
BAI3	577	broad.mit.edu	37	6	69348921	69348921	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:69348921C>T	uc010kak.3	+	1	630	c.354C>T	c.(352-354)ttC>ttT	p.F118F	BAI3_uc003pev.4_Silent_p.F118F	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	118	CUB.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AGAATGCTTTCGTTTTTCTAC	0.308000														17			20		0	0	0.007413	0	0
C10orf2	56652	broad.mit.edu	37	10	102748846	102748846	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:102748846C>T	uc001ksf.2	+	0	1554	c.879C>T	c.(877-879)gcC>gcT	p.A293A	MRPL43_uc001kry.1_5'Flank|MRPL43_uc010qpu.1_5'Flank|MRPL43_uc001krz.1_5'Flank|MRPL43_uc001ksa.1_5'Flank|MRPL43_uc001ksb.1_5'Flank|MRPL43_uc001ksc.3_5'Flank|MRPL43_uc001ksd.1_5'Flank|C10orf2_uc010qpv.1_Intron|C10orf2_uc001ksg.2_Silent_p.A293A|C10orf2_uc001ksi.2_Intron|C10orf2_uc021pxb.1_Non-coding_Transcript	NM_021830	NP_068602	Q96RR1	PEO1_HUMAN	Homo sapiens chromosome 10 open reading frame 2 (C10orf2), transcript variant 1, mRNA.	293					cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TACCCCCTGCCTTACTCCCTT	0.572000														115			87		0	0	0.003610	0	0
FAM193B	54540	broad.mit.edu	37	5	176951758	176951758	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:176951758G>A	uc003mhu.3	-	5	1813	c.1724C>T	c.(1723-1725)cCc>cTc	p.P575L	FAM193B_uc003mhr.3_Missense_Mutation_p.P79L|FAM193B_uc021yiw.1_Missense_Mutation_p.P201L|FAM193B_uc003mht.3_Missense_Mutation_p.P201L|FAM193B_uc003mhv.3_Missense_Mutation_p.P201L|FAM193B_uc003mhw.3_Non-coding_Transcript	NM_001190946	NP_001177875	Q6IPW0	Q6IPW0_HUMAN	Homo sapiens family with sequence similarity 193, member B (FAM193B), transcript variant 3, mRNA.	251										kidney(1)|large_intestine(3)	4						GACGATACCGGGAGGGGGCCC	0.647000														5			9		0	0	0.004482	0	0
KCNK9	51305	broad.mit.edu	37	8	140631244	140631244	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:140631244G>A	uc003yvf.1	-	1	446	c.382C>T	c.(382-384)Ctg>Ttg	p.L128L	KCNK9_uc003yvg.1_Silent_p.L128L|KCNK9_uc003yve.1_Non-coding_Transcript	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	Homo sapiens potassium channel, subfamily K, member 9 (KCNK9), mRNA.	128						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			CGCTCGCCCAGGCTCTGGAAC	0.587000														5			14		0	0	0.001855	0	0
TBCD	6904	broad.mit.edu	37	17	80763833	80763833	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:80763833A>C	uc002kfy.1	+	9	1163	c.1033A>C	c.(1033-1035)Acc>Ccc	p.T345P	TBCD_uc002kfx.1_Missense_Mutation_p.T328P|TBCD_uc002kfz.3_Missense_Mutation_p.T345P	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	Homo sapiens tubulin folding cofactor D (TBCD), mRNA.	345					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	GTPase activator activity|beta-tubulin binding|chaperone binding					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			ACTCATCCTGACcgaagatga	0.597000														1			16		0	0	0.001216	0	0
COL4A3	1285	broad.mit.edu	37	2	228141171	228141171	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:228141171T>A	uc002vom.2	+	26	2160	c.1998T>A	c.(1996-1998)caT>caA	p.H666Q	BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.	666	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CCCCTGGCCATCCTGGCCCCC	0.542000														19			25		0	0	0.007291	0	0
PPIH	10465	broad.mit.edu	37	1	43130569	43130569	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:43130569G>A	uc001chq.3	+	5	349	c.279G>A	c.(277-279)ggG>ggA	p.G93G	PPIH_uc009vwl.2_Silent_p.G50G|PPIH_uc021omf.1_Silent_p.G50G	NM_006347	NP_006338	O43447	PPIH_HUMAN	Homo sapiens peptidylprolyl isomerase H (cyclophilin H) (PPIH), mRNA.	93	PPIase cyclophilin-type.				protein complex assembly|protein folding	U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|cytoplasm|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|protein binding|ribonucleoprotein binding			endometrium(1)|large_intestine(1)|lung(2)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)			L-Proline(DB00172)	TTTACCGGGGGCCATTTGCAG	0.488000														41			10		0	0	0.001368	0	0
SORCS3	22986	broad.mit.edu	37	10	106916912	106916913	+	Missense_Mutation	DNP	GG	AA	AA	rs113870624		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:106916912_106916913GG>AA	uc001kyi.1	+	9	1726_1727	c.1499_1500GG>AA	c.(1498-1500)ggg>gAA	p.G500E		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	500						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GGTATCAAAGGGATATTTCTGG	0.505000														36			19		0	0	0.004672	0	0
GALNT8	26290	broad.mit.edu	37	12	4853789	4853789	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:4853789C>T	uc001qne.1	+	3	875	c.783C>T	c.(781-783)gcC>gcT	p.A261A		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) (GALNT8), mRNA.	261	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						TTGCTCAAGCCCGCAACACTG	0.473000														10			9		0	0	0.006214	0	0
MYO3A	53904	broad.mit.edu	37	10	26462877	26462877	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:26462877G>A	uc001isn.2	+	29	4044	c.3684G>A	c.(3682-3684)agG>agA	p.R1228R	MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	1228					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GCAATCTAAGGAAAGTGGAGA	0.433000														23			35		0	0	0.003755	0	0
IGFN1	91156	broad.mit.edu	37	1	201190836	201190837	+	Missense_Mutation	DNP	GT	AC	AC	rs140314343		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:201190836_201190837GT>AC	uc001gwc.3	+	18	10293_10294	c.10163_10164GT>AC	c.(10162-10164)agt>aAC	p.S3388N	IGFN1_uc001gwb.3_Non-coding_Transcript	NM_001164586	NP_001158058			Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA.											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AGCCAGCCCAGTGCCCTGGACA	0.634000														12			26		0	0	0.004672	0	0
LAMC2	3918	broad.mit.edu	37	1	183187526	183187526	+	Splice_Site	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:183187526G>A	uc001gqa.2	+	4	719	c.405_splice	c.e4-1	p.L135_splice	LAMC2_uc001gpz.4_Splice_Site_p.L135_splice|LAMC2_uc010poa.2_Splice_Site	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	Homo sapiens laminin, gamma 2 (LAMC2), transcript variant 1, mRNA.	135					cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						CTTCCCCAGAGACTCCAAGTG	0.512000														38			12		0	0	0.001855	0	0
NPY1R	4886	broad.mit.edu	37	4	164246485	164246485	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:164246485G>A	uc003iqm.2	-	2	1590	c.1125C>T	c.(1123-1125)atC>atT	p.I375I	NPY1R_uc021xtv.1_3'UTR|NPY1R_uc011cjj.2_Silent_p.I132I	NM_000909	NP_000900	P25929	NPY1R_HUMAN	Homo sapiens neuropeptide Y receptor Y1 (NPY1R), mRNA.	375					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CATTGTTGTTGATTTTTTTAA	0.373000														58			48		0	0	0.003610	0	0
DLGAP1	9229	broad.mit.edu	37	18	3880020	3880020	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:3880020C>T	uc002kmf.3	-	3	576	c.49G>A	c.(49-51)Gac>Aac	p.D17N	DLGAP1_uc010wyz.2_Missense_Mutation_p.D17N|DLGAP1_uc002kmk.2_Missense_Mutation_p.D17N|LOC201477_uc002kml.1_Intron	NM_004746	NP_004737	O14490	DLGP1_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 1 (DLGAP1), transcript variant 1, mRNA.	17					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CAGGCCGAGTCGCAGGTGACC	0.662000														17			7		0	0	0.001984	0	0
KBTBD12	166348	broad.mit.edu	37	3	127682111	127682111	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:127682111G>A	uc010hsr.3	+	3	1575	c.1572G>A	c.(1570-1572)ggG>ggA	p.G524G	KBTBD12_uc003ejy.4_Silent_p.G131G|KBTBD12_uc010hsq.3_Non-coding_Transcript|KBTBD12_uc003eka.4_Silent_p.G99G|5S_rRNA_uc021xdi.1_5'Flank	NM_207335	NP_997218	Q3ZCT8	KBTBC_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 12 (KBTBD12), mRNA.	524										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						ACCCAGATGGGGACTTTTGGC	0.552000														7			9		0	0	0.000673	0	0
SYNE1	23345	broad.mit.edu	37	6	152841606	152841606	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:152841606G>A	uc021zhb.1	-	3	520	c.297C>T	c.(295-297)ctC>ctT	p.L99L	SYNE1_uc003qot.4_Silent_p.L99L|SYNE1_uc003qou.4_Silent_p.L99L|SYNE1_uc010kjb.1_Silent_p.L99L|SYNE1_uc003qpa.1_Silent_p.L99L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	99	Actin-binding.|CH 1.				Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding	p.L99L(3)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCTTCCTTCGAGGAACTTGA	0.443000										HNSCC(10;0.0054)				45			28		0	0	0.003271	0	0
LOXL3	84695	broad.mit.edu	37	2	74763571	74763572	+	Missense_Mutation	DNP	GG	CA	CA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:74763571_74763572GG>CA	uc002smp.1	-	5	1011_1012	c.939_940CC>TG	c.(937-942)gcccac>gcTGac	p.H314D	LOXL3_uc002smo.1_5'UTR|LOXL3_uc010ffm.1_Missense_Mutation_p.H314D|LOXL3_uc002smq.1_Missense_Mutation_p.H169D|LOXL3_uc010ffn.1_Missense_Mutation_p.H169D	NM_032603	NP_115992	P58215	LOXL3_HUMAN	Homo sapiens lysyl oxidase-like 3 (LOXL3), mRNA.	314	SRCR 3.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity	p.A313T(1)		endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						TCTCCAGGGTGGGCGCCGCCCT	0.614000														9			8		0	0	0.004672	0	0
abParts	0	broad.mit.edu	37	15	22473054	22473054	+	RNA	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:22473054G>A	uc001yuj.2	-	6		c.274C>T								Parts of antibodies, mostly variable regions.																		CTCCCACTATGATAGATTTCC	0.562000														109			23		0	0	0.002299	0	0
ZNF789	285989	broad.mit.edu	37	7	99084288	99084289	+	Missense_Mutation	DNP	GG	AA	AA	rs139820028		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:99084288_99084289GG>AA	uc003uqq.1	+	4	674_675	c.455_456GG>AA	c.(454-456)agg>aAA	p.R152K	ZNF789_uc010lfw.1_Missense_Mutation_p.R57K|ZNF789_uc003uqr.1_Missense_Mutation_p.R94K	NM_213603	NP_998768	Q5FWF6	ZN789_HUMAN	Homo sapiens zinc finger protein 789 (ZNF789), transcript variant 1, mRNA.	152					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	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)					GAATACAGCAGGGGCTTCCTTC	0.416000														46			22		0	0	0.004672	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33588706	33588706	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:33588706C>T	uc003jia.1	-	17	3026	c.2863G>A	c.(2863-2865)Gag>Aag	p.E955K	ADAMTS12_uc010iuq.1_Missense_Mutation_p.E870K	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	955	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GAGCTCACCTCACTCCAGTTG	0.562000										HNSCC(64;0.19)				50			59		0	0	0.003610	0	0
KSR2	283455	broad.mit.edu	37	12	118199079	118199079	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:118199079C>T	uc001two.2	-	3	691	c.636G>A	c.(634-636)ctG>ctA	p.L212L		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	241	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCCCGACTCCAGTGGCGGGG	0.731000														23			8		0	0	0.004482	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15890744	15890744	+	RNA	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:15890744G>A	uc002nbo.3	-	0		c.55C>T								Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 24, pseudogene (CYP4F24P), non-coding RNA.																		ACAGGATGGAGGGTGAGATCC	0.667000														6			5		0	0	0.001168	0	0
MARK1	4139	broad.mit.edu	37	1	220826508	220826508	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:220826508G>A	uc009xdw.3	+	15	2402	c.1805G>A	c.(1804-1806)cGg>cAg	p.R602Q	MARK1_uc001hmn.4_Missense_Mutation_p.R601Q|MARK1_uc010pun.2_Missense_Mutation_p.R601Q|MARK1_uc001hmm.4_Missense_Mutation_p.R579Q	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 1 (MARK1), mRNA.	601					intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.R601Q(2)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		ACTCCAGACCGGACCCGTTTT	0.527000														41			17		0	0	0.006122	0	0
UNC5C	8633	broad.mit.edu	37	4	96104135	96104135	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:96104135C>T	uc003hto.3	-	13	2717	c.2364G>A	c.(2362-2364)ctG>ctA	p.L788L		NM_003728	NP_003719	O95185	UNC5C_HUMAN	Homo sapiens unc-5 homolog C (C. elegans) (UNC5C), mRNA.	788					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		CCACTGTGTTCAGGCTAAATC	0.473000														44			47		0	0	0.003610	0	0
CACNA1E	777	broad.mit.edu	37	1	181726184	181726184	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:181726184C>T	uc009wxt.3	+	29	4446	c.4251C>T	c.(4249-4251)atC>atT	p.I1417I	CACNA1E_uc001gow.3_Silent_p.I1417I|CACNA1E_uc009wxs.3_Silent_p.I1398I|CACNA1E_uc001gox.1_Silent_p.I643I	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1417					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.N1416D(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TTGTCAATATCTTTGTGGCTC	0.468000														18			24		0	0	0.003330	0	0
RP1	6101	broad.mit.edu	37	8	55542494	55542494	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:55542494G>T	uc003xsd.1	+	3	6200	c.6052G>T	c.(6052-6054)Gaa>Taa	p.E2018*	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	2018					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GTTAGAGGAAGAAGGTAATTT	0.308000														15			27		9.80776e-20	1.37323e-19	0.006320	1	0
MYH1	4619	broad.mit.edu	37	17	10400685	10400685	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:10400685C>T	uc002gmo.3	-	31	4544	c.4450G>A	c.(4450-4452)Gaa>Aaa	p.E1484K	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1484						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.E1484*(2)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TTAAATAGTTCTGTGCTGAGT	0.383000														6			29		0	0	0.001786	0	0
ACE	1636	broad.mit.edu	37	17	61562671	61562671	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:61562671G>A	uc002jau.2	+	12	2030	c.1996G>A	c.(1996-1998)Gag>Aag	p.E666K	ACE_uc010ddu.2_Missense_Mutation_p.E483K|ACE_uc010wpj.2_Missense_Mutation_p.E92K|ACE_uc010ddv.2_5'UTR|ACE_uc002jav.2_Missense_Mutation_p.E92K|ACE_uc002jaw.2_Non-coding_Transcript|ACE_uc010wpk.2_5'UTR	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	666	Peptidase M2 2.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GGTGTGGAACGAGTATGCCGA	0.562000														16			14		0	0	0.003163	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128958033	128958033	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:128958033G>A	uc003kvb.1	+	9	1744	c.1744G>A	c.(1744-1746)Gag>Aag	p.E582K	ADAMTS19_uc010jdh.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	582	Disintegrin.		E -> G (in dbSNP:rs10062501).		proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TTTTTGTCAGGAGATGCAGGT	0.428000														19			12		0	0	0.001368	0	0
HS1BP3	64342	broad.mit.edu	37	2	20824492	20824493	+	Splice_Site	DNP	GG	AA	AA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:20824492_20824493GG>AA	uc002rdw.1	-	5	825	c.784_splice	c.e5+1	p.P262_splice		NM_022460	NP_071905	Q53T59	H1BP3_HUMAN	Homo sapiens HCLS1 binding protein 3 (HS1BP3), mRNA.	262					cell communication		phosphatidylinositol binding			endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCTACTTACGGTCCACGGATG	0.614000														19			17		0	0	0.004672	0	0
C17orf90	339229	broad.mit.edu	37	17	79633587	79633587	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:79633587G>A	uc002kba.3	-	0	32	c.21C>T	c.(19-21)gtC>gtT	p.V7V	C17orf90_uc002kbb.3_Silent_p.V7V|CCDC137_uc002kbc.4_5'Flank	NM_001039842	NP_001034931	Q5BKU9	CQ090_HUMAN	Homo sapiens chromosome 17 open reading frame 90 (C17orf90), mRNA.	7										lung(2)|prostate(1)	3	all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GGCCTCCCTCGACCACCCTCC	0.741000														0			8		0	0	0.006214	0	0
LILRB4	11006	broad.mit.edu	37	19	55179167	55179167	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:55179167C>T	uc002qgp.3	+	10	1485	c.1123C>T	c.(1123-1125)Cct>Tct	p.P375S	LILRB4_uc002qgq.3_Missense_Mutation_p.P374S|LILRB4_uc010ert.3_Missense_Mutation_p.P416S|LILRB4_uc010eru.3_Missense_Mutation_p.P405S	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA.	375						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		AATGGCCTCTCCTCCCTCCCC	0.567000														18			16		0	0	0.004990	0	0
DVL3	1857	broad.mit.edu	37	3	183888309	183888309	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:183888309C>T	uc003fms.3	+	14	2057	c.1917C>T	c.(1915-1917)tcC>tcT	p.S639S	DVL3_uc011bqw.2_Silent_p.S622S|DVL3_uc003fmt.3_Silent_p.S310S|DVL3_uc003fmu.3_Silent_p.S471S	NM_004423	NP_004414	Q92997	DVL3_HUMAN	Homo sapiens dishevelled, dsh homolog 3 (Drosophila) (DVL3), mRNA.	639					canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			GCCACCATTCCCTGGCCAGCA	0.741000														1			7		0	0	0.003080	0	0
MECOM	2122	broad.mit.edu	37	3	168838947	168838947	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:168838947G>A	uc011bpj.1	-	6	1432	c.1029C>T	c.(1027-1029)gtC>gtT	p.V343V	MECOM_uc010hwk.1_Silent_p.V178V|MECOM_uc003ffj.3_Silent_p.V220V|MECOM_uc003ffi.3_Silent_p.V155V|MECOM_uc011bpi.1_Silent_p.V156V|MECOM_uc003ffn.3_Silent_p.V155V|MECOM_uc003ffk.2_Silent_p.V155V|MECOM_uc003ffl.2_Silent_p.V315V|MECOM_uc011bpk.1_Silent_p.V155V|MECOM_uc010hwn.2_Silent_p.V343V	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CCCGGGCACCGACATGCTGAG	0.522000														8			13		0	0	0.002450	0	0
SLC2A7	155184	broad.mit.edu	37	1	9086357	9086357	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:9086357C>T	uc009vmo.1	-	0	48	c.48G>A	c.(46-48)gaG>gaA	p.E16E		NM_207420	NP_997303	Q6PXP3	GTR7_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 7 (SLC2A7), mRNA.	16						integral to membrane|plasma membrane	sugar transmembrane transporter activity			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		CACTTACCCCCTCCCTGGATG	0.572000														3			13		0	0	0.006122	0	0
STRAP	11171	broad.mit.edu	37	12	16052848	16052848	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:16052848G>A	uc010shw.2	+	8	1179	c.825G>A	c.(823-825)aaG>aaA	p.K275K	STRAP_uc001rdc.4_Silent_p.K262K|STRAP_uc001rdd.4_Silent_p.K168K	NM_007178	NP_009109	Q9Y3F4	STRAP_HUMAN	Homo sapiens serine/threonine kinase receptor associated protein (STRAP), mRNA.	262					RNA splicing|mRNA processing	cell junction|mitochondrion|spliceosomal complex	identical protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15		Hepatocellular(102;0.121)				AATCCTACAAGGGACACTTTG	0.368000														20			34		0	0	0.006230	0	0
ITGB6	3694	broad.mit.edu	37	2	161025819	161025819	+	Splice_Site	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:161025819C>T	uc002ubh.2	-	7	937	c.922_splice	c.e7-1	p.E308_splice	ITGB6_uc010fow.1_Splice_Site|ITGB6_uc010fou.2_Splice_Site_p.E308_splice|ITGB6_uc010zcq.1_Splice_Site_p.E266_splice|ITGB6_uc010fov.1_Splice_Site_p.E308_splice	NM_000888	NP_000879	P18564	ITB6_HUMAN	Homo sapiens integrin, beta 6 (ITGB6), mRNA.	308	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TTGGATATTCCTAAAATTAAC	0.274000														38			20		0	0	0.001216	0	0
CASR	846	broad.mit.edu	37	3	121980728	121980728	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:121980728G>A	uc003eew.4	+	3	1284	c.846G>A	c.(844-846)gaG>gaA	p.E282E	CASR_uc003eev.4_Silent_p.E282E	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	282					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TCATCAAGGAGATTGTCCGGC	0.567000														42			16		0	0	0.004007	0	0
MAST4	375449	broad.mit.edu	37	5	66440620	66440620	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:66440620G>A	uc021xzk.1	+	21	3162	c.2854G>A	c.(2854-2856)Gaa>Aaa	p.E952K	MAST4_uc003jut.2_Missense_Mutation_p.E763K|MAST4_uc003juu.1_Missense_Mutation_p.E773K|MAST4_uc011cra.1_Missense_Mutation_p.E746K|MAST4_uc003juv.2_Missense_Mutation_p.E758K|MAST4_uc003juw.3_Missense_Mutation_p.E758K	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	955						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AGAATATTCTGAAATGTATGT	0.413000														10			4		0	0	0.000248	0	0
GRAP2	9402	broad.mit.edu	37	22	40351847	40351847	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:40351847T>C	uc003ayh.2	+	2	366	c.103T>C	c.(103-105)Ttt>Ctt	p.F35L	GRAP2_uc011aom.2_Intron|GRAP2_uc011aon.2_Intron|GRAP2_uc010gya.2_Missense_Mutation_p.F35L|GRAP2_uc011aoo.2_Intron|GRAP2_uc011aop.2_Missense_Mutation_p.F35L|GRAP2_uc011aoq.2_Intron|GRAP2_uc003ayj.2_Missense_Mutation_p.F35L	NM_004810	NP_004801	O75791	GRAP2_HUMAN	Homo sapiens GRB2-related adaptor protein 2 (GRAP2), mRNA.	35	SH3 1.				Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway|cell-cell signaling	cytosol	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						AGAGGAGTGGTTTAAGGCGGA	0.468000														25			14		0	0	0.002450	0	0
DCLK3	85443	broad.mit.edu	37	3	36779082	36779082	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:36779082C>T	uc003cgi.2	-	1	1560	c.1069G>A	c.(1069-1071)Gag>Aag	p.E357K		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	357	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						CGGCCAGTCTCATAATGCTTT	0.582000														14			28		0	0	0.002096	0	0
L3MBTL2	83746	broad.mit.edu	37	22	41621026	41621026	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:41621026C>T	uc003azo.3	+	10	1361	c.1307C>T	c.(1306-1308)gCc>gTc	p.A436V	L3MBTL2_uc010gyi.1_Missense_Mutation_p.A345V|L3MBTL2_uc003azn.3_Non-coding_Transcript	NM_031488	NP_113676	Q969R5	LMBL2_HUMAN	Homo sapiens l(3)mbt-like 2 (Drosophila) (L3MBTL2), mRNA.	436					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AAGCTGGAGGCCATTGACCCC	0.602000														62			43		0	0	0.003610	0	0
ITGA9	3680	broad.mit.edu	37	3	37514923	37514923	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:37514923G>A	uc003chd.3	+	2	445	c.392G>A	c.(391-393)cGa>cAa	p.R131Q	ITGA9_uc003chc.3_Missense_Mutation_p.R131Q	NM_002207	NP_002198	Q13797	ITA9_HUMAN	Homo sapiens integrin, alpha 9 (ITGA9), mRNA.	131					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		AGCCTGGCCCGACAGCCCAAG	0.607000														21			7		0	0	0.001984	0	0
CNGA4	1262	broad.mit.edu	37	11	6261570	6261570	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:6261570G>A	uc001mco.3	+	3	661	c.546G>A	c.(544-546)tgG>tgA	p.W182*	CNGA4_uc010raa.2_Intron|CNGA4_uc001mcn.3_Nonsense_Mutation_p.W142*	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 4 (CNGA4), mRNA.	182					response to stimulus|sensory perception of smell		cAMP binding	p.H181N(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCATCCATTGGAACAGCTGCC	0.592000														24			35		0	0	0.002836	0	0
KIAA1549	57670	broad.mit.edu	37	7	138602660	138602660	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:138602660G>A	uc011kql.2	-	1	1761	c.1712C>T	c.(1711-1713)tCt>tTt	p.S571F	KIAA1549_uc011kqj.2_Missense_Mutation_p.S571F	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	571	Ser-rich.					integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TGCTATGACAGAGAAAGATGA	0.488000			O	BRAF	pilocytic astrocytoma									5			7		0	0	0.001984	0	0
ZNF318	24149	broad.mit.edu	37	6	43305536	43305536	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:43305536G>A	uc003oux.3	-	9	6278	c.6200C>T	c.(6199-6201)tCt>tTt	p.S2067F	ZNF318_uc003ouw.3_Intron	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Homo sapiens zinc finger protein 318 (ZNF318), mRNA.	2067					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CCCAGAAAAAGATGGGATTGG	0.458000														22			19		0	0	0.001523	0	0
RYR3	6263	broad.mit.edu	37	15	34015006	34015006	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:34015006G>A	uc001zhi.3	+	43	6780	c.6710G>A	c.(6709-6711)gGa>gAa	p.G2237E	RYR3_uc010bar.3_Missense_Mutation_p.G2237E	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	2237	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.G2237E(2)		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)		GGTGAGGGGGGAAACGGGCTC	0.572000														56			55		0	0	0.003610	0	0
MTOR	2475	broad.mit.edu	37	1	11199412	11199412	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:11199412G>A	uc001asd.3	-	35	5200	c.5079C>T	c.(5077-5079)caC>caT	p.H1693H		NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	1693	FAT.				T cell costimulation|TOR signaling cascade|cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient	Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						TCACCTGAGGGTGAACTGTTG	0.478000														44			121		0	0	0.003610	0	0
ATP13A5	344905	broad.mit.edu	37	3	193039583	193039583	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:193039583G>A	uc011bsq.2	-	15	1802	c.1802C>T	c.(1801-1803)tCc>tTc	p.S601F		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	601					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CAGGCTCGAGGAAAATGGAAA	0.502000														21			12		0	0	0.002450	0	0
TUBB8	347688	broad.mit.edu	37	10	93799	93799	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:93799G>A	uc001ifi.2	-	3	533	c.533C>T	c.(532-534)aCc>aTc	p.T178I		NM_177987	NP_817124	Q3ZCM7	TBB8_HUMAN	Homo sapiens tubulin, beta 8 class VIII (TUBB8), transcript variant 1, mRNA.	178					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		CTCCACCACGGTGTCCGACAC	0.522000														55			52		0	0	0.003610	0	0
PLAU	5328	broad.mit.edu	37	10	75673108	75673108	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:75673108C>T	uc001jwa.3	+	5	575	c.429C>T	c.(427-429)gtC>gtT	p.V143V	C10orf55_uc001jvz.2_Intron|PLAU_uc010qkw.2_Silent_p.V126V|PLAU_uc010qkx.2_Silent_p.V57V|PLAU_uc001jwb.3_Non-coding_Transcript|PLAU_uc001jwc.3_Silent_p.V143V|PLAU_uc009xrq.1_Silent_p.V107V	NM_002658	NP_002649	P00749	UROK_HUMAN	Homo sapiens plasminogen activator, urokinase (PLAU), transcript variant 1, mRNA.	143	Kringle.				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	AGCTGCTTGTCCAAGAGTGCA	0.542000														28			22		0	0	0.003330	0	0
MRPS7	51081	broad.mit.edu	37	17	73259493	73259493	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:73259493G>T	uc002jnm.4	+	3	645	c.412G>T	c.(412-414)Gaa>Taa	p.E138*	GGA3_uc002jnk.2_5'Flank|GGA3_uc002jni.2_5'Flank|GGA3_uc002jnj.2_5'Flank|GGA3_uc010wry.2_5'Flank|GGA3_uc010wrw.2_5'Flank|GGA3_uc010wrx.2_5'Flank|GGA3_uc010wrz.2_5'Flank	NM_015971	NP_057055	Q9Y2R9	RT07_HUMAN	Homo sapiens mitochondrial ribosomal protein S7 (MRPS7), nuclear gene encoding mitochondrial protein, mRNA.	138					translation	cytosolic small ribosomal subunit|mitochondrion	RNA binding|protein binding|structural constituent of ribosome			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			GGCAACCATCGAACGCAACCC	0.502000														188			6		0.00198382	0.00272959	0.001984	1	0
CHKA	1119	broad.mit.edu	37	11	67832066	67832066	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:67832066G>A	uc001onj.3	-	9	1372	c.1158C>T	c.(1156-1158)ttC>ttT	p.F386F	CHKA_uc001onk.3_Silent_p.F368F	NM_001277	NP_001268	P35790	CHKA_HUMAN	Homo sapiens choline kinase alpha (CHKA), transcript variant 1, mRNA.	386					lipid transport|phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|choline kinase activity|drug binding|ethanolamine kinase activity|signal transducer activity	p.F386L(2)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13					Choline(DB00122)	AGTCATTTTGGAATGCAGGCA	0.294000														17			15		0	0	0.004990	0	0
NUCKS1	64710	broad.mit.edu	37	1	205687458	205687458	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:205687458T>A	uc001hdb.3	-	6	953	c.682A>T	c.(682-684)Aaa>Taa	p.K228*		NM_022731	NP_073568	Q9H1E3	NUCKS_HUMAN	Homo sapiens nuclear casein kinase and cyclin-dependent kinase substrate 1 (NUCKS1), mRNA.	228						nucleus				endometrium(4)|large_intestine(1)|lung(9)	14	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			TCCCCAGATTTCTCGGGTGGG	0.433000														104			35		0	0	0.003755	0	0
DNAH17	8632	broad.mit.edu	37	17	76533467	76533467	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:76533467G>A	uc010dhp.2	-	18	2898	c.2773C>T	c.(2773-2775)Ctg>Ttg	p.L925L		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ATCAGTGCCAGGAAGCCGCGA	0.597000														11			7		0	0	0.001984	0	0
MUC16	94025	broad.mit.edu	37	19	9067427	9067427	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:9067427C>T	uc002mkp.3	-	2	20223	c.20019G>A	c.(20017-20019)gaG>gaA	p.E6673E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6675	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						CAGCACTTTTCTCTGTGGATA	0.507000														38			40		0	0	0.006230	0	0
PRAMEF6	440561	broad.mit.edu	37	1	13001191	13001191	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:13001191G>A	uc001auq.2	-	2	578	c.492C>T	c.(490-492)ctC>ctT	p.L164L	PRAMEF6_uc001aur.2_Intron	NM_001010889	NP_001010889	Q5VXH4	PRAM6_HUMAN	Homo sapiens PRAME family member 6 (PRAMEF6), mRNA.	164										NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGAGGCAGGTGAGGTATTCAT	0.473000														199			13		0	0	0.001882	0	0
GMIP	51291	broad.mit.edu	37	19	19749274	19749274	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:19749274C>T	uc002nnd.3	-	7	672	c.555G>A	c.(553-555)cgG>cgA	p.R185R	GMIP_uc010xrb.2_Silent_p.R185R|GMIP_uc010xrc.2_Silent_p.R185R	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	Homo sapiens GEM interacting protein (GMIP), mRNA.	185					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity|metal ion binding|protein binding	p.K184I(1)|p.K184K(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CAATCTCAGTCCGTTTGGCGG	0.597000														12			11		0	0	0.001855	0	0
HRNR	388697	broad.mit.edu	37	1	152187509	152187509	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:152187509C>T	uc001ezt.1	-	2	6672	c.6596G>A	c.(6595-6597)gGc>gAc	p.G2199D		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	2199					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCATGTTGGCCGTGGCTGGA	0.627000														157			8		0	0	0.000673	0	0
DAB1	1600	broad.mit.edu	37	1	57536726	57536726	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:57536726C>T	uc009vzx.1	-	6	887	c.567G>A	c.(565-567)ttG>ttA	p.L189L	DAB1_uc001cyt.1_Silent_p.L189L|DAB1_uc001cyq.1_Intron|DAB1_uc001cyr.1_Intron|DAB1_uc009vzw.1_Intron|DAB1_uc001cys.1_Silent_p.L189L	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	189	PID.				cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CATCCTCTTCCAATATTGTCT	0.423000														23			42		0	0	0.003610	0	0
SHANK2	22941	broad.mit.edu	37	11	70333007	70333007	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:70333007C>T	uc001oqc.3	-	20	3305	c.3193G>A	c.(3193-3195)Gat>Aat	p.D1065N	SHANK2_uc010rqn.2_Missense_Mutation_p.D541N|SHANK2_uc001opz.3_Missense_Mutation_p.D536N|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	752					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TCAGCAAAATCCCCCTCCTCG	0.682000														25			22		0	0	0.001882	0	0
NR2F2	7026	broad.mit.edu	37	15	96880662	96880663	+	Missense_Mutation	DNP	GT	AC	AC			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:96880662_96880663GT>AC	uc010uri.2	+	2	2280_2281	c.1056_1057GT>AC	c.(1054-1059)cagtac>caACac	p.Y353H	NR2F2_uc002btp.3_Missense_Mutation_p.Y220H|NR2F2_uc010urj.2_Missense_Mutation_p.Y200H|NR2F2_uc010urk.2_Missense_Mutation_p.Y200H	NM_021005	NP_001138629	P24468	COT2_HUMAN	Homo sapiens nuclear receptor subfamily 2, group F, member 2 (NR2F2), transcript variant 1, mRNA.	353	Important for dimerization.|Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity).				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			TTAGGAGCCAGTACCCCAACCA	0.500000														55			34		0	0	0.004672	0	0
BSPRY	54836	broad.mit.edu	37	9	116131975	116131975	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:116131975C>T	uc004bhg.4	+	5	810	c.762C>T	c.(760-762)ttC>ttT	p.F254F	BSPRY_uc010muw.3_3'UTR	NM_017688	NP_060158	Q5W0U4	BSPRY_HUMAN	Homo sapiens B-box and SPRY domain containing (BSPRY), mRNA.	254	B30.2/SPRY.				calcium ion transport	cytoplasm|membrane	zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						CCCTGACCTTCAGCACCAAGA	0.562000														13			30		0	0	0.001786	0	0
SURF6	6838	broad.mit.edu	37	9	136199027	136199027	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:136199027C>T	uc004cdb.4	-	4	842	c.764G>A	c.(763-765)gGc>gAc	p.G255D		NM_006753	NP_006744	O75683	SURF6_HUMAN	Homo sapiens surfeit 6 (SURF6), mRNA.	255						granular component	DNA binding|RNA binding			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12				OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)		CTCATCCTGGCCGCGCAGCTC	0.667000														71			22		0	0	0.001512	0	0
HELT	391723	broad.mit.edu	37	4	185940983	185940983	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:185940983G>A	uc011ckq.2	+	2	470	c.470G>A	c.(469-471)cGg>cAg	p.R157Q	HELT_uc011cko.2_Missense_Mutation_p.R72Q|HELT_uc003ixa.3_Missense_Mutation_p.R72Q|HELT_uc011ckp.1_Missense_Mutation_p.R16Q	NM_001029887	NP_001025058	A6NFD8	HELT_HUMAN	Homo sapiens helt bHLH transcription factor (HELT), mRNA.	157							DNA binding	p.R157R(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	14		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		GATTTTCCCCGGGGAAGGGAA	0.622000														42			4		0	0	0.000602	0	0
LRRC48	83450	broad.mit.edu	37	17	17907698	17907698	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:17907698G>A	uc021trj.1	+	10	1400	c.1021G>A	c.(1021-1023)Gag>Aag	p.E341K	LRRC48_uc010vxe.2_Missense_Mutation_p.E341K|LRRC48_uc021tri.1_Missense_Mutation_p.E341K|LRRC48_uc021trk.1_Missense_Mutation_p.E341K	NM_001130090	NP_112584	Q9H069	LRC48_HUMAN	Homo sapiens leucine rich repeat containing 48 (LRRC48), transcript variant 1, mRNA.	341						cytoplasm				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					CATTCGAGAGGAGTTGGAACT	0.443000														5			3		0	0	0.000248	0	0
PRAMEF17	391004	broad.mit.edu	37	1	13718424	13718424	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:13718424G>C	uc009vnz.1	+	2	917	c.887G>C	c.(886-888)gGa>gCa	p.G296A		NM_001099851	NP_001093321	Q5VTA0	PRA17_HUMAN	Homo sapiens PRAME family member 17 (PRAMEF17), mRNA.	296										kidney(1)|lung(2)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;9.86e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|COAD - Colon adenocarcinoma(227;0.000502)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AACCCCTTGGGAACCTTTATA	0.483000														25			66		0	0	0.003610	0	0
NPY5R	4889	broad.mit.edu	37	4	164272759	164272759	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:164272759T>A	uc003iqn.3	+	3	1516	c.1334T>A	c.(1333-1335)aTg>aAg	p.M445K	NPY5R_uc021xtw.1_Missense_Mutation_p.M445K	NM_006174	NP_006165	Q15761	NPY5R_HUMAN	Homo sapiens neuropeptide Y receptor Y5 (NPY5R), mRNA.	445					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				TGTCTTCATATGTAATAATTC	0.289000														34			29		0	0	0.002445	0	0
EPB41	2035	broad.mit.edu	37	1	29379656	29379656	+	Silent	SNP	T	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:29379656T>C	uc001brm.2	+	11	1804	c.1677T>C	c.(1675-1677)acT>acC	p.T559T	EPB41_uc001brg.2_Silent_p.T350T|EPB41_uc001brh.2_Silent_p.T350T|EPB41_uc001brj.2_Silent_p.T350T|EPB41_uc001bri.2_Silent_p.T524T|EPB41_uc009vtk.2_Silent_p.T523T|EPB41_uc001brk.3_Silent_p.T559T|EPB41_uc001brl.2_Silent_p.T559T|EPB41_uc021okg.1_Silent_p.T559T|EPB41_uc009vtm.2_Silent_p.T192T|EPB41_uc009vtl.2_Silent_p.T350T	NM_001166005	NP_001159477	P11171	41_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) (EPB41), transcript variant 1, mRNA.	559	Hydrophilic.				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	Golgi apparatus|extrinsic to membrane|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		CTCGGCCCACTTCTGCACCTG	0.493000														38			11		0	0	0.001368	0	0
TMEM132D	121256	broad.mit.edu	37	12	129822269	129822269	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:129822269G>A	uc009zyl.1	-	3	1537	c.1209C>T	c.(1207-1209)gtC>gtT	p.V403V		NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	403						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CGGGGTACTCGACCTGCCACG	0.577000														37			70		0	0	0.003610	0	0
CD163L1	283316	broad.mit.edu	37	12	7510083	7510083	+	Splice_Site	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:7510083C>T	uc010sge.2	-	19	4336	c.4310_splice	c.e19-1	p.D1437_splice	CD163L1_uc001qsy.3_Splice_Site_p.D1427_splice	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	1427						extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GGGGTGTCATCTGAAAGAAAG	0.443000														5			12		0	0	0.001855	0	0
ARHGEF16	27237	broad.mit.edu	37	1	3391288	3391288	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:3391288C>T	uc001akg.4	+	8	1570	c.1322C>T	c.(1321-1323)aCc>aTc	p.T441I	ARHGEF16_uc001aki.3_Missense_Mutation_p.T153I|ARHGEF16_uc001akj.3_Missense_Mutation_p.T153I|ARHGEF16_uc010nzh.2_Missense_Mutation_p.T145I	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 16 (ARHGEF16), mRNA.	441	DH.|Required for RHOG activation and mediates interaction with EPHA2.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		TGCCTCAAGACCCAGGGCCAC	0.627000														35			6		0	0	0.004482	0	0
RB1CC1	9821	broad.mit.edu	37	8	53586681	53586681	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:53586681G>A	uc003xre.4	-	6	1284	c.726C>T	c.(724-726)ctC>ctT	p.L242L	RB1CC1_uc003xrf.4_Silent_p.L242L	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Homo sapiens RB1-inducible coiled-coil 1 (RB1CC1), transcript variant 1, mRNA.	242					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ULK1-ATG13-FIP200 complex|cytosol|nucleus|pre-autophagosomal structure	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TATCAGGAGAGAGCACCAGTT	0.433000														49			66		0	0	0.003610	0	0
TRBV19	28568	broad.mit.edu	37	7	142326771	142326771	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:142326771C>T	uc003vzo.2	+	1	264	c.69C>T	c.(67-69)atC>atT	p.I23I	TRBV5-1_uc011krr.1_Intron|TRBV19_uc022anp.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		ATGGTGGAATCACTCAGTCCC	0.527000														33			24		0	0	0.002780	0	0
NPC1	4864	broad.mit.edu	37	18	21124964	21124964	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:21124964G>A	uc002kum.4	-	11	2181	c.1907C>T	c.(1906-1908)tCc>tTc	p.S636F	NPC1_uc010xaz.2_Missense_Mutation_p.S369F|NPC1_uc010xba.1_Missense_Mutation_p.S481F	NM_000271	NP_000262	O15118	NPC1_HUMAN	Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA.	636	SSD.				autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CAAGGCTAGGGAAATATATAG	0.458000														11			28		0	0	0.002445	0	0
OR51I1	390063	broad.mit.edu	37	11	5462631	5462631	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:5462631C>T	uc010qze.2	-	0	153	c.114G>A	c.(112-114)atG>atA	p.M38I	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001005288	NP_001005288	Q9H343	O51I1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily I, member 1 (OR51I1), mRNA.	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAATGGAGATCATGTAGAGGA	0.522000														4			10		0	0	0.006214	0	0
FRAS1	80144	broad.mit.edu	37	4	79403689	79403689	+	Splice_Site	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:79403689G>A	uc003hlb.2	+	58	9192	c.8752_splice	c.e58+1	p.V2918_splice		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	2913	Calx-beta 4.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ATTCCAAGATGGTAAGAGATT	0.418000														22			36		0	0	0.006999	0	0
CACNA1D	776	broad.mit.edu	37	3	53845206	53845206	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:53845206G>A	uc003dgv.4	+	47	6422	c.6259G>A	c.(6259-6261)Gaa>Aaa	p.E2087K	CACNA1D_uc003dgu.4_Missense_Mutation_p.E2107K|CACNA1D_uc003dgy.4_Missense_Mutation_p.E2063K|CACNA1D_uc003dgw.4_Missense_Mutation_p.E1754K|CACNA1D_uc011bes.2_Non-coding_Transcript	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	2087					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	AACAAAACACGAAATCGCTGA	0.552000														17			33		0	0	0.003271	0	0
TLL2	7093	broad.mit.edu	37	10	98130031	98130031	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:98130031G>A	uc001kml.2	-	19	2945	c.2704C>T	c.(2704-2706)Ctc>Ttc	p.L902F		NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	Homo sapiens tolloid-like 2 (TLL2), mRNA.	902	CUB 5.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TGGGAATAGAGCTCTTTGGTC	0.612000											OREG0020396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		31			22		0	0	0.001523	0	0
CPE	1363	broad.mit.edu	37	4	166405693	166405693	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:166405693G>A	uc003irg.4	+	4	1187	c.910G>A	c.(910-912)Gat>Aat	p.D304N		NM_001873	NP_001864	P16870	CBPE_HUMAN	Homo sapiens carboxypeptidase E (CPE), mRNA.	304					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCGCAAGAATGATGATGACAG	0.517000														260			103		0	0	0.003610	0	0
PCDH18	54510	broad.mit.edu	37	4	138451832	138451832	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:138451832C>T	uc003ihe.4	-	0	1798	c.1411G>A	c.(1411-1413)Gaa>Aaa	p.E471K	PCDH18_uc003ihf.4_Missense_Mutation_p.E464K|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Missense_Mutation_p.E251K|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	471	Cadherin 5.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					ATTACAAATTCATATCGGCTT	0.423000														65			57		0	0	0.003610	0	0
abParts	0	broad.mit.edu	37	14	106691775	106691775	+	RNA	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:106691775C>T	uc021ser.1	-	1156		c.25218G>A								Parts of antibodies, mostly variable regions.																		ATCGGCCCTTCACTGAGTCTG	0.517000														81			63		0	0	0.003610	0	0
OTOP1	133060	broad.mit.edu	37	4	4214696	4214696	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:4214696G>A	uc003ghp.1	-	1	469	c.439C>T	c.(439-441)Ctg>Ttg	p.L147L		NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN	Homo sapiens otopetrin 1 (OTOP1), mRNA.	147					biomineral tissue development	extracellular space|integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AGGCATCCCAGGATGACGGTA	0.398000														14			7		0	0	0.001984	0	0
ALPK2	115701	broad.mit.edu	37	18	56205321	56205321	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:56205321C>T	uc002lhj.4	-	4	2312	c.2098G>A	c.(2098-2100)Gaa>Aaa	p.E700K	ALPK2_uc002lhk.1_Missense_Mutation_p.E31K	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	700							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GATGCATTTTCCTTGTGGACC	0.488000														15			23		0	0	0.002299	0	0
NBAS	51594	broad.mit.edu	37	2	15615878	15615878	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:15615878G>A	uc002rcc.1	-	13	1300	c.1274C>T	c.(1273-1275)tCc>tTc	p.S425F	NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	425										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CCATTCACAGGATTTTCCCAG	0.413000														21			21		0	0	0.001882	0	0
MIR205HG	642587	broad.mit.edu	37	1	209602681	209602681	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:209602681G>A	uc009xcn.3	+	1	422	c.39G>A	c.(37-39)agG>agA	p.R13R	MIR205HG_uc010psk.2_5'Flank	NM_001104548	NP_001098018			Homo sapiens MIR205 host gene (non-protein coding) (MIR205HG), mRNA.																		AACTATTCAGGACCGGCCCCC	0.507000														5			17		0	0	0.001523	0	0
OR2W1	26692	broad.mit.edu	37	6	29012427	29012427	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:29012427G>A	uc003nlw.2	-	0	526	c.526C>T	c.(526-528)Cat>Tat	p.H176Y	LOC100129636_uc021ytq.1_Intron	NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 1 (OR2W1), mRNA.	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						CACAAGAAATGATCCAGAATG	0.388000														16			22		0	0	0.001882	0	0
SLC38A4	55089	broad.mit.edu	37	12	47178369	47178369	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:47178369C>T	uc001rpi.2	-	6	848	c.449G>A	c.(448-450)gGa>gAa	p.G150E	SLC38A4_uc001rpj.2_Missense_Mutation_p.G150E|SLC38A4_uc009zkl.2_Missense_Mutation_p.G150E	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA.	150					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	p.P149P(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					TCCAATTTTTCCCGGCCATCC	0.333000														8			9		0	0	0.000673	0	0
KDM4B	23030	broad.mit.edu	37	19	5077384	5077385	+	Missense_Mutation	DNP	TC	AT	AT			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:5077384_5077385TC>AT	uc010xim.2	+	6	791_792	c.683_684TC>AT	c.(682-684)ttc>tAT	p.F228Y	KDM4B_uc010xil.1_Missense_Mutation_p.F228Y|KDM4B_uc002mbq.4_Missense_Mutation_p.F228Y|KDM4B_uc002mbr.4_5'UTR	NM_015015	NP_055830	O94953	KDM4B_HUMAN	Homo sapiens lysine (K)-specific demethylase 4B (KDM4B), mRNA.	228	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CTAGGCTTCTTCCCCGGGAGCT	0.649000														88			50		0	0	0.004672	0	0
GRIA4	2893	broad.mit.edu	37	11	105775945	105775945	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:105775945G>A	uc001pix.2	+	8	1522	c.1076G>A	c.(1075-1077)gGg>gAg	p.G359E	GRIA4_uc001piu.1_Missense_Mutation_p.G359E|GRIA4_uc001piw.2_Missense_Mutation_p.G359E|GRIA4_uc009yxk.1_Missense_Mutation_p.G359E	NM_000829	NP_000820	P48058	GRIA4_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 4 (GRIA4), transcript variant 1, mRNA.	359					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	GGGCTGACAGGGAATGTTCAG	0.408000														43			30		0	0	0.002096	0	0
ZBTB7B	51043	broad.mit.edu	37	1	154987938	154987938	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:154987938C>T	uc001fgj.4	+	4	1189	c.904C>T	c.(904-906)Cag>Tag	p.Q302*	ZBTB7B_uc009wpa.3_Nonsense_Mutation_p.Q268*|ZBTB7B_uc001fgk.4_Nonsense_Mutation_p.Q268*|ZBTB7B_uc010peq.2_Nonsense_Mutation_p.Q302*|ZBTB7B_uc001fgl.4_Nonsense_Mutation_p.Q268*	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	Homo sapiens zinc finger and BTB domain containing 7B (ZBTB7B), transcript variant 1, mRNA.	268					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGAGGGTCCCCAGAGCTACGA	0.677000														19			4		0	0	0.000248	0	0
PYGM	5837	broad.mit.edu	37	11	64525789	64525789	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:64525789G>A	uc001oax.4	-	3	1274	c.457C>T	c.(457-459)Ctg>Ttg	p.L153L	PYGM_uc001oay.4_Intron	NM_005609	NP_005600	P11217	PYGM_HUMAN	Homo sapiens phosphorylase, glycogen, muscle (PYGM), transcript variant 1, mRNA.	153					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	TAGGCGGCCAGGCCCAGTGTT	0.607000														70			52		0	0	0.003610	0	0
TMEM229B	161145	broad.mit.edu	37	14	67940268	67940268	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:67940268A>G	uc001xjk.3	-	2	783	c.373T>C	c.(373-375)Ttc>Ctc	p.F125L	TMEM229B_uc001xjj.1_Non-coding_Transcript|TMEM229B_uc021rvb.1_Missense_Mutation_p.F125L	NM_182526	NP_872332	Q8NBD8	T229B_HUMAN	Homo sapiens transmembrane protein 229B (TMEM229B), mRNA.	125						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GCCCCGCAGAACCAGGGCACG	0.647000														8			9		0	0	0.004482	0	0
ERBB2	2064	broad.mit.edu	37	17	37880219	37880219	+	Missense_Mutation	SNP	T	A	A	rs121913469		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:37880219T>A	uc002hso.3	+	18	2501	c.2263T>A	c.(2263-2265)Ttg>Atg	p.L755M	ERBB2_uc010cwa.3_Missense_Mutation_p.L740M|ERBB2_uc002hsm.3_Missense_Mutation_p.L725M|ERBB2_uc002hsp.3_Missense_Mutation_p.L558M|ERBB2_uc010cwb.3_Missense_Mutation_p.L755M|ERBB2_uc010wek.2_Missense_Mutation_p.L479M|MIR4728_uc021twt.1_5'Flank	NM_004448	NP_001005862	P04626	ERBB2_HUMAN	Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) (ERBB2), transcript variant 1, mRNA.	755	Protein kinase.		L -> P (in a lung adenocarcinoma sample; somatic mutation).		cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of MAP kinase activity|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|ErbB-3 class receptor binding|epidermal growth factor receptor activity|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.L755S(11)|p.L755P(4)|p.L755_S760>A(2)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	CATCAAAGTGTTGAGGGAAAA	0.532000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)				25			20		0	0	0.002780	0	0
TRPM2	7226	broad.mit.edu	37	21	45799070	45799070	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr21:45799070G>A	uc010gpt.1	+	7	1305	c.1205G>A	c.(1204-1206)tGg>tAg	p.W402*	TRPM2_uc002zet.1_Nonsense_Mutation_p.W402*|TRPM2_uc002zeu.1_Nonsense_Mutation_p.W402*|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Nonsense_Mutation_p.W402*|TRPM2_uc002zex.1_Nonsense_Mutation_p.W188*	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	402						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						ATTGTCGAGTGGACCAAAAAG	0.562000														33			37		0	0	0.006999	0	0
GAD2	2572	broad.mit.edu	37	10	26513567	26513567	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:26513567G>A	uc001isp.2	+	5	1214	c.711G>A	c.(709-711)ggG>ggA	p.G237G	GAD2_uc001isq.2_Silent_p.G237G	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN	Homo sapiens glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) (GAD2), transcript variant 2, mRNA.	237					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	Golgi membrane|cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	CTGGCGATGGGATATTTTCTC	0.388000														24			19		0	0	0.001216	0	0
ERC1	23085	broad.mit.edu	37	12	1553829	1553829	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:1553829C>T	uc001qjb.2	+	17	3367	c.3126C>T	c.(3124-3126)ctC>ctT	p.L1042L	ERC1_uc001qiz.2_Non-coding_Transcript|ERC1_uc001qjc.2_Silent_p.L1014L|ERC1_uc001qja.2_Non-coding_Transcript|ERC1_uc001qjd.2_Non-coding_Transcript|ERC1_uc001qjf.2_Silent_p.L1042L|ERC1_uc010sdv.1_3'UTR|ERC1_uc001qje.2_Non-coding_Transcript	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 1 (ERC1), transcript variant epsilon, mRNA.	1042					I-kappaB phosphorylation|multicellular organismal development|positive regulation of NF-kappaB transcription factor activity|positive regulation of anti-apoptosis|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			CCCTGATCCTCCGTGGACTCA	0.527000														43			16		0	0	0.001216	0	0
TP53BP1	7158	broad.mit.edu	37	15	43762101	43762101	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:43762101G>A	uc001zrs.3	-	10	1477	c.1329C>T	c.(1327-1329)ttC>ttT	p.F443F	TP53BP1_uc010udp.2_Silent_p.F443F|TP53BP1_uc001zrq.4_Silent_p.F448F|TP53BP1_uc001zrr.4_Silent_p.F448F|TP53BP1_uc010udq.1_Silent_p.F448F	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	443					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		ACCCAGGAGGGAAGACTGGTG	0.448000								Other conserved DNA damage response genes						62			43		0	0	0.003610	0	0
GABRA1	2554	broad.mit.edu	37	5	161324243	161324243	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:161324243G>A	uc010jiw.3	+	10	1654	c.1186G>A	c.(1186-1188)Gaa>Aaa	p.E396K	GABRA1_uc010jix.3_Missense_Mutation_p.E396K|GABRA1_uc010jiy.3_Missense_Mutation_p.E396K|GABRA1_uc003lyx.4_Missense_Mutation_p.E396K|GABRA1_uc010jiz.3_Missense_Mutation_p.E396K|GABRA1_uc010jja.3_Missense_Mutation_p.E396K|GABRA1_uc010jjb.3_Missense_Mutation_p.E396K	NM_000806	NP_001121120	P14867	GBRA1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA.	396					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	TGCAACCATAGAACCTAAAGA	0.478000														49			32		0	0	0.001786	0	0
GAS2L2	246176	broad.mit.edu	37	17	34072304	34072305	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:34072304_34072305CC>TT	uc002hjv.2	-	5	2239_2240	c.2211_2212GG>AA	c.(2209-2214)gaggcc>gaAAcc	p.A738T		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	738					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGTGTGGGGGCCTCCGGGCTGG	0.624000														72			40		0	0	0.004672	0	0
C15orf2	23742	broad.mit.edu	37	15	24922625	24922625	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:24922625C>T	uc001ywo.3	+	0	2085	c.1611C>T	c.(1609-1611)tcC>tcT	p.S537S		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	537					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CAGTCCCTTCCACCGGGACCT	0.532000														93			70		0	0	0.003610	0	0
GCAT	23464	broad.mit.edu	37	22	38208989	38208989	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:38208989C>T	uc003aua.2	+	2	564	c.501C>T	c.(499-501)ctC>ctT	p.L167L	GCAT_uc003atz.3_Silent_p.L141L	NM_001171690	NP_001165161	O75600	KBL_HUMAN	Homo sapiens glycine C-acetyltransferase (GCAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	141					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	ACGCCGGCCTCTTTGAGGTGT	0.572000														35			29		0	0	0.002445	0	0
TDP2	51567	broad.mit.edu	37	6	24654716	24654716	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:24654716G>A	uc003nej.3	-	4	585	c.560C>T	c.(559-561)tCa>tTa	p.S187L	TDP2_uc010jpu.1_Missense_Mutation_p.S187L	NM_016614	NP_057698	O95551	TYDP2_HUMAN	Homo sapiens tyrosyl-DNA phosphodiesterase 2 (TDP2), mRNA.	187					cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity			kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						TTTCACTCTTGATTTCTTCAA	0.308000								Direct reversal of damage						9			13		0	0	0.002450	0	0
SLC9C1	285335	broad.mit.edu	37	3	111993810	111993810	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:111993810A>T	uc003dyu.3	-	5	769	c.547T>A	c.(547-549)Tta>Ata	p.L183I	SLC9C1_uc011bhu.2_5'UTR|SLC9C1_uc010hqc.3_Missense_Mutation_p.L183I	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.	183					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										AATGTAATTAATGATATAACA	0.299000														15			4		0	0	0.000248	0	0
SAMD12	401474	broad.mit.edu	37	8	119391932	119391932	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:119391932G>A	uc003yom.2	-	3	459	c.330C>T	c.(328-330)gcC>gcT	p.A110A	SAMD12_uc010mda.1_Silent_p.A110A|SAMD12_uc010mdb.1_Non-coding_Transcript	NM_207506	NP_997389	Q8N8I0	SAM12_HUMAN	Homo sapiens sterile alpha motif domain containing 12 (SAMD12), transcript variant 2, mRNA.	110	SAM.									endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			GTCTCAGCAGGGCTCGCCCTG	0.488000														8			10		0	0	0.000673	0	0
GYS2	2998	broad.mit.edu	37	12	21716177	21716177	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:21716177C>T	uc001rfb.3	-	5	1181	c.926G>A	c.(925-927)cGa>cAa	p.R309Q		NM_021957	NP_068776	P54840	GYS2_HUMAN	Homo sapiens glycogen synthase 2 (liver) (GYS2), mRNA.	309					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GAAATGACCTCGAACAAAATC	0.323000														41			15		0	0	0.004990	0	0
DSCAML1	57453	broad.mit.edu	37	11	117392001	117392002	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:117392001_117392002CC>TT	uc001prh.1	-	5	1238_1239	c.1236_1237GG>AA	c.(1234-1239)acggag>acAAag	p.E413K	DSCAML1_uc001pri.1_Missense_Mutation_p.E217K	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	353	Ig-like C2-type 5.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AGCACCAGCTCCGTGTTGCGAT	0.624000														49			31		0	0	0.004672	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51917725	51917725	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:51917725G>A	uc002pwo.3	-	8	1882	c.1660C>T	c.(1660-1662)Ctg>Ttg	p.L554L	SIGLEC10_uc002pwp.3_Silent_p.L496L|SIGLEC10_uc021uyl.1_Silent_p.L376L|SIGLEC10_uc002pwq.3_Silent_p.L401L|SIGLEC10_uc010ycz.2_Silent_p.L411L|SIGLEC10_uc002pws.2_Silent_p.L311L|SIGLEC10_uc002pwr.3_Silent_p.L459L|SIGLEC10_uc010ycy.2_Silent_p.L369L|SIGLEC10_uc010eow.3_Silent_p.L271L|LOC100129083_uc021uym.1_5'Flank	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 1, mRNA.	554					cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		CCGATTCCCAGAAACGCTCCG	0.587000														17			14		0	0	0.001523	0	0
PTPRK	5796	broad.mit.edu	37	6	128297830	128297830	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:128297830C>T	uc003qbk.3	-	26	4305	c.3938G>A	c.(3937-3939)cGg>cAg	p.R1313Q	PTPRK_uc010kfc.3_Missense_Mutation_p.R1320Q|PTPRK_uc003qbj.3_Missense_Mutation_p.R1314Q|PTPRK_uc011ebu.2_Missense_Mutation_p.R1336Q	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	1313	Tyrosine-protein phosphatase 2.				cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CCTAAAAATCCGGTTGATCAC	0.428000														9			6		0	0	0.001984	0	0
EPS8L1	54869	broad.mit.edu	37	19	55594784	55594784	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:55594784C>T	uc002qis.4	+	12	1357	c.1253C>T	c.(1252-1254)cCc>cTc	p.P418L	EPS8L1_uc010ess.1_Missense_Mutation_p.P400L|EPS8L1_uc010est.1_Missense_Mutation_p.P418L|EPS8L1_uc010yfr.2_Missense_Mutation_p.P354L|EPS8L1_uc010esu.1_Non-coding_Transcript|EPS8L1_uc002qiu.3_Missense_Mutation_p.P291L|EPS8L1_uc002qiv.3_Missense_Mutation_p.P64L|EPS8L1_uc002qiw.3_Missense_Mutation_p.P165L	NM_133180	NP_573441	Q8TE68	ES8L1_HUMAN	Homo sapiens EPS8-like 1 (EPS8L1), transcript variant 1, mRNA.	418						cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CCATACAGACCCGAGTTCTTC	0.672000														8			11		0	0	0.000978	0	0
UGT2B28	54490	broad.mit.edu	37	4	70146238	70146238	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:70146238C>T	uc003hej.3	+	0	22	c.20C>T	c.(19-21)tCa>tTa	p.S7L	UGT2B28_uc010ihr.3_Missense_Mutation_p.S7L	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	7					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	AAGTGGACTTCAGTTCTTCTG	0.403000														9			9		0	0	0.000978	0	0
SBF1	6305	broad.mit.edu	37	22	50898552	50898552	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:50898552G>A	uc003blh.3	-	25	3515	c.3320C>T	c.(3319-3321)tCc>tTc	p.S1107F	SBF1_uc011arx.2_Missense_Mutation_p.S771F	NM_002972	NP_002963	O95248	MTMR5_HUMAN	Homo sapiens SET binding factor 1 (SBF1), mRNA.	1107					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CAGGGCTGAGGACGGGGTCAG	0.687000														15			14		0	0	0.002450	0	0
WDFY1	57590	broad.mit.edu	37	2	224749382	224749382	+	Missense_Mutation	SNP	T	C	C	rs61738569		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:224749382T>C	uc002vnq.3	-	8	967	c.916A>G	c.(916-918)Acg>Gcg	p.T306A		NM_020830	NP_065881	Q8IWB7	WDFY1_HUMAN	Homo sapiens WD repeat and FYVE domain containing 1 (WDFY1), mRNA.	306						cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		AGCCCCAGCGTCTTGGTGTCC	0.453000														151			67		0	0	0.003610	0	0
PRKCQ	5588	broad.mit.edu	37	10	6533674	6533674	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:6533674C>T	uc001iji.1	-	6	944	c.860G>A	c.(859-861)gGa>gAa	p.G287E	PRKCQ_uc001ijj.2_Missense_Mutation_p.G254E|PRKCQ_uc009xim.2_Missense_Mutation_p.G254E|PRKCQ_uc009xin.2_Missense_Mutation_p.G218E|PRKCQ_uc010qax.2_Missense_Mutation_p.G129E	NM_006257	NP_006248	Q04759	KPCT_HUMAN	Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA.	254					T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						CCGTGCCAGTCCCCACAGCAG	0.537000														17			15		0	0	0.006122	0	0
ARIH2	10425	broad.mit.edu	37	3	49005998	49005998	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:49005998C>T	uc003cvb.3	+	6	882	c.570C>T	c.(568-570)ctC>ctT	p.L190L	ARIH2_uc003cvc.3_Silent_p.L190L|ARIH2_uc003cvf.3_Silent_p.L108L|ARIH2_uc010hkl.3_Silent_p.L190L	NM_006321	NP_006312	O95376	ARI2_HUMAN	Homo sapiens ariadne homolog 2 (Drosophila) (ARIH2), mRNA.	190					developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		ACTGTCCACTCCGTACACCAG	0.502000														42			60		0	0	0.003610	0	0
NLGN4Y	22829	broad.mit.edu	37	Y	16953061	16953061	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrY:16953061G>A	uc011nas.1	+	6	2609	c.2430G>A	c.(2428-2430)caG>caA	p.Q810Q	NLGN4Y_uc004fte.2_Silent_p.Q622Q|NLGN4Y_uc004ftg.2_Silent_p.Q790Q|NLGN4Y_uc004ftf.2_Silent_p.Q483Q|NLGN4Y_uc004fth.2_Silent_p.Q790Q	NM_001206850	NP_001193779	Q8NFZ3	NLGNY_HUMAN	Homo sapiens neuroligin 4, Y-linked (NLGN4Y), transcript variant 3, mRNA.	790					brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|integral to plasma membrane|synapse	neurexin binding|receptor activity			large_intestine(3)|lung(7)|prostate(2)|skin(2)	14						TGGGGATGCAGCCTTTACACA	0.483000														20			14		0	0	0.004990	0	0
C20orf194	25943	broad.mit.edu	37	20	3268354	3268354	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:3268354C>T	uc002wii.2	-	26	2461	c.2410G>A	c.(2410-2412)Gag>Aag	p.E804K	C20orf194_uc002wij.3_Missense_Mutation_p.E543K|C20orf194_uc002wik.2_Missense_Mutation_p.E478K	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	Homo sapiens chromosome 20 open reading frame 194 (C20orf194), mRNA.	804										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						TGCTGGGCCTCTAGGGCACTG	0.517000														57			57		0	0	0.003610	0	0
CACNA1A	773	broad.mit.edu	37	19	13476203	13476203	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:13476203G>T	uc002mwy.3	-	4	948	c.712C>A	c.(712-714)Ctt>Att	p.L238I	CACNA1A_uc010xnd.2_Missense_Mutation_p.L238I|CACNA1A_uc021ups.1_Missense_Mutation_p.L238I|CACNA1A_uc010xne.2_Missense_Mutation_p.L238I|CACNA1A_uc010dze.2_Missense_Mutation_p.L238I|CACNA1A_uc021upt.1_Missense_Mutation_p.L238I	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	238					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GCAAAAATAAGGATTGCAAAA	0.453000														41			46		5.48756e-27	7.69997e-27	0.002852	1	0
C1QTNF7	114905	broad.mit.edu	37	4	15443838	15443838	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:15443838G>A	uc003gno.3	+	2	565	c.306G>A	c.(304-306)ggG>ggA	p.G102G	C1QTNF7_uc011bxb.2_Silent_p.G95G|C1QTNF7_uc003gnp.3_Silent_p.G95G	NM_001135170	NP_114117	Q9BXJ2	C1QT7_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 7 (C1QTNF7), transcript variant 1, mRNA.	95	Collagen-like.					collagen				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						GTGAGAAAGGGGACCAAGGAG	0.468000														45			46		0	0	0.003610	0	0
FAM135B	51059	broad.mit.edu	37	8	139163733	139163733	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:139163733G>A	uc003yuy.3	-	12	3156	c.2985C>T	c.(2983-2985)tcC>tcT	p.S995S	FAM135B_uc003yux.3_Silent_p.S896S|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Silent_p.S557S|FAM135B_uc003yvb.3_Silent_p.S557S	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	995										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TCAAAACCTGGGAATGAACGG	0.502000										HNSCC(54;0.14)				37			8		0	0	0.004482	0	0
HSPA2	3306	broad.mit.edu	37	14	65008860	65008860	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:65008860C>T	uc001xhj.3	+	1	1369	c.1293C>T	c.(1291-1293)ttC>ttT	p.F431F	HSPA2_uc001xhk.4_Silent_p.F431F	NM_021979	NP_068814	P54652	HSP72_HUMAN	Homo sapiens heat shock 70kDa protein 2 (HSPA2), mRNA.	431					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		CGCAGACCTTCACCACCTACT	0.587000														5			21		0	0	0.002780	0	0
HNRNPA1L2	144983	broad.mit.edu	37	13	53217429	53217429	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:53217429A>G	uc001vgx.1	+	6	1875	c.802A>G	c.(802-804)Aat>Gat	p.N268D	HNRNPA1L2_uc001vgy.1_Missense_Mutation_p.N268D|HNRNPA1L2_uc001vgz.1_Missense_Mutation_p.N268D|HNRNPA1L2_uc021rjy.1_Missense_Mutation_p.N268D	NM_001011724	NP_001011725	Q32P51	RA1L2_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein A1-like 2 (HNRNPA1L2), transcript variant 1, mRNA.	268	Gly-rich.|Nuclear targeting sequence (By similarity).				RNA splicing|mRNA processing|mRNA transport	cytoplasm|spliceosomal complex	RNA binding|nucleotide binding			cervix(1)|large_intestine(1)|lung(5)	7						CAATTACAACAATCAGTCTTC	0.448000														43			35		0	0	0.003610	0	0
FOXN1	8456	broad.mit.edu	37	17	26854336	26854336	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:26854336C>T	uc010crm.3	+	3	854	c.656C>T	c.(655-657)cCc>cTc	p.P219L	FOXN1_uc002hbj.3_Missense_Mutation_p.P219L	NM_003593	NP_003584	O15353	FOXN1_HUMAN	Homo sapiens forkhead box N1 (FOXN1), mRNA.	219					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					TACCAGCCTCCCTTGCAGCAT	0.572000														11			6		0	0	0.001168	0	0
SLIT1	6585	broad.mit.edu	37	10	98802742	98802742	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:98802742C>T	uc001kmw.2	-	19	2332	c.2080G>A	c.(2080-2082)Ggg>Agg	p.G694R	SLIT1_uc009xvh.1_Missense_Mutation_p.G704R	NM_003061	NP_003052	O75093	SLIT1_HUMAN	Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.	694	LRRCT 3.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	Roundabout binding|calcium ion binding	p.G694R(4)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CGCGGGTTCCCCGTCACGATC	0.612000														18			22		0	0	0.002299	0	0
CNTN4	152330	broad.mit.edu	37	3	2787246	2787246	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:2787246T>A	uc003bpc.3	+	5	562	c.223T>A	c.(223-225)Ttc>Atc	p.F75I	CNTN4_uc003bpb.1_5'UTR|CNTN4_uc021wsg.1_Missense_Mutation_p.F75I|CNTN4_uc003bpd.1_Missense_Mutation_p.F75I	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	75	Ig-like C2-type 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TGGTATGGATTTCCGCTACAG	0.388000														31			62		0	0	0.003610	0	0
FAM155A	728215	broad.mit.edu	37	13	108518260	108518260	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:108518260A>G	uc001vql.3	-	0	1201	c.685T>C	c.(685-687)Tac>Cac	p.Y229H		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	Homo sapiens family with sequence similarity 155, member A (FAM155A), mRNA.	229						integral to membrane	binding	p.S228A(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CAAAGTGTGTAGGAATTACAA	0.567000														68			60		0	0	0.003610	0	0
EEF2K	29904	broad.mit.edu	37	16	22269865	22269866	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:22269865_22269866CC>TT	uc002dki.3	+	9	1565_1566	c.1080_1081CC>TT	c.(1078-1083)ccccaa>ccTTaa	p.Q361*	EEF2K_uc002dkh.3_Non-coding_Transcript	NM_013302	NP_037434	O00418	EF2K_HUMAN	Homo sapiens eukaryotic elongation factor-2 kinase (EEF2K), mRNA.	361			Q -> R (in dbSNP:rs4783453).		insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		GTGGGAGCCCCCAAGTAAGGAC	0.550000														36			17		0	0	0.004672	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18650614	18650614	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:18650614T>G	uc001rdt.3	+	20	2941	c.2825T>G	c.(2824-2826)aTt>aGt	p.I942S	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.I983S|PIK3C2G_uc010sic.2_Missense_Mutation_p.I761S	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	942	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				ATGGACAATATTTGGCTGCAG	0.408000														24			15		0	0	0.003163	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140784598	140784598	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:140784598C>T	uc003lkh.2	+	0	2079	c.2079C>T	c.(2077-2079)ctC>ctT	p.L693L	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_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc011dax.2_Silent_p.L693L	NM_018921	NP_061744	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 9 (PCDHGA9), transcript variant 1, mRNA.	694					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)			CCCTCTACCTCGTTGTGGCTG	0.597000														69			51		0	0	0.003610	0	0
ARSI	340075	broad.mit.edu	37	5	149676816	149676816	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:149676816G>A	uc003lrv.2	-	1	2260	c.1671C>T	c.(1669-1671)ttC>ttT	p.F557F		NM_001012301	NP_001012301	Q5FYB1	ARSI_HUMAN	Homo sapiens arylsulfatase family, member I (ARSI), mRNA.	557						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGAGTTTACGGAAAAAGGATC	0.532000														66			41		0	0	0.003610	0	0
SLC10A2	6555	broad.mit.edu	37	13	103698491	103698491	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:103698491C>T	uc001vpy.4	-	5	1636	c.1039G>A	c.(1039-1041)Gaa>Aaa	p.E347K		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 2 (SLC10A2), mRNA.	347					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GTCTACTTTTCGTCAGGTTGA	0.373000														22			12		0	0	0.004007	0	0
WDR59	79726	broad.mit.edu	37	16	74972116	74972116	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:74972116G>A	uc002fdh.1	-	7	685	c.583C>T	c.(583-585)Cat>Tat	p.H195Y	WDR59_uc002fdi.3_Missense_Mutation_p.H195Y|WDR59_uc021tli.1_Missense_Mutation_p.H174Y	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN	Homo sapiens WD repeat domain 59 (WDR59), mRNA.	195										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						TCCAGGCCATGGATTTTGGAG	0.498000														4			40		0	0	0.001951	0	0
RBM12	10137	broad.mit.edu	37	20	34241216	34241216	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:34241216G>A	uc021wcr.1	-	0	2029	c.2029C>T	c.(2029-2031)Ctg>Ttg	p.L677L	CPNE1_uc010zvj.2_Intron|CPNE1_uc002xde.3_Intron|CPNE1_uc002xdf.3_Intron|CPNE1_uc002xdi.3_Intron|CPNE1_uc002xdj.3_Intron|CPNE1_uc002xdl.3_Intron|CPNE1_uc002xdm.3_Intron|CPNE1_uc010gfk.2_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdq.3_Silent_p.L677L|RBM12_uc002xds.3_Silent_p.L677L|RBM12_uc002xdr.3_Silent_p.L677L|RBM12_uc021wcq.1_Silent_p.L677L	NM_152838	NP_690051	Q9NTZ6	RBM12_HUMAN	Homo sapiens RNA binding motif protein 12 (RBM12), transcript variant 2, mRNA.	677	Gly-rich.|Pro-rich.					nucleus	RNA binding|nucleotide binding|protein binding			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			GAACCAGGCAGTCCTGTGCTG	0.607000														20			17		0	0	0.004007	0	0
LMBR1	64327	broad.mit.edu	37	7	156518178	156518178	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:156518178C>T	uc010lqn.3	-	14	1447	c.1232G>A	c.(1231-1233)cGa>cAa	p.R411Q	LMBR1_uc003wmv.4_Missense_Mutation_p.R218Q|LMBR1_uc003wmw.4_Missense_Mutation_p.R370Q|LMBR1_uc003wmx.4_Missense_Mutation_p.R218Q|LMBR1_uc011kvx.2_Missense_Mutation_p.R349Q	NM_022458	NP_071903	Q8WVP7	LMBR1_HUMAN	Homo sapiens limb region 1 homolog (mouse) (LMBR1), mRNA.	370						integral to membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		TCCAAAAAATCGAAGGCTATA	0.428000														22			17		0	0	0.001216	0	0
SOS2	6655	broad.mit.edu	37	14	50619857	50619857	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:50619857G>A	uc001wxs.4	-	12	2190	c.2092C>T	c.(2092-2094)Cat>Tat	p.H698Y	SOS2_uc010tql.2_Missense_Mutation_p.H665Y|SOS2_uc010tqm.1_Non-coding_Transcript	NM_006939	NP_008870	Q07890	SOS2_HUMAN	Homo sapiens son of sevenless homolog 2 (Drosophila) (SOS2), mRNA.	698	N-terminal Ras-GEF.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|Rho guanyl-nucleotide exchange factor activity|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TCATAAAAATGATGTTCAACC	0.303000														76			77		0	0	0.003610	0	0
NKAPL	222698	broad.mit.edu	37	6	28227220	28227220	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:28227220C>T	uc003nkt.3	+	0	123	c.71C>T	c.(70-72)tCg>tTg	p.S24L	ZKSCAN4_uc011dlb.1_5'Flank	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN	Homo sapiens NFKB activating protein-like (NKAPL), mRNA.	24										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						CGCAGCTCCTCGGGGAGCCCA	0.662000														8			12		0	0	0.001368	0	0
OR5A2	219981	broad.mit.edu	37	11	59190058	59190058	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:59190058C>T	uc010rkt.2	-	0	369	c.369G>A	c.(367-369)cgG>cgA	p.R123R		NM_001001954	NP_001001954	Q8NGI9	OR5A2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily A, member 2 (OR5A2), mRNA.	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						TTGCAGCATACCGGTCATAGG	0.478000														18			5		0	0	0.000602	0	0
SEL1L3	23231	broad.mit.edu	37	4	25780778	25780778	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:25780778C>T	uc003gru.4	-	15	2657	c.2505G>A	c.(2503-2505)atG>atA	p.M835I	SEL1L3_uc003grv.3_Missense_Mutation_p.M242I	NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA.	835						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						AGGTCCCTTCCATGTGTCCAC	0.468000														56			20		0	0	0.001882	0	0
PTPRH	5794	broad.mit.edu	37	19	55716713	55716713	+	Silent	SNP	C	T	T	rs149789995	byFrequency	TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:55716713C>T	uc002qjq.3	-	3	673	c.600G>A	c.(598-600)gaG>gaA	p.E200E	PTPRH_uc010esv.3_Intron|PTPRH_uc002qjs.2_Silent_p.E207E	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.	200	Fibronectin type-III 2.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CATTTCGAGTCTCCCGGGAGC	0.502000														62			36		0	0	0.002222	0	0
SOCS6	9306	broad.mit.edu	37	18	67993350	67993350	+	Silent	SNP	T	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:67993350T>C	uc002lkr.1	+	1	1762	c.1446T>C	c.(1444-1446)acT>acC	p.T482T	SOCS6_uc010dqq.2_Silent_p.T482T|SOCS6_uc021ulj.1_Silent_p.T482T	NM_004232	NP_004223	O14544	SOCS6_HUMAN	Homo sapiens suppressor of cytokine signaling 6 (SOCS6), mRNA.	482	SH2.				JAK-STAT cascade|defense response|negative regulation of signal transduction|regulation of growth	cytoplasm				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				GATCTGCAACTTACCCCGTCA	0.468000														22			29		0	0	0.002445	0	0
C20orf160	140706	broad.mit.edu	37	20	30610566	30610566	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:30610566C>T	uc002wxf.2	+	5	1050	c.1037C>T	c.(1036-1038)tCc>tTc	p.S346F	C20orf160_uc002wxg.2_5'UTR	NM_080625	NP_542192	Q9NUG4	CT160_HUMAN	Homo sapiens chromosome 20 open reading frame 160 (C20orf160), mRNA.	346										central_nervous_system(3)|endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	23						CACTACACATCCACACCTGAA	0.577000														14			13		0	0	0.002450	0	0
ABCA12	26154	broad.mit.edu	37	2	215901764	215901764	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:215901764A>C	uc002vew.3	-	7	1118	c.898T>G	c.(898-900)Tat>Gat	p.Y300D	ABCA12_uc010zjn.2_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	300					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AAACGTGGATAAACCTTCTGC	0.413000														25			10		0	0	0.001855	0	0
LRP1	4035	broad.mit.edu	37	12	57571294	57571295	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:57571294_57571295CC>TT	uc001snd.3	+	25	4747_4748	c.4281_4282CC>TT	c.(4279-4284)caccgg>caTTgg	p.R1428W		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	1428					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCACCGTGCACCGGGAGACCGG	0.668000														14			30		0	0	0.004672	0	0
ISM2	145501	broad.mit.edu	37	14	77950775	77950775	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:77950775C>T	uc001xtz.3	-	2	592	c.518G>A	c.(517-519)gGg>gAg	p.G173E	ISM2_uc001xua.3_Missense_Mutation_p.G173E|ISM2_uc001xty.3_Missense_Mutation_p.G85E	NM_199296	NP_954993	Q6H9L7	ISM2_HUMAN	Homo sapiens isthmin 2 homolog (zebrafish) (ISM2), transcript variant 1, mRNA.	173						extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						CGTGGCATTCCCTGGGGTCAG	0.602000														44			31		0	0	0.002445	0	0
RNF183	138065	broad.mit.edu	37	9	116060359	116060359	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:116060359A>C	uc022bmd.1	-	0	106	c.106T>G	c.(106-108)Ttc>Gtc	p.F36V	RNF183_uc004bgz.3_Missense_Mutation_p.F36V|RNF183_uc004bha.3_Missense_Mutation_p.F36V	NM_145051	NP_659488	Q96D59	RN183_HUMAN	Homo sapiens ring finger protein 183 (RNF183), mRNA.	36						integral to membrane	zinc ion binding			lung(1)|prostate(1)|skin(1)	3						TCCACGCAGAAGGAGTGGCAG	0.637000														13			26		0	0	0.003954	0	0
CTNNA3	29119	broad.mit.edu	37	10	68381491	68381491	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:68381491C>T	uc009xpn.1	-	9	1456	c.1333G>A	c.(1333-1335)Gtc>Atc	p.V445I	CTNNA3_uc001jmw.2_Missense_Mutation_p.V445I|CTNNA3_uc001jmx.4_Missense_Mutation_p.V445I	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	445					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						GCAATTTTGACAATTTTAATT	0.294000														16			6		0	0	0.001984	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140208139	140208139	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:140208139G>A	uc003lho.2	+	0	490	c.463G>A	c.(463-465)Gag>Aag	p.E155K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Missense_Mutation_p.E155K|PCDHAC2_uc011dab.2_Missense_Mutation_p.E155K	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	170	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTTCCACTGGAGGGCGCGTC	0.473000														54			60		0	0	0.003610	0	0
IFITM3	10410	broad.mit.edu	37	11	320715	320716	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:320715_320716CC>TT	uc001lpa.2	-	0	199_200	c.98_99GG>AA	c.(97-99)ggg>gAA	p.G33E	BC040735_uc001loz.3_Intron	NM_021034	NP_066362	Q01628	IFM3_HUMAN	Homo sapiens interferon induced transmembrane protein 3 (IFITM3), mRNA.	33					response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane				central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1)	18		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		TGTGGGGCGCCCCCAGCACAGC	0.609000														25			50		0	0	0.004672	0	0
TTC18	118491	broad.mit.edu	37	10	75034301	75034301	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:75034301G>A	uc009xrc.3	-	23	3056	c.2935C>T	c.(2935-2937)Cat>Tat	p.H979Y	TTC18_uc001jty.3_Missense_Mutation_p.H979Y|DNAJC9-AS1_uc021ptm.1_Non-coding_Transcript|TTC18_uc001jtv.4_Missense_Mutation_p.H83Y|TTC18_uc001jtw.4_Missense_Mutation_p.H83Y|TTC18_uc001jtx.3_Missense_Mutation_p.H360Y	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN	Homo sapiens tetratricopeptide repeat domain 18 (TTC18), mRNA.	979							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					GCCTCAGAATGATTTCCACTC	0.443000														55			45		0	0	0.003214	0	0
VAV1	7409	broad.mit.edu	37	19	6820742	6820742	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:6820742C>T	uc002mfu.1	+	1	331	c.234C>T	c.(232-234)ttC>ttT	p.F78F	VAV1_uc010xjh.1_Silent_p.F78F|VAV1_uc010dva.1_Silent_p.F78F|VAV1_uc002mfv.1_Silent_p.F23F	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	78	CH.|Leu-rich.				T cell costimulation|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						TTAGAACCTTCCTGTCCACCT	0.552000														98			22		0	0	0.003330	0	0
MIPOL1	145282	broad.mit.edu	37	14	37969155	37969155	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:37969155G>A	uc001wud.3	+	13	1716	c.1074G>A	c.(1072-1074)caG>caA	p.Q358Q	MIPOL1_uc010amr.2_Non-coding_Transcript|MIPOL1_uc001wub.4_Silent_p.Q327Q|MIPOL1_uc010ams.3_Silent_p.Q358Q|MIPOL1_uc001wuc.3_Silent_p.Q358Q|MIPOL1_uc001wue.3_Silent_p.Q327Q|MIPOL1_uc010amt.3_Silent_p.Q177Q	NM_001195297	NP_001182226	Q8TD10	MIPO1_HUMAN	Homo sapiens mirror-image polydactyly 1 (MIPOL1), transcript variant 2, mRNA.	358										breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		TGAAGGATCAGTTTAACTATA	0.299000														26			20		0	0	0.001523	0	0
SNUPN	10073	broad.mit.edu	37	15	75890738	75890738	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:75890738G>A	uc002ban.3	-	8	1134	c.1044C>T	c.(1042-1044)tcC>tcT	p.S348S	SNUPN_uc002bap.3_Silent_p.S390S|SNUPN_uc002baq.3_Silent_p.S348S|SNUPN_uc002bar.3_Silent_p.S348S|SNUPN_uc002bas.3_Silent_p.S348S	NM_005701	NP_005692	O95149	SPN1_HUMAN	Homo sapiens snurportin 1 (SNUPN), transcript variant 1, mRNA.	348					ncRNA metabolic process|protein import into nucleus|spliceosomal snRNP assembly	cytosol|nuclear pore	RNA cap binding|protein transporter activity			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)	8						CTGGGCTATGGGAAGAACCCT	0.517000														46			35		0	0	0.001951	0	0
PCNXL3	399909	broad.mit.edu	37	11	65386194	65386194	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:65386194C>T	uc001oey.2	+	5	1361	c.1361C>T	c.(1360-1362)tCc>tTc	p.S454F		NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	Homo sapiens pecanex-like 3 (Drosophila) (PCNXL3), mRNA.	454	Ser-rich.					integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						TCCTGCTACTCCCCTGAGAGC	0.652000														10			10		0	0	0.000673	0	0
OR6B1	135946	broad.mit.edu	37	7	143701623	143701623	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:143701623C>T	uc003wdt.1	+	0	534	c.534C>T	c.(532-534)ttC>ttT	p.F178F		NM_001005281	NP_001005281	O95007	OR6B1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 1 (OR6B1), mRNA.	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					ACCACTTCTTCTGTGACATCT	0.488000														14			18		0	0	0.007413	0	0
FAM129A	116496	broad.mit.edu	37	1	184800994	184800994	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:184800994C>T	uc001gra.3	-	5	898	c.704G>A	c.(703-705)gGg>gAg	p.G235E	FAM129A_uc001grb.1_Missense_Mutation_p.G33E|FAM129A_uc009wyh.1_Intron|FAM129A_uc009wyi.1_Missense_Mutation_p.G33E	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.	235					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						GATTTCATCCCCAGTGATCAT	0.408000														50			8		0	0	0.004482	0	0
PHF2	5253	broad.mit.edu	37	9	96437289	96437290	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:96437289_96437290CC>TT	uc004aub.3	+	18	2854_2855	c.2707_2708CC>TT	c.(2707-2709)ccc>TTc	p.P903F	PHF2_uc011lug.1_Missense_Mutation_p.P786F|PHF2_uc004auc.3_Missense_Mutation_p.P323F	NM_005392	NP_005383	O75151	PHF2_HUMAN	Homo sapiens PHD finger protein 2 (PHF2), mRNA.	903					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		AGACGACGCTCCCTACAGCCCA	0.564000														17			12		0	0	0.004672	0	0
GPR83	10888	broad.mit.edu	37	11	94113726	94113726	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:94113726C>T	uc001pet.2	-	3	1033	c.861G>A	c.(859-861)aaG>aaA	p.K287K		NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN	Homo sapiens G protein-coupled receptor 83 (GPR83), mRNA.	287						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TGGTCTTCTTCTTTTTGCGCC	0.532000														18			9		0	0	0.000673	0	0
TDRD6	221400	broad.mit.edu	37	6	46660891	46660891	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:46660891G>A	uc003oyj.3	+	0	5280	c.5026G>A	c.(5026-5028)Gat>Aat	p.D1676N	TDRD6_uc010jze.3_Missense_Mutation_p.D1676N	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.	1676					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GGATGTTTGTGATATCCCTTT	0.313000														14			15		0	0	0.004990	0	0
MUC16	94025	broad.mit.edu	37	19	8976423	8976423	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:8976423C>T	uc002mkp.3	-	74	42609	c.42405G>A	c.(42403-42405)aaG>aaA	p.K14135K	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Silent_p.K935K|MUC16_uc021uog.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	14166	SEA 14.			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						CTGCCCCATCCTTCTCAGGCC	0.612000														12			5		0	0	0.000602	0	0
OR8K3	219473	broad.mit.edu	37	11	56086579	56086579	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:56086579C>T	uc010rjf.2	+	0	797	c.797C>T	c.(796-798)tCc>tTc	p.S266F		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TCCAGTCATTCCTTTGACACT	0.423000														29			7		0	0	0.004482	0	0
NLRP2	55655	broad.mit.edu	37	19	55494434	55494434	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:55494434G>A	uc021vbq.1	+	5	1479	c.1368G>A	c.(1366-1368)caG>caA	p.Q456Q	NLRP2_uc010yfp.2_Silent_p.Q433Q|NLRP2_uc002qij.3_Silent_p.Q456Q|NLRP2_uc010esp.3_Silent_p.Q434Q|NLRP2_uc010esn.3_Silent_p.Q432Q|NLRP2_uc010eso.3_Silent_p.Q453Q	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	456	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TGGCCGCGCAGGGCCTGTGGG	0.697000														22			23		0	0	0.005443	0	0
FZR1	51343	broad.mit.edu	37	19	3527673	3527673	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:3527673C>T	uc010dtk.2	+	5	549	c.515C>T	c.(514-516)tCc>tTc	p.S172F	FZR1_uc002lxt.2_Missense_Mutation_p.S172F|FZR1_uc002lxv.2_Intron	NM_001136198	NP_001129670	Q9UM11	FZR_HUMAN	Homo sapiens fizzy/cell division cycle 20 related 1 (Drosophila) (FZR1), transcript variant 1, mRNA.	172					DNA repair|G2/M transition DNA damage checkpoint|S phase of mitotic cell cycle|activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm	protein binding			endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCAAGATCTCCAAGATCCCC	0.632000														18			14		0	0	0.003163	0	0
RERE	473	broad.mit.edu	37	1	8418865	8418865	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:8418865G>A	uc001ape.3	-	20	4540	c.3730C>T	c.(3730-3732)Ccc>Tcc	p.P1244S	RERE_uc001apf.3_Missense_Mutation_p.P1244S|RERE_uc001apd.3_Missense_Mutation_p.P690S	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	1244					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)		CCGATGTAGGGGGGCACAGCA	0.647000														34			70		0	0	0.003610	0	0
ANO4	121601	broad.mit.edu	37	12	101488063	101488063	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:101488063G>A	uc010svm.1	+	17	2303	c.1731G>A	c.(1729-1731)acG>acA	p.T577T	ANO4_uc001thw.2_Silent_p.T542T|ANO4_uc001thx.2_Silent_p.T577T|ANO4_uc001thy.2_Silent_p.T97T	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	577						chloride channel complex	chloride channel activity	p.I576I(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TGCTTCTGACGAATTTAGGTG	0.328000										HNSCC(74;0.22)				7			20		0	0	0.002299	0	0
HIVEP3	59269	broad.mit.edu	37	1	41978995	41978995	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:41978995C>T	uc001cgz.4	-	7	7110	c.5897G>A	c.(5896-5898)aGa>aAa	p.R1966K	HIVEP3_uc001cha.4_Missense_Mutation_p.R1966K|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.	1966					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.P1965T(1)		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)				CCACGGTCTTCTTGGGGACAC	0.622000														23			54		0	0	0.003610	0	0
CELSR2	1952	broad.mit.edu	37	1	109795545	109795545	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:109795545C>T	uc001dxa.4	+	0	2905	c.2844C>T	c.(2842-2844)ccC>ccT	p.P948P		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	948	Cadherin 8.				Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CCACTGACCCCGATGAAGGCA	0.557000														193			366		0	0	0.003610	0	0
TSPAN18	90139	broad.mit.edu	37	11	44939592	44939592	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:44939592G>A	uc001myg.3	+	2	338	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	TSPAN18_uc001mye.4_Missense_Mutation_p.E110K|TP53I11_uc001myf.1_Intron	NM_130783	NP_570139	Q96SJ8	TSN18_HUMAN	Homo sapiens tetraspanin 18 (TSPAN18), mRNA.	110						integral to membrane				endometrium(1)|large_intestine(6)|lung(3)	10						CATCTTCAGGGAAAATGTACG	0.557000														60			21		0	0	0.004656	0	0
GOLGA2P5	55592	broad.mit.edu	37	12	100560137	100560137	+	RNA	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:100560137G>A	uc001tgy.4	-	2		c.473C>T			GOLGA2P5_uc021rcm.1_Intron|GOLGA2P5_uc001tgz.4_Non-coding_Transcript					Homo sapiens golgin A2 pseudogene 5 (GOLGA2P5), transcript variant 2, non-coding RNA.																		CTGCAGCGGAGACAGCTGCTC	0.547000														3			4		0	0	0.000248	0	0
AGBL1	123624	broad.mit.edu	37	15	86822874	86822874	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:86822874C>T	uc002blz.1	+	14	2022	c.1942C>T	c.(1942-1944)Cat>Tat	p.H648Y	AGBL1_uc002bma.1_Missense_Mutation_p.H379Y|AGBL1_uc002bmb.1_Missense_Mutation_p.H342Y	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	648					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						cttTAGAAATCATTATCGCCA	0.498000														1			22		0	0	0.001523	0	0
TTC8	123016	broad.mit.edu	37	14	89337973	89337973	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:89337973A>T	uc010ath.3	+	11	1312	c.1178A>T	c.(1177-1179)gAt>gTt	p.D393V	TTC8_uc001xxi.3_Missense_Mutation_p.D377V|TTC8_uc001xxj.3_Missense_Mutation_p.D367V|TTC8_uc001xxk.3_Missense_Mutation_p.D337V|TTC8_uc001xxl.3_Missense_Mutation_p.D138V|TTC8_uc010ati.3_Missense_Mutation_p.D179V|TTC8_uc010atj.3_Missense_Mutation_p.D112V	NM_198309	NP_938051	Q8TAM2	TTC8_HUMAN	Homo sapiens tetratricopeptide repeat domain 8 (TTC8), transcript variant 2, mRNA.	403					cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						CAGCAGTATGATATGACTCTG	0.458000														23			39		0	0	0.004878	0	0
CSMD3	114788	broad.mit.edu	37	8	114111144	114111144	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:114111144G>A	uc003ynu.3	-	4	917	c.758C>T	c.(757-759)tCc>tTc	p.S253F	CSMD3_uc003ynt.3_Missense_Mutation_p.S213F|CSMD3_uc011lhx.2_Missense_Mutation_p.S253F|CSMD3_uc010mcx.1_Missense_Mutation_p.S253F	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	253	CUB 2.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACTAGGGCTGGATATGATGCC	0.378000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				5			5		0	0	0.000602	0	0
NLRP8	126205	broad.mit.edu	37	19	56459573	56459573	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:56459573C>G	uc002qmh.3	+	0	376	c.305C>G	c.(304-306)tCg>tGg	p.S102W	NLRP8_uc010etg.3_Missense_Mutation_p.S102W	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	102	DAPIN.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GATGTGACTTCGAACATCTTT	0.507000														29			18		0	0	0.001216	0	0
ATP13A4	84239	broad.mit.edu	37	3	193156832	193156832	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:193156832C>T	uc003ftd.3	-	21	2650	c.2542G>A	c.(2542-2544)Gat>Aat	p.D848N	ATP13A4_uc010hzi.3_Non-coding_Transcript	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	848					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TTGGCTCCATCACCACACATA	0.393000														62			23		0	0	0.006320	0	0
DCLK2	166614	broad.mit.edu	37	4	151114356	151114356	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:151114356C>T	uc003ilo.4	+	2	1577	c.823C>T	c.(823-825)Cgt>Tgt	p.R275C	DCLK2_uc003ilp.4_Non-coding_Transcript|DCLK2_uc003ilm.4_Missense_Mutation_p.R275C|DCLK2_uc003iln.4_Missense_Mutation_p.R275C	NM_001040261	NP_001035351	Q8N568	DCLK2_HUMAN	Homo sapiens doublecortin-like kinase 2 (DCLK2), transcript variant 2, mRNA.	275	Doublecortin 2.				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					AGAAAAATTTCGTTATGCCCA	0.368000														112			42		0	0	0.003214	0	0
IREB2	3658	broad.mit.edu	37	15	78781069	78781069	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:78781069C>T	uc002bdr.2	+	15	2194	c.2032C>T	c.(2032-2034)Cat>Tat	p.H678Y	IREB2_uc010unb.1_Missense_Mutation_p.H428Y	NM_004136	NP_004127	P48200	IREB2_HUMAN	Homo sapiens iron-responsive element binding protein 2 (IREB2), mRNA.	678							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)		AGAGGAAGAACATGTTATACT	0.328000														29			20		0	0	0.002780	0	0
SMC1B	27127	broad.mit.edu	37	22	45755719	45755719	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:45755719A>G	uc003bgc.3	-	17	2880	c.2828T>C	c.(2827-2829)tTg>tCg	p.L943S	SMC1B_uc003bgd.3_Missense_Mutation_p.L943S	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	Homo sapiens structural maintenance of chromosomes 1B (SMC1B), mRNA.	943					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TGACCCCGACAAAAGGATTAT	0.388000														24			18		0	0	0.001523	0	0
QRICH2	84074	broad.mit.edu	37	17	74288341	74288341	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:74288341G>A	uc002jrd.1	-	3	2149	c.1969C>T	c.(1969-1971)Caa>Taa	p.Q657*	QRICH2_uc010dgw.1_Intron	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	Homo sapiens glutamine rich 2 (QRICH2), mRNA.	657	Gln-rich.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						actccaggttggaccaaacca	0.542000														20			21		0	0	0.002780	0	0
ATP13A5	344905	broad.mit.edu	37	3	193031933	193031933	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:193031933G>A	uc011bsq.2	-	18	2208	c.2208C>T	c.(2206-2208)atC>atT	p.I736I		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	736					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TGCCTGGAGGGATCATTTCAG	0.473000														29			5		0	0	0.000602	0	0
PINK1	65018	broad.mit.edu	37	1	20964586	20964586	+	Silent	SNP	C	T	T	rs139649940	byFrequency	TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:20964586C>T	uc001bdm.3	+	1	733	c.639C>T	c.(637-639)gcC>gcT	p.A213A		NM_032409	NP_115785	Q9BXM7	PINK1_HUMAN	Homo sapiens PTEN induced putative kinase 1 (PINK1), nuclear gene encoding mitochondrial protein, mRNA.	213	Protein kinase.				cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress	cytosol|integral to membrane|mitochondrial outer membrane	ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGGCCCCTGCCTTCCCCTTGG	0.572000														15			39		0	0	0.003610	0	0
DSE	29940	broad.mit.edu	37	6	116756814	116756814	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:116756814G>A	uc011ebg.2	+	5	1339	c.1240G>A	c.(1240-1242)Gaa>Aaa	p.E414K	DSE_uc003pws.3_Missense_Mutation_p.E395K|DSE_uc003pwt.3_Missense_Mutation_p.E395K|DSE_uc003pwu.3_Missense_Mutation_p.E62K	NM_013352	NP_037484	Q9UL01	DSE_HUMAN	Homo sapiens dermatan sulfate epimerase (DSE), transcript variant 1, mRNA.	395					dermatan sulfate biosynthetic process	Golgi apparatus|endoplasmic reticulum|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		GCATTATTTTGAAGACTGGGG	0.413000														24			14		0	0	0.004007	0	0
PAK7	57144	broad.mit.edu	37	20	9546766	9546766	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:9546766G>A	uc002wnl.2	-	5	1801	c.1256C>T	c.(1255-1257)tCc>tTc	p.S419F	PAK7_uc002wnk.2_Missense_Mutation_p.S419F|PAK7_uc002wnj.2_Missense_Mutation_p.S419F|PAK7_uc010gby.1_Missense_Mutation_p.S419F	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	419	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CTGGTCGGAGGAGGAGCCCCA	0.642000														26			21		0	0	0.001523	0	0
SLC12A8	84561	broad.mit.edu	37	3	124829174	124829174	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:124829174G>A	uc003ehw.4	-	8	1075	c.1005C>T	c.(1003-1005)tcC>tcT	p.S335S	SLC12A8_uc003ehv.4_Silent_p.S306S|SLC12A8_uc003eht.4_Silent_p.S107S|SLC12A8_uc010hry.3_Silent_p.S59S	NM_024628	NP_078904	A0AV02	S12A8_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 8 (SLC12A8), transcript variant 1, mRNA.	306					potassium ion transport	integral to membrane	symporter activity	p.S306S(1)		endometrium(2)|kidney(2)|lung(12)	16						AGCCCATGAGGGATACCTGTG	0.572000														6			12		0	0	0.003163	0	0
KIAA1549	57670	broad.mit.edu	37	7	138603463	138603463	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:138603463G>A	uc011kql.2	-	1	958	c.909C>T	c.(907-909)tcC>tcT	p.S303S	KIAA1549_uc011kqj.2_Silent_p.S303S	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	303						integral to membrane		p.A303T(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CCTCCCCCAAGGAGGGCAACG	0.522000			O	BRAF	pilocytic astrocytoma									33			13		0	0	0.004990	0	0
ARHGEF40	55701	broad.mit.edu	37	14	21546603	21546603	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:21546603T>G	uc001vzp.3	+	9	2231	c.2202T>G	c.(2200-2202)gaT>gaG	p.D734E	ARHGEF40_uc001vzo.1_Intron|ARHGEF40_uc010aij.3_Non-coding_Transcript|ARHGEF40_uc010tln.2_Missense_Mutation_p.D20E	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 40 (ARHGEF40), mRNA.	734					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						TGCAGAGGGATGGGGGGGCCA	0.632000														52			30		0	0	0.004289	0	0
IGSF5	150084	broad.mit.edu	37	21	41165490	41165490	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr21:41165490G>A	uc002yyo.3	+	7	1181	c.1078G>A	c.(1078-1080)Gaa>Aaa	p.E360K		NM_001080444	NP_001073913	Q9NSI5	IGSF5_HUMAN	Homo sapiens immunoglobulin superfamily, member 5 (IGSF5), mRNA.	360						integral to membrane|tight junction				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				CAAATCCTGTGAATCCAGTGA	0.418000														63			69		0	0	0.003610	0	0
ADH1A	124	broad.mit.edu	37	4	100201357	100201357	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:100201357G>T	uc003hur.2	-	6	1022	c.908C>A	c.(907-909)tCa>tAa	p.S303*	LOC100507053_uc003hum.2_Intron	NM_000667	NP_000658	P07327	ADH1A_HUMAN	Homo sapiens alcohol dehydrogenase 1A (class I), alpha polypeptide (ADH1A), mRNA.	303					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	AGGGTTCATTGAGAGGTTTTG	0.463000														52			73		1.96331e-54	2.76481e-54	0.003610	1	0
TUBGCP4	27229	broad.mit.edu	37	15	43693968	43693968	+	Silent	SNP	C	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:43693968C>A	uc001zro.3	+	14	1894	c.1654C>A	c.(1654-1656)Cga>Aga	p.R552R	TUBGCP4_uc001zrn.3_Silent_p.R551R|TUBGCP4_uc010bdh.3_Non-coding_Transcript	NM_014444	NP_055259	Q9UGJ1	GCP4_HUMAN	Homo sapiens tubulin, gamma complex associated protein 4 (TUBGCP4), mRNA.	552					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		CAATTCTACCCGAGACTTTGA	0.408000														63			41		2.24722e-20	3.14756e-20	0.003610	1	0
CCDC170	80129	broad.mit.edu	37	6	151914323	151914323	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:151914323G>A	uc003qol.3	+	7	1464	c.1375G>A	c.(1375-1377)Gac>Aac	p.D459N		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	Homo sapiens chromosome 6 open reading frame 97 (C6orf97), mRNA.	459																	CATGCGGCTGGACGTGGTTTT	0.453000														23			17		0	0	0.006122	0	0
FADS6	283985	broad.mit.edu	37	17	72878757	72878757	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:72878757C>T	uc002jmd.1	-	2	453	c.441G>A	c.(439-441)ggG>ggA	p.G147G	FADS6_uc010wrn.1_Missense_Mutation_p.G64E	NM_178128	NP_835229	Q8N9I5	FADS6_HUMAN	Homo sapiens fatty acid desaturase domain family, member 6 (FADS6), mRNA.	153					fatty acid biosynthetic process	integral to membrane	oxidoreductase activity			endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					TGCTGGAGTCCCCCAGGCCCA	0.612000														7			8		0	0	0.003080	0	0
ZNF700	90592	broad.mit.edu	37	19	12059396	12059396	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:12059396G>C	uc010xme.2	+	4	802	c.611G>C	c.(610-612)aGg>aCg	p.R204T	ZNF700_uc002msu.3_Missense_Mutation_p.R186T|ZNF700_uc010xmf.2_Intron			Q9H0M5	ZN700_HUMAN	Homo sapiens zinc finger protein 700 (ZNF700), mRNA.	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						ACACAAGAAAGGGATCACACT	0.403000														27			20		0	0	0.001216	0	0
LOXL3	84695	broad.mit.edu	37	2	74779607	74779607	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:74779607T>A	uc002smp.1	-	1	227	c.155A>T	c.(154-156)aAg>aTg	p.K52M	LOXL3_uc002smo.1_5'Flank|LOXL3_uc010ffm.1_Missense_Mutation_p.K52M|LOXL3_uc002smq.1_Missense_Mutation_p.K52M|LOXL3_uc010ffn.1_Missense_Mutation_p.K52M|DOK1_uc002smr.3_Intron|DOK1_uc002sms.3_5'Flank|DOK1_uc010ffo.3_5'Flank|DOK1_uc002smt.3_5'Flank|DOK1_uc002smu.3_5'Flank|DOK1_uc010yrz.2_5'Flank|DOK1_uc002smw.1_5'Flank	NM_032603	NP_115992	P58215	LOXL3_HUMAN	Homo sapiens lysyl oxidase-like 3 (LOXL3), mRNA.	52	SRCR 1.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CTCGTAGGGCTTCCTGGGGAA	0.657000														23			20		0	0	0.003330	0	0
PTPRK	5796	broad.mit.edu	37	6	128316682	128316682	+	Splice_Site	SNP	A	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:128316682A>C	uc003qbk.3	-	18	3132	c.2765_splice	c.e18-1	p.Y922_splice	PTPRK_uc010kfc.3_Splice_Site_p.Y923_splice|PTPRK_uc003qbj.3_Splice_Site_p.Y923_splice|PTPRK_uc011ebu.2_Splice_Site_p.Y939_splice	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	922	Tyrosine-protein phosphatase 1.				cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TGGAGTGATCATCtaaaattt	0.323000														3			3		0	0	0.000248	0	0
ENAM	10117	broad.mit.edu	37	4	71500252	71500252	+	Silent	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:71500252A>G	uc011caw.1	+	5	719	c.438A>G	c.(436-438)caA>caG	p.Q146Q		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	146					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CACATAATCAACCTCAGCCCG	0.488000														28			12		0	0	0.001855	0	0
AKT3	10000	broad.mit.edu	37	1	243859016	243859016	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:243859016C>T	uc001iab.2	-	1	161	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K	AKT3_uc001hzz.1_Missense_Mutation_p.E17K|AKT3_uc021plu.1_Missense_Mutation_p.E17K	NM_005465	NP_005456	Q9Y243	AKT3_HUMAN	Homo sapiens v-akt murine thymoma viral oncogene homolog 3 (protein kinase B, gamma) (AKT3), transcript variant 1, mRNA.	17	PH.				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	p.E17K(6)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			TTTATATATTCTCCTACATGA	0.348000														10			6		0	0	0.004482	0	0
LZTR1	8216	broad.mit.edu	37	22	21340161	21340161	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:21340161G>A	uc002zto.3	+	2	398	c.295G>A	c.(295-297)Gat>Aat	p.D99N	LZTR1_uc002ztn.3_Missense_Mutation_p.D58N|LZTR1_uc011ahy.2_Intron|LZTR1_uc010gsr.1_5'Flank	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.	99					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CCTGCGGTTCGATGTGAAAGA	0.597000														19			15		0	0	0.006122	0	0
SLC38A3	10991	broad.mit.edu	37	3	50253244	50253244	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:50253244A>G	uc003cyn.4	+	6	677	c.536A>G	c.(535-537)gAg>gGg	p.E179G	SLC38A3_uc011bdl.2_Missense_Mutation_p.E155G|SLC38A3_uc011bdm.2_Missense_Mutation_p.E111G	NM_006841	NP_006832	Q99624	S38A3_HUMAN	Homo sapiens solute carrier family 38, member 3 (SLC38A3), mRNA.	180					cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|antiporter activity|symporter activity			breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)	AACCTGGAGGAGAAAACCTCG	0.662000														2			3		0	0	0.004672	0	0
DNAH7	56171	broad.mit.edu	37	2	196718227	196718227	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:196718227T>C	uc002utj.4	-	45	8722	c.8621A>G	c.(8620-8622)gAa>gGa	p.E2874G		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2874					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTCAGCTCGTTCTAGTTTTTT	0.413000														5			9		0	0	0.006214	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47606130	47606130	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:47606130G>A	uc002xtx.4	+	19	2875	c.2723G>A	c.(2722-2724)gGa>gAa	p.G908E	ARFGEF2_uc010zyf.2_Missense_Mutation_p.G201E	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.	908					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	Golgi membrane|cytosol	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TACAGCATCGGACTCCAGAAC	0.488000														49			46		0	0	0.003610	0	0
PPM1J	333926	broad.mit.edu	37	1	113255384	113255384	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:113255384C>T	uc001ect.1	-	2	738	c.711G>A	c.(709-711)gaG>gaA	p.E237E	PPM1J_uc009wgl.1_5'Flank|PPM1J_uc001ecs.1_Silent_p.E31E	NM_005167	NP_005158	Q5JR12	PPM1J_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1J (PPM1J), mRNA.	237	PP2C-like.							p.E237D(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGAAGGCATTCTCAACGGCCC	0.597000														20			62		0	0	0.003610	0	0
SRRM2	23524	broad.mit.edu	37	16	2817906	2817906	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:2817906C>T	uc002crk.3	+	10	7926	c.7377C>T	c.(7375-7377)tcC>tcT	p.S2459S	SRRM2_uc002crj.1_Silent_p.S2363S|SRRM2_uc002crl.1_Silent_p.S2459S|SRRM2_uc010bsu.1_Silent_p.S2363S	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	2459	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CAGACCAATCCCGTTGTTTGA	0.572000														20			22		0	0	0.002299	0	0
OR52J3	119679	broad.mit.edu	37	11	5068078	5068078	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:5068078C>T	uc010qyv.2	+	0	323	c.323C>T	c.(322-324)gCc>gTc	p.A108V		NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily J, member 3 (OR52J3), mRNA.	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGATCCATGCCTTCACTGGC	0.498000														6			9		0	0	0.000978	0	0
TG	7038	broad.mit.edu	37	8	133900807	133900807	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:133900807C>T	uc003ytw.3	+	9	2796	c.2755C>T	c.(2755-2757)Cca>Tca	p.P919S		NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	919	Thyroglobulin type-1 7.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AAGCAAGCTCCCAACATGTGA	0.463000														14			7		0	0	0.004482	0	0
DEFB125	245938	broad.mit.edu	37	20	76660	76660	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:76660C>T	uc002wcw.3	+	1	73	c.73C>T	c.(73-75)Caa>Taa	p.Q25*		NM_153325	NP_697020	Q8N687	DB125_HUMAN	Homo sapiens defensin, beta 125 (DEFB125), mRNA.	25					defense response to bacterium	extracellular region				central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.156)			CTTTGAACCCCAAAAATGTTG	0.333000														37			17		0	0	0.001216	0	0
DOK7	285489	broad.mit.edu	37	4	3495006	3495006	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:3495006C>T	uc003ghd.3	+	6	1363	c.1293C>T	c.(1291-1293)gcC>gcT	p.A431A	DOK7_uc003ghe.3_3'UTR|DOK7_uc003ghf.3_Missense_Mutation_p.P173L|DOK7_uc003ghg.1_Silent_p.A121A	NM_173660	NP_775931	Q18PE1	DOK7_HUMAN	Homo sapiens docking protein 7 (DOK7), transcript variant 1, mRNA.	431					positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		ACAGTGCGGCCAGGGACTCAG	0.721000														8			9		0	0	0.004482	0	0
ATP1A3	478	broad.mit.edu	37	19	42471896	42471896	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:42471896C>T	uc002osh.3	-	20	2993	c.2839G>A	c.(2839-2841)Ggg>Agg	p.G947R	ATP1A3_uc010xwf.2_Missense_Mutation_p.G958R|ATP1A3_uc010xwg.2_Missense_Mutation_p.G917R|ATP1A3_uc002osg.3_Missense_Mutation_p.G947R|ATP1A3_uc010xwh.2_Missense_Mutation_p.G960R			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	947					ATP biosynthetic process	Golgi apparatus|endoplasmic reticulum	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						TCAAACAGCCCGAAGATCAGG	0.662000														19			10		0	0	0.000978	0	0
OR13C4	138804	broad.mit.edu	37	9	107288793	107288793	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:107288793C>T	uc011lvn.2	-	0	698	c.698G>A	c.(697-699)gGa>gAa	p.G233E		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 4 (OR13C4), mRNA.	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						CTTGTGTCTTCCTGTGGCCGA	0.428000														45			23		0	0	0.003954	0	0
GIMAP8	155038	broad.mit.edu	37	7	150164277	150164277	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:150164277G>A	uc003whj.3	+	1	821	c.491G>A	c.(490-492)cGa>cAa	p.R164Q		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	164						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding	p.R164Q(2)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TATGAGGGCCGATACTGCATT	0.443000														26			17		0	0	0.007413	0	0
MYO15A	51168	broad.mit.edu	37	17	18023761	18023761	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:18023761C>T	uc021trm.1	+	0	1866	c.1647C>T	c.(1645-1647)ttC>ttT	p.F549F	MYO15A_uc021trl.1_Silent_p.F549F	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	549	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGTCGGCCTTCGGCGCCCACC	0.716000														2			3		0	0	0.004672	0	0
ZNF835	90485	broad.mit.edu	37	19	57175706	57175706	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:57175706G>A	uc010ygn.2	-	1	1088	c.861C>T	c.(859-861)ttC>ttT	p.F287F		NM_001005850	NP_001005850			Homo sapiens zinc finger protein 835 (ZNF835), mRNA.											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CGATCTGCGCGAAGGCCTTGG	0.697000														2			6		0	0	0.001984	0	0
CHGA	1113	broad.mit.edu	37	14	93399099	93399099	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:93399099C>T	uc001ybc.4	+	6	1453	c.1193C>T	c.(1192-1194)tCc>tTc	p.S398F	CHGA_uc001ybd.4_Missense_Mutation_p.S247F	NM_001275	NP_001266	P10645	CMGA_HUMAN	Homo sapiens chromogranin A (parathyroid secretory protein 1) (CHGA), mRNA.	398					regulation of blood pressure	extracellular region|stored secretory granule				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		AGGCCATCCTCCCGGGAGGAC	0.682000														17			11		0	0	0.001368	0	0
OR4K2	390431	broad.mit.edu	37	14	20344870	20344870	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:20344870C>T	uc001vwh.1	+	0	444	c.444C>T	c.(442-444)tcC>tcT	p.S148S		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGGTGGCTTCCTGGATTATGG	0.468000														75			59		0	0	0.003610	0	0
ITPR3	3710	broad.mit.edu	37	6	33639824	33639824	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:33639824C>T	uc021ywr.1	+	21	2971	c.2747C>T	c.(2746-2748)tCc>tTc	p.S916F		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	916					G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GTGCGGCGGTCCATCCAGGGC	0.632000														26			17		0	0	0.007413	0	0
BSDC1	55108	broad.mit.edu	37	1	32843855	32843855	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:32843855G>A	uc001bvi.3	-	6	656	c.609C>T	c.(607-609)ttC>ttT	p.F203F	BSDC1_uc001bvh.4_Silent_p.F186F|BSDC1_uc010ohg.2_Silent_p.F203F|BSDC1_uc010ohh.2_Silent_p.F130F|BSDC1_uc010ohi.2_Silent_p.F91F|BSDC1_uc001bvg.4_Non-coding_Transcript|BSDC1_uc001bvj.3_Silent_p.F82F			Q9NW68	BSDC1_HUMAN	Homo sapiens BSD domain containing 1 (BSDC1), transcript variant 1, mRNA.	186							protein binding			breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				ACCGATGCCAGAATTCTGAAT	0.517000														40			8		0	0	0.006214	0	0
CHRNA9	55584	broad.mit.edu	37	4	40351246	40351246	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:40351246C>T	uc003gva.1	+	3	729	c.713C>T	c.(712-714)tCg>tTg	p.S238L		NM_017581	NP_060051	Q9UGM1	ACHA9_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 9 (CHRNA9), mRNA.	238					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	AGGAGGTCCTCGTTCTATATC	0.527000														91			173		0	0	0.003610	0	0
CDC25C	995	broad.mit.edu	37	5	137621721	137621722	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:137621721_137621722GG>AA	uc003lcs.1	-	12	1695_1696	c.1495_1496CC>TT	c.(1495-1497)cca>TTa	p.P499L	CDC25C_uc003lcp.1_Missense_Mutation_p.P421L|CDC25C_uc003lcq.1_Missense_Mutation_p.P348L|CDC25C_uc003lcr.1_Missense_Mutation_p.P421L|CDC25C_uc011cyp.1_Missense_Mutation_p.P438L	NM_001790	NP_001781	P30307	MPIP3_HUMAN	Homo sapiens cell division cycle 25 homolog C (S. pombe) (CDC25C), transcript variant 1, mRNA.	421					DNA replication|G2/M transition of mitotic cell cycle|cell cycle checkpoint|cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	WW domain binding|protein tyrosine phosphatase activity	p.P421L(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CATATATTCTGGAAAGAAGTCT	0.505000														49			38		0	0	0.004672	0	0
STAMBP	10617	broad.mit.edu	37	2	74077595	74077595	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:74077595C>T	uc002sju.3	+	7	1162	c.960C>T	c.(958-960)ttC>ttT	p.F320F	STAMBP_uc002sjs.3_Silent_p.F320F|STAMBP_uc002sjv.3_Silent_p.F320F	NM_006463	NP_998787	O95630	STABP_HUMAN	Homo sapiens STAM binding protein (STAMBP), transcript variant 1, mRNA.	320	MPN.				JAK-STAT cascade|positive regulation of cell proliferation	early endosome|membrane|nucleus	metal ion binding|metallopeptidase activity|protein binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	18						AAGAACTTTTCCTCATACAGG	0.468000														38			30		0	0	0.002445	0	0
NHP2L1	4809	broad.mit.edu	37	22	42071061	42071061	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:42071061G>A	uc003bav.3	-	2	376	c.263C>T	c.(262-264)gCc>gTc	p.A88V	NHP2L1_uc003bat.3_Missense_Mutation_p.A88V	NM_001003796	NP_004999	P55769	NH2L1_HUMAN	Homo sapiens NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae) (NHP2L1), transcript variant 2, mRNA.	88					nuclear mRNA splicing, via spliceosome|ribosome biogenesis	box C/D snoRNP complex|nucleoplasm|spliceosomal complex	RNA binding|protein binding			endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						TCTCCCCAGGGCCTGCTTGGA	0.577000														42			30		0	0	0.003271	0	0
PER3	8863	broad.mit.edu	37	1	7863776	7863776	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:7863776C>T	uc001aop.3	+	8	1228	c.1004C>T	c.(1003-1005)cCc>cTc	p.P335L	PER3_uc009vmg.1_Missense_Mutation_p.P335L|PER3_uc009vmh.1_Missense_Mutation_p.P335L|PER3_uc001aoo.3_Missense_Mutation_p.P334L|PER3_uc010nzw.2_Missense_Mutation_p.P16L|PER3_uc001aon.3_Missense_Mutation_p.P334L	NM_016831	NP_058515	P56645	PER3_HUMAN	Homo sapiens period homolog 3 (Drosophila) (PER3), mRNA.	334					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCATCCTCCCTTTGAACAT	0.368000														12			18		0	0	0.007413	0	0
SNX29	92017	broad.mit.edu	37	16	12618696	12618696	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:12618696C>T	uc002dby.4	+	19	2378	c.1161C>T	c.(1159-1161)ttC>ttT	p.F387F		NM_032167	NP_115543	Q8TEQ0	SNX29_HUMAN	Homo sapiens sorting nexin 29 (SNX29), mRNA.	387	PX.				cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						TGCCCTTCTTCGTGTAAGTAC	0.572000														56			46		0	0	0.003610	0	0
CCNB3	85417	broad.mit.edu	37	X	50085299	50085299	+	Silent	SNP	C	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:50085299C>A	uc004dox.4	+	8	3913	c.3615C>A	c.(3613-3615)ctC>ctA	p.L1205L	CCNB3_uc004doy.3_Silent_p.L1205L|CCNB3_uc004doz.3_Silent_p.L101L|CCNB3_uc010njq.3_Silent_p.L97L|CCNB3_uc004dpa.3_Silent_p.L44L	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA.	1205					cell division|meiosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AGTTACAACTCCTTGGTGCCA	0.463000														3			39		4.67007e-22	6.54582e-22	0.001951	1	0
PRB2	653247	broad.mit.edu	37	12	11546330	11546330	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:11546330C>T	uc010shk.1	-	2	717	c.682G>A	c.(682-684)Gga>Aga	p.G228R		NM_006248	NP_006239			Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTGTTGTCTCCTTGTGGGGGT	0.617000														104			58		0	0	0.003610	0	0
ARHGAP27	201176	broad.mit.edu	37	17	43481655	43481655	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:43481655G>T	uc002iix.3	-	5	885	c.436C>A	c.(436-438)Cct>Act	p.P146T	ARHGAP27_uc010dak.3_Missense_Mutation_p.P119T|ARHGAP27_uc010wjl.1_Intron	NM_199282	NP_954976	Q6ZUM4	RHG27_HUMAN	Homo sapiens Rho GTPase activating protein 27 (ARHGAP27), transcript variant 1, mRNA.	487					positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					GCTGTGGCAGGAGAGACTTCC	0.612000														35			21		1.85244e-09	2.57335e-09	0.003330	1	0
AOX1	316	broad.mit.edu	37	2	201485964	201485964	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:201485964G>A	uc002uvx.3	+	17	2097	c.1996G>A	c.(1996-1998)Gat>Aat	p.D666N	AOX1_uc010zhf.2_Missense_Mutation_p.D222N|AOX1_uc010fsu.3_Missense_Mutation_p.D32N	NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	666					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TCTGGCGACAGATAAGGTACT	0.398000														42			16		0	0	0.001523	0	0
SEMA4D	10507	broad.mit.edu	37	9	91994478	91994478	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:91994478G>A	uc004aqo.1	-	17	2302	c.1730C>T	c.(1729-1731)tCc>tTc	p.S577F	SEMA4D_uc011ltm.1_Intron|SEMA4D_uc011ltn.1_Intron|SEMA4D_uc011lto.1_Intron|SEMA4D_uc004aqp.1_Missense_Mutation_p.S577F	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D (SEMA4D), transcript variant 1, mRNA.	577	Ig-like C2-type.				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						GGATTTTTGGGAGCATTTCAG	0.483000														104			24		0	0	0.004656	0	0
RASSF3	283349	broad.mit.edu	37	12	65088621	65088621	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:65088621C>T	uc001ssd.3	+	4	766	c.646C>T	c.(646-648)Ctg>Ttg	p.L216L	RASSF3_uc009zqn.3_Non-coding_Transcript|RASSF3_uc001sse.3_Silent_p.L146L	NM_178169	NP_835463	Q86WH2	RASF3_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 3 (RASSF3), transcript variant 1, mRNA.	216	SARAH.				signal transduction	cytoplasm|microtubule	identical protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(2;0.00133)|LUAD - Lung adenocarcinoma(6;0.0665)|LUSC - Lung squamous cell carcinoma(43;0.132)	GBM - Glioblastoma multiforme(28;0.0611)		GCTGCAGAACCTGAAGAGGCG	0.542000														33			8		0	0	0.000673	0	0
ZNF737	100129842	broad.mit.edu	37	19	20736519	20736519	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:20736519G>A	uc002npa.3	-	1	306	c.126C>T	c.(124-126)ttC>ttT	p.F42F		NM_001159293	NP_001152765	C9JHM3	C9JHM3_HUMAN	Homo sapiens zinc finger protein 737 (ZNF737), mRNA.	42					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						TCTCACCAAGGAAGACCAGGT	0.333000														38			23		0	0	0.006320	0	0
GAD2	2572	broad.mit.edu	37	10	26562596	26562596	+	Missense_Mutation	SNP	G	A	A	rs8190730	byFrequency	TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:26562596G>A	uc001isp.2	+	10	1627	c.1124G>A	c.(1123-1125)cGa>cAa	p.R375Q	GAD2_uc001isq.2_Missense_Mutation_p.R375Q	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN	Homo sapiens glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) (GAD2), transcript variant 2, mRNA.	375			R -> Q (in dbSNP:rs8190730).		glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	Golgi membrane|cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	p.R375*(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	CTGATGTCCCGAAAACACAAG	0.388000														31			16		0	0	0.004990	0	0
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5664061	5664061	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:5664061C>T	uc001mbh.3	+	6	1046	c.889C>T	c.(889-891)Cgg>Tgg	p.R297W	HBG1_uc001mak.1_Intron|TRIM6-TRIM34_uc001mbf.3_Missense_Mutation_p.R651W|TRIM6-TRIM34_uc001mbi.3_Missense_Mutation_p.R297W|TRIM6-TRIM34_uc009yer.3_5'Flank	NM_001003827	NP_067629	B2RNG4	B2RNG4_HUMAN	Homo sapiens tripartite motif containing 34 (TRIM34), transcript variant 4, mRNA.	651						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		GACAGCTGTCCGGTGCTACTG	0.358000														19			5		0	0	0.001984	0	0
KLKB1	3818	broad.mit.edu	37	4	187172668	187172668	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:187172668G>A	uc003iyy.3	+	8	967	c.896G>A	c.(895-897)gGa>gAa	p.G299E	KLKB1_uc011clc.2_Missense_Mutation_p.G97E|KLKB1_uc011cld.2_Missense_Mutation_p.G261E	NM_000892	NP_000883	P03952	KLKB1_HUMAN	Homo sapiens kallikrein B, plasma (Fletcher factor) 1 (KLKB1), mRNA.	299	Apple 4.				Factor XII activation|blood coagulation, intrinsic pathway|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		ATTTACCCGGGAGTTGACTTT	0.368000														87			40		0	0	0.003214	0	0
CRYGN	155051	broad.mit.edu	37	7	151135226	151135226	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:151135226G>A	uc003wke.3	-	1	222	c.126C>T	c.(124-126)atC>atT	p.I42I	CRYGN_uc003wkf.3_Silent_p.I42I|CRYGN_uc003wkg.3_Non-coding_Transcript|CRYGN_uc010lqd.1_5'Flank	NM_144727	NP_653328	Q8WXF5	CRGN_HUMAN	Homo sapiens crystallin, gamma N (CRYGN), mRNA.	42	Beta/gamma crystallin 'Greek key' 1.									central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(1)|lung(4)	8			OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCTCCACGTGGATGGAGTTCA	0.587000														22			13		0	0	0.002450	0	0
SLC2A7	155184	broad.mit.edu	37	1	9074901	9074901	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:9074901C>T	uc009vmo.1	-	6	742	c.742G>A	c.(742-744)Gac>Aac	p.D248N		NM_207420	NP_997303	Q6PXP3	GTR7_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 7 (SLC2A7), mRNA.	248						integral to membrane|plasma membrane	sugar transmembrane transporter activity			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GCCTCCATGTCCGTGTGGCCT	0.711000														1			10		0	0	0.000978	0	0
MTMR3	8897	broad.mit.edu	37	22	30416035	30416035	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:30416035T>C	uc003agv.4	+	16	2715	c.2387T>C	c.(2386-2388)tTt>tCt	p.F796S	MTMR3_uc003agu.4_Missense_Mutation_p.F796S|MTMR3_uc003agw.4_Missense_Mutation_p.F796S	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	Homo sapiens myotubularin related protein 3 (MTMR3), transcript variant 3, mRNA.	796					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			GTGGAGCAGTTTCGAATAGAA	0.527000														42			35		0	0	0.002445	0	0
GABRG1	2565	broad.mit.edu	37	4	46060577	46060577	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:46060577G>A	uc003gxb.3	-	5	840	c.688C>T	c.(688-690)Cct>Tct	p.P230S		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	230					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		CAGTATTTAGGATCAGCCACT	0.348000														7			6		0	0	0.001168	0	0
NALCN	259232	broad.mit.edu	37	13	101759918	101759918	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:101759918G>A	uc001vox.1	-	21	2688	c.2499C>T	c.(2497-2499)ttC>ttT	p.F833F		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	833						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GTGGCTTATCGAAGTATGGGT	0.478000														33			21		0	0	0.002299	0	0
SH3RF2	153769	broad.mit.edu	37	5	145428695	145428696	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:145428695_145428696GG>AA	uc003lnt.3	+	6	1447_1448	c.1209_1210GG>AA	c.(1207-1212)aaggga>aaAAga	p.G404R	SH3RF2_uc011dbl.1_Missense_Mutation_p.G404R|SH3RF2_uc011dbm.1_5'Flank|SH3RF2_uc003lnu.3_5'Flank	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	404	SH3 3.						ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCTGCAAAAGGGAGAAGGCGT	0.594000											OREG0016895	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		25			18		0	0	0.004672	0	0
CPXCR1	53336	broad.mit.edu	37	X	88008632	88008632	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:88008632G>A	uc022bzq.1	+	0	217	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	CPXCR1_uc004efd.4_Missense_Mutation_p.E73K|CPXCR1_uc004efc.4_Missense_Mutation_p.E73K	NM_033048	NP_149037	Q8N123	CPXCR_HUMAN	Homo sapiens CPX chromosome region, candidate 1 (CPXCR1), transcript variant 1, mRNA.	73						intracellular	zinc ion binding			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						CAGCGAGCTCGAAACAGAGAT	0.453000														0			17		0	0	0.004990	0	0
TNR	7143	broad.mit.edu	37	1	175335095	175335095	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:175335095C>T	uc001gkp.1	-	8	2314	c.2233G>A	c.(2233-2235)Gag>Aag	p.E745K	TNR_uc009wwu.1_Missense_Mutation_p.E745K	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	745	Fibronectin type-III 5.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				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)					GCCCCAGGCTCTAGATCTGTT	0.537000														14			52		0	0	0.003610	0	0
RALGDS	5900	broad.mit.edu	37	9	135982602	135982602	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:135982602G>A	uc004cco.3	-	6	1303	c.1283C>T	c.(1282-1284)cCc>cTc	p.P428L	RALGDS_uc004ccp.3_Non-coding_Transcript|RALGDS_uc004ccq.3_Missense_Mutation_p.P416L|RALGDS_uc004ccr.3_Missense_Mutation_p.P427L|RALGDS_uc011mcv.2_Missense_Mutation_p.P399L|RALGDS_uc004ccs.3_Missense_Mutation_p.P373L|RALGDS_uc011mcw.2_Missense_Mutation_p.P499L|RALGDS_uc004ccv.1_Missense_Mutation_p.P197L|RALGDS_uc004ccu.1_Missense_Mutation_p.P197L	NM_006266	NP_006257	Q12967	GNDS_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator (RALGDS), transcript variant 1, mRNA.	428	Ras-GEF.				Ras protein signal transduction|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		GCGGATGGTGGGCGCCAGGTG	0.627000			T	CIITA	"""PMBL, Hodgkin Lymphona, """									21			6		0	0	0.001984	0	0
ENGASE	64772	broad.mit.edu	37	17	77082235	77082235	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:77082235C>T	uc002jwv.3	+	13	2044	c.2036C>T	c.(2035-2037)cCg>cTg	p.P679L	ENGASE_uc002jww.3_Missense_Mutation_p.P384L	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN	Homo sapiens endo-beta-N-acetylglucosaminidase (ENGASE), mRNA.	679						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						AGGGAGCTGCCGAGGCCAGAG	0.637000														20			26		0	0	0.003954	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580900	140580900	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:140580900C>T	uc003liy.3	+	0	1553	c.1553C>T	c.(1552-1554)tCg>tTg	p.S518L		NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	Homo sapiens protocadherin beta 11 (PCDHB11), mRNA.	518	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCCTCAGGTCGCTGGACTAC	0.677000														53			51		0	0	0.003610	0	0
IDH2	3418	broad.mit.edu	37	15	90631943	90631943	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:90631943C>T	uc002box.3	-	3	496	c.410G>A	c.(409-411)gGa>gAa	p.G137E	IDH2_uc010uqb.2_Missense_Mutation_p.G85E|IDH2_uc010uqc.2_Missense_Mutation_p.G7E	NM_002168	NP_002159	P48735	IDHP_HUMAN	Homo sapiens isocitrate dehydrogenase 2 (NADP+), mitochondrial (IDH2), nuclear gene encoding mitochondrial protein, mRNA.	137	Substrate binding (By similarity).				2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding			biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			CCGGATAGTTCCATTGGGACT	0.522000			M		GBM									1			49		0	0	0.003610	0	0
OR51B4	79339	broad.mit.edu	37	11	5322328	5322328	+	Silent	SNP	G	A	A	rs142375265		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:5322328G>A	uc010qza.2	-	0	849	c.849C>T	c.(847-849)ttC>ttT	p.F283F	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033179	NP_149419	Q9Y5P0	O51B4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 4 (OR51B4), mRNA.	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F283L(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAGGATTCACGAATGGAGGAA	0.428000														17			14		0	0	0.001855	0	0
CD163	9332	broad.mit.edu	37	12	7635318	7635318	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:7635318G>A	uc001qsz.3	-	13	3296	c.3168C>T	c.(3166-3168)atC>atT	p.I1056I	CD163_uc001qta.3_Silent_p.I1056I|CD163_uc009zfw.2_Silent_p.I1089I	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	1056					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CAACCCCAAGGATCCCGACTG	0.423000														26			38		0	0	0.004878	0	0
FAM194A	131831	broad.mit.edu	37	3	150391770	150391770	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:150391770G>A	uc003eyg.3	-	10	1373	c.1316C>T	c.(1315-1317)tCa>tTa	p.S439L	FAM194A_uc003eyh.3_Missense_Mutation_p.S293L	NM_152394	NP_689607	Q7L0X2	F194A_HUMAN	Homo sapiens family with sequence similarity 194, member A (FAM194A), mRNA.	439										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						ATCTGGAAATGAAGTCAGAAA	0.348000														36			10		0	0	0.001368	0	0
PTCHD2	57540	broad.mit.edu	37	1	11596384	11596384	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:11596384G>A	uc001ash.4	+	20	3958	c.3820G>A	c.(3820-3822)Gcc>Acc	p.A1274T		NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	1274					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CCCCCAGGACGCCCGAACGCA	0.711000														7			13		0	0	0.004007	0	0
C10orf81	79949	broad.mit.edu	37	10	115526199	115526199	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:115526199G>A	uc001lat.2	+	1	602	c.40G>A	c.(40-42)Gaa>Aaa	p.E14K	C10orf81_uc009xyc.2_5'UTR|C10orf81_uc001lar.2_Missense_Mutation_p.E20K|C10orf81_uc001las.2_Intron	NM_182601	NP_872407	Q5SXH7	CJ081_HUMAN	Homo sapiens chromosome 10 open reading frame 81 (C10orf81), transcript variant 1, mRNA.	14	PH.									central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)	15		Colorectal(252;0.175)		Epithelial(162;0.0181)|all cancers(201;0.0204)		TTATGAAAATGAAGTCTGCAA	0.358000														34			21		0	0	0.002780	0	0
TOR1AIP2	163590	broad.mit.edu	37	1	179815644	179815644	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:179815644G>A	uc001gnl.3	-	6	1789	c.975C>T	c.(973-975)gtC>gtT	p.V325V	TOR1AIP2_uc001gnk.3_Silent_p.V325V	NM_001199260	NP_001186189	Q8NFQ8	TOIP2_HUMAN	Homo sapiens torsin A interacting protein 2 (TOR1AIP2), transcript variant 3, mRNA.	325						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						GAATGGGAGAGACTTTCTGGG	0.547000														20			62		0	0	0.003610	0	0
VARS2	57176	broad.mit.edu	37	6	30892178	30892178	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:30892178C>T	uc011dmz.2	+	25	2685	c.2604C>T	c.(2602-2604)ccC>ccT	p.P868P	VARS2_uc003nsc.2_Silent_p.P838P|VARS2_uc011dmx.2_Silent_p.P838P|VARS2_uc011dmy.2_Silent_p.P698P|VARS2_uc011dna.2_Silent_p.P836P|VARS2_uc011dnb.2_Non-coding_Transcript|VARS2_uc011dnc.2_Non-coding_Transcript|VARS2_uc011dnd.2_Silent_p.P276P|VARS2_uc010jsg.2_Silent_p.P210P|VARS2_uc010jsh.2_5'UTR	NM_001167734	NP_001161205	Q5ST30	SYVM_HUMAN	Homo sapiens valyl-tRNA synthetase 2, mitochondrial (putative) (VARS2), transcript variant 1, mRNA.	838					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						CCCTGGGGCCCCCTCAGGTCC	0.697000														16			27		0	0	0.001786	0	0
TCRA	0	broad.mit.edu	37	14	22362919	22362919	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:22362919G>A	uc021rpj.1	+	1	221	c.50G>A	c.(49-51)gGa>gAa	p.G17E	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron					RecName: Full=T-cell receptor alpha chain V region PY14; Flags: Precursor;																		GTTGCAGGAGGAACCAGAGCC	0.483000											OREG0022572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		14			22		0	0	0.002780	0	0
PLA2G1B	5319	broad.mit.edu	37	12	120760022	120760022	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:120760022C>T	uc001tyd.3	-	3	457	c.421G>A	c.(421-423)Gac>Aac	p.D141N	PLA2G1B_uc009zwx.3_3'UTR	NM_000928	NP_000919	P04054	PA21B_HUMAN	Homo sapiens phospholipase A2, group IB (pancreas) (PLA2G1B), mRNA.	141					actin filament organization|activation of MAPK activity|activation of phospholipase A2 activity|arachidonic acid secretion|cellular response to insulin stimulus|glucose transport|interleukin-8 production|leukotriene biosynthetic process|multicellular organismal lipid catabolic process|neutrophil chemotaxis|neutrophil mediated immunity|phosphatidylcholine metabolic process|positive regulation of DNA replication|positive regulation of NF-kappaB transcription factor activity|positive regulation of calcium ion transport into cytosol|positive regulation of immune response|positive regulation of protein secretion|positive regulation of transcription from RNA polymerase II promoter	extracellular space	bile acid binding|calcium ion binding|calcium-dependent phospholipase A2 activity|cell surface binding|receptor binding			endometrium(1)|large_intestine(1)|lung(3)|skin(2)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCTTGGTGTCCAGGTTCTTG	0.443000														112			34		0	0	0.004878	0	0
ZNF425	155054	broad.mit.edu	37	7	148802302	148802302	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:148802302G>A	uc003wfj.3	-	3	794	c.661C>T	c.(661-663)Cca>Tca	p.P221S		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	Homo sapiens zinc finger protein 425 (ZNF425), mRNA.	221					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TTGTACTTTGGGTATCTGCAG	0.507000														35			21		0	0	0.002299	0	0
GCN1L1	10985	broad.mit.edu	37	12	120580353	120580353	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:120580353G>A	uc001txo.3	-	43	5800	c.5787C>T	c.(5785-5787)ctC>ctT	p.L1929L		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	1929					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AACCCAGCAGGAGCCCAAAGA	0.587000														25			26		0	0	0.002836	0	0
abParts	0	broad.mit.edu	37	14	106774297	106774297	+	RNA	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:106774297G>A	uc021ser.1	-	682		c.18548C>T								Parts of antibodies, mostly variable regions.																		AGCCTTGCAGGAAACCTTCAA	0.542000														13			6		0	0	0.001168	0	0
SCN5A	6331	broad.mit.edu	37	3	38622668	38622668	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:38622668G>A	uc021wvo.1	-	15	3034	c.2982C>T	c.(2980-2982)gcC>gcT	p.A994A	SCN5A_uc021wvk.1_Silent_p.A994A|SCN5A_uc021wvl.1_Silent_p.A994A|SCN5A_uc021wvm.1_Silent_p.A994A|SCN5A_uc021wvn.1_Silent_p.A994A|SCN5A_uc021wvp.1_Silent_p.A994A|SCN5A_uc021wvq.1_Silent_p.A994A|SCN5A_uc021wvr.1_Silent_p.A994A|SCN5A_uc021wvs.1_Silent_p.A994A|SCN5A_uc021wvt.1_Silent_p.A994A|SCN5A_uc021wvu.1_Silent_p.A994A|SCN5A_uc021wvv.1_Silent_p.A994A|SCN5A_uc021wvj.1_Silent_p.A860A|SCN5A_uc021wvi.1_Silent_p.A860A|SCN5A_uc021wvw.1_Silent_p.A605A	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	994					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	p.A994S(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GGGCGGCAAGGGCTGCGGGCT	0.687000														6			10		0	0	0.000673	0	0
MYO18B	84700	broad.mit.edu	37	22	26228957	26228957	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:26228957C>T	uc003abz.1	+	15	3303	c.3053C>T	c.(3052-3054)cCc>cTc	p.P1018L	MYO18B_uc003aca.1_Missense_Mutation_p.P899L|MYO18B_uc010guy.1_Missense_Mutation_p.P899L|MYO18B_uc010guz.1_Missense_Mutation_p.P899L|MYO18B_uc011aka.1_Missense_Mutation_p.P172L|MYO18B_uc011akb.1_Missense_Mutation_p.P531L	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1018	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GATCAAAATCCCTCTCAGGTA	0.498000														35			30		0	0	0.002836	0	0
RTN4RL2	349667	broad.mit.edu	37	11	57244101	57244101	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:57244101C>T	uc010rjt.2	+	2	980	c.980C>T	c.(979-981)tCc>tTc	p.S327F		NM_178570	NP_848665	Q86UN3	R4RL2_HUMAN	Homo sapiens reticulon 4 receptor-like 2 (RTN4RL2), mRNA.	327					axon regeneration	anchored to plasma membrane	receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						ggcAACAGCTCCTCCAACCAC	0.771000														6			4		0	0	0.000248	0	0
DCC	1630	broad.mit.edu	37	18	50589699	50589699	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:50589699C>T	uc002lfe.2	+	5	1626	c.1010C>T	c.(1009-1011)cCt>cTt	p.P337L	DCC_uc010xdr.1_Missense_Mutation_p.P185L|DCC_uc010dpf.2_5'UTR	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	337	Ig-like C2-type 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TTAAATCATCCTTCCAACCTG	0.438000														26			26		0	0	0.004656	0	0
C8B	732	broad.mit.edu	37	1	57422539	57422539	+	Silent	SNP	T	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:57422539T>C	uc001cyp.3	-	2	361	c.294A>G	c.(292-294)gaA>gaG	p.E98E	C8B_uc010oon.2_Silent_p.E36E|C8B_uc010ooo.2_Silent_p.E46E	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	98	TSP type-1 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		p.G97W(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						AGTTGCACGGTTCCCCATGGA	0.517000														22			62		0	0	0.003610	0	0
ANKRD35	148741	broad.mit.edu	37	1	145561347	145561347	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:145561347G>A	uc001eob.1	+	9	1143	c.1035G>A	c.(1033-1035)ggG>ggA	p.G345G	ANKRD35_uc010oyx.1_Silent_p.G188G	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA.	345										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGGAGCTAGGGGTCCTCCTAT	0.577000														10			5		0	0	0.001984	0	0
TMEM200C	645369	broad.mit.edu	37	18	5891650	5891650	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:5891650C>T	uc002kmx.1	-	0	454	c.413G>A	c.(412-414)cGa>cAa	p.R138Q		NM_001080209	NP_001073678	A6NKL6	T200C_HUMAN	Homo sapiens transmembrane protein 200C (TMEM200C), mRNA.	138						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						GGAGGCGGCTCGTGCTGGAGG	0.652000														34			25		0	0	0.002445	0	0
FREM2	341640	broad.mit.edu	37	13	39338470	39338470	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:39338470C>T	uc001uwv.3	+	2	5602	c.5293C>T	c.(5293-5295)Cgt>Tgt	p.R1765C		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	1765	Calx-beta 1.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.R1765C(2)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CCAGAATTTTCGTCTGAATTG	0.348000														27			32		0	0	0.002836	0	0
ANTXR1	84168	broad.mit.edu	37	2	69329998	69329998	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:69329998G>C	uc002sfg.3	+	9	1084	c.728G>C	c.(727-729)gGa>gCa	p.G243A	ANTXR1_uc002sfe.3_Missense_Mutation_p.G243A|ANTXR1_uc002sff.3_Missense_Mutation_p.G243A|ANTXR1_uc002sfd.2_Missense_Mutation_p.G243A|MIR3126_uc021viv.1_5'Flank	NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN	Homo sapiens anthrax toxin receptor 1 (ANTXR1), transcript variant 1, mRNA.	243					actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						GTCGTGAGAGGAAACGGCTTC	0.478000									Familial Infantile Hemangioma					185			27		0	0	0.001512	0	0
HSPA4L	22824	broad.mit.edu	37	4	128744729	128744730	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:128744729_128744730GG>AA	uc003ifm.3	+	15	2249_2250	c.1996_1997GG>AA	c.(1996-1998)gga>AAa	p.G666K	HSPA4L_uc011cgr.2_Missense_Mutation_p.G633K	NM_014278	NP_055093	O95757	HS74L_HUMAN	Homo sapiens heat shock 70kDa protein 4-like (HSPA4L), mRNA.	666					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						TTATGAAGACGGAGAGGACCAA	0.317000														28			15		0	0	0.004672	0	0
UNC13A	23025	broad.mit.edu	37	19	17743624	17743624	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:17743624G>A	uc021uqk.1	-	27	3434	c.3392C>T	c.(3391-3393)cCc>cTc	p.P1131L		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	1132	MHD1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CTTGAAGGCGGGAAGTTCCGT	0.552000														47			43		0	0	0.003610	0	0
CCDC47	57003	broad.mit.edu	37	17	61833897	61833897	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:61833897C>T	uc002jbs.4	-	6	1105	c.769G>A	c.(769-771)Gat>Aat	p.D257N	CCDC47_uc010ddx.3_Missense_Mutation_p.D257N|CCDC47_uc002jbt.2_Missense_Mutation_p.D257N	NM_020198	NP_064583	Q96A33	CCD47_HUMAN	Homo sapiens coiled-coil domain containing 47 (CCDC47), mRNA.	257						integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						ACGTAGGTATCCATGTCTTCA	0.368000														25			20		0	0	0.001523	0	0
SIDT1	54847	broad.mit.edu	37	3	113286460	113286460	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:113286460C>T	uc021xcn.1	+	2	1069	c.418C>T	c.(418-420)Ccc>Tcc	p.P140S	SIDT1_uc011bif.1_Non-coding_Transcript|SIDT1_uc003eak.3_Missense_Mutation_p.P140S|SIDT1_uc011big.2_5'UTR	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN	Homo sapiens SID1 transmembrane family, member 1 (SIDT1), mRNA.	140						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						TGAGACGGGACCCTTGCAGCA	0.493000														83			25		0	0	0.001786	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125405377	125405377	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:125405377T>A	uc010flu.3	+	12	2283	c.1919T>A	c.(1918-1920)cTg>cAg	p.L640Q	CNTNAP5_uc002tno.3_Missense_Mutation_p.L639Q	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	639	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AATACAGAGCTGACCCGAGTG	0.552000														8			5		0	0	0.001168	0	0
MCU	90550	broad.mit.edu	37	10	74631160	74631160	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:74631160C>T	uc001jtc.3	+	5	704	c.683C>T	c.(682-684)gCt>gTt	p.A228V	MCU_uc009xqp.1_Non-coding_Transcript|MCU_uc009xqq.1_Non-coding_Transcript|MCU_uc010qjy.1_Non-coding_Transcript|MCU_uc009xqr.3_Missense_Mutation_p.A207V|MCU_uc001jtd.3_Missense_Mutation_p.A179V	NM_138357	NP_612366	Q8NE86	MCU_HUMAN	Homo sapiens mitochondrial calcium uniporter (MCU), nuclear gene encoding mitochondrial protein, mRNA.	228					elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						AGCAGAAAAGCTGAGAAGAGG	0.448000														115			88		0	0	0.003610	0	0
LIFR	3977	broad.mit.edu	37	5	38482741	38482741	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:38482741G>A	uc010ive.1	-	18	2952	c.2620C>T	c.(2620-2622)Cca>Tca	p.P874S	LIFR_uc003jli.2_Missense_Mutation_p.P874S	NM_001127671	NP_002301	P42702	LIFR_HUMAN	Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA.	874					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TCTGGATTTGGAATATCAGGG	0.234000			T	PLAG1	salivary adenoma									50			38		0	0	0.003610	0	0
KRTAP21-1	337977	broad.mit.edu	37	21	32127610	32127610	+	Silent	SNP	G	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr21:32127610G>C	uc011adi.2	-	0	87	c.87C>G	c.(85-87)ggC>ggG	p.G29G		NM_181619	NP_853650	Q3LI58	KR211_HUMAN	Homo sapiens keratin associated protein 21-1 (KRTAP21-1), mRNA.	29						intermediate filament				breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7						cagttccatagccacagccac	0.557000														40			46		0	0	0.003214	0	0
ZMYND15	84225	broad.mit.edu	37	17	4648003	4648003	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:4648003G>A	uc002fyu.2	+	9	1797	c.1767G>A	c.(1765-1767)agG>agA	p.R589R	ZMYND15_uc002fyv.2_Silent_p.R589R|ZMYND15_uc002fyt.2_Silent_p.R550R	NM_001136046	NP_001129518	Q9H091	ZMY15_HUMAN	Homo sapiens zinc finger, MYND-type containing 15 (ZMYND15), transcript variant 1, mRNA.	550							zinc ion binding			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						GGGGCCGCAGGGACCTGCAGA	0.622000														25			5		0	0	0.001168	0	0
TNC	3371	broad.mit.edu	37	9	117853079	117853079	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:117853079C>T	uc004bjj.4	-	1	631	c.219G>A	c.(217-219)ggG>ggA	p.G73G	TNC_uc010mvf.3_Silent_p.G73G|TNC_uc022bmj.1_Silent_p.G73G	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	73					cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GGTCTTTCTCCCCACTGGCTG	0.542000														29			54		0	0	0.003610	0	0
NLRP14	338323	broad.mit.edu	37	11	7059831	7059831	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:7059831C>T	uc001mfb.1	+	1	337	c.14C>T	c.(13-15)tCa>tTa	p.S5L		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	5	DAPIN.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GCAGATTCATCATCATCTTCT	0.368000														53			22		0	0	0.006320	0	0
TC2N	123036	broad.mit.edu	37	14	92264694	92264694	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:92264694C>T	uc001xzu.4	-	6	878	c.687G>A	c.(685-687)gtG>gtA	p.V229V	TC2N_uc001xzt.4_Silent_p.V229V|TC2N_uc010auc.3_Silent_p.V229V|TC2N_uc001xzv.4_Silent_p.V229V	NM_001128595	NP_689545	Q8N9U0	TAC2N_HUMAN	Homo sapiens tandem C2 domains, nuclear (TC2N), transcript variant 2, mRNA.	229						nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		AAAACAATTTCACATTCAGTC	0.303000														26			18		0	0	0.002299	0	0
ASAP3	55616	broad.mit.edu	37	1	23758321	23758321	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:23758321G>A	uc001bha.2	-	22	2538	c.2414C>T	c.(2413-2415)cCc>cTc	p.P805L	ASAP3_uc001bgy.1_Missense_Mutation_p.P309L|ASAP3_uc010odz.1_Missense_Mutation_p.P695L|ASAP3_uc010oea.1_Missense_Mutation_p.P796L	NM_017707	NP_060177	Q8TDY4	ASAP3_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 (ASAP3), transcript variant 1, mRNA.	805					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						AGGTTCCAAGGGGCTCATCAG	0.637000														80			25		0	0	0.005443	0	0
IFIT1	3434	broad.mit.edu	37	10	91162363	91162363	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:91162363C>T	uc001kgi.3	+	1	479	c.331C>T	c.(331-333)Ctg>Ttg	p.L111L	LIPA_uc001kgb.4_Intron|LIPA_uc001kgc.4_Intron|IFIT1_uc009xtt.3_Silent_p.L111L|IFIT1_uc001kgj.3_Silent_p.L80L	NM_001548	NP_001539	P09914	IFIT1_HUMAN	Homo sapiens interferon-induced protein with tetratricopeptide repeats 1 (IFIT1), transcript variant 2, mRNA.	111					cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						CATGGGCAGACTGGCAGAAGC	0.468000														18			19		0	0	0.007413	0	0
ATAD3B	83858	broad.mit.edu	37	1	1431175	1431175	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:1431175C>T	uc001afv.3	+	15	2026	c.1925C>T	c.(1924-1926)cCc>cTc	p.P642L	ATAD3B_uc021oeq.1_Intron|ATAD3B_uc001afx.3_Missense_Mutation_p.P596L	NM_031921	NP_114127	Q5T9A4	ATD3B_HUMAN	Homo sapiens ATPase family, AAA domain containing 3B (ATAD3B), nuclear gene encoding mitochondrial protein, mRNA.	642							ATP binding|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CCGTTCTGCCCCCCAGGGCAC	0.642000														3			18		0	0	0.006122	0	0
MLL2	8085	broad.mit.edu	37	12	49422929	49422929	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:49422929G>A	uc001rta.4	-	43	14166	c.14166C>T	c.(14164-14166)ttC>ttT	p.F4722F		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	4722					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CCAGATGAGGGAAACGAGGGG	0.612000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				6			4		0	0	0.000248	0	0
CDH9	1007	broad.mit.edu	37	5	26881371	26881371	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:26881371A>T	uc003jgs.1	-	11	2413	c.2244T>A	c.(2242-2244)gaT>gaA	p.D748E	CDH9_uc011cnv.1_Missense_Mutation_p.D341E	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	748					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						AACTGAGCGAATCTGCTATGG	0.433000														3			7		0	0	0.006214	0	0
PRUNE2	158471	broad.mit.edu	37	9	79324615	79324615	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:79324615C>T	uc010mpk.3	-	7	2699	c.2575G>A	c.(2575-2577)Gaa>Aaa	p.E859K	PRUNE2_uc022bih.1_Missense_Mutation_p.E681K	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	859					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GGAGCTGCTTCATTGTTTATC	0.458000														8			22		0	0	0.002299	0	0
FAM135B	51059	broad.mit.edu	37	8	139380195	139380195	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:139380195G>A	uc003yuy.3	-	1	203	c.32C>T	c.(31-33)tCg>tTg	p.S11L	FAM135B_uc003yux.3_5'UTR|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	11								p.S11L(3)|p.S11S(1)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TAGCTCTACCGAAAACTCAAC	0.368000										HNSCC(54;0.14)				28			28		0	0	0.002445	0	0
EPHA4	2043	broad.mit.edu	37	2	222428586	222428586	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:222428586G>A	uc002vmq.3	-	2	730	c.688C>T	c.(688-690)Cga>Tga	p.R230*	EPHA4_uc002vmr.2_Nonsense_Mutation_p.R230*|EPHA4_uc010zlm.1_Nonsense_Mutation_p.R171*	NM_004438	NP_004429	P54764	EPHA4_HUMAN	Homo sapiens EPH receptor A4 (EPHA4), mRNA.	230	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CAGGAGCCTCGAACTTCCACC	0.502000														21			36		0	0	0.003271	0	0
MUC16	94025	broad.mit.edu	37	19	9070817	9070817	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:9070817G>A	uc002mkp.3	-	2	16833	c.16629C>T	c.(16627-16629)atC>atT	p.I5543I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5545	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.D5542N(1)		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						TTCCTGTGGAGATGTCGGGTG	0.507000														46			42		0	0	0.002522	0	0
KRT36	8689	broad.mit.edu	37	17	39643898	39643898	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:39643898T>A	uc002hwt.3	-	3	791	c.791A>T	c.(790-792)gAt>gTt	p.D264V		NM_003771	NP_003762	O76013	KRT36_HUMAN	Homo sapiens keratin 36 (KRT36), mRNA.	264	Coil 2.|Rod.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				GCATCTCATATCCTCCAGGAT	0.592000														58			39		0	0	0.002852	0	0
GDF2	2658	broad.mit.edu	37	10	48414276	48414276	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:48414276G>A	uc001jfa.1	-	1	752	c.592C>T	c.(592-594)Cag>Tag	p.Q198*		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	Homo sapiens growth differentiation factor 2 (GDF2), mRNA.	198					BMP signaling pathway|activin receptor signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of DNA replication|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						CCCTCATCCTGAATGTCCTGG	0.537000														22			26		0	0	0.003330	0	0
MLL3	58508	broad.mit.edu	37	7	151877025	151877025	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:151877025G>A	uc003wla.3	-	36	7555	c.7336C>T	c.(7336-7338)Cct>Tct	p.P2446S	MLL3_uc003wkz.3_Missense_Mutation_p.P1507S|MLL3_uc003wky.3_5'Flank	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	2446	Pro-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GGGGCAACAGGAGACCTAATG	0.527000			N		medulloblastoma									42			33		0	0	0.001786	0	0
SLC20A2	6575	broad.mit.edu	37	8	42294534	42294534	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:42294534G>A	uc003xpe.3	-	7	1865	c.1496C>T	c.(1495-1497)tCc>tTc	p.S499F	SLC20A2_uc010lxl.3_Missense_Mutation_p.S499F|SLC20A2_uc010lxm.3_Missense_Mutation_p.S499F|SLC20A2_uc011lcu.2_Missense_Mutation_p.S301F	NM_006749	NP_006740	Q08357	S20A2_HUMAN	Homo sapiens solute carrier family 20 (phosphate transporter), member 2 (SLC20A2), mRNA.	499					interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GTGAGCAAAGGACCCGAAACA	0.617000														1			7		0	0	0.003080	0	0
CSHL1	1444	broad.mit.edu	37	17	61987878	61987878	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:61987878C>T	uc002jda.1	-	2	270	c.208G>A	c.(208-210)Gaa>Aaa	p.E70K	CSHL1_uc002jcz.1_Intron|CSHL1_uc002jdb.1_5'UTR|CSHL1_uc002jdc.1_Intron|CSHL1_uc002jdd.1_Intron|CSHL1_uc021ubn.1_Silent_p.R100R	NM_022579	NP_001309	Q14406	CSHL_HUMAN	Homo sapiens chorionic somatomammotropin hormone-like 1 (CSHL1), transcript variant 1, mRNA.	70						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						TACTTCTGTTCCTTTGTGATA	0.502000														59			57		0	0	0.003610	0	0
AAED1	195827	broad.mit.edu	37	9	99413700	99413700	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:99413700C>T	uc004awm.3	-	3	429	c.393G>A	c.(391-393)atG>atA	p.M131I		NM_153698	NP_714542	Q7RTV5	CI021_HUMAN	Homo sapiens chromosome 9 open reading frame 21 (C9orf21), mRNA.	131							antioxidant activity|oxidoreductase activity										CACCTCTTTTCATTCCCAATC	0.358000														31			9		0	0	0.000673	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891842	18891842	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:18891842G>A	uc001rdy.3	+	0	798	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K	PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank	NM_033328	NP_201585	Q96KX2	CAZA3_HUMAN	Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA.	214					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				AGAAAGCTTGGAAATAGTTAA	0.398000														6			3		0	0	0.000248	0	0
SETD4	54093	broad.mit.edu	37	21	37418270	37418270	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr21:37418270G>A	uc002yuw.2	-	4	1709	c.336C>T	c.(334-336)acC>acT	p.T112T	SETD4_uc021wiy.1_Silent_p.T112T|SETD4_uc002yuu.3_Non-coding_Transcript|SETD4_uc002yux.2_Silent_p.T88T|SETD4_uc002yuz.3_Silent_p.T88T|SETD4_uc002yuy.3_Silent_p.T112T|SETD4_uc002yva.3_Silent_p.T88T	NM_017438	NP_059134	Q9NVD3	SETD4_HUMAN	Homo sapiens SET domain containing 4 (SETD4), transcript variant 1, mRNA.	112	SET.									autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						AAACTAAAAAGGTGCACAGCG	0.448000														47			38		0	0	0.002522	0	0
PTPN23	25930	broad.mit.edu	37	3	47453312	47453313	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:47453312_47453313CC>TT	uc003crf.1	+	20	4024_4025	c.3928_3929CC>TT	c.(3928-3930)ccc>TTc	p.P1310F	PTPN23_uc011bax.1_Non-coding_Transcript|PTPN23_uc011bay.1_Missense_Mutation_p.P1180F|BC067356_uc003cri.3_5'Flank	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 23 (PTPN23), mRNA.	1310	Tyrosine-protein phosphatase.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GAGGGGCCAGCCCATGGTGCAC	0.629000														13			25		0	0	0.004672	0	0
PLD2	5338	broad.mit.edu	37	17	4713297	4713297	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:4713297A>T	uc002fzc.3	+	8	959	c.833A>T	c.(832-834)cAc>cTc	p.H278L	PLD2_uc010vsj.2_Missense_Mutation_p.H135L|PLD2_uc002fzd.3_Missense_Mutation_p.H278L	NM_002663	NP_002654	O14939	PLD2_HUMAN	Homo sapiens phospholipase D2 (PLD2), transcript variant 1, mRNA.	278	PH.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	GAGGCACGGCACGGCGTGCGG	0.597000														8			18		0	0	0.004990	0	0
RP1	6101	broad.mit.edu	37	8	55540513	55540513	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:55540513T>G	uc003xsd.1	+	3	4219	c.4071T>G	c.(4069-4071)gaT>gaG	p.D1357E	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1357					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATAACTTGGATTCAACTGAAG	0.353000														17			25		0	0	0.004656	0	0
SHROOM3	57619	broad.mit.edu	37	4	77676343	77676343	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:77676343C>T	uc011cbx.2	+	6	5660	c.4707C>T	c.(4705-4707)ccC>ccT	p.P1569P	SHROOM3_uc003hkg.3_Silent_p.P1347P	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	1569					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GGCCACGCCCCAGGTGAGTGA	0.612000														2			3		0	0	0.000248	0	0
NLRP9	338321	broad.mit.edu	37	19	56243935	56243935	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:56243935G>A	uc002qly.3	-	1	1290	c.1262C>T	c.(1261-1263)tCt>tTt	p.S421F		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	421	NACHT.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CTCAGACTCAGATAACCCATT	0.498000														46			36		0	0	0.003755	0	0
SASS6	163786	broad.mit.edu	37	1	100568561	100568561	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:100568561G>A	uc001dsu.3	-	13	1765	c.1624C>T	c.(1624-1626)Cct>Tct	p.P542S	SASS6_uc009wdz.3_Missense_Mutation_p.P375S	NM_194292	NP_919268	Q6UVJ0	SAS6_HUMAN	Homo sapiens spindle assembly 6 homolog (C. elegans) (SASS6), mRNA.	542					centriole replication	centriole				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		ATCGAATGAGGGAAGGTATTC	0.388000														19			45		0	0	0.003610	0	0
PPM1F	9647	broad.mit.edu	37	22	22277638	22277639	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:22277638_22277639GG>AA	uc002zvp.2	-	7	1338_1339	c.1191_1192CC>TT	c.(1189-1194)gcccgg>gcTTgg	p.R398W	PPM1F_uc011aik.2_Missense_Mutation_p.R294W	NM_014634	NP_055449	P49593	PPM1F_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1F (PPM1F), mRNA.	398					apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		CCCCGCTCCCGGGCCGCAGCCA	0.683000														25			23		0	0	0.004672	0	0
BSN	8927	broad.mit.edu	37	3	49698344	49698344	+	Silent	SNP	C	T	T	rs140664989		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:49698344C>T	uc003cxe.4	+	5	9180	c.9066C>T	c.(9064-9066)ctC>ctT	p.L3022L		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	3022					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AGCTGCGGCTCCAGGGCTGCA	0.652000														15			19		0	0	0.001523	0	0
COL5A3	50509	broad.mit.edu	37	19	10084626	10084626	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:10084626G>A	uc002mmq.1	-	47	3613	c.3527C>T	c.(3526-3528)cCt>cTt	p.P1176L		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	1176	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GGGACCCCGAGGACCTGGAGC	0.582000														33			23		0	0	0.005443	0	0
SLIT2	9353	broad.mit.edu	37	4	20597400	20597400	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:20597400G>A	uc003gpr.1	+	30	3467	c.3263G>A	c.(3262-3264)gGa>gAa	p.G1088E	SLIT2_uc003gps.1_Missense_Mutation_p.G1080E	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	1088	EGF-like 5; calcium-binding (Potential).				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding	p.N1087T(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TGTAAAAACGGAGCCCACTGC	0.463000														55			29		0	0	0.002836	0	0
FASN	2194	broad.mit.edu	37	17	80046692	80046692	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:80046692G>A	uc002kdu.3	-	14	2482	c.2365C>T	c.(2365-2367)Cac>Tac	p.H789Y	FASN_uc002kdw.1_Missense_Mutation_p.H5Y	NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	789	Acyl and malonyl transferases (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	Golgi apparatus|cytosol|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	TTGTCCCTGTGATCCTTCTTC	0.662000														4			23		0	0	0.006320	0	0
MUC16	94025	broad.mit.edu	37	19	9046165	9046165	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:9046165G>A	uc002mkp.3	-	4	35670	c.35466C>T	c.(35464-35466)ctC>ctT	p.L11822L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11824	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						GTAGGGTGAAGAGAGAGGATG	0.498000														16			9		0	0	0.006214	0	0
PMM1	5372	broad.mit.edu	37	22	41980374	41980374	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:41980374G>A	uc003bal.2	-	3	347	c.285C>T	c.(283-285)acC>acT	p.T95T		NM_002676	NP_002667	Q92871	PMM1_HUMAN	Homo sapiens phosphomannomutase 1 (PMM1), mRNA.	95					GDP-mannose biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	metal ion binding|phosphomannomutase activity			NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2)	11						GGTTCTGGATGGTCTGGCCAA	0.632000														17			11		0	0	0.001855	0	0
LINC00303	284573	broad.mit.edu	37	1	204006599	204006599	+	RNA	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:204006599G>A	uc001haj.2	-	2		c.421C>T			LINC00303_uc001hak.2_Non-coding_Transcript|LINC00303_uc010pqo.1_Non-coding_Transcript					Homo sapiens long intergenic non-protein coding RNA 303 (LINC00303), non-coding RNA.																		AAGCCCGCGCGATGGGAGTCA	0.607000														59			11		0	0	0.001855	0	0
CELSR2	1952	broad.mit.edu	37	1	109814029	109814029	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:109814029C>T	uc001dxa.4	+	26	7759	c.7698C>T	c.(7696-7698)ttC>ttT	p.F2566F		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	2566					Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		AGCCCTCCTTCGCCGTCCTCC	0.642000														62			143		0	0	0.003610	0	0
STXBP2	6813	broad.mit.edu	37	19	7712642	7712642	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:7712642C>T	uc010xjr.2	+	18	1806	c.1761C>T	c.(1759-1761)ttC>ttT	p.F587F	STXBP2_uc002mha.4_Silent_p.F576F|STXBP2_uc002mhb.4_Silent_p.F573F|STXBP2_uc010dvj.3_Non-coding_Transcript|STXBP2_uc002mhe.1_3'UTR	NM_006949	NP_008880	Q15833	STXB2_HUMAN	Homo sapiens syntaxin binding protein 2 (STXBP2), transcript variant 1, mRNA.	576					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						CGACCCGCTTCCTGGATGACC	0.622000														52			37		0	0	0.003214	0	0
ZBTB38	253461	broad.mit.edu	37	3	141162239	141162239	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:141162239G>A	uc010hup.3	+	1	1059	c.1012G>A	c.(1012-1014)Gtt>Att	p.V338I	ZBTB38_uc003etw.3_Missense_Mutation_p.V337I|ZBTB38_uc010hun.3_Missense_Mutation_p.V334I|ZBTB38_uc010huo.3_Missense_Mutation_p.V337I|ZBTB38_uc003ety.3_Missense_Mutation_p.V337I|ZBTB38_uc021xes.1_Missense_Mutation_p.V337I	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	Homo sapiens zinc finger and BTB domain containing 38 (ZBTB38), mRNA.	337					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						AGCCGCAGAGGTTCCACCTCT	0.507000														29			35		0	0	0.002445	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76486640	76486640	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:76486640G>A	uc002fex.1	+	6	1455	c.1316G>A	c.(1315-1317)gGa>gAa	p.G439E	CNTNAP4_uc002feu.1_Missense_Mutation_p.G435E|CNTNAP4_uc002fev.1_Missense_Mutation_p.G300E|CNTNAP4_uc010chb.1_Missense_Mutation_p.G363E|CNTNAP4_uc002few.2_Missense_Mutation_p.G411E	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	436	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TACCAGCCAGGAAAATTACCC	0.428000														2			12		0	0	0.001368	0	0
HSP90B1	7184	broad.mit.edu	37	12	104337627	104337627	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:104337627C>T	uc001tkb.1	+	13	2107	c.2002C>T	c.(2002-2004)Caa>Taa	p.Q668*	HSP90B1_uc010swg.1_Nonsense_Mutation_p.Q333*|HSP90B1_uc009zui.1_Intron	NM_003299	NP_003290	P14625	ENPL_HUMAN	Homo sapiens heat shock protein 90kDa beta (Grp94), member 1 (HSP90B1), mRNA.	668					ER-associated protein catabolic process|actin rod assembly|anti-apoptosis|cellular response to ATP|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|RNA binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|unfolded protein binding|virion binding			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	ACAAGCGTACCAAACGGGCAA	0.517000														13			4		0	0	0.000248	0	0
OR6T1	219874	broad.mit.edu	37	11	123813578	123813578	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:123813578T>A	uc010sab.2	-	0	968	c.968A>T	c.(967-969)aAa>aTa	p.K323I		NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily T, member 1 (OR6T1), mRNA.	323					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		ATAAGATCATTTCCTTTGACT	0.413000														29			14		0	0	0.003163	0	0
CIC	23152	broad.mit.edu	37	19	42797226	42797226	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:42797226C>T	uc002otf.1	+	14	3628	c.3588C>T	c.(3586-3588)gcC>gcT	p.A1196A		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	1196	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AGGCAGGTGCCTCTGGGCGGC	0.697000			"""Mis, F, S"""		oligodendroglioma									16			9		0	0	0.000673	0	0
PRND	23627	broad.mit.edu	37	20	4705609	4705609	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:4705609G>A	uc021waf.1	+	0	412	c.412G>A	c.(412-414)Gag>Aag	p.E138K	PRND_uc002wkz.3_Missense_Mutation_p.E138K	NM_012409	NP_036541	Q9UKY0	PRND_HUMAN	Homo sapiens prion protein 2 (dublet) (PRND), mRNA.	138	Globular.				protein homooligomerization	anchored to membrane|plasma membrane				breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	13						GCTGGTCCAGGAGCTCTGCTC	0.612000														17			24		0	0	0.003954	0	0
ORC1	4998	broad.mit.edu	37	1	52849539	52849539	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:52849539C>T	uc001ctt.3	-	11	2057	c.1826G>A	c.(1825-1827)gGg>gAg	p.G609E	ORC1_uc010oni.2_Missense_Mutation_p.G604E|ORC1_uc001ctu.3_Missense_Mutation_p.G609E	NM_004153	NP_004144	Q13415	ORC1_HUMAN	Homo sapiens origin recognition complex, subunit 1 (ORC1), transcript variant 1, mRNA.	609	Necessary and sufficient for ORC complex assembly.				DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CTGAGGTGACCCTCGGGTGCA	0.542000														19			48		0	0	0.003610	0	0
CWH43	80157	broad.mit.edu	37	4	49034726	49034726	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:49034726A>G	uc003gyv.3	+	11	1834	c.1652A>G	c.(1651-1653)aAc>aGc	p.N551S	CWH43_uc011bzl.2_Missense_Mutation_p.N524S	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	551					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						CACTTTGGGAACCACGAGTGG	0.438000														17			21		0	0	0.003330	0	0
MEIS1	4211	broad.mit.edu	37	2	66795807	66795807	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:66795807G>A	uc002sdu.3	+	10	1490	c.1033G>A	c.(1033-1035)Gga>Aga	p.G345R	MEIS1_uc002sdt.3_Missense_Mutation_p.G345R|MEIS1_uc010yqh.2_Non-coding_Transcript|MEIS1_uc010yqi.2_Missense_Mutation_p.G280R|MEIS1_uc002sdw.1_Missense_Mutation_p.G201R|MEIS1_uc021vit.1_5'Flank	NM_002398	NP_002389	O00470	MEIS1_HUMAN	Homo sapiens Meis homeobox 1 (MEIS1), mRNA.	345	Required for transcriptional activation (By similarity).						sequence-specific DNA binding transcription factor activity	p.G345*(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						AGTAAGTCAAGGAACACCTTA	0.408000														71			65		0	0	0.003610	0	0
MGA	23269	broad.mit.edu	37	15	42054352	42054352	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:42054352G>A	uc010ucy.2	+	21	7717	c.7536G>A	c.(7534-7536)aaG>aaA	p.K2512K	MGA_uc010ucz.2_Silent_p.K2303K|MGA_uc010uda.1_Silent_p.K1128K	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	2473						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TGGTCCTGAAGAAGCTAGAGT	0.373000														3			19		0	0	0.001216	0	0
ZNF648	127665	broad.mit.edu	37	1	182026593	182026593	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:182026593C>T	uc001goz.3	-	1	761	c.553G>A	c.(553-555)Ggg>Agg	p.G185R	ZNF648_uc021pfu.1_Missense_Mutation_p.G185R	NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	Homo sapiens zinc finger protein 648 (ZNF648), mRNA.	185					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						GAAGAGTTCCCTGCGGACGTG	0.592000														26			4		0	0	0.000248	0	0
C4orf21	55345	broad.mit.edu	37	4	113539079	113539079	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:113539079C>T	uc003iau.3	-	5	2330	c.2119G>A	c.(2119-2121)Gaa>Aaa	p.E707K	C4orf21_uc003iaw.3_Missense_Mutation_p.E707K	NM_018392	NP_060862	Q86YA3	CD021_HUMAN	Homo sapiens chromosome 4 open reading frame 21 (C4orf21), mRNA.	707										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TGAGCATCTTCTGAAAATAGA	0.338000														23			17		0	0	0.004007	0	0
PAEP	5047	broad.mit.edu	37	9	138454250	138454250	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:138454250G>A	uc004cge.1	+	1	251	c.207G>A	c.(205-207)gaG>gaA	p.E69E	PAEP_uc010naw.1_Silent_p.E47E|PAEP_uc010nay.3_Silent_p.E69E|PAEP_uc010naz.3_Non-coding_Transcript|PAEP_uc010nba.1_Silent_p.E69E|PAEP_uc004cgd.1_Silent_p.E69E|PAEP_uc011mdp.1_Silent_p.E47E|PAEP_uc004cgg.1_Silent_p.E69E|PAEP_uc004cgf.1_Silent_p.E69E	NM_001018049	NP_002562	P09466	PAEP_HUMAN	Homo sapiens progestagen-associated endometrial protein (PAEP), transcript variant 1, mRNA.	69					multicellular organismal development	extracellular region	binding|transporter activity			cervix(1)|endometrium(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		CCACCCCCGAGGACAACCTGG	0.622000														10			20		0	0	0.002299	0	0
MED13	9969	broad.mit.edu	37	17	60062025	60062026	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:60062025_60062026GG>AA	uc002izo.3	-	13	2754_2755	c.2677_2678CC>TT	c.(2677-2679)cct>TTt	p.P893F		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	Homo sapiens mediator complex subunit 13 (MED13), mRNA.	893					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AATTTCAGAAGGTTTGGGGCTA	0.307000														22			22		0	0	0.004672	0	0
PPAN-P2RY11	692312	broad.mit.edu	37	19	10224563	10224563	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:10224563C>T	uc002mnc.3	+	1	475	c.274C>T	c.(274-276)Ccc>Tcc	p.P92S	PPAN-P2RY11_uc002mna.3_Missense_Mutation_p.P512S|PPAN-P2RY11_uc010xla.2_3'UTR	NM_002566	NP_002557	Q9NQ55	SSF1_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 11 (P2RY11), mRNA.	0	Brix.				RNA splicing	nucleolus	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	31			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			CCTCTATCCCCCCAAGCACTG	0.677000											OREG0025230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		5			8		0	0	0.003080	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798647	55798647	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:55798647C>T	uc010riw.2	+	0	753	c.753C>T	c.(751-753)ttC>ttT	p.F251F		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AS, member 1 (OR5AS1), mRNA.	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					TCACCTTATTCTATGGAGCGC	0.458000														44			22		0	0	0.007291	0	0
ZNF133	7692	broad.mit.edu	37	20	18295991	18295991	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:18295991T>C	uc010zrv.1	+	4	708	c.505T>C	c.(505-507)Ttc>Ctc	p.F169L	ZNF133_uc010gcq.2_Missense_Mutation_p.F166L|ZNF133_uc010zrw.1_Missense_Mutation_p.F103L|ZNF133_uc010gcr.2_Missense_Mutation_p.F166L|ZNF133_uc010zrx.1_Missense_Mutation_p.F71L|ZNF133_uc002wql.4_Missense_Mutation_p.F165L|ZNF133_uc010gcs.3_Missense_Mutation_p.F165L|ZNF133_uc010zry.2_Missense_Mutation_p.F71L|ZNF133_uc002wqm.2_Missense_Mutation_p.F166L	NM_003434	NP_003425	P52736	ZN133_HUMAN	Homo sapiens zinc finger protein 133 (ZNF133), transcript variant 1, mRNA.	166						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P168P(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						TCTGGGAGCGTTCTCCAGGCC	0.587000														49			46		0	0	0.003610	0	0
TMPRSS4	56649	broad.mit.edu	37	11	117985853	117985853	+	Splice_Site	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:117985853G>A	uc021qrd.1	+	11	1301	c.1010_splice	c.e11-1	p.G337_splice	TMPRSS4_uc009yzu.3_Intron|TMPRSS4_uc021qre.1_Splice_Site_p.G332_splice|TMPRSS4_uc010rxo.2_Splice_Site_p.G335_splice|TMPRSS4_uc010rxs.2_Splice_Site_p.G297_splice|TMPRSS4_uc010rxq.2_Splice_Site_p.G190_splice|TMPRSS4_uc010rxr.2_Splice_Site_p.G312_splice|TMPRSS4_uc010rxt.2_Splice_Site_p.G312_splice	NM_019894	NP_063947	Q9NRS4	TMPS4_HUMAN	Homo sapiens transmembrane protease, serine 4 (TMPRSS4), transcript variant 1, mRNA.	337	Peptidase S1.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		ACCCTCCCAGGGAAGATGTCT	0.552000														10			12		0	0	0.001368	0	0
SLC13A1	6561	broad.mit.edu	37	7	122769502	122769502	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:122769502T>A	uc003vkm.3	-	8	991	c.966A>T	c.(964-966)aaA>aaT	p.K322N	SLC13A1_uc010lks.3_Missense_Mutation_p.K198N	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 1 (SLC13A1), mRNA.	322						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	GTTGGACTGTTTTGGTTTTGC	0.388000														24			28		0	0	0.001786	0	0
ZNF782	158431	broad.mit.edu	37	9	99581682	99581682	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:99581682A>G	uc004awp.1	-	5	904	c.623T>C	c.(622-624)aTt>aCt	p.I208T	ZNF782_uc011lup.1_Missense_Mutation_p.I76T	NM_001001662	NP_001001662	Q6ZMW2	ZN782_HUMAN	Homo sapiens zinc finger protein 782 (ZNF782), mRNA.	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				CAGAGTCTGAATTGTCTGATG	0.363000														26			10		0	0	0.000978	0	0
SPTBN4	57731	broad.mit.edu	37	19	41038583	41038583	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:41038583G>A	uc002ony.3	+	18	4086	c.4000G>A	c.(4000-4002)Gag>Aag	p.E1334K	SPTBN4_uc002onx.3_Missense_Mutation_p.E1334K|SPTBN4_uc002onz.3_Missense_Mutation_p.E1334K|SPTBN4_uc010egx.3_Missense_Mutation_p.E77K|SPTBN4_uc010egy.1_Missense_Mutation_p.E10K|SPTBN4_uc002ooa.3_Missense_Mutation_p.E10K|SPTBN4_uc010egz.1_Missense_Mutation_p.E10K	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	1334					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGGCACGCGGGAGGACAACCA	0.607000														26			19		0	0	0.001882	0	0
HELZ	9931	broad.mit.edu	37	17	65105655	65105656	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:65105655_65105656GG>AA	uc010wqk.2	-	28	4255_4256	c.4068_4069CC>TT	c.(4066-4071)atccct>atTTct	p.P1357S	HELZ_uc002jfv.4_Non-coding_Transcript|HELZ_uc002jfx.4_Missense_Mutation_p.P1356S|HELZ_uc010der.3_5'UTR	NM_014877	NP_055692			Homo sapiens helicase with zinc finger (HELZ), mRNA.											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TGGCGATTAGGGATTGCATACT	0.465000														36			22		0	0	0.004672	0	0
HCRTR2	3062	broad.mit.edu	37	6	55147032	55147032	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:55147032G>A	uc003pcl.3	+	6	1430	c.1115G>A	c.(1114-1116)cGa>cAa	p.R372Q	HCRTR2_uc010jzv.3_Non-coding_Transcript	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	372					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GGAAAATTTCGAGAGGAATTT	0.453000														3			6		0	0	0.001168	0	0
APLP1	333	broad.mit.edu	37	19	36362827	36362827	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:36362827G>A	uc002oce.3	+	5	877	c.739G>A	c.(739-741)Gaa>Aaa	p.E247K	APLP1_uc010xsz.2_Missense_Mutation_p.E208K|APLP1_uc002ocf.3_Missense_Mutation_p.E247K|APLP1_uc002ocg.3_Missense_Mutation_p.E150K|APLP1_uc010xta.2_Missense_Mutation_p.E241K	NM_005166	NP_005157	P51693	APLP1_HUMAN	Homo sapiens amyloid beta (A4) precursor-like protein 1 (APLP1), transcript variant 2, mRNA.	247	Poly-Glu.				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGAAGAGGAGGAATCCTTCCC	0.612000														45			43		0	0	0.003214	0	0
TMEM176B	28959	broad.mit.edu	37	7	150490270	150490270	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:150490270G>A	uc022apx.1	-	3	632	c.506C>T	c.(505-507)cCt>cTt	p.P169L	TMEM176B_uc003whu.4_Missense_Mutation_p.P169L|TMEM176B_uc003whv.4_Missense_Mutation_p.P132L|TMEM176B_uc003whw.4_Missense_Mutation_p.P169L	NM_014020	NP_054739	Q3YBM2	T176B_HUMAN	Homo sapiens transmembrane protein 176B (TMEM176B), transcript variant 1, mRNA.	169					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGGAAGACAGGGTCTGAGCG	0.502000														4			65		0	0	0.003610	0	0
UNC13B	10497	broad.mit.edu	37	9	35396845	35396845	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:35396845G>T	uc003zwr.3	+	26	3488	c.3196G>T	c.(3196-3198)Gag>Tag	p.E1066*	UNC13B_uc003zwq.3_Nonsense_Mutation_p.E1066*	NM_006377	NP_006368	O14795	UN13B_HUMAN	Homo sapiens unc-13 homolog B (C. elegans) (UNC13B), mRNA.	1066	MHD1.				excretion|induction of apoptosis|intracellular signal transduction	Golgi apparatus|cell junction|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CAGGTGGTTTGAGCAGTTCGT	0.562000														177			7		0.00307968	0.00423592	0.003080	1	0
SNRNP35	11066	broad.mit.edu	37	12	123950422	123950422	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:123950422C>T	uc021rfv.1	+	1	400	c.350C>T	c.(349-351)gCt>gTt	p.A117V	SNRNP35_uc001ufb.1_Missense_Mutation_p.A112V|SNRNP35_uc001ufc.1_Intron|SNRNP35_uc021rfw.1_Missense_Mutation_p.A112V	NM_180699	NP_073208	Q16560	U1SBP_HUMAN	Homo sapiens small nuclear ribonucleoprotein 35kDa (U11/U12) (SNRNP35), transcript variant 3, mRNA.	112	RRM.				mRNA processing	U12-type spliceosomal complex	RNA binding|nucleotide binding			NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						TACCGAGATGCTGATGGCCTG	0.542000														51			20		0	0	0.001523	0	0
CACHD1	57685	broad.mit.edu	37	1	65139132	65139132	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:65139132C>T	uc001dbo.1	+	18	2664	c.2559C>T	c.(2557-2559)ttC>ttT	p.F853F	CACHD1_uc001dbp.1_Silent_p.F608F|CACHD1_uc001dbq.1_Silent_p.F608F|CACHD1_uc010opa.1_Silent_p.F97F	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	Homo sapiens cache domain containing 1 (CACHD1), mRNA.	904	Cache 2.				calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TTTATAAATTCAACACCAGCC	0.413000														17			43		0	0	0.003610	0	0
KIAA1715	80856	broad.mit.edu	37	2	176856966	176856966	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:176856966G>A	uc010fqw.1	-	3	448	c.448C>T	c.(448-450)Cca>Tca	p.P150S	KIAA1715_uc010zes.1_Missense_Mutation_p.P86S|KIAA1715_uc002ukd.1_Intron|KIAA1715_uc002ukc.1_Missense_Mutation_p.P84S|KIAA1715_uc010zer.1_Missense_Mutation_p.P84S|KIAA1715_uc010zet.1_Non-coding_Transcript			Q9C0E8	LNP_HUMAN	Homo sapiens KIAA1715 (KIAA1715), mRNA.	84						integral to membrane	protein binding			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			TACATCAATGGAAAAGCAAAA	0.303000														19			5		0	0	0.001168	0	0
PKD1L1	168507	broad.mit.edu	37	7	47892794	47892794	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:47892794G>A	uc003tny.2	-	30	4925	c.4891C>T	c.(4891-4893)Ctt>Ttt	p.L1631F		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	1631					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TGCTTCACAAGAAAATCAGAG	0.378000														7			37		0	0	0.005524	0	0
PITPNM2	57605	broad.mit.edu	37	12	123481385	123481385	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:123481385G>A	uc001uej.1	-	10	1744	c.1545C>T	c.(1543-1545)ccC>ccT	p.P515P	PITPNM2_uc001uek.1_Silent_p.P515P	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 2 (PITPNM2), mRNA.	515					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		TGGCCAGCAGGGGGAGGGCAG	0.632000														33			26		0	0	0.005443	0	0
CHRM2	1129	broad.mit.edu	37	7	136699995	136699995	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:136699995C>T	uc003vtf.1	+	3	1006	c.383C>T	c.(382-384)cCt>cTt	p.P128L	CHRM2_uc003vtg.1_Missense_Mutation_p.P128L|CHRM2_uc003vti.1_Missense_Mutation_p.P128L|CHRM2_uc003vtm.1_Missense_Mutation_p.P128L|CHRM2_uc003vtj.1_Missense_Mutation_p.P128L|CHRM2_uc003vtk.1_Missense_Mutation_p.P128L|CHRM2_uc003vtl.1_Missense_Mutation_p.P128L|CHRM2_uc003vtn.1_Missense_Mutation_p.P128L|CHRM2_uc003vto.1_Missense_Mutation_p.P128L|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Missense_Mutation_p.P128L	NM_001006630	NP_001006633	P08172	ACM2_HUMAN	Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA.	128					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	GTCACAAAACCTCTGACCTAC	0.502000														2			4		0	0	0.000248	0	0
KLRC2	3822	broad.mit.edu	37	12	10571032	10571032	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:10571032T>A	uc001qyi.1	-	3	442	c.397A>T	c.(397-399)Aag>Tag	p.K133*	KLRC2_uc001qyf.3_Nonsense_Mutation_p.K133*|KLRC2_uc021qvc.1_Nonsense_Mutation_p.K133*|KLRC2_uc001qyh.3_Nonsense_Mutation_p.K133*|KLRC2_uc021qvd.1_Nonsense_Mutation_p.K133*	NM_007333	NP_031359	P26717	NKG2C_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily C, member 3 (KLRC3), transcript variant 2, mRNA.	133	C-type lectin.				cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity			kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						CTTCTTTCCTTACCAATGTAA	0.363000														53			21		0	0	0.002299	0	0
SIK3	23387	broad.mit.edu	37	11	116729393	116729393	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:116729393G>A	uc001ppy.3	-	19	2506	c.2470C>T	c.(2470-2472)Cct>Tct	p.P824S	SIK3_uc001ppz.3_Intron|SIK3_uc001pqa.3_Intron|SIK3_uc001ppw.3_Intron|SIK3_uc001ppx.3_Intron|SIK3_uc001pqb.3_Missense_Mutation_p.P127S	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	Homo sapiens SIK family kinase 3 (SIK3), mRNA.	824	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TAGTTAGCAGGGGAGAACCGA	0.542000														156			135		0	0	0.003610	0	0
RNF32	140545	broad.mit.edu	37	7	156447389	156447389	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:156447389G>A	uc003wmo.3	+	3	624	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K	RNF32_uc010lql.1_Non-coding_Transcript|RNF32_uc010lqm.3_Missense_Mutation_p.E132K|RNF32_uc003wmq.3_Missense_Mutation_p.E132K|RNF32_uc003wmr.3_Missense_Mutation_p.E132K|RNF32_uc003wms.3_Missense_Mutation_p.E132K|RNF32_uc003wmu.3_Non-coding_Transcript|RNF32_uc003wmt.3_Missense_Mutation_p.E132K	NM_030936	NP_112198	Q9H0A6	RNF32_HUMAN	Homo sapiens ring finger protein 32 (RNF32), transcript variant 3, mRNA.	132						aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		CATCTGTAAAGAAGAATTCGA	0.557000														27			22		0	0	0.006320	0	0
C10orf137	26098	broad.mit.edu	37	10	127411683	127411683	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:127411683G>A	uc001liq.1	+	2	657	c.364G>A	c.(364-366)Gat>Aat	p.D122N	C10orf137_uc001lin.3_Missense_Mutation_p.D122N|C10orf137_uc001lip.1_5'UTR|C10orf137_uc001lio.1_Missense_Mutation_p.D122N	NM_001202438	NP_001189367	Q3B7T1	EDRF1_HUMAN	Homo sapiens chromosome 10 open reading frame 137 (C10orf137), transcript variant 1, mRNA.	122					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AAATGATGTGGATGTTGTCTC	0.363000														78			63		0	0	0.003610	0	0
OR8S1	341568	broad.mit.edu	37	12	48919933	48919933	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:48919933C>T	uc010slu.2	+	0	519	c.519C>T	c.(517-519)atC>atT	p.I173I		NM_001005203	NP_001005203	Q8NH09	OR8S1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily S, member 1 (OR8S1), mRNA.	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						AAGCCAAAATCATTCACCACT	0.507000														47			11		0	0	0.000978	0	0
MECOM	2122	broad.mit.edu	37	3	168833467	168833467	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:168833467C>T	uc011bpj.1	-	7	2596	c.2193G>A	c.(2191-2193)aaG>aaA	p.K731K	MECOM_uc010hwk.1_Silent_p.K566K|MECOM_uc003ffj.3_Silent_p.K608K|MECOM_uc003ffi.3_Silent_p.K543K|MECOM_uc011bpi.1_Silent_p.K544K|MECOM_uc003ffn.3_Silent_p.K543K|MECOM_uc003ffk.2_Silent_p.K543K|MECOM_uc003ffl.2_Silent_p.K703K|MECOM_uc011bpk.1_Silent_p.K543K|MECOM_uc010hwn.2_Silent_p.K731K	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	53							sequence-specific DNA binding transcription factor activity	p.K543K(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TCTGCAGTTTCTTTACTTCAC	0.473000														8			14		0	0	0.006122	0	0
PCDH15	65217	broad.mit.edu	37	10	55569124	55569124	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:55569124G>A	uc021pqw.1	-	35	5090	c.4695C>T	c.(4693-4695)atC>atT	p.I1565I	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_3'UTR|PCDH15_uc010qht.2_Silent_p.I1560I|PCDH15_uc021pqx.1_3'UTR	NM_001142769	NP_001136241	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant I, mRNA.	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CAAGGTCAACGATTCCTCTTT	0.433000										HNSCC(58;0.16)				20			18		0	0	0.004990	0	0
BPIFC	254240	broad.mit.edu	37	22	32828360	32828360	+	Splice_Site	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:32828360G>A	uc003amn.2	-	10	1149	c.1149_splice	c.e10+1	p.F383_splice	BPIFC_uc010gwo.2_Intron|BPIFC_uc011amb.1_Splice_Site_p.F107_splice	NM_174932	NP_777592	Q8NFQ6	BPIL2_HUMAN	Homo sapiens BPI fold containing family C (BPIFC), mRNA.	383						extracellular region	lipopolysaccharide binding|phospholipid binding										CCAGACTTACGAAGTCCATGG	0.517000														35			30		0	0	0.001786	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69100292	69100292	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:69100292G>A	uc003hdw.4	-	4	494	c.358C>T	c.(358-360)Cct>Tct	p.P120S		NM_182502	NP_872308	Q86T26	TM11B_HUMAN	Homo sapiens transmembrane protease, serine 11B (TMPRSS11B), mRNA.	120	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						TCTGCTGGAGGAAACTTGAAT	0.383000														5			16		0	0	0.003163	0	0
ATP13A4	84239	broad.mit.edu	37	3	193176919	193176919	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:193176919G>A	uc003ftd.3	-	13	1733	c.1625C>T	c.(1624-1626)aCc>aTc	p.T542I	ATP13A4_uc003fte.1_Missense_Mutation_p.T542I|ATP13A4_uc011bsr.1_Missense_Mutation_p.T13I|ATP13A4_uc010hzi.3_Non-coding_Transcript|ATP13A4_uc003ftf.4_Missense_Mutation_p.T248I	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	542					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TCCCTGGATGGTCCCATCAAG	0.542000														30			43		0	0	0.002222	0	0
OR8G2	26492	broad.mit.edu	37	11	124095993	124095993	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:124095993G>A	uc010saf.2	+	0	596	c.596G>A	c.(595-597)gGg>gAg	p.G199E		NM_001007249	NP_001007250	Q8N0Y1	Q8N0Y1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily G, member 2 (OR8G2), mRNA.	199						integral to membrane	olfactory receptor activity						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		CCTCTCTTGGGGCTCTCCTGC	0.428000														33			63		0	0	0.003610	0	0
C8orf34	116328	broad.mit.edu	37	8	69728120	69728120	+	Splice_Site	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:69728120G>A	uc010lyz.3	+	13	1841	c.1550_splice	c.e13-1	p.R517_splice	C8orf34_uc003xyb.3_Splice_Site_p.R406_splice	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA.	431					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			TTGTTGTGCAGGTTCCGCTGA	0.418000														17			16		0	0	0.007413	0	0
TXN2	25828	broad.mit.edu	37	22	36876737	36876738	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:36876737_36876738GG>AA	uc003apk.1	-	1	224_225	c.147_148CC>TT	c.(145-150)gcccgg>gcTTgg	p.R50W	TXN2_uc003apl.1_Non-coding_Transcript	NM_012473	NP_036605	Q99757	THIOM_HUMAN	Homo sapiens thioredoxin 2 (TXN2), nuclear gene encoding mitochondrial protein, mRNA.	50					cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	mitochondrion|nucleolus	electron carrier activity			breast(1)|lung(1)|prostate(1)	3						TATATTGTCCGGGCTGGGTTGG	0.554000														30			25		0	0	0.004672	0	0
CDR1	1038	broad.mit.edu	37	X	139866501	139866501	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:139866501C>T	uc004fbg.1	-	0	223	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K	AK054921_uc004fbf.1_Non-coding_Transcript	NM_004065	NP_004056	P51861	CDR1_HUMAN	Homo sapiens cerebellar degeneration-related protein 1, 34kDa (CDR1), mRNA.	11	23 X 6 AA approximate repeats.									breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				GGTACGTCTTCCAGAAAATCC	0.423000														2			39		0	0	0.003214	0	0
TMTC4	84899	broad.mit.edu	37	13	101264734	101264734	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:101264734C>T	uc001vot.3	-	16	2295	c.1982G>A	c.(1981-1983)aGa>aAa	p.R661K	TMTC4_uc001vou.3_Missense_Mutation_p.R642K|TMTC4_uc010tja.2_Missense_Mutation_p.R531K	NM_032813	NP_001073137	Q5T4D3	TMTC4_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 4 (TMTC4), transcript variant 1, mRNA.	642						integral to membrane	binding			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CAGTGCCTCTCTTCCAACTGC	0.418000														38			22		0	0	0.003954	0	0
SOLH	6650	broad.mit.edu	37	16	601531	601532	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:601531_601532CC>TT	uc002chi.3	+	8	2575_2576	c.2212_2213CC>TT	c.(2212-2214)ccg>TTg	p.P738L	SOLH_uc002chj.3_5'Flank	NM_005632	NP_005623	O75808	CAN15_HUMAN	Homo sapiens small optic lobes homolog (Drosophila) (SOLH), mRNA.	738	Calpain catalytic.				proteolysis	intracellular	calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Hepatocellular(780;0.00335)				GCTCCGAAACCCGTGGGGCCGT	0.693000														55			39		0	0	0.004672	0	0
CORO1A	11151	broad.mit.edu	37	16	30198142	30198142	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:30198142G>A	uc010bzq.3	+	4	762	c.327G>A	c.(325-327)tgG>tgA	p.W109*	BOLA2_uc010bzb.1_Intron|CORO1A_uc010vej.2_Nonsense_Mutation_p.W109*|CORO1A_uc002dww.3_Nonsense_Mutation_p.W109*|CORO1A_uc002dwx.3_Nonsense_Mutation_p.W3*|CORO1A_uc002dwy.1_5'UTR|CORO1A_uc002dwz.1_5'Flank	NM_001193333	NP_009005	P31146	COR1A_HUMAN	Homo sapiens coronin, actin binding protein, 1A (CORO1A), transcript variant 1, mRNA.	109					cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						TGCAGGTGTGGGAGATCCCAG	0.652000														19			21		0	0	0.003954	0	0
ORAOV1	220064	broad.mit.edu	37	11	69482350	69482350	+	Silent	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:69482350A>G	uc001opc.3	-	4	509	c.351T>C	c.(349-351)tgT>tgC	p.C117C	ORAOV1_uc010rqi.1_Intron|ORAOV1_uc009ysm.3_Non-coding_Transcript|ORAOV1_uc001opd.3_Silent_p.C58C	NM_153451	NP_703152	Q8WV07	ORAV1_HUMAN	Homo sapiens oral cancer overexpressed 1 (ORAOV1), mRNA.	117										NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;5.64e-57)|all cancers(3;5.98e-51)|BRCA - Breast invasive adenocarcinoma(2;5.49e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)			TGAGTAACGAACAAAACTGAA	0.368000														25			31		0	0	0.004878	0	0
DNAH5	1767	broad.mit.edu	37	5	13807748	13807748	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:13807748C>T	uc003jfd.2	-	46	7881	c.7839G>A	c.(7837-7839)atG>atA	p.M2613I		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2613	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GACTCTTGATCATGTGACATT	0.383000									Kartagener syndrome					8			6		0	0	0.001168	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21453303	21453303	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:21453303C>T	uc001rer.3	-	6	1140	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K	SLCO1A2_uc010siq.2_Missense_Mutation_p.E165K|SLCO1A2_uc001res.3_Missense_Mutation_p.E297K|SLCO1A2_uc010sio.2_Missense_Mutation_p.E165K|SLCO1A2_uc010sip.2_Missense_Mutation_p.E165K|SLCO1A2_uc001ret.3_Missense_Mutation_p.E295K|SLCO1A2_uc001reu.2_Missense_Mutation_p.E277K	NM_021094	NP_602307	P46721	SO1A2_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1A2 (SLCO1A2), transcript variant 2, mRNA.	297					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						CCATATTTTTCCTTCTTGACC	0.294000														11			4		0	0	0.000248	0	0
VLDLR	7436	broad.mit.edu	37	9	2643945	2643945	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:2643945C>T	uc003zhk.1	+	6	1449	c.1052C>T	c.(1051-1053)cCc>cTc	p.P351L	VLDLR_uc003zhl.1_Missense_Mutation_p.P351L|VLDLR_uc003zhm.1_Non-coding_Transcript	NM_003383	NP_003374	P98155	VLDLR_HUMAN	Homo sapiens very low density lipoprotein receptor (VLDLR), transcript variant 1, mRNA.	351	LDL-receptor class A 8.				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		AGTGATGAGCCCCTGAAAGAG	0.483000														29			6		0	0	0.001984	0	0
EGFR	1956	broad.mit.edu	37	7	55242439	55242439	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:55242439A>G	uc003tqk.3	+	18	2455	c.2209A>G	c.(2209-2211)Aaa>Gaa	p.K737E	EGFR_uc022adm.1_Missense_Mutation_p.K737E|EGFR_uc010kzg.2_Missense_Mutation_p.K692E|EGFR_uc022adn.1_Missense_Mutation_p.K692E|EGFR_uc011kco.2_Missense_Mutation_p.K684E	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	737	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.E736G(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGAAGGTGAGAAAGTTAAAAT	0.483000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				1			36		0	0	0.006999	0	0
AP3B2	8120	broad.mit.edu	37	15	83328679	83328679	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:83328679G>A	uc010uoi.2	-	25	3250	c.3073C>T	c.(3073-3075)Cgg>Tgg	p.R1025W	AP3B2_uc010uoh.2_Missense_Mutation_p.R1006W|AP3B2_uc010uoj.2_Missense_Mutation_p.R974W|AP3B2_uc010bmp.3_Missense_Mutation_p.R69W|AP3B2_uc010uog.2_Missense_Mutation_p.R642W	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	Homo sapiens adaptor-related protein complex 3, beta 2 subunit (AP3B2), mRNA.	1006					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	COPI-coated vesicle|clathrin coated vesicle membrane|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			TGGTCACTCCGACAGGTGTCT	0.547000														65			66		0	0	0.003610	0	0
VDR	7421	broad.mit.edu	37	12	48251326	48251326	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:48251326C>T	uc001rql.3	-	4	974	c.573G>A	c.(571-573)aaG>aaA	p.K191K	VDR_uc001rqm.3_Silent_p.K141K|VDR_uc001rqn.3_Silent_p.K141K|VDR_uc010slq.2_Silent_p.K109K	NM_001017536	NP_001017536	P11473	VDR_HUMAN	Homo sapiens vitamin D (1,25- dihydroxyvitamin D3) receptor (VDR), transcript variant 3, mRNA.	141	Hinge.				decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	GGTCGTAGGTCTTATGGTGGG	0.607000														17			27		0	0	0.003271	0	0
POU1F1	5449	broad.mit.edu	37	3	87313585	87313585	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:87313585G>A	uc010hoj.1	-	2	495	c.370C>T	c.(370-372)Ctg>Ttg	p.L124L	POU1F1_uc003dqq.1_Silent_p.L98L	NM_001122757	NP_001116229	P28069	PIT1_HUMAN	Homo sapiens POU class 1 homeobox 1 (POU1F1), transcript variant beta, mRNA.	98	POU-specific.				negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.D123Y(1)		central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)		TCCTCTGCCAGAAGAGGCTGG	0.433000														41			12		0	0	0.001855	0	0
CD3E	916	broad.mit.edu	37	11	118183553	118183553	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:118183553G>A	uc001psq.4	+	5	580	c.324G>A	c.(322-324)gcG>gcA	p.A108A	CD3E_uc010rya.2_Silent_p.A108A	NM_000733	NP_000724	P07766	CD3E_HUMAN	Homo sapiens CD3e molecule, epsilon (CD3-TCR complex) (CD3E), mRNA.	108	Ig-like.				G-protein coupled receptor protein signaling pathway|T cell costimulation|T cell receptor signaling pathway|signal complex assembly|transmembrane receptor protein tyrosine kinase signaling pathway	external side of plasma membrane|integral to plasma membrane	SH3 domain binding|T cell receptor binding|protein heterodimerization activity|protein kinase binding|receptor signaling complex scaffold activity|receptor signaling protein activity|transmembrane receptor activity	p.A108A(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	Muromonab(DB00075)	CAGAAGATGCGAACTTTTATC	0.468000														33			25		0	0	0.004656	0	0
LGI1	9211	broad.mit.edu	37	10	95556971	95556971	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:95556971G>A	uc001kjc.4	+	7	1421	c.1085G>A	c.(1084-1086)tGg>tAg	p.W362*	LGI1_uc021pwk.1_Intron|LGI1_uc010qnv.2_Nonsense_Mutation_p.W314*|LGI1_uc009xui.3_Non-coding_Transcript	NM_005097	NP_005088	O95970	LGI1_HUMAN	Homo sapiens leucine-rich, glioma inactivated 1 (LGI1), mRNA.	362					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				ATTTACAAATGGAACGGAAAC	0.403000														28			17		0	0	0.007413	0	0
WNK2	65268	broad.mit.edu	37	9	96024151	96024151	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:96024151C>T	uc004ati.1	+	11	3122	c.3122C>T	c.(3121-3123)aCc>aTc	p.T1041I	WNK2_uc011lud.1_Missense_Mutation_p.T1041I|WNK2_uc004atj.3_Missense_Mutation_p.T1041I|WNK2_uc004atk.3_Missense_Mutation_p.T678I	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	1041					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CAGGTCCCCACCGTGCCTGTG	0.701000														30			11		0	0	0.000673	0	0
TCRBV3S1	0	broad.mit.edu	37	7	142428841	142428841	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:142428841C>T	uc011ksk.1	+	1	218	c.201C>T	c.(199-201)ttC>ttT	p.F67F	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Silent_p.F22F					SubName: Full=V_segment translation product; Flags: Fragment;																		TGATCTATTTCTCATATGATG	0.453000														13			17		0	0	0.001216	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37505206	37505206	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:37505206G>A	uc021ppc.1	+	31	2898	c.2799G>A	c.(2797-2799)atG>atA	p.M933I	ANKRD30A_uc001iza.1_Missense_Mutation_p.M933I	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	989						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CAGGAAAAATGGAACAAATGA	0.333000														3			5		0	0	0.001168	0	0
DDI1	414301	broad.mit.edu	37	11	103908010	103908010	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:103908010C>T	uc001phr.2	+	0	703	c.460C>T	c.(460-462)Ccc>Tcc	p.P154S	PDGFD_uc001php.3_Intron|PDGFD_uc001phq.3_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	Homo sapiens DNA-damage inducible 1 homolog 1 (S. cerevisiae) (DDI1), mRNA.	154					proteolysis		aspartic-type endopeptidase activity	p.P154P(1)		central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GCTCTCCAACCCCCACGATCT	0.647000														26			22		0	0	0.003330	0	0
HMGB2	3148	broad.mit.edu	37	4	174254256	174254256	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:174254256C>T	uc011ckc.1	-	1	380	c.260G>A	c.(259-261)gGg>gAg	p.G87E	HMGB2_uc003ita.3_Missense_Mutation_p.G87E|HMGB2_uc003itb.2_Missense_Mutation_p.G87E	NM_001130689	NP_002120	P26583	HMGB2_HUMAN	Homo sapiens high mobility group box 2 (HMGB2), transcript variant 3, mRNA.	87					DNA fragmentation involved in apoptotic nuclear change|DNA topological change|V(D)J recombination|base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	DNA bending activity|RAGE receptor binding|chemoattractant activity|damaged DNA binding|double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		CTTTTTCTTCCCCTTCTTATC	0.403000														154			49		0	0	0.003610	0	0
ZNF536	9745	broad.mit.edu	37	19	31038981	31038981	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:31038981C>T	uc002nsu.1	+	3	2593	c.2455C>T	c.(2455-2457)Caa>Taa	p.Q819*	ZNF536_uc010edd.1_Nonsense_Mutation_p.Q819*	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	819					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ACCCCCAAATCAAGACCACAA	0.567000														47			42		0	0	0.003610	0	0
SETD8	387893	broad.mit.edu	37	12	123875206	123875206	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:123875206C>T	uc001uew.3	+	2	204	c.162C>T	c.(160-162)atC>atT	p.I54I		NM_020382	NP_065115	Q9NQR1	SETD8_HUMAN	Homo sapiens SET domain containing (lysine methyltransferase) 8 (SETD8), mRNA.	95	Ala-rich.				cell division|mitosis|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)		AGTCAAAGATCTATTCCTACA	0.448000														27			29		0	0	0.001512	0	0
ASPM	259266	broad.mit.edu	37	1	197061162	197061162	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:197061162G>A	uc001gtu.3	-	21	9576	c.9319C>T	c.(9319-9321)Cga>Tga	p.R3107*	ASPM_uc001gtv.3_Nonsense_Mutation_p.R1522*|ASPM_uc001gtw.4_Nonsense_Mutation_p.R955*	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	3107	IQ 37.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGAAGAAGTCGAATTTTGGCT	0.353000														7			20		0	0	0.003954	0	0
FCRLB	127943	broad.mit.edu	37	1	161693166	161693166	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:161693166A>G	uc001gbh.3	+	4	296	c.62A>G	c.(61-63)gAg>gGg	p.E21G	FCRLB_uc009wus.3_Missense_Mutation_p.E21G|FCRLB_uc001gbi.3_Missense_Mutation_p.E21G|FCRLB_uc001gbj.3_Missense_Mutation_p.E21G|FCRLB_uc001gbk.3_Missense_Mutation_p.E21G|FCRLB_uc001gbl.3_Missense_Mutation_p.E14G|FCRLB_uc001gbm.3_Missense_Mutation_p.E14G|FCRLB_uc001gbn.4_5'Flank	NM_001002901	NP_001002901	Q6BAA4	FCRLB_HUMAN	Homo sapiens Fc receptor-like B (FCRLB), mRNA.	21						endoplasmic reticulum				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			GCTACTCTGGAGAAGCCCATA	0.532000														93			28		0	0	0.005443	0	0
TRRAP	8295	broad.mit.edu	37	7	98562331	98562331	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:98562331C>T	uc003upp.3	+	46	7097	c.6888C>T	c.(6886-6888)tcC>tcT	p.S2296S	TRRAP_uc011kis.2_Silent_p.S2278S|TRRAP_uc003upr.3_Silent_p.S1995S	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	2296	Interaction with TP53.				histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TTATGCGCTCCCTGCAGAAGA	0.547000														25			30		0	0	0.002445	0	0
ACSM2A	123876	broad.mit.edu	37	16	20471532	20471532	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:20471532C>T	uc010bwe.3	+	2	335	c.96C>T	c.(94-96)tcC>tcT	p.S32S	ACSM2A_uc010bwd.1_Non-coding_Transcript|ACSM2A_uc010vax.1_Intron|ACSM2A_uc002dhf.4_Silent_p.S32S|ACSM2A_uc002dhg.4_Silent_p.S32S|ACSM2A_uc010vay.2_Intron	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	32					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	p.S32S(2)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						AACTGGTGTCCCTGCAGTGGG	0.512000														10			13		0	0	0.001368	0	0
OSCP1	127700	broad.mit.edu	37	1	36897417	36897417	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:36897417C>T	uc001caq.3	-	3	618	c.502G>A	c.(502-504)Gac>Aac	p.D168N	OSCP1_uc021olk.1_Missense_Mutation_p.D178N|OSCP1_uc001car.3_Missense_Mutation_p.D168N	NM_145047	NP_659484	Q8WVF1	OSCP1_HUMAN	Homo sapiens organic solute carrier partner 1 (OSCP1), transcript variant 1, mRNA.	178					transport	basal plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	22						ATGTGCAGGTCTTGGAAGAAG	0.532000														30			12		0	0	0.001855	0	0
DUS3L	56931	broad.mit.edu	37	19	5789614	5789614	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:5789614G>A	uc002mdc.3	-	2	601	c.504C>T	c.(502-504)ttC>ttT	p.F168F	DUS3L_uc002mdd.3_Intron|DUS3L_uc010xiw.1_Intron	NM_020175	NP_064560	Q96G46	DUS3L_HUMAN	Homo sapiens dihydrouridine synthase 3-like (S. cerevisiae) (DUS3L), transcript variant 1, mRNA.	168					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						GGCACCGGCCGAAGGTCTCGA	0.706000														7			5		0	0	0.000602	0	0
PLOD2	5352	broad.mit.edu	37	3	145804623	145804623	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:145804623C>T	uc003evr.1	-	9	1584	c.1078G>A	c.(1078-1080)Gta>Ata	p.V360I	PLOD2_uc003evq.1_5'Flank|PLOD2_uc011bnm.1_Missense_Mutation_p.V305I|PLOD2_uc003evs.1_Missense_Mutation_p.V360I	NM_182943	NP_891988	O00469	PLOD2_HUMAN	Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 (PLOD2), transcript variant 1, mRNA.	360					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	p.V360L(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	TCTGGTCCTACTATTTTTATA	0.254000														2			4		0	0	0.000602	0	0
OC90	729330	broad.mit.edu	37	8	133053841	133053841	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:133053841C>T	uc003ytg.2	-	2	227	c.227G>A	c.(226-228)cGa>cAa	p.R76Q	OC90_uc011lix.1_Missense_Mutation_p.R92Q	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	Homo sapiens otoconin 90 (OC90), mRNA.	92	Phospholipase A2-like 1.				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			TTCAAAGTCTCGGGGGCAGAG	0.527000														15			17		0	0	0.006122	0	0
GLYATL2	219970	broad.mit.edu	37	11	58602030	58602030	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:58602030C>T	uc001nnd.4	-	5	888	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	GLYATL2_uc009ymq.3_Missense_Mutation_p.E253K	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN	Homo sapiens glycine-N-acyltransferase-like 2 (GLYATL2), mRNA.	253						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	AATGGGATTTCTTTCTGAGAA	0.398000														27			27		0	0	0.001786	0	0
NWD1	284434	broad.mit.edu	37	19	16860010	16860010	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:16860010C>T	uc002neu.4	+	5	979	c.557C>T	c.(556-558)aCc>aTc	p.T186I	NWD1_uc002net.4_Missense_Mutation_p.T51I|NWD1_uc002nev.4_5'UTR|NWD1_uc021uqg.1_Missense_Mutation_p.T51I	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	186							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CAGGGAGCCACCGTCTTCCTT	0.572000														21			25		0	0	0.003954	0	0
WDR49	151790	broad.mit.edu	37	3	167196743	167196743	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:167196743C>T	uc003fev.1	-	14	2321	c.2017G>A	c.(2017-2019)Gaa>Aaa	p.E673K	WDR49_uc003feu.1_Missense_Mutation_p.E498K|WDR49_uc011bpd.1_Missense_Mutation_p.E638K|WDR49_uc003few.1_3'UTR	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	Homo sapiens WD repeat domain 49 (WDR49), mRNA.	673								p.K672K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TGCAGAATTTCCTTGGGAAAC	0.313000														6			11		0	0	0.000673	0	0
KRT83	3889	broad.mit.edu	37	12	52714916	52714916	+	Silent	SNP	G	A	A	rs148290789		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:52714916G>A	uc001saf.2	-	0	267	c.204C>T	c.(202-204)ttC>ttT	p.F68F		NM_002282	NP_002273	P78385	KRT83_HUMAN	Homo sapiens keratin 83 (KRT83), mRNA.	68	Head.				epidermis development	keratin filament	structural molecule activity	p.F68F(2)		NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		AGCGGTAGCCGAAGCTGCGTC	0.711000														30			14		0	0	0.001855	0	0
ANKRD27	84079	broad.mit.edu	37	19	33133038	33133038	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:33133038G>A	uc002ntn.1	-	9	952	c.796C>T	c.(796-798)Cgt>Tgt	p.R266C	ANKRD27_uc002nto.1_Missense_Mutation_p.R266C	NM_032139	NP_115515	Q96NW4	ANR27_HUMAN	Homo sapiens ankyrin repeat domain 27 (VPS9 domain) (ANKRD27), mRNA.	266	VPS9.				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					CTTTTGGCACGAGGTATGTTA	0.463000														54			47		0	0	0.003610	0	0
PLCL2	23228	broad.mit.edu	37	3	17052916	17052916	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:17052916G>T	uc011awc.2	+	2	2150	c.2054G>T	c.(2053-2055)tGg>tTg	p.W685L	PLCL2_uc011awd.2_Missense_Mutation_p.W567L	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	693	PI-PLC Y-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						CAAGATTTTTGGAAATGTGGT	0.408000														33			11		5.50884e-06	7.60122e-06	0.001368	1	0
FGG	2266	broad.mit.edu	37	4	155528082	155528082	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:155528082G>A	uc003ioj.3	-	7	1045	c.904C>T	c.(904-906)Cta>Tta	p.L302L	FGG_uc003iog.3_Silent_p.L302L	NM_021870	NP_068656	P02679	FIBG_HUMAN	Homo sapiens fibrinogen gamma chain (FGG), transcript variant gamma-B, mRNA.	302	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.R301H(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GCATATGTTAGGCGGTACTTG	0.478000														64			8		0	0	0.004482	0	0
DIAPH3	81624	broad.mit.edu	37	13	60348867	60348868	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:60348867_60348868GG>AA	uc001vht.3	-	25	3472_3473	c.3253_3254CC>TT	c.(3253-3255)cca>TTa	p.P1085L	DIAPH3_uc001vhu.3_Missense_Mutation_p.P822L	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	Homo sapiens diaphanous homolog 3 (Drosophila) (DIAPH3), transcript variant 1, mRNA.	1085	DAD.				actin cytoskeleton organization		Rho GTPase binding|actin binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		TTCACCTTTTGGCATCGGTGTC	0.450000														22			19		0	0	0.004672	0	0
LINGO4	339398	broad.mit.edu	37	1	151774811	151774811	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:151774811C>T	uc001ezf.1	-	1	560	c.370G>A	c.(370-372)Ggg>Agg	p.G124R	LINGO4_uc021oyu.1_Missense_Mutation_p.G124R	NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 4 (LINGO4), mRNA.	124						integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			ACCCCAGGCCCCATGATTCTG	0.587000														46			20		0	0	0.001523	0	0
INSR	3643	broad.mit.edu	37	19	7117139	7117139	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:7117139G>A	uc002mgd.1	-	21	4186	c.4077C>T	c.(4075-4077)atC>atT	p.I1359I	INSR_uc002mge.1_Silent_p.I1347I	NM_000208	NP_000199	P06213	INSR_HUMAN	Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	1359					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of MAPKKK cascade|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|PTB domain binding|SH2 domain binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|receptor signaling protein tyrosine kinase activity	p.I1359I(3)		breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GTGTGTAAGGGATGTGTTCCT	0.622000														163			154		0	0	0.003610	0	0
PKHD1	5314	broad.mit.edu	37	6	51612696	51612696	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:51612696G>A	uc003pah.1	-	57	9994	c.9718C>T	c.(9718-9720)Cga>Tga	p.R3240*	PKHD1_uc010jzn.1_Nonsense_Mutation_p.R1223*|PKHD1_uc003pai.3_Nonsense_Mutation_p.R3240*	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	3240					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	p.R3240Q(1)		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)					ATACCAATTCGACCTCCTCTT	0.478000														15			15		0	0	0.004990	0	0
POSTN	10631	broad.mit.edu	37	13	38160383	38160383	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:38160383A>G	uc001uwo.4	-	6	906	c.788T>C	c.(787-789)cTt>cCt	p.L263P	POSTN_uc001uwp.4_Missense_Mutation_p.L263P|POSTN_uc001uwr.3_Missense_Mutation_p.L263P|POSTN_uc001uwq.3_Missense_Mutation_p.L263P|POSTN_uc010teu.1_Missense_Mutation_p.L263P|POSTN_uc010tev.1_Missense_Mutation_p.L263P|POSTN_uc010tew.1_Missense_Mutation_p.L263P|POSTN_uc010tex.1_Missense_Mutation_p.L178P	NM_006475	NP_006466	Q15063	POSTN_HUMAN	Homo sapiens periostin, osteoblast specific factor (POSTN), transcript variant 1, mRNA.	263	FAS1 2.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		GTCTCTTCCAAGGGCCTCCAA	0.458000														24			11		0	0	0.001855	0	0
KRTAP4-12	83755	broad.mit.edu	37	17	39279796	39279796	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:39279796G>A	uc002hwa.3	-	0	624	c.579C>T	c.(577-579)ccC>ccT	p.P193P		NM_031854	NP_114060	Q9BQ66	KR412_HUMAN	Homo sapiens keratin associated protein 4-12 (KRTAP4-12), mRNA.	193						keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CACAGCACAAGGGGCGGGGGC	0.577000														6			9		0	0	0.001368	0	0
POLRMT	5442	broad.mit.edu	37	19	630055	630055	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:630055G>A	uc002lpf.1	-	2	363	c.307C>T	c.(307-309)Cca>Tca	p.P103S		NM_005035	NP_005026	O00411	RPOM_HUMAN	Homo sapiens polymerase (RNA) mitochondrial (DNA directed) (POLRMT), nuclear gene encoding mitochondrial protein, mRNA.	103					transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		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)		TTCCTGGGTGGCTGGAGGCTA	0.647000														31			49		0	0	0.003610	0	0
ZNF454	285676	broad.mit.edu	37	5	178392133	178392133	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:178392133C>T	uc003mjo.2	+	4	1029	c.728C>T	c.(727-729)cCc>cTc	p.P243L	ZNF454_uc010jkz.2_Missense_Mutation_p.P243L|ZNF454_uc021yjc.1_Missense_Mutation_p.P243L	NM_182594	NP_872400	Q8N9F8	ZN454_HUMAN	Homo sapiens zinc finger protein 454 (ZNF454), transcript variant 2, mRNA.	243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		GGCGAGAAACCCTATGAATGT	0.418000														48			61		0	0	0.003610	0	0
TNPO2	30000	broad.mit.edu	37	19	12822261	12822261	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:12822261C>T	uc002mup.3	-	9	1704	c.1242G>A	c.(1240-1242)gaG>gaA	p.E414E	TNPO2_uc002muq.3_Silent_p.E322E|TNPO2_uc002muo.3_Silent_p.E322E|TNPO2_uc002mur.3_Silent_p.E322E	NM_013433	NP_038461	O14787	TNPO2_HUMAN	Homo sapiens transportin 2 (TNPO2), transcript variant 2, mRNA.	322					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CAGCCTCATCCTCCTCCACAT	0.652000														37			28		0	0	0.002096	0	0
PCDH15	65217	broad.mit.edu	37	10	55616960	55616960	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:55616960C>T	uc010qhy.1	-	28	4191	c.3796G>A	c.(3796-3798)Gaa>Aaa	p.E1266K	PCDH15_uc010qhq.2_Missense_Mutation_p.E1266K|PCDH15_uc010qhr.2_Missense_Mutation_p.E1261K|PCDH15_uc021pqv.1_Missense_Mutation_p.E1261K|PCDH15_uc021pqw.1_Missense_Mutation_p.E1273K|PCDH15_uc010qht.2_Missense_Mutation_p.E1268K|PCDH15_uc021pqx.1_Missense_Mutation_p.E1261K|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.E1261K|PCDH15_uc021pqz.1_Missense_Mutation_p.E1239K|PCDH15_uc010qhv.1_Missense_Mutation_p.E1261K|PCDH15_uc010qhw.1_Missense_Mutation_p.E1224K|PCDH15_uc010qhx.1_Missense_Mutation_p.E1190K|PCDH15_uc010qhz.1_Missense_Mutation_p.E1261K|PCDH15_uc010qia.1_Missense_Mutation_p.E1239K|PCDH15_uc001jju.1_Missense_Mutation_p.E1261K|PCDH15_uc010qib.1_Missense_Mutation_p.E1239K	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1261					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ATCTTTTTTTCCACTAGAGTA	0.284000										HNSCC(58;0.16)				11			8		0	0	0.004482	0	0
CLEC4M	10332	broad.mit.edu	37	19	7832468	7832468	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:7832468C>T	uc010dvt.3	+	5	1121	c.1003C>T	c.(1003-1005)Cag>Tag	p.Q335*	CLEC4M_uc002mhy.2_3'UTR|CLEC4M_uc002mih.3_Nonsense_Mutation_p.Q312*|CLEC4M_uc010xjw.2_Nonsense_Mutation_p.Q268*|CLEC4M_uc010dvs.3_Nonsense_Mutation_p.Q311*|CLEC4M_uc010xjx.2_Nonsense_Mutation_p.Q284*|CLEC4M_uc002mhz.3_Intron|CLEC4M_uc002mic.3_Intron|CLEC4M_uc002mia.3_Nonsense_Mutation_p.Q199*	NM_001144909	NP_001138381	Q9H2X3	CLC4M_HUMAN	Homo sapiens C-type lectin domain family 4, member M (CLEC4M), transcript variant 9, mRNA.	335	C-type lectin.				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						AGACCTAAATCAGGAAGGCAC	0.557000														28			23		0	0	0.006320	0	0
SERPINI2	5276	broad.mit.edu	37	3	167189510	167189510	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:167189510G>A	uc003fes.1	-	1	214	c.143C>T	c.(142-144)tCc>tTc	p.S48F	SERPINI2_uc003fer.1_Missense_Mutation_p.S38F|SERPINI2_uc003fet.1_Missense_Mutation_p.S38F	NM_006217	NP_006208	O75830	SPI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (pancpin), member 2 (SERPINI2), mRNA.	38					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						ATGAGATAAGGAAACCTCTTG	0.393000														23			4		0	0	0.000248	0	0
PCLO	27445	broad.mit.edu	37	7	82585431	82585431	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:82585431C>T	uc003uhx.2	-	4	5127	c.4838G>A	c.(4837-4839)cGa>cAa	p.R1613Q	PCLO_uc003uhv.2_Missense_Mutation_p.R1613Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1544					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.R1613R(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						GCTACTTTTTCGAGTCAGTCG	0.418000														95			73		0	0	0.003610	0	0
ZCCHC16	340595	broad.mit.edu	37	X	111698717	111698717	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:111698717A>T	uc022cct.1	+	0	761	c.761A>T	c.(760-762)aAa>aTa	p.K254I	ZCCHC16_uc004epo.1_Missense_Mutation_p.K254I	NM_001004308	NP_001004308	Q6ZR62	ZCH16_HUMAN	Homo sapiens zinc finger, CCHC domain containing 16 (ZCCHC16), mRNA.	254							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						CCACCCAAGAAAGGGCCTATA	0.572000														3			71		0	0	0.003610	0	0
PPFIA1	8500	broad.mit.edu	37	11	70171015	70171015	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:70171015G>A	uc001opo.3	+	3	644	c.429G>A	c.(427-429)gtG>gtA	p.V143V	PPFIA1_uc001opn.2_Silent_p.V143V|PPFIA1_uc001opp.3_Non-coding_Transcript|PPFIA1_uc001opq.1_5'Flank	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 (PPFIA1), transcript variant 2, mRNA.	143					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	p.T142T(1)		breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GGATGACCGTGGTGAAGAGAC	0.473000														82			67		0	0	0.003610	0	0
UGT1A1	54658	broad.mit.edu	37	2	234545727	234545727	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:234545727C>T	uc002vur.3	+	0	605	c.559C>T	c.(559-561)Ctt>Ttt	p.L187F	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Missense_Mutation_p.L187F	NM_019075	NP_061948	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A10 (UGT1A10), mRNA.	190					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	CCCTGCTCCTCTTTCCTATGT	0.463000														47			73		0	0	0.003610	0	0
ICA1	3382	broad.mit.edu	37	7	8167582	8167583	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:8167582_8167583GG>AA	uc003sro.4	-	12	1386_1387	c.1250_1251CC>TT	c.(1249-1251)ccc>cTT	p.P417L	ICA1_uc010ktr.3_Missense_Mutation_p.P446L|ICA1_uc003srm.3_Missense_Mutation_p.P417L|ICA1_uc003srn.4_Missense_Mutation_p.P343L|ICA1_uc003srq.3_Missense_Mutation_p.P417L|ICA1_uc003srr.3_Missense_Mutation_p.P416L|ICA1_uc010kts.3_Non-coding_Transcript	NM_001136020	NP_071682	Q05084	ICA69_HUMAN	Homo sapiens islet cell autoantigen 1, 69kDa (ICA1), mRNA.	417					neurotransmitter transport	Golgi membrane|cell junction|cytosol|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		TCTGGGCCTTGGGGTCTGGCTC	0.550000														6			100		0	0	0.004672	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20874878	20874878	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:20874878G>A	uc010sii.2	+	8	1271	c.916G>A	c.(916-918)Gag>Aag	p.E306K	SLCO1C1_uc010sij.2_Missense_Mutation_p.E257K|SLCO1C1_uc009zip.3_Missense_Mutation_p.E140K|SLCO1C1_uc001rei.3_Missense_Mutation_p.E306K|SLCO1C1_uc010sik.2_Missense_Mutation_p.E188K	NM_001145946	NP_001139416	Q9NYB5	SO1C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1C1 (SLCO1C1), transcript variant 1, mRNA.	306					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					CCAAAGTAGAGAGGATTCTAA	0.403000														9			12		0	0	0.001855	0	0
SLC18B1	116843	broad.mit.edu	37	6	133118188	133118188	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:133118188G>A	uc003qdw.1	-	1	268	c.116C>T	c.(115-117)tCg>tTg	p.S39L	SLC18B1_uc011eco.1_5'UTR	NM_052831	NP_439896	Q6NT16	CF192_HUMAN	Homo sapiens chromosome 6 open reading frame 192 (C6orf192), mRNA.	39					transmembrane transport	integral to membrane											CGAAGCTGCCGATATCAGTAC	0.458000														65			57		0	0	0.003610	0	0
SSU72	29101	broad.mit.edu	37	1	1480294	1480294	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:1480294A>T	uc001agd.3	-	2	638	c.313T>A	c.(313-315)Ttt>Att	p.F105I	SSU72_uc009vkg.1_Missense_Mutation_p.F105I	NM_014188	NP_054907	Q9NP77	SSU72_HUMAN	Homo sapiens SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae) (SSU72), mRNA.	105					mRNA processing	cytoplasm|nucleus	phosphoprotein phosphatase activity			large_intestine(2)|lung(5)	7	all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.03e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		ATCAGATCAAACAGGTCTTTG	0.517000														59			103		0	0	0.003610	0	0
LRP5	4041	broad.mit.edu	37	11	68216449	68216449	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:68216449G>A	uc001ont.3	+	22	4834	c.4759G>A	c.(4759-4761)Gag>Aag	p.E1587K	LRP5_uc009ysg.3_Missense_Mutation_p.E997K	NM_002335	NP_002326	O75197	LRP5_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.	1587	Pro-rich.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCTGTCGGCGGAGGACAGCTG	0.677000														40			19		0	0	0.001216	0	0
LRFN1	57622	broad.mit.edu	37	19	39798444	39798444	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:39798444C>T	uc002okw.2	-	1	2145	c.2145G>A	c.(2143-2145)caG>caA	p.Q715Q		NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 1 (LRFN1), mRNA.	715						cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			AACTGTGGCTCTGGAATAGTG	0.731000														11			6		0	0	0.001168	0	0
CD22	933	broad.mit.edu	37	19	35827111	35827111	+	Silent	SNP	C	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:35827111C>A	uc010edt.3	+	3	669	c.585C>A	c.(583-585)atC>atA	p.I195I	CD22_uc010edu.3_Silent_p.I195I|CD22_uc010edv.3_Silent_p.I195I|CD22_uc002nzb.4_Silent_p.I195I|CD22_uc010xst.2_Silent_p.I23I|CD22_uc010edx.3_5'Flank	NM_001771	NP_001762	P20273	CD22_HUMAN	Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	195	Ig-like C2-type 1.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	CCTTGACCATCAAGTCTGTCT	0.547000														28			29		1.75199e-13	2.44513e-13	0.007291	1	0
UTRN	7402	broad.mit.edu	37	6	144835845	144835845	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:144835845C>T	uc003qkt.3	+	35	5225	c.5133C>T	c.(5131-5133)gcC>gcT	p.A1711A		NM_007124	NP_009055	P46939	UTRO_HUMAN	Homo sapiens utrophin (UTRN), mRNA.	1711	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	p.Q1710*(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GCGATCAAGCCCTTATTTTGA	0.408000														50			46		0	0	0.003610	0	0
SOGA2	23255	broad.mit.edu	37	18	8798140	8798140	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:8798140C>T	uc002knr.2	+	9	2429	c.2287C>T	c.(2287-2289)Cag>Tag	p.Q763*	SOGA2_uc002knq.2_Nonsense_Mutation_p.Q722*|SOGA2_uc002kns.2_Nonsense_Mutation_p.Q93*	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	Homo sapiens coiled-coil domain containing 165 (CCDC165), mRNA.	1073																	GCTTGGAGTCCAGGGGGGTCA	0.602000														16			19		0	0	0.001216	0	0
KNG1	3827	broad.mit.edu	37	3	186435437	186435437	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:186435437G>A	uc011bsa.2	+	0	340	c.106G>A	c.(106-108)Gct>Act	p.A36T	KNG1_uc003fqr.3_Missense_Mutation_p.A36T|KNG1_uc021xil.1_Missense_Mutation_p.A36T	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	Homo sapiens kininogen 1 (KNG1), transcript variant 1, mRNA.	36	Cystatin 1.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	TTTATTTAAAGCTGTGGATGC	0.403000														32			13		0	0	0.001368	0	0
CXorf57	55086	broad.mit.edu	37	X	105876182	105876182	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:105876182C>T	uc004emi.4	+	4	1260	c.1109C>T	c.(1108-1110)cCa>cTa	p.P370L	CXorf57_uc004emj.4_Missense_Mutation_p.P370L|CXorf57_uc004emh.2_Missense_Mutation_p.P370L	NM_018015	NP_060485	Q6NSI4	CX057_HUMAN	Homo sapiens chromosome X open reading frame 57 (CXorf57), transcript variant 1, mRNA.	370										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						GATGATATGCCAGAAAATTGC	0.279000														1			47		0	0	0.003610	0	0
DERL2	51009	broad.mit.edu	37	17	5378037	5378037	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:5378037G>A	uc002gcc.1	-	6	700	c.687C>T	c.(685-687)ttC>ttT	p.F229F		NM_016041	NP_057125	Q9GZP9	DERL2_HUMAN	Homo sapiens Der1-like domain family, member 2 (DERL2), mRNA.	229					ER-associated protein catabolic process|endoplasmic reticulum unfolded protein response|positive regulation of cell growth|positive regulation of cell proliferation|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	protein binding			large_intestine(3)	3						CACCCCAGGCGAAGCCTCCTG	0.488000														56			25		0	0	0.001786	0	0
MYL7	58498	broad.mit.edu	37	7	44179140	44179140	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:44179140C>T	uc003tkg.3	-	5	418	c.406G>A	c.(406-408)Gac>Aac	p.D136N		NM_021223	NP_067046	Q01449	MLRA_HUMAN	Homo sapiens myosin, light chain 7, regulatory (MYL7), mRNA.	136	EF-hand 2.				actin filament-based movement|smooth muscle contraction	A band|myosin complex	ATPase activity, coupled|calcium ion binding|microfilament motor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	12						GAGAACTTGTCTGCCTGGGTC	0.617000														3			77		0	0	0.003610	0	0
GPR61	83873	broad.mit.edu	37	1	110085928	110085928	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:110085928C>T	uc021orh.1	+	0	284	c.284C>T	c.(283-285)cCc>cTc	p.P95L	GPR61_uc001dxy.2_Missense_Mutation_p.P95L	NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN	Homo sapiens G protein-coupled receptor 61 (GPR61), mRNA.	95						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		ACCCTCATGCCCCTGGCCATG	0.612000														85			22		0	0	0.002780	0	0
NEFM	4741	broad.mit.edu	37	8	24775240	24775240	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:24775240G>A	uc003xed.4	+	2	1905	c.1872G>A	c.(1870-1872)gaG>gaA	p.E624E	NEFM_uc011lac.1_Intron|NEFM_uc010lue.3_Silent_p.E248E	NM_005382	NP_005373	P07197	NFM_HUMAN	Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA.	624	6 X 13 AA approximate tandem repeats of K-S-P-V-[PS]-K-S-P-V-E-E-[KA]-[GAK].|Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CAGTGGAAGAGAAAGGCAAGT	0.532000														9			14		0	0	0.004007	0	0
KCNK10	54207	broad.mit.edu	37	14	88729587	88729587	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:88729587G>A	uc001xwm.3	-	1	483	c.361C>T	c.(361-363)Cat>Tat	p.H121Y	KCNK10_uc001xwn.3_Missense_Mutation_p.H121Y|KCNK10_uc001xwo.3_Missense_Mutation_p.H116Y	NM_138318	NP_612191	P57789	KCNKA_HUMAN	Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA.	116					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						ACACAGACATGATCCCGCAGG	0.577000														21			17		0	0	0.007413	0	0
ILDR2	387597	broad.mit.edu	37	1	166905895	166905895	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:166905895G>A	uc001gdx.2	-	4	692	c.636C>T	c.(634-636)tgC>tgT	p.C212C		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 2 (ILDR2), mRNA.	212	Cys-rich.					integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						AGCTGTGAGGGCAGCACTGGC	0.597000														22			8		0	0	0.003080	0	0
EFNA2	1943	broad.mit.edu	37	19	1299911	1299911	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:1299911C>T	uc002lry.2	+	3	624	c.609C>T	c.(607-609)acC>acT	p.T203T		NM_001405	NP_001396	O43921	EFNA2_HUMAN	Homo sapiens ephrin-A2 (EFNA2), mRNA.	203					cell-cell signaling	anchored to membrane|plasma membrane	ephrin receptor binding			lung(2)	2		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCTCAGCACCATCCCCGTGC	0.692000														10			7		0	0	0.003080	0	0
DNMT3L	29947	broad.mit.edu	37	21	45679336	45679336	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr21:45679336T>A	uc002zeg.1	-	4	812	c.328A>T	c.(328-330)Aac>Tac	p.N110Y	DNMT3L_uc002zeh.1_Missense_Mutation_p.N110Y	NM_175867	NP_787063	Q9UJW3	DNM3L_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3-like (DNMT3L), transcript variant 2, mRNA.	110	ADD.				DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		CAATCAGGGTTTCCGCAGATG	0.597000														30			21		0	0	0.002780	0	0
UMOD	7369	broad.mit.edu	37	16	20352594	20352594	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:20352594G>A	uc002dhb.3	-	7	1624	c.1495C>T	c.(1495-1497)Cct>Tct	p.P499S	UMOD_uc002dgz.3_Missense_Mutation_p.P466S|UMOD_uc002dha.3_Missense_Mutation_p.P466S	NM_003361	NP_003352	P07911	UROM_HUMAN	Homo sapiens uromodulin (UMOD), transcript variant 1, mRNA.	466	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	p.P466T(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GTGTAGGAAGGGGTCTGGAAG	0.612000														20			13		0	0	0.001368	0	0
FAM71A	149647	broad.mit.edu	37	1	212798835	212798835	+	RNA	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:212798835G>A	uc010pth.1	-	0		c.1279C>T			FAM71A_uc001hjk.3_Missense_Mutation_p.G206R			Q8IYT1	FA71A_HUMAN	Homo sapiens cDNA FLJ40118 fis, clone TESTI2009412.											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		GAGGAGCCTGGGAGCCGTGAA	0.567000														21			45		0	0	0.001951	0	0
LAMA1	284217	broad.mit.edu	37	18	6992673	6992673	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:6992673G>A	uc002knm.3	-	35	5149	c.5055C>T	c.(5053-5055)ttC>ttT	p.F1685F	LAMA1_uc010wzj.2_Silent_p.F1161F	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	1685	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGGGTAGTAGGAAATCTTCAT	0.353000														26			12		0	0	0.001855	0	0
SLFN12	55106	broad.mit.edu	37	17	33747358	33747358	+	Missense_Mutation	SNP	G	C	C	rs147654371	byFrequency	TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:33747358G>C	uc002hji.4	-	2	1459	c.1082C>G	c.(1081-1083)aCg>aGg	p.T361R	SLFN12_uc002hjj.4_Missense_Mutation_p.T361R|SLFN12_uc010cts.3_Missense_Mutation_p.T361R	NM_018042	NP_060512	Q8IYM2	SLN12_HUMAN	Homo sapiens schlafen family member 12 (SLFN12), mRNA.	361				T -> A (in Ref. 1; BAA91512).			ATP binding			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGGTAATGACGTATTTATTTG	0.398000														19			17		0	0	0.001882	0	0
PCSK5	5125	broad.mit.edu	37	9	78711007	78711007	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:78711007G>A	uc004akc.2	+	7	1634	c.1096G>A	c.(1096-1098)Gat>Aat	p.D366N	PCSK5_uc004ajy.2_Missense_Mutation_p.D366N|PCSK5_uc004ajz.3_Missense_Mutation_p.D366N|PCSK5_uc004aka.3_Non-coding_Transcript	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	366	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GGAGTCCTACGATAAGAAAAT	0.428000														15			6		0	0	0.001984	0	0
IRAK2	3656	broad.mit.edu	37	3	10280672	10280672	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:10280672G>A	uc003bve.1	+	11	1790	c.1714G>A	c.(1714-1716)Gag>Aag	p.E572K		NM_001570	NP_001561	O43187	IRAK2_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 2 (IRAK2), mRNA.	572					I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						CGTGGGAAGGGAGGCTGACTC	0.617000														24			11		0	0	0.000978	0	0
FNBP1	23048	broad.mit.edu	37	9	132720823	132720823	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:132720823C>T	uc004byw.1	-	4	574	c.355G>A	c.(355-357)Gat>Aat	p.D119N	FNBP1_uc011mbv.1_Missense_Mutation_p.D119N|FNBP1_uc011mbw.1_Missense_Mutation_p.D119N|FNBP1_uc004bza.2_Missense_Mutation_p.D119N|FNBP1_uc004byz.1_Missense_Mutation_p.D119N|FNBP1_uc004byx.1_Missense_Mutation_p.D40N|FNBP1_uc004byy.1_Missense_Mutation_p.D40N	NM_015033	NP_055848	Q96RU3	FNBP1_HUMAN	Homo sapiens formin binding protein 1 (FNBP1), mRNA.	119	Interaction with microtubules (By similarity).|Self-association, lipid-binding and induction of membrane tubulation.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		TTACGGCCATCGTGAAAGTTC	0.418000			T	MLL	AML									3			11		0	0	0.000673	0	0
ZNF845	91664	broad.mit.edu	37	19	53854516	53854516	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:53854516C>T	uc010ydv.1	+	3	705	c.588C>T	c.(586-588)ttC>ttT	p.F196F	ZNF845_uc010ydw.1_Silent_p.F196F	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GGAATAATTTCCTGAATTCTT	0.363000														38			11		0	0	0.000673	0	0
GIMAP8	155038	broad.mit.edu	37	7	150171516	150171516	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:150171516G>A	uc003whj.3	+	3	1429	c.1099G>A	c.(1099-1101)Gaa>Aaa	p.E367K		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	367						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TACCAGGAAAGAAGATTTAGG	0.378000														65			45		0	0	0.003610	0	0
AKR1A1	10327	broad.mit.edu	37	1	46034238	46034238	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:46034238C>T	uc021omx.1	+	7	1052	c.634C>T	c.(634-636)Cct>Tct	p.P212S	AKR1A1_uc021omy.1_Missense_Mutation_p.P212S|AKR1A1_uc001cod.3_Missense_Mutation_p.P212S|AKR1A1_uc001coe.3_Missense_Mutation_p.P212S|AKR1A1_uc001cof.3_Intron	NM_001202414	NP_001189343	P14550	AK1A1_HUMAN	Homo sapiens aldo-keto reductase family 1, member A1 (aldehyde reductase) (AKR1A1), transcript variant 3, mRNA.	212					glucose metabolic process		alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			lung(3)|prostate(1)|urinary_tract(1)	5	Acute lymphoblastic leukemia(166;0.155)					TGCTTATAGCCCTTTGGGCTC	0.537000														44			12		0	0	0.000978	0	0
LAMB3	3914	broad.mit.edu	37	1	209797291	209797291	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:209797291G>A	uc001hhg.3	-	13	2421	c.2031C>T	c.(2029-2031)tcC>tcT	p.S677S	LAMB3_uc009xco.3_Silent_p.S677S|LAMB3_uc001hhh.3_Silent_p.S677S|LAMB3_uc010psl.1_Non-coding_Transcript|MIR4260_uc021pil.1_5'Flank	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	677	Domain II.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CTCTCGGAAGGGACAACGTCT	0.502000														16			31		0	0	0.003755	0	0
MAP3K9	4293	broad.mit.edu	37	14	71215635	71215635	+	Missense_Mutation	SNP	C	T	T	rs66654995		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:71215635C>T	uc001xmm.3	-	4	1237	c.1237G>A	c.(1237-1239)Gaa>Aaa	p.E413K	MAP3K9_uc010ttk.2_Missense_Mutation_p.E150K|MAP3K9_uc001xmk.3_Missense_Mutation_p.E107K|MAP3K9_uc001xml.3_Missense_Mutation_p.E413K	NM_033141	NP_149132	P80192	M3K9_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.	413					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		TTGGGCATTTCAAAGAAACCA	0.473000														80			62		0	0	0.003610	0	0
COL4A1	1282	broad.mit.edu	37	13	110831666	110831666	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:110831666G>A	uc001vqw.4	-	29	2418	c.2296C>T	c.(2296-2298)Cct>Tct	p.P766S		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	766	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TGTTCTCCAGGAACGCCTGGT	0.577000														40			35		0	0	0.003755	0	0
STAP1	26228	broad.mit.edu	37	4	68447023	68447023	+	Splice_Site	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:68447023C>T	uc003hde.4	+	5	446	c.364_splice	c.e5-1	p.L122_splice	STAP1_uc003hdf.3_Splice_Site_p.L122_splice	NM_012108	NP_036240	Q9ULZ2	STAP1_HUMAN	Homo sapiens signal transducing adaptor family member 1 (STAP1), mRNA.	122					cellular membrane fusion|intracellular protein transport	cytoplasm				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						TTGGTTTCAGCTGTCAGTTCC	0.423000														19			24		0	0	0.006320	0	0
FLT3	2322	broad.mit.edu	37	13	28597538	28597538	+	Silent	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:28597538A>G	uc001urw.3	-	18	2449	c.2367T>C	c.(2365-2367)ctT>ctC	p.L789L	FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Silent_p.L789L	NM_004119	NP_004110	P36888	FLT3_HUMAN	Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	789	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	p.L788I(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	ATGCAAAGCAAAGAAGATCTT	0.333000			"""Mis, O"""		"""AML, ALL"""									28			26		0	0	0.006320	0	0
AX747261	0	broad.mit.edu	37	9	99883957	99883957	+	RNA	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:99883957G>A	uc004aww.1	-	1		c.1837C>T								Homo sapiens cDNA FLJ34611 fis, clone KIDNE2014112.																		GACAGAAGAGGGCCCCTCGGC	0.582000														6			4		0	0	0.000602	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	C	C	rs11554290		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:115256529T>C	uc009wgu.3	-	2	436	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				37			85		0	0	0.003610	0	0
ADH1C	126	broad.mit.edu	37	4	100260829	100260829	+	RNA	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:100260829A>G	uc021xqi.1	-	7		c.1093T>C				NM_000669		P00326	ADH1G_HUMAN	Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA.						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	TCTTAGCCATAAAGTCAGCCA	0.348000														36			74		0	0	0.003610	0	0
GALNTL1	57452	broad.mit.edu	37	14	69818812	69818812	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:69818812C>T	uc001xlb.2	+	14	1931	c.1604C>T	c.(1603-1605)cCt>cTt	p.P535L	GALNTL1_uc010aqu.2_Missense_Mutation_p.P535L	NM_020692	NP_065743	Q8N428	GLTL1_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1 (GALNTL1), transcript variant 2, mRNA.	535	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|stomach(2)	24				all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656)		GAGACAAAGCCTGCCCAGCTG	0.567000														27			23		0	0	0.002299	0	0
ANXA10	11199	broad.mit.edu	37	4	169049259	169049259	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:169049259C>T	uc003irm.3	+	1	207	c.43C>T	c.(43-45)Ccc>Tcc	p.P15S		NM_007193	NP_009124	Q9UJ72	ANX10_HUMAN	Homo sapiens annexin A10 (ANXA10), mRNA.	15							calcium ion binding|calcium-dependent phospholipid binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		CTTCCCAGCTCCCAATTTCAA	0.403000														16			32		0	0	0.005524	0	0
CLSTN2	64084	broad.mit.edu	37	3	140140054	140140054	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:140140054C>T	uc003etn.3	+	4	915	c.725C>T	c.(724-726)cCc>cTc	p.P242L	CLSTN2_uc003etm.2_Missense_Mutation_p.P242L	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	242	Cadherin 2.				homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GGACAGAAGCCCGCTGCTCAG	0.542000										HNSCC(16;0.037)				34			64		0	0	0.003610	0	0
abParts	0	broad.mit.edu	37	14	107122266	107122266	+	RNA	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:107122266C>T	uc021ser.1	-	86		c.4024G>A								Parts of antibodies, mostly variable regions.																		ACTCCAGCCCCTTTCCTGGAG	0.522000														9			15		0	0	0.002450	0	0
ZC3H4	23211	broad.mit.edu	37	19	47570064	47570065	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:47570064_47570065GG>AA	uc002pga.4	-	14	3498_3499	c.3460_3461CC>TT	c.(3460-3462)ccc>TTc	p.P1154F	ZC3H4_uc002pgb.1_Non-coding_Transcript	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	Homo sapiens zinc finger CCCH-type containing 4 (ZC3H4), mRNA.	1154							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CCCCGCGTTGGGAGTCCTCGGG	0.698000														9			8		0	0	0.004672	0	0
DNAH3	55567	broad.mit.edu	37	16	20955837	20955837	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:20955837C>T	uc010vbe.2	-	57	11492	c.11492G>A	c.(11491-11493)gGa>gAa	p.G3831E	DNAH3_uc010vbd.2_Missense_Mutation_p.G1266E	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3831					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTTGCCACTTCCTCCTGACTG	0.557000														57			36		0	0	0.006999	0	0
WSCD1	23302	broad.mit.edu	37	17	6012932	6012932	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:6012932C>T	uc010cli.3	+	5	1234	c.855C>T	c.(853-855)ttC>ttT	p.F285F	WSCD1_uc002gcn.3_Silent_p.F285F|WSCD1_uc002gco.3_Silent_p.F285F|WSCD1_uc010clj.3_5'UTR	NM_015253	NP_056068	Q658N2	WSCD1_HUMAN	Homo sapiens WSC domain containing 1 (WSCD1), mRNA.	285	WSC 2.					integral to membrane	sulfotransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						GGCAGGAGTTCCCCTTGGCCA	0.552000														64			101		0	0	0.003610	0	0
ERBB4	2066	broad.mit.edu	37	2	212293132	212293132	+	Splice_Site	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:212293132C>T	uc002veg.1	-	22	2817	c.2719_splice	c.e22+1	p.G907_splice	ERBB4_uc002veh.1_Splice_Site_p.G907_splice|ERBB4_uc010zji.1_Splice_Site_p.G897_splice|ERBB4_uc010zjj.1_Splice_Site_p.G897_splice	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	907	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GATTTATTTACCATAGCTCCA	0.308000										TSP Lung(8;0.080)				42			11		0	0	0.001368	0	0
DENND4C	55667	broad.mit.edu	37	9	19316414	19316414	+	Splice_Site	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:19316414G>A	uc003znq.3	+	7	860	c.780_splice	c.e7-1	p.V260_splice	DENND4C_uc011lnc.2_Splice_Site	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN	Homo sapiens DENN/MADD domain containing 4C (DENND4C), mRNA.	260						integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TGATTTAATAGATCAGATGAA	0.323000														15			4		0	0	0.000248	0	0
SCN10A	6336	broad.mit.edu	37	3	38798189	38798189	+	Silent	SNP	G	A	A	rs143438557	by1000genomes	TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:38798189G>A	uc003ciq.3	-	8	1266	c.1266C>T	c.(1264-1266)ctC>ctT	p.L422L		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	422					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GGAGCATCTCGAGGGCCTCCT	0.498000														30			62		0	0	0.003610	0	0
ITGA1	3672	broad.mit.edu	37	5	52145236	52145236	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:52145236G>A	uc003jou.3	+	1	513	c.99G>A	c.(97-99)gtG>gtA	p.V33V	ITGA1_uc003jov.3_Non-coding_Transcript	NM_181501	NP_852478	P56199	ITA1_HUMAN	Homo sapiens integrin, alpha 1 (ITGA1), mRNA.	33					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				ATGTTGATGTGAAAAATTCAA	0.368000														17			21		0	0	0.002299	0	0
MYL2	4633	broad.mit.edu	37	12	111350910	111350910	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:111350910G>A	uc001try.4	-	5	463	c.392C>T	c.(391-393)tCc>tTc	p.S131F	MYL2_uc001trx.4_Missense_Mutation_p.S112F	NM_000432	NP_000423	P10916	MLRV_HUMAN	Homo sapiens myosin, light chain 2, regulatory, cardiac, slow (MYL2), mRNA.	131	EF-hand 3.				cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						CTCCTCCTTGGAAAACCTCTC	0.587000														19			25		0	0	0.007291	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7675985	7675985	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:7675985C>T	uc002mgu.4	+	10	1236	c.1135C>T	c.(1135-1137)Cct>Tct	p.P379S	CAMSAP3_uc002mgv.4_Missense_Mutation_p.P352S	NM_001080429	NP_001073898	Q9P1Y5	CAMP3_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 3 (CAMSAP3), transcript variant 1, mRNA.	352					epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						GTACAGTTCTCCTGTCTTCAC	0.642000														41			37		0	0	0.006999	0	0
MPND	84954	broad.mit.edu	37	19	4355162	4355162	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:4355162G>A	uc002mae.3	+	7	1055	c.988G>A	c.(988-990)Gaa>Aaa	p.E330K	MPND_uc010dtx.2_Non-coding_Transcript|MPND_uc002mag.3_Intron	NM_032868	NP_116257	Q8N594	MPND_HUMAN	Homo sapiens MPN domain containing (MPND), transcript variant 1, mRNA.	330	MPN.						peptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCTGCCATCGAAGAGGAGGT	0.652000														13			11		0	0	0.000978	0	0
EFCAB6	64800	broad.mit.edu	37	22	43976365	43976365	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:43976365G>A	uc003bdy.2	-	24	3521	c.3207C>T	c.(3205-3207)tcC>tcT	p.S1069S	EFCAB6_uc003bdz.2_Silent_p.S917S|EFCAB6_uc010gzi.2_Silent_p.S917S|EFCAB6_uc010gzj.1_Silent_p.S295S	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	1069	EF-hand 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CCAGCTGGGAGGACTCAACTA	0.493000														58			46		0	0	0.003610	0	0
EPHA6	285220	broad.mit.edu	37	3	96706525	96706525	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:96706525C>T	uc010how.1	+	2	845	c.802C>T	c.(802-804)Cgt>Tgt	p.R268C	EPHA6_uc003drp.1_Missense_Mutation_p.R268C	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	173						integral to plasma membrane	ATP binding|ephrin receptor activity	p.R174C(3)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CACTGAAATTCGTGAGGTGGG	0.443000														53			95		0	0	0.003610	0	0
ZPLD1	131368	broad.mit.edu	37	3	102187901	102187901	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:102187901G>A	uc003dvt.1	+	7	1003	c.903G>A	c.(901-903)aaG>aaA	p.K301K	ZPLD1_uc003dvs.1_Silent_p.K285K|ZPLD1_uc011bhg.1_Silent_p.K285K	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	Homo sapiens zona pellucida-like domain containing 1 (ZPLD1), mRNA.	285	ZP.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						TGAAACACAAGAATCAGAAAA	0.473000														11			33		0	0	0.002445	0	0
SERPINB7	8710	broad.mit.edu	37	18	61465975	61465975	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:61465975C>T	uc002ljl.3	+	5	688	c.592C>T	c.(592-594)Ccc>Tcc	p.P198S	SERPINB7_uc002ljm.3_Missense_Mutation_p.P198S|SERPINB7_uc010xet.2_Missense_Mutation_p.P181S|SERPINB7_uc010dqg.3_Missense_Mutation_p.P198S	NM_001040147	NP_003775	O75635	SPB7_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA.	198					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				TTTCAAATCTCCCAAGGTATG	0.413000														22			7		0	0	0.003080	0	0
WTAP	9589	broad.mit.edu	37	6	160163129	160163129	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:160163129A>T	uc003qsl.3	+	3	318	c.96A>T	c.(94-96)caA>caT	p.Q32H	WTAP_uc010kjx.3_Missense_Mutation_p.Q32H|WTAP_uc003qsk.3_Missense_Mutation_p.Q32H|WTAP_uc003qsn.3_Missense_Mutation_p.Q32H	NM_004906	NP_004897	Q15007	FL2D_HUMAN	Homo sapiens Wilms tumor 1 associated protein (WTAP), transcript variant 1, mRNA.	32					RNA splicing|cell cycle|mRNA processing	nuclear membrane|nucleolus				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		GATGGAAACAATATGAAGCAT	0.279000														22			29		0	0	0.002836	0	0
MAN2B2	23324	broad.mit.edu	37	4	6596336	6596336	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:6596336C>T	uc003gjf.1	+	6	970	c.934C>T	c.(934-936)Cat>Tat	p.H312Y	MAN2B2_uc003gje.1_Missense_Mutation_p.H312Y|MAN2B2_uc011bwf.1_Intron	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 2 (MAN2B2), mRNA.	312					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						CATCAACAGCCATGCTGCCGA	0.602000														7			12		0	0	0.001855	0	0
TMEM2	23670	broad.mit.edu	37	9	74349902	74349902	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:74349902G>A	uc011lsa.1	-	5	1753	c.1213C>T	c.(1213-1215)Ctt>Ttt	p.L405F	TMEM2_uc010mos.2_Intron|TMEM2_uc011lsb.1_Non-coding_Transcript	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	Homo sapiens transmembrane protein 2 (TMEM2), transcript variant 1, mRNA.	405						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		AATCCTGAAAGAGAAACGCCT	0.368000														22			28		0	0	0.004656	0	0
TANC1	85461	broad.mit.edu	37	2	160076229	160076229	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:160076229G>A	uc002uag.3	+	21	3803	c.3529G>A	c.(3529-3531)Gag>Aag	p.E1177K	TANC1_uc010zcm.2_Missense_Mutation_p.E1169K|TANC1_uc010fom.1_Missense_Mutation_p.E983K|TANC1_uc010fon.3_Missense_Mutation_p.E21K	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 (TANC1), transcript variant 1, mRNA.	1177						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TCTAGACAAAGAGGGTCTGTC	0.458000														16			31		0	0	0.001786	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92848520	92848520	+	Silent	SNP	A	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:92848520A>T	uc011khy.2	-	2	416	c.393T>A	c.(391-393)ctT>ctA	p.L131L	HEPACAM2_uc003uml.3_Silent_p.L96L|HEPACAM2_uc010lff.3_Silent_p.L96L|HEPACAM2_uc003umm.3_Silent_p.L108L	NM_198151	NP_937794	A8MVW5	HECA2_HUMAN	Homo sapiens HEPACAM family member 2 (HEPACAM2), transcript variant 2, mRNA.	108						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						GTGGGTTGATAAGCAGAGATG	0.458000														14			12		0	0	0.001855	0	0
CMTM7	112616	broad.mit.edu	37	3	32491028	32491028	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:32491028G>T	uc003cey.1	+	2	652	c.416G>T	c.(415-417)gGa>gTa	p.G139V	CMTM7_uc003cez.1_Intron	NM_138410	NP_612419	Q96FZ5	CKLF7_HUMAN	Homo sapiens CKLF-like MARVEL transmembrane domain containing 7 (CMTM7), transcript variant 1, mRNA.	139	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|large_intestine(1)|lung(2)	4						AACCAGAGCGGACTGGTAGCC	0.493000														43			20		1.96292e-10	2.73072e-10	0.001523	1	0
MME	4311	broad.mit.edu	37	3	154802032	154802032	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:154802032C>T	uc010hvr.1	+	1	287	c.76C>T	c.(76-78)Cca>Tca	p.P26S	MME_uc003fab.1_Missense_Mutation_p.P26S|MME_uc003fac.1_Missense_Mutation_p.P26S|MME_uc003fad.1_Missense_Mutation_p.P26S|MME_uc003fae.1_Missense_Mutation_p.P26S	NM_007289	NP_009220	P08473	NEP_HUMAN	Homo sapiens membrane metallo-endopeptidase (MME), transcript variant 2b, mRNA.	26				P -> R (in Ref. 4; AAA51915).	cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	GCGATGGACTCCACTGGAGAT	0.453000														45			50		0	0	0.003610	0	0
SHPRH	257218	broad.mit.edu	37	6	146264734	146264734	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:146264734G>A	uc003qlf.3	-	8	2182	c.1783C>T	c.(1783-1785)Ccc>Tcc	p.P595S	SHPRH_uc003qle.3_Missense_Mutation_p.P595S|SHPRH_uc003qlg.1_Missense_Mutation_p.P151S|SHPRH_uc003qlj.1_Missense_Mutation_p.P484S	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	Homo sapiens SNF2 histone linker PHD RING helicase (SHPRH), transcript variant 1, mRNA.	595					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TGTGAATCGGGATTGATAAAT	0.363000														20			10		0	0	0.000673	0	0
NEB	4703	broad.mit.edu	37	2	152528985	152528985	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:152528985G>A	uc021vrb.1	-	34	4226	c.4197C>T	c.(4195-4197)gtC>gtT	p.V1399V	NEB_uc002txu.3_Silent_p.V1399V|NEB_uc021vrc.1_Silent_p.V1399V|NEB_uc010fnx.3_Silent_p.V1399V|NEB_uc021vrd.1_Silent_p.V1399V	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	1399					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CATTGGTAGCGACATCCTGGG	0.458000														33			11		0	0	0.001368	0	0
MEX3B	84206	broad.mit.edu	37	15	82335561	82335561	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:82335561G>A	uc002bgq.1	-	1	1965	c.1650C>T	c.(1648-1650)agC>agT	p.S550S		NM_032246	NP_115622	Q6ZN04	MEX3B_HUMAN	Homo sapiens mex-3 homolog B (C. elegans) (MEX3B), mRNA.	550					protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	RNA binding|calcium ion binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						ACTCGGGCTCGCTCTTCTCAC	0.627000														23			25		0	0	0.003954	0	0
GFI1B	8328	broad.mit.edu	37	9	135862081	135862081	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:135862081C>T	uc004ccg.3	+	1	371	c.16C>T	c.(16-18)Ctg>Ttg	p.L6L	GFI1B_uc010mzy.3_Silent_p.L6L	NM_004188	NP_004179	Q5VTD9	GFI1B_HUMAN	Homo sapiens growth factor independent 1B transcription repressor (GFI1B), transcript variant 1, mRNA.	6	Mediates repression of transcription.				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		ACGCTCCTTCCTGGTGAAGAG	0.592000														4			6		0	0	0.001984	0	0
USP19	10869	broad.mit.edu	37	3	49149411	49149411	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:49149411G>A	uc003cwd.2	-	18	2846	c.2527C>T	c.(2527-2529)Ctg>Ttg	p.L843L	USP19_uc003cwa.3_Silent_p.L651L|USP19_uc003cwb.3_Intron|USP19_uc003cvz.4_Silent_p.L946L|USP19_uc011bcg.2_Silent_p.L934L|USP19_uc003cwc.2_Silent_p.L601L|USP19_uc011bch.2_Silent_p.L944L	NM_006677	NP_006668	O94966	UBP19_HUMAN	Homo sapiens ubiquitin specific peptidase 19 (USP19), transcript variant 4, mRNA.	843					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACACTGACCAGGAAGGGGTAG	0.587000														8			11		0	0	0.000673	0	0
RIMS3	9783	broad.mit.edu	37	1	41095019	41095019	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:41095019G>A	uc001cfu.1	-	5	963	c.498C>T	c.(496-498)gaC>gaT	p.D166D	RIMS3_uc001cfv.1_Silent_p.D166D	NM_014747	NP_055562	Q9UJD0	RIMS3_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 3 (RIMS3), mRNA.	166	C2.				neurotransmitter transport	cell junction|synapse				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)			GGCCACTCCGGTCCATGATGG	0.592000														23			44		0	0	0.003610	0	0
OR13C4	138804	broad.mit.edu	37	9	107288807	107288807	+	Silent	SNP	C	T	T	rs141274906	by1000genomes	TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:107288807C>T	uc011lvn.2	-	0	684	c.684G>A	c.(682-684)acG>acA	p.T228T		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 4 (OR13C4), mRNA.	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						TGGCCGAGTTCGTTCGCAAGA	0.408000														45			21		0	0	0.003330	0	0
GDA	9615	broad.mit.edu	37	9	74856136	74856136	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:74856136C>T	uc004air.3	+	10	1266	c.1057C>T	c.(1057-1059)Ctt>Ttt	p.L353F	GDA_uc011lse.2_Missense_Mutation_p.L279F|GDA_uc004aiq.3_Missense_Mutation_p.L353F|GDA_uc010mow.2_Non-coding_Transcript|GDA_uc011lsf.2_Missense_Mutation_p.L279F|GDA_uc004ais.3_Missense_Mutation_p.L275F	NM_001242505	NP_001229434	Q9Y2T3	GUAD_HUMAN	Homo sapiens guanine deaminase (GDA), transcript variant 1, mRNA.	353					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		TTCCAATATCCTTTTAATTAA	0.383000														19			14		0	0	0.002450	0	0
CASR	846	broad.mit.edu	37	3	122003260	122003260	+	Missense_Mutation	SNP	C	T	T	rs104893710		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:122003260C>T	uc003eew.4	+	6	2927	c.2489C>T	c.(2488-2490)tCc>tTc	p.S830F	CASR_uc003eev.4_Missense_Mutation_p.S820F	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	820					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	p.G830D(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GTCTGGATCTCCTTCATTCCA	0.517000														41			13		0	0	0.004007	0	0
CPT1A	1374	broad.mit.edu	37	11	68525121	68525121	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:68525121G>A	uc001oog.4	-	18	2483	c.2313C>T	c.(2311-2313)tcC>tcT	p.S771S	CPT1A_uc001oof.4_Intron	NM_001876	NP_001867	P50416	CPT1A_HUMAN	Homo sapiens carnitine palmitoyltransferase 1A (liver) (CPT1A), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	771					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	ATTACTTTTTGGAATTAGAAC	0.403000														26			18		0	0	0.001523	0	0
CATSPERB	79820	broad.mit.edu	37	14	92189404	92189404	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:92189404T>C	uc001xzs.1	-	3	438	c.298A>G	c.(298-300)Aat>Gat	p.N100D		NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	100					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				AACGTTAAATTAAAGTGGAAG	0.328000														25			25		0	0	0.001512	0	0
USP38	84640	broad.mit.edu	37	4	144135130	144135130	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:144135130C>T	uc003ijb.3	+	8	2535	c.2001C>T	c.(1999-2001)ttC>ttT	p.F667F	USP38_uc003ija.4_Silent_p.F667F|USP38_uc003ijc.3_Non-coding_Transcript	NM_032557	NP_115946	Q8NB14	UBP38_HUMAN	Homo sapiens ubiquitin specific peptidase 38 (USP38), mRNA.	667					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					CAGCTGCCTTCATCTGTGACT	0.423000														43			79		0	0	0.003610	0	0
SLC9A4	389015	broad.mit.edu	37	2	103136326	103136326	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:103136326G>A	uc002tbz.4	+	8	2187	c.1730G>A	c.(1729-1731)aGg>aAg	p.R577K		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	577					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						AGGGCCCAGAGGATACAAGGA	0.453000														11			7		0	0	0.004482	0	0
ZNF646	9726	broad.mit.edu	37	16	31092887	31092887	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:31092887G>A	uc002eap.3	+	1	5531	c.5242G>A	c.(5242-5244)Gag>Aag	p.E1748K	ZNF646_uc021tgu.1_Missense_Mutation_p.E1748K	NM_014699	NP_055514	O15015	ZN646_HUMAN	Homo sapiens zinc finger protein 646 (ZNF646), mRNA.	1748					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						TGCCCGGCTGGAGGGCCACGG	0.657000														37			37		0	0	0.004289	0	0
HSD17B7	51478	broad.mit.edu	37	1	162774082	162774082	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:162774082C>T	uc001gci.3	+	6	868	c.773C>T	c.(772-774)aCt>aTt	p.T258I	HSD17B7_uc009wuv.3_Non-coding_Transcript	NM_016371	NP_057455	P56937	DHB7_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 (HSD17B7), mRNA.	258					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity			endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)				NADH(DB00157)	AATGCATTCACTTTGACACCA	0.328000														8			18		0	0	0.001523	0	0
SZT2	23334	broad.mit.edu	37	1	43881772	43881772	+	Splice_Site	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:43881772G>A	uc001cjk.2	+	6	856	c.-1754_splice	c.e6+1		SZT2_uc009vws.1_Splice_Site_p.G258_splice	NM_015284	NP_056099	Q5T011	SZT2_HUMAN	Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.							peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CTCTAGTGCAGGTCAGTAGAA	0.537000														5			14		0	0	0.003163	0	0
SUN1	23353	broad.mit.edu	37	7	892478	892478	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:892478C>T	uc021zym.1	+	8	962	c.942C>T	c.(940-942)ttC>ttT	p.F314F	GET4_uc003sjj.1_Non-coding_Transcript|SUN1_uc011jvq.2_Silent_p.F211F|SUN1_uc003sjf.3_Silent_p.F231F|SUN1_uc003sjg.3_Silent_p.F219F|SUN1_uc011jvr.2_Silent_p.F123F|SUN1_uc003sji.3_Silent_p.F152F|SUN1_uc003sjk.3_5'UTR	NM_001130965	NP_001124437	O94901	SUN1_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 1 (SUN1), transcript variant 1, mRNA.	341					cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	SUN-KASH complex|integral to membrane|nuclear inner membrane	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGGGCAATTTCTTTTCGTTCT	0.527000														8			74		0	0	0.003610	0	0
ANO4	121601	broad.mit.edu	37	12	101433756	101433756	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:101433756C>T	uc010svm.1	+	10	1493	c.921C>T	c.(919-921)tcC>tcT	p.S307S	ANO4_uc001thw.2_Silent_p.S272S|ANO4_uc001thx.2_Silent_p.S307S	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	307						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GTAAAAACTCCATTCGAACCC	0.448000										HNSCC(74;0.22)				31			56		0	0	0.003610	0	0
WFDC9	259240	broad.mit.edu	37	20	44237382	44237383	+	Missense_Mutation	DNP	CC	TT	TT	rs141099778		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:44237382_44237383CC>TT	uc002xoy.3	-	3	376_377	c.158_159GG>AA	c.(157-159)agg>aAA	p.R53K		NM_147198	NP_671731	Q8NEX5	WFDC9_HUMAN	Homo sapiens WAP four-disulfide core domain 9 (WFDC9), mRNA.	53						extracellular region				breast(1)|large_intestine(1)|liver(1)|lung(1)|prostate(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				TTTTAGTACACCTTTTCTCACA	0.436000														39			36		0	0	0.004672	0	0
LRRC7	57554	broad.mit.edu	37	1	70503858	70503858	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:70503858T>C	uc001dep.3	+	18	2267	c.2237T>C	c.(2236-2238)gTt>gCt	p.V746A	LRRC7_uc009wbg.3_Missense_Mutation_p.V30A|LRRC7_uc001deq.3_5'UTR	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	746						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CGGGAGGCTGTTCCCCCAGGC	0.498000														37			94		0	0	0.003610	0	0
LCN2	3934	broad.mit.edu	37	9	130913917	130913917	+	Splice_Site	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:130913917G>A	uc004bto.1	+	3	349	c.276_splice	c.e3-1	p.R92_splice	LCN2_uc011map.1_Splice_Site_p.R92_splice	NM_005564	NP_005555	P80188	NGAL_HUMAN	Homo sapiens lipocalin 2 (LCN2), mRNA.	92					apoptosis|innate immune response|regulation of apoptosis|siderophore transport		iron ion binding|transporter activity			central_nervous_system(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	8						CCCTCCCAAGGAAAAAGAAGT	0.582000														26			8		0	0	0.006214	0	0
DDX4	54514	broad.mit.edu	37	5	55081595	55081595	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:55081595G>A	uc003jqg.4	+	12	859	c.760G>A	c.(760-762)Gat>Aat	p.D254N	DDX4_uc010ivz.3_Missense_Mutation_p.D234N|DDX4_uc003jqh.4_Missense_Mutation_p.D220N|DDX4_uc003jqj.3_Missense_Mutation_p.D105N	NM_024415	NP_077726	Q9NQI0	DDX4_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 (DDX4), transcript variant 1, mRNA.	254					multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TCCACCTGAGGATGAGGACTC	0.398000														15			17		0	0	0.006122	0	0
MYCBP2	23077	broad.mit.edu	37	13	77799638	77799638	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:77799638G>A	uc021rks.1	-	18	3056	c.2789C>T	c.(2788-2790)cCt>cTt	p.P930L	MYCBP2_uc010aev.3_Missense_Mutation_p.P296L	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	892					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AGAGCCTGGAGGGTATGTTGT	0.448000														17			13		0	0	0.001855	0	0
RANBP2	5903	broad.mit.edu	37	2	109389502	109389502	+	Splice_Site	SNP	A	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:109389502A>C	uc002tem.4	+	23	8418	c.8292_splice	c.e23+1	p.Q2764_splice		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	2764					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AGGAAGCTCAAGTAAGAACAT	0.333000														12			4		0	0	0.000248	0	0
CSMD3	114788	broad.mit.edu	37	8	113678612	113678612	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:113678612C>T	uc003ynu.3	-	16	2869	c.2710G>A	c.(2710-2712)Gga>Aga	p.G904R	CSMD3_uc003yns.3_Missense_Mutation_p.G176R|CSMD3_uc003ynt.3_Missense_Mutation_p.G864R|CSMD3_uc011lhx.2_Missense_Mutation_p.G800R	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	904	CUB 5.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGAATCACTCCACTGGGAGCT	0.383000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				4			4		0	0	0.000602	0	0
CRNKL1	51340	broad.mit.edu	37	20	20026060	20026060	+	Silent	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:20026060A>G	uc002wrs.3	-	6	1208	c.1176T>C	c.(1174-1176)ttT>ttC	p.F392F		NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN	Homo sapiens crooked neck pre-mRNA splicing factor-like 1 (Drosophila) (CRNKL1), mRNA.	392					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						GTGCATGGGCAAAATAAGCAT	0.428000														64			53		0	0	0.003610	0	0
CHD1	1105	broad.mit.edu	37	5	98199227	98199227	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:98199227G>A	uc003knf.3	-	30	4460	c.4312C>T	c.(4312-4314)Ctt>Ttt	p.L1438F	CHD1_uc010jbn.3_Missense_Mutation_p.L164F	NM_001270	NP_001261	O14646	CHD1_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 1 (CHD1), mRNA.	1438					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	CTTTCTGAAAGGCCTTTCTCA	0.323000														21			23		0	0	0.007291	0	0
COCH	1690	broad.mit.edu	37	14	31355241	31355241	+	Silent	SNP	G	A	A	rs150529026		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:31355241G>A	uc001wqr.2	+	10	1280	c.1200G>A	c.(1198-1200)tcG>tcA	p.S400S	COCH_uc001wqp.2_Silent_p.S400S|COCH_uc001wqq.4_Silent_p.S400S|LOC100506071_uc001wqs.3_Non-coding_Transcript|COCH_uc001wqt.1_Silent_p.S251S	NM_004086	NP_004077	O43405	COCH_HUMAN	Homo sapiens coagulation factor C homolog, cochlin (Limulus polyphemus) (COCH), transcript variant 2, mRNA.	400	VWFA 2.				sensory perception of sound	proteinaceous extracellular matrix		p.S400L(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		TTGAAATCTCGGACATTGGTG	0.433000														24			24		0	0	0.006320	0	0
TMEM144	55314	broad.mit.edu	37	4	159158716	159158716	+	Silent	SNP	A	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:159158716A>C	uc003ipx.3	+	8	1123	c.603A>C	c.(601-603)ggA>ggC	p.G201G	TMEM144_uc010iqi.3_Non-coding_Transcript	NM_018342	NP_060812	Q7Z5S9	TM144_HUMAN	Homo sapiens transmembrane protein 144 (TMEM144), mRNA.	201						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		TACTCTATGGATCTACATTTG	0.378000														56			23		0	0	0.003330	0	0
LRRC47	57470	broad.mit.edu	37	1	3698136	3698136	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:3698136C>T	uc001akx.1	-	5	1471	c.1443G>A	c.(1441-1443)ttG>ttA	p.L481L		NM_020710	NP_065761	Q8N1G4	LRC47_HUMAN	Homo sapiens leucine rich repeat containing 47 (LRRC47), mRNA.	481					translation		RNA binding|phenylalanine-tRNA ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		TTGTTACTTCCAAAAACAAAT	0.408000														15			4		0	0	0.000602	0	0
POLR2A	5430	broad.mit.edu	37	17	7416903	7416903	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:7416903C>T	uc002ghf.4	+	28	5706	c.5320C>T	c.(5320-5322)Ccc>Tcc	p.P1774S		NM_000937	NP_000928	P24928	RPB1_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide A, 220kDa (POLR2A), mRNA.	1774	52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN].				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|RNA-directed RNA polymerase activity|metal ion binding|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				ACCTACTAGTCCCAACTACAC	0.532000														164			75		0	0	0.003610	0	0
SLC11A1	6556	broad.mit.edu	37	2	219254752	219254752	+	Splice_Site	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:219254752G>A	uc002vhv.3	+	9	1294	c.954_splice	c.e9+1	p.A318_splice	SLC11A1_uc010fvp.1_Splice_Site_p.A318_splice|SLC11A1_uc010fvq.1_Splice_Site_p.A251_splice|SLC11A1_uc010zkc.1_Splice_Site_p.A251_splice|SLC11A1_uc002vhu.1_Splice_Site_p.A113_splice|SLC11A1_uc002vhw.3_Splice_Site_p.A200_splice|SLC11A1_uc010fvr.3_Splice_Site_p.A113_splice	NM_000578	NP_000569	P49279	NRAM1_HUMAN	Homo sapiens solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 (SLC11A1), mRNA.	318			A -> V.		L-arginine import|MHC class II biosynthetic process|T cell cytokine production|T cell proliferation involved in immune response|activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|mRNA stabilization|macrophage activation|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCAGGCTGCGGTGAGACACAC	0.562000														21			14		0	0	0.004007	0	0
PKDREJ	10343	broad.mit.edu	37	22	46653070	46653070	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:46653070C>T	uc003bhh.3	-	0	6150	c.6150G>A	c.(6148-6150)atG>atA	p.M2050I		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	2050					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AAATTATCCTCATAATGTGAT	0.443000														24			18		0	0	0.001216	0	0
ZNF366	167465	broad.mit.edu	37	5	71757337	71757337	+	Splice_Site	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:71757337C>T	uc003kce.1	-	2	173	c.-13_splice	c.e2-1			NM_152625	NP_689838	Q8N895	ZN366_HUMAN	Homo sapiens zinc finger protein 366 (ZNF366), mRNA.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TGGCAATTTTCCTTTAAAGAG	0.378000														42			40		0	0	0.003610	0	0
DMBT1	1755	broad.mit.edu	37	10	124395546	124395546	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:124395546C>T	uc001lgk.1	+	49	6307	c.6201C>T	c.(6199-6201)ttC>ttT	p.F2067F	DMBT1_uc001lgl.1_Silent_p.F2057F|DMBT1_uc001lgm.1_Silent_p.F1439F|DMBT1_uc021qaf.1_Silent_p.F2067F|DMBT1_uc021qag.1_Silent_p.F2057F|DMBT1_uc021qah.1_Silent_p.F1439F|DMBT1_uc009xzz.1_Silent_p.F2066F|DMBT1_uc010qtx.1_Silent_p.F787F|DMBT1_uc009yab.1_Silent_p.F770F|DMBT1_uc009yac.1_Silent_p.F361F	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	2067	CUB 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TTGAAGTTTTCGATGGCCCCT	0.502000														32			19		0	0	0.002299	0	0
CREBL2	1389	broad.mit.edu	37	12	12788821	12788822	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:12788821_12788822CC>TT	uc001rap.1	+	1	402_403	c.126_127CC>TT	c.(124-129)gcccga>gcTTga	p.R43*	CREBL2_uc009zhv.1_5'Flank	NM_001310	NP_001301	O60519	CRBL2_HUMAN	Homo sapiens cAMP responsive element binding protein-like 2 (CREBL2), mRNA.	43					cell cycle|signal transduction	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)	1		Prostate(47;0.0684)		BRCA - Breast invasive adenocarcinoma(232;0.0503)		AATGCCGAGCCCGAAAAAAGCT	0.465000														31			8		0	0	0.004672	0	0
TCRA	0	broad.mit.edu	37	14	22539424	22539424	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:22539424C>T	uc001wcy.3	+	1	331	c.320C>T	c.(319-321)tCc>tTc	p.S107F	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpq.1_Non-coding_Transcript					Homo sapiens mRNA for T cell receptor alpha variable 22, partial cds, clone: SEB 209.																		TTGTACATTTCCTCTTCCCAG	0.527000														21			24		0	0	0.004656	0	0
TOM1	10043	broad.mit.edu	37	22	35719514	35719514	+	Missense_Mutation	SNP	C	T	T	rs146672758		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:35719514C>T	uc003ann.3	+	4	517	c.392C>T	c.(391-393)tCg>tTg	p.S131L	TOM1_uc011ami.2_Missense_Mutation_p.S98L|TOM1_uc003anp.3_Missense_Mutation_p.S131L|TOM1_uc011aml.2_Intron|TOM1_uc011amk.2_Missense_Mutation_p.S93L|TOM1_uc003ano.3_Non-coding_Transcript|TOM1_uc011amj.2_5'UTR	NM_005488	NP_005479	O60784	TOM1_HUMAN	Homo sapiens target of myb1 (chicken) (TOM1), transcript variant 1, mRNA.	131	VHS.				endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						TTCCGCAGCTCGCCCGATCTG	0.612000														31			51		0	0	0.003610	0	0
IGSF21	84966	broad.mit.edu	37	1	18554486	18554486	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:18554486G>A	uc001bau.2	+	1	548	c.165G>A	c.(163-165)cgG>cgA	p.R55R		NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	Homo sapiens immunoglobin superfamily, member 21 (IGSF21), mRNA.	55	Ig-like 1.					extracellular region		p.R55W(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		GGCGCATGCGGGAGATCGTGT	0.582000														42			12		0	0	0.000978	0	0
HTR1A	3350	broad.mit.edu	37	5	63256338	63256338	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:63256338G>A	uc011cqt.2	-	0	1209	c.1209C>T	c.(1207-1209)ttC>ttT	p.F403F		NM_000524	NP_000515	P08908	5HT1A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1A (HTR1A), mRNA.	403					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	p.Y402*(1)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	AGTCCTTGTTGAAGTATGCGT	0.522000														121			118		0	0	0.003610	0	0
SEC22C	9117	broad.mit.edu	37	3	42594865	42594865	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:42594865T>C	uc003clj.3	-	6	997	c.787A>G	c.(787-789)Aac>Gac	p.N263D	SEC22C_uc003clh.3_Intron|SEC22C_uc010hic.3_Intron|SEC22C_uc011azo.2_Intron|SEC22C_uc003cli.3_Intron	NM_032970	NP_116752	Q9BRL7	SC22C_HUMAN	Homo sapiens SEC22 vesicle trafficking protein homolog C (S. cerevisiae) (SEC22C), transcript variant 1, mRNA.	263					ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(2)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		AGGTACATGTTGCCCAGGCAA	0.458000														33			14		0	0	0.004007	0	0
KCNK10	54207	broad.mit.edu	37	14	88652049	88652049	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:88652049C>T	uc001xwm.3	-	6	1584	c.1462G>A	c.(1462-1464)Gag>Aag	p.E488K	KCNK10_uc001xwn.3_Missense_Mutation_p.E488K|KCNK10_uc001xwo.3_Missense_Mutation_p.E483K	NM_138318	NP_612191	P57789	KCNKA_HUMAN	Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA.	483					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						TTCTTCTCCTCGTCCAGGGAG	0.502000														42			38		0	0	0.004289	0	0
TCRAV5.1a	0	broad.mit.edu	37	14	22237063	22237063	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:22237063C>T	uc001wbt.1	+	1	147	c.140C>T	c.(139-141)tCc>tTc	p.S47F	TRA_uc021rpa.1_Intron|TCRAV5.1a_uc021rpd.1_Non-coding_Transcript					Homo sapiens mRNA for T cell receptor alpha variable 6, partial cds, clone: un 84-2.																		GAACAGAATTCCGAGGCCCTG	0.468000														4			4		0	0	0.000602	0	0
MAPK8IP2	23542	broad.mit.edu	37	22	51041676	51041676	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:51041676G>A	uc003bmx.3	+	2	313	c.196G>A	c.(196-198)Gag>Aag	p.E66K	MAPK8IP2_uc003bmy.3_Missense_Mutation_p.E39K|MAPK8IP2_uc011asc.2_5'Flank	NM_012324	NP_036456	Q13387	JIP2_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 2 (MAPK8IP2), transcript variant 1, mRNA.	66					MAPKKK cascade|behavioral fear response|dendrite morphogenesis|nonassociative learning|positive regulation of anti-apoptosis|regulation of JNK cascade|regulation of excitatory postsynaptic membrane potential|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	MAP-kinase scaffold activity|beta-amyloid binding|kinesin binding|protein kinase activator activity|protein kinase binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGGGCGCTCGGAGCAGCCGCA	0.622000														8			4		0	0	0.000248	0	0
ELF5	2001	broad.mit.edu	37	11	34501801	34501801	+	Silent	SNP	T	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:34501801T>C	uc001mvo.1	-	6	992	c.762A>G	c.(760-762)ggA>ggG	p.G254G	ELF5_uc021qft.1_Silent_p.G176G|ELF5_uc001mvp.2_Silent_p.G244G|ELF5_uc009ykd.2_Silent_p.G149G	NM_198381	NP_001413	Q9UKW6	ELF5_HUMAN	Homo sapiens E74-like factor 5 (ets domain transcription factor) (ELF5), transcript variant 1, mRNA.	254					cell proliferation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(4)|skin(1)	5		Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384)				GTGCATTTTTTCCAAATTTGT	0.403000														23			11		0	0	0.001368	0	0
FLT1	2321	broad.mit.edu	37	13	28877373	28877373	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:28877373C>T	uc001usb.3	-	29	4233	c.3948G>A	c.(3946-3948)agG>agA	p.R1316R	FLT1_uc010aap.2_Silent_p.R321R|FLT1_uc010aaq.2_Silent_p.R441R|FLT1_uc001usa.3_Silent_p.R534R	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	1316					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	ACGCGATTTTCCTTTCCAGCT	0.572000														36			37		0	0	0.006999	0	0
PEG3	5178	broad.mit.edu	37	19	57329128	57329128	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:57329128G>A	uc002qnu.2	-	5	1199	c.848C>T	c.(847-849)cCa>cTa	p.P283L	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_5'UTR|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Intron|PEG3_uc002qnv.2_Missense_Mutation_p.P283L|PEG3_uc002qnw.2_Missense_Mutation_p.P159L|PEG3_uc002qnx.2_Missense_Mutation_p.P157L|PEG3_uc010etr.2_Missense_Mutation_p.P283L	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	283					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ACTGGTGCTTGGGTAGGCACT	0.512000														22			20		0	0	0.002780	0	0
TTN	7273	broad.mit.edu	37	2	179481477	179481477	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:179481477C>T	uc021vsy.1	-	204	40660	c.40435G>A	c.(40435-40437)Gaa>Aaa	p.E13479K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E7174K|TTN_uc021vta.1_Missense_Mutation_p.E7107K|TTN_uc021vtb.1_Missense_Mutation_p.E6982K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	14406	Ig-like 91.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACATCAATTTCCCCAGAAATT	0.358000														14			4		0	0	0.000248	0	0
FCGR2C	9103	broad.mit.edu	37	1	161569695	161569695	+	RNA	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:161569695C>T	uc021pdi.1	+	6		c.1173C>T				NM_201563				Homo sapiens Fc fragment of IgG, low affinity IIc, receptor for (CD32) (gene/pseudogene) (FCGR2C), mRNA.											lung(2)	2	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			tggaaaaattcctgagcaaac	0.393000														1			8		0	0	0.003080	0	0
TTN	7273	broad.mit.edu	37	2	179434450	179434450	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:179434450T>C	uc021vsy.1	-	274	68930	c.68705A>G	c.(68704-68706)aAg>aGg	p.K22902R	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.K16597R|TTN_uc021vta.1_Missense_Mutation_p.K16530R|TTN_uc021vtb.1_Missense_Mutation_p.K16405R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	23829	Fibronectin type-III 66.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCCAACAGCTTCTCTACTTC	0.378000														7			3		0	0	0.004672	0	0
ICA1	3382	broad.mit.edu	37	7	8272378	8272378	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:8272378G>A	uc003sro.4	-	2	161	c.25C>T	c.(25-27)Ccc>Tcc	p.P9S	ICA1_uc010ktr.3_Missense_Mutation_p.P9S|ICA1_uc003srm.3_Missense_Mutation_p.P9S|ICA1_uc003srn.4_5'UTR|ICA1_uc003srq.3_Missense_Mutation_p.P9S|ICA1_uc003srr.3_Missense_Mutation_p.P8S|ICA1_uc010kts.3_Non-coding_Transcript|ICA1_uc003srs.1_Missense_Mutation_p.P9S	NM_001136020	NP_071682	Q05084	ICA69_HUMAN	Homo sapiens islet cell autoantigen 1, 69kDa (ICA1), mRNA.	9					neurotransmitter transport	Golgi membrane|cell junction|cytosol|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		AAGTCCCAGGGATAACTGCTA	0.328000														3			36		0	0	0.002222	0	0
CYP4X1	260293	broad.mit.edu	37	1	47515112	47515112	+	Missense_Mutation	SNP	T	C	C	rs148267635		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:47515112T>C	uc001cqt.3	+	10	1541	c.1291T>C	c.(1291-1293)Ttc>Ctc	p.F431L	CYP4X1_uc001cqr.3_Missense_Mutation_p.F430L|CYP4X1_uc001cqs.3_Missense_Mutation_p.F366L	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.	431						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						CCCCTTGAGGTTCTCTCAGGA	0.458000														61			18		0	0	0.001523	0	0
CAB39L	81617	broad.mit.edu	37	13	49906097	49906098	+	Missense_Mutation	DNP	AG	GA	GA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:49906097_49906098AG>GA	uc001vcw.3	-	7	1317_1318	c.819_820CT>TC	c.(817-822)gccttt>gcTCtt	p.F274L	CAB39L_uc001vcx.3_Missense_Mutation_p.F274L|CAB39L_uc010adf.3_Missense_Mutation_p.F271L	NM_030925	NP_112187	Q9H9S4	CB39L_HUMAN	Homo sapiens calcium binding protein 39-like (CAB39L), transcript variant 1, mRNA.	274					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		AAAACATGAAAGGCTTCAAACT	0.401000														67			38		0	0	0.004672	0	0
KIF17	57576	broad.mit.edu	37	1	21014266	21014266	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:21014266G>A	uc001bdr.4	-	7	1671	c.1553C>T	c.(1552-1554)tCc>tTc	p.S518F	KIF17_uc001bdp.4_5'Flank|KIF17_uc009vpx.3_Intron|KIF17_uc001bds.4_Missense_Mutation_p.S518F	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.	518					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		AAACCTGGAGGAAACCTGAGT	0.542000														62			16		0	0	0.004990	0	0
SEPW1	6415	broad.mit.edu	37	19	48284380	48284380	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:48284380C>T	uc021uwp.1	+	3	325	c.124C>T	c.(124-126)Ccc>Tcc	p.P42S	SEPW1_uc002pho.1_5'Flank	NM_003009	NP_003000	P63302	SELW_HUMAN	Homo sapiens selenoprotein W, 1 (SEPW1), mRNA.	42					cell redox homeostasis	cytoplasm	selenium binding			endometrium(1)|kidney(1)|lung(2)	4		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		all cancers(93;0.000291)|OV - Ovarian serous cystadenocarcinoma(262;0.000305)|Epithelial(262;0.0146)|GBM - Glioblastoma multiforme(486;0.0273)		CGAGGGAACTCCCCAGGCCAC	0.572000														102			54		0	0	0.003610	0	0
PPM1L	151742	broad.mit.edu	37	3	160783336	160783336	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:160783336G>A	uc003fdr.3	+	2	821	c.720G>A	c.(718-720)aaG>aaA	p.K240K	PPM1L_uc003fds.3_Silent_p.K61K|PPM1L_uc003fdt.3_Silent_p.K113K|PPM1L_uc010hwf.3_Non-coding_Transcript	NM_139245	NP_640338	Q5SGD2	PPM1L_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1L (PPM1L), mRNA.	240	PP2C-like.				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			AGGAAAGAAAGAGGATAAAGA	0.502000														9			8		0	0	0.004482	0	0
PGK2	5232	broad.mit.edu	37	6	49754496	49754496	+	Silent	SNP	G	A	A	rs142594452	byFrequency	TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:49754496G>A	uc003ozu.3	-	0	558	c.405C>T	c.(403-405)ccC>ccT	p.P135P		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	135					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					TCTTTCCAGAGGGATCTTGGC	0.502000														18			20		0	0	0.001882	0	0
TMEM176A	55365	broad.mit.edu	37	7	150500716	150500716	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:150500716G>A	uc003whx.1	+	4	429	c.351G>A	c.(349-351)ctG>ctA	p.L117L	TMEM176B_uc003whw.4_5'Flank	NM_018487	NP_060957	Q96HP8	T176A_HUMAN	Homo sapiens transmembrane protein 176A (TMEM176A), mRNA.	117						integral to membrane				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGCCCTGCTGAGGACTCTGC	0.527000														56			50		0	0	0.003610	0	0
PRKG1	5592	broad.mit.edu	37	10	54048561	54048561	+	Silent	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:54048561A>G	uc001jjm.3	+	14	1968	c.1740A>G	c.(1738-1740)ccA>ccG	p.P580P	PRKG1_uc001jjo.3_Silent_p.P595P|PRKG1_uc009xow.2_Silent_p.P298P|LOC100506939_uc021pqu.1_Intron	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type I (PRKG1), transcript variant 1, mRNA.	580	Protein kinase.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		TAGAATTTCCAAAGAAGATTG	0.343000														9			6		0	0	0.001984	0	0
ATP11C	286410	broad.mit.edu	37	X	138901537	138901537	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:138901537C>T	uc004faz.3	-	2	305	c.206G>A	c.(205-207)aGa>aAa	p.R69K	ATP11C_uc004fba.3_Missense_Mutation_p.R69K	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	Homo sapiens ATPase, class VI, type 11C (ATP11C), transcript variant 1, mRNA.	69					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					ATTTGCAATTCTTCTAAACTG	0.303000														1			23		0	0	0.001512	0	0
PTPRK	5796	broad.mit.edu	37	6	128388791	128388791	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:128388791C>T	uc003qbk.3	-	11	2397	c.2030G>A	c.(2029-2031)gGa>gAa	p.G677E	PTPRK_uc010kfc.3_Missense_Mutation_p.G677E|PTPRK_uc003qbj.3_Missense_Mutation_p.G677E|PTPRK_uc011ebu.2_Missense_Mutation_p.G677E|PTPRK_uc003qbl.1_Missense_Mutation_p.G547E|PTPRK_uc011ebv.1_Missense_Mutation_p.G677E	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	677	Fibronectin type-III 4.				cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		AGGTAGGTTTCCCGGGGGGAG	0.542000														28			13		0	0	0.004007	0	0
FANCI	55215	broad.mit.edu	37	15	89850735	89850735	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:89850735G>A	uc010bnp.1	+	32	3656	c.3566G>A	c.(3565-3567)gGa>gAa	p.G1189E	FANCI_uc002bnm.1_Missense_Mutation_p.G1129E|FANCI_uc002bnn.1_Non-coding_Transcript|FANCI_uc002bnp.1_Missense_Mutation_p.G949E|FANCI_uc002bnq.1_Missense_Mutation_p.G602E	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN	Homo sapiens Fanconi anemia, complementation group I (FANCI), transcript variant 1, mRNA.	1189					DNA repair|cell cycle	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					AGCTCCGGAGGAATTCCAAAA	0.423000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					0			29		0	0	0.007291	0	0
CCDC15	80071	broad.mit.edu	37	11	124857469	124857469	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:124857469C>T	uc001qbm.4	+	7	1606	c.1347C>T	c.(1345-1347)ttC>ttT	p.F449F		NM_025004	NP_079280	Q0P6D6	CCD15_HUMAN	Homo sapiens coiled-coil domain containing 15 (CCDC15), mRNA.	449						centrosome				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		ACCAGGACTTCCTACCCAGAG	0.408000														26			23		0	0	0.002780	0	0
TRERF1	55809	broad.mit.edu	37	6	42233512	42233512	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:42233512G>A	uc003ose.2	-	5	2024	c.1461C>T	c.(1459-1461)gcC>gcT	p.A487A	TRERF1_uc011duq.1_Silent_p.A487A|TRERF1_uc003osb.2_Silent_p.A326A|TRERF1_uc003osc.2_Silent_p.A326A|TRERF1_uc003osd.2_Silent_p.A487A	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	487	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			ACCCTGGCTGGGCTCTCCCAT	0.473000														1			11		0	0	0.000978	0	0
CIC	23152	broad.mit.edu	37	19	42798195	42798196	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:42798195_42798196CC>TT	uc002otf.1	+	16	4189_4190	c.4149_4150CC>TT	c.(4147-4152)ccccgg>ccTTgg	p.R1384W		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	1384					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCACCTCACCCCGGGCCATCCT	0.629000			"""Mis, F, S"""		oligodendroglioma									35			32		0	0	0.004672	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55027423	55027423	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:55027423C>T	uc002lgn.3	+	3	1415	c.1058C>T	c.(1057-1059)tCc>tTc	p.S353F		NM_015879	NP_056963	O43173	SIA8C_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 (ST8SIA3), mRNA.	353					N-glycan processing|glycosphingolipid biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		TGGCAGGAGTCCCACCAGCTG	0.493000														5			9		0	0	0.004482	0	0
KIAA1755	85449	broad.mit.edu	37	20	36869144	36869145	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:36869144_36869145GG>AA	uc002xhy.1	-	2	1660_1661	c.1388_1389CC>TT	c.(1387-1389)tcc>tTT	p.S463F	KIAA1755_uc002xhz.1_Missense_Mutation_p.S463F	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	Homo sapiens KIAA1755 (KIAA1755), mRNA.	463										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GGGGCTCAGGGGAGGAGGTGTT	0.569000														39			19		0	0	0.004672	0	0
ITPR2	3709	broad.mit.edu	37	12	26634117	26634117	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:26634117T>C	uc001rhg.3	-	42	6487	c.6070A>G	c.(6070-6072)Aat>Gat	p.N2024D	ITPR2_uc009zjg.1_Missense_Mutation_p.N175D	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	2024					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TTTATGTCATTCAGAATCAAA	0.378000														10			22		0	0	0.003954	0	0
FAM193B	54540	broad.mit.edu	37	5	176952110	176952110	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:176952110C>A	uc003mhu.3	-	5	1461	c.1372G>T	c.(1372-1374)Gag>Tag	p.E458*	FAM193B_uc003mhr.3_5'UTR|FAM193B_uc021yiw.1_Nonsense_Mutation_p.E84*|FAM193B_uc003mht.3_Nonsense_Mutation_p.E84*|FAM193B_uc003mhv.3_Nonsense_Mutation_p.E84*|FAM193B_uc003mhw.3_Non-coding_Transcript	NM_001190946	NP_001177875	Q6IPW0	Q6IPW0_HUMAN	Homo sapiens family with sequence similarity 193, member B (FAM193B), transcript variant 3, mRNA.	134										kidney(1)|large_intestine(3)	4						TCGGGCCACTCCAAGAGCCTC	0.577000														29			22		2.98393e-07	4.12752e-07	0.002780	1	0
FKBP6	8468	broad.mit.edu	37	7	72744286	72744286	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:72744286C>T	uc003tya.2	+	3	531	c.399C>T	c.(397-399)gtC>gtT	p.V133V	FKBP6_uc003twz.2_Intron|FKBP6_uc011kew.1_Silent_p.V128V|FKBP6_uc010lbe.1_Non-coding_Transcript|TRIM50_uc003txy.1_5'Flank|TRIM50_uc003txz.1_5'Flank	NM_003602	NP_003593	O75344	FKBP6_HUMAN	Homo sapiens FK506 binding protein 6, 36kDa (FKBP6), transcript variant 1, mRNA.	133	PPIase FKBP-type.				protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				ACACCACTGTCCTGTTTGAGA	0.527000														38			19		0	0	0.003330	0	0
ZMYM2	7750	broad.mit.edu	37	13	20656921	20656921	+	Splice_Site	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:20656921G>A	uc001umr.3	+	24	3867	c.3569_splice	c.e24-1	p.G1190_splice	ZMYM2_uc001ums.3_Splice_Site_p.G1190_splice|ZMYM2_uc021rgy.1_Splice_Site_p.G1190_splice|ZMYM2_uc001umt.3_Splice_Site_p.G1190_splice|ZMYM2_uc001umv.3_Splice_Site_p.G570_splice|ZMYM2_uc001umw.3_Splice_Site_p.G643_splice	NM_003453	NP_932072	Q9UBW7	ZMYM2_HUMAN	Homo sapiens zinc finger, MYM-type 2 (ZMYM2), transcript variant 1, mRNA.	1190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		TCTATTTAAGGGTCAATATTC	0.318000														5			5		0	0	0.000602	0	0
PRKAA2	5563	broad.mit.edu	37	1	57161759	57161759	+	Missense_Mutation	SNP	C	T	T	rs141766544		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:57161759C>T	uc001cyk.4	+	5	786	c.715C>T	c.(715-717)Cgt>Tgt	p.R239C		NM_006252	NP_006243	P54646	AAPK2_HUMAN	Homo sapiens protein kinase, AMP-activated, alpha 2 catalytic subunit (PRKAA2), mRNA.	239	Protein kinase.				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding	p.R239C(1)		breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						ATATCTCAATCGTTCTGTCGC	0.428000														51			139		0	0	0.003610	0	0
LRRC37A3	374819	broad.mit.edu	37	17	62856739	62856739	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:62856739C>T	uc002jey.2	-	10	4141	c.3525G>A	c.(3523-3525)caG>caA	p.Q1175Q	LRRC37A3_uc010wqg.1_Silent_p.Q293Q|LRRC37A3_uc002jex.1_Silent_p.Q152Q|LRRC37A3_uc010wqf.1_Silent_p.Q213Q|LRRC37A3_uc010dek.1_Silent_p.Q181Q|DQ578599_uc021ubv.1_5'Flank	NM_199340	NP_955372	O60309	L37A3_HUMAN	Homo sapiens leucine rich repeat containing 37, member A3 (LRRC37A3), mRNA.	1175						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						AGTGCCTTTTCTGGATGCTCC	0.512000														74			58		0	0	0.003610	0	0
CAGE1	285782	broad.mit.edu	37	6	7373394	7373394	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:7373394C>T	uc003mxl.2	-	4	2189	c.1658G>A	c.(1657-1659)aGg>aAg	p.R553K	CAGE1_uc003mxh.3_Non-coding_Transcript|CAGE1_uc021ylc.1_Missense_Mutation_p.R417K|CAGE1_uc003mxj.3_Missense_Mutation_p.R308K|CAGE1_uc003mxk.2_Missense_Mutation_p.R553K	NM_001170692	NP_001164163	Q8TC20	CAGE1_HUMAN	Homo sapiens cancer antigen 1 (CAGE1), transcript variant 1, mRNA.	553										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					CTCTTCACTCCTTGCAACCTG	0.338000														25			9		0	0	0.004482	0	0
SELE	6401	broad.mit.edu	37	1	169696637	169696637	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:169696637C>T	uc001ggm.4	-	9	1655	c.1498G>A	c.(1498-1500)Gga>Aga	p.G500R	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	500	Sushi 6.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					TTGATCTTTCCCGGAACTGCC	0.488000														20			38		0	0	0.006999	0	0
GLP2R	9340	broad.mit.edu	37	17	9739745	9739745	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:9739745G>A	uc002gmd.1	+	2	335	c.335G>A	c.(334-336)gGa>gAa	p.G112E	GLP2R_uc010cog.1_Non-coding_Transcript	NM_004246	NP_004237	O95838	GLP2R_HUMAN	Homo sapiens glucagon-like peptide 2 receptor (GLP2R), mRNA.	112					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	TCTTCTCCTGGAAATGTCTCT	0.413000														57			61		0	0	0.003610	0	0
P2RY14	9934	broad.mit.edu	37	3	150931471	150931471	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:150931471T>A	uc003eyr.1	-	2	1112	c.634A>T	c.(634-636)Aaa>Taa	p.K212*	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron|P2RY14_uc003eys.1_Nonsense_Mutation_p.K212*|P2RY14_uc021xfz.1_Nonsense_Mutation_p.K212*	NM_001081455	NP_055694	Q15391	P2Y14_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 14 (P2RY14), transcript variant 1, mRNA.	212						integral to membrane|plasma membrane	UDP-activated nucleotide receptor activity|purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTAAAGATTTTCTTTGTGATA	0.398000														11			19		0	0	0.006122	0	0
PALLD	23022	broad.mit.edu	37	4	169589390	169589390	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:169589390C>T	uc011cjx.2	+	2	1169	c.958C>T	c.(958-960)Cac>Tac	p.H320Y	PALLD_uc003iru.3_Missense_Mutation_p.H320Y|PALLD_uc003irv.3_5'UTR	NM_001166108	NP_001159580	Q8WX93	PALLD_HUMAN	Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA.	320	Ig-like C2-type 1.				cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		TATTCAAATCCACTGTGAGGG	0.512000									Pancreatic Cancer, Familial Clustering of					78			28		0	0	0.001512	0	0
IL36RN	26525	broad.mit.edu	37	2	113820070	113820070	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:113820070C>T	uc002tis.3	+	4	417	c.284C>T	c.(283-285)tCc>tTc	p.S95F	IL36RN_uc002tit.3_Missense_Mutation_p.S95F	NM_173170	NP_775262	Q9UBH0	I36RA_HUMAN	Homo sapiens interleukin 36 receptor antagonist (IL36RN), transcript variant 2, mRNA.	95						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						GCCAAGGAATCCAAGAGCTTC	0.632000														13			18		0	0	0.001216	0	0
SEMA6A	57556	broad.mit.edu	37	5	115782976	115782977	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:115782976_115782977GG>AA	uc003krx.4	-	19	3185_3186	c.2476_2477CC>TT	c.(2476-2478)ccc>TTc	p.P826F	SEMA6A_uc010jck.3_Missense_Mutation_p.P809F|SEMA6A_uc011cwe.2_Missense_Mutation_p.P188F|SEMA6A_uc003krv.4_Missense_Mutation_p.P236F|SEMA6A_uc003krw.4_Missense_Mutation_p.P286F|SEMA6A_uc010jcj.3_Missense_Mutation_p.P353F	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A (SEMA6A), mRNA.	809					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		GATGTGGCTGGGGGAGGCCCGC	0.644000														35			26		0	0	0.004672	0	0
ARSF	416	broad.mit.edu	37	X	3021880	3021880	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:3021880G>A	uc022brz.1	+	8	1316	c.1180G>A	c.(1180-1182)Gga>Aga	p.G394R	ARSF_uc004cre.2_Missense_Mutation_p.G394R|ARSF_uc004crf.2_Missense_Mutation_p.G394R	NM_001201538	NP_001188467	P54793	ARSF_HUMAN	Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA.	394						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGTACCAGCTGGACGGTTGAT	0.473000														2			19		0	0	0.007413	0	0
NFYB	4801	broad.mit.edu	37	12	104519919	104519919	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:104519919C>T	uc001tkl.1	-	3	405	c.204G>A	c.(202-204)atG>atA	p.M68I		NM_006166	NP_006157	P25208	NFYB_HUMAN	Homo sapiens nuclear transcription factor Y, beta (NFYB), mRNA.	68	B domain.					CCAAT-binding factor complex	repressing transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	6						TGGCATTTTTCATTATCCTAG	0.373000														42			29		0	0	0.002836	0	0
CDC45	8318	broad.mit.edu	37	22	19483551	19483551	+	Splice_Site	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:19483551C>T	uc011aha.2	+	8	765	c.687_splice	c.e8+1	p.S229_splice	CDC45_uc021wlg.1_Splice_Site|CDC45_uc011agz.1_Splice_Site_p.S192_splice|CDC45_uc002zpr.3_Splice_Site_p.S197_splice|CDC45_uc002zpt.3_Splice_Site_p.S151_splice	NM_001178010	NP_001171481	O75419	CDC45_HUMAN	Homo sapiens cell division cycle 45 homolog (S. cerevisiae) (CDC45), transcript variant 1, mRNA.	197					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						CATGGGACATCGGTAAGTATG	0.423000														61			61		0	0	0.003610	0	0
SRCAP	10847	broad.mit.edu	37	16	30740785	30740785	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:30740785C>T	uc002dze.1	+	26	6404	c.6019C>T	c.(6019-6021)Cag>Tag	p.Q2007*	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Nonsense_Mutation_p.Q1802*	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	2007					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GGCAGCCTTCCAGGAGCAATT	0.592000														46			32		0	0	0.003755	0	0
TLE1	7088	broad.mit.edu	37	9	84208114	84208114	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:84208114G>A	uc004alz.3	-	14	1878	c.1437C>T	c.(1435-1437)ccC>ccT	p.P479P	TLE1_uc004aly.3_Silent_p.P469P|TLE1_uc011lsr.2_Silent_p.P454P|TLE1_uc004ama.1_Silent_p.P468P	NM_005077	NP_005068	Q04724	TLE1_HUMAN	Homo sapiens transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila) (TLE1), mRNA.	469					Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						GGGGGATTCCGGGTCCGATGA	0.587000														43			18		0	0	0.001216	0	0
MYO18B	84700	broad.mit.edu	37	22	26165047	26165047	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:26165047C>T	uc003abz.1	+	3	1414	c.1164C>T	c.(1162-1164)tcC>tcT	p.S388S	MYO18B_uc003aca.1_Silent_p.S269S|MYO18B_uc010guy.1_Silent_p.S269S|MYO18B_uc010guz.1_Silent_p.S269S|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_5'Flank	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	388						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CAGGTGAGTCCTGGGATAAGA	0.582000														7			6		0	0	0.001168	0	0
CNGA2	1260	broad.mit.edu	37	X	150908125	150908125	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:150908125C>T	uc004fey.1	+	3	519	c.295C>T	c.(295-297)Cgt>Tgt	p.R99C		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 2 (CNGA2), mRNA.	99					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	p.R99L(1)		breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					CGAGCGTTTTCGTGGGCCTGA	0.552000														3			31		0	0	0.002836	0	0
SLC23A1	9963	broad.mit.edu	37	5	138714357	138714357	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:138714357C>T	uc003leg.3	-	9	1199	c.1102G>A	c.(1102-1104)Ggc>Agc	p.G368S	SLC23A1_uc003leh.3_Missense_Mutation_p.G364S	NM_152685	NP_689898	Q9UHI7	S23A1_HUMAN	Homo sapiens solute carrier family 23 (nucleobase transporters), member 1 (SLC23A1), transcript variant 2, mRNA.	364					brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	L-ascorbate:sodium symporter activity|dehydroascorbic acid transporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	CAGCAAATGCCTTCGGTGAAG	0.597000														7			6		0	0	0.003080	0	0
C16orf59	80178	broad.mit.edu	37	16	2512234	2512234	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:2512234G>A	uc002cqh.3	+	5	775	c.744G>A	c.(742-744)caG>caA	p.Q248Q	C16orf59_uc002cqg.2_Silent_p.Q81Q|C16orf59_uc002cqi.3_Silent_p.Q81Q|C16orf59_uc010uwb.2_Silent_p.Q81Q	NM_025108	NP_079384	Q7L2K0	CP059_HUMAN	Homo sapiens chromosome 16 open reading frame 59 (C16orf59), mRNA.	248										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				AGAACATGCAGACAGCTGTAT	0.632000														23			25		0	0	0.004656	0	0
GALNT13	114805	broad.mit.edu	37	2	154801077	154801077	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:154801077T>A	uc002tyt.4	+	0	171	c.67T>A	c.(67-69)Ttc>Atc	p.F23I	GALNT13_uc002tyr.4_Missense_Mutation_p.F23I	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA.	23						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TGTTGATGTCTTCTTACTGCT	0.423000														25			11		0	0	0.001368	0	0
SATL1	340562	broad.mit.edu	37	X	84363471	84363471	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:84363471C>T	uc004een.3	-	0	504	c.504G>A	c.(502-504)atG>atA	p.M168I		NM_001012980	NP_001012998	Q86VE3	SATL1_HUMAN	Homo sapiens spermidine/spermine N1-acetyl transferase-like 1 (SATL1), mRNA.	224	Gln-rich.						N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						CTGGTTGGCTCATGCCTATTT	0.552000											OREG0019887	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		2			34		0	0	0.004289	0	0
POLK	51426	broad.mit.edu	37	5	74879171	74879171	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:74879171A>G	uc003kdw.3	+	7	1084	c.988A>G	c.(988-990)Aat>Gat	p.N330D	POLK_uc003kdx.3_Non-coding_Transcript|POLK_uc003kdy.3_Non-coding_Transcript|POLK_uc003keb.3_Missense_Mutation_p.N330D|POLK_uc010izq.3_Intron|POLK_uc003kec.3_Missense_Mutation_p.N240D|POLK_uc010izr.3_Non-coding_Transcript|POLK_uc010izs.3_Non-coding_Transcript|POLK_uc003ked.3_Missense_Mutation_p.N240D|POLK_uc003kee.3_Missense_Mutation_p.N330D	NM_016218	NP_057302	Q9UBT6	POLK_HUMAN	Homo sapiens polymerase (DNA directed) kappa (POLK), mRNA.	330	UmuC.				DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	DNA-directed DNA polymerase activity|damaged DNA binding|metal ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		GAATAAACCAAATGGACAATA	0.318000								DNA polymerases (catalytic subunits)						45			33		0	0	0.002445	0	0
SYNE1	23345	broad.mit.edu	37	6	152647528	152647528	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:152647528T>C	uc021zhb.1	-	76	15419	c.15196A>G	c.(15196-15198)Acc>Gcc	p.T5066A	SYNE1_uc003qot.4_Missense_Mutation_p.T4995A|SYNE1_uc003qou.4_Missense_Mutation_p.T5066A|SYNE1_uc010kiz.3_Missense_Mutation_p.T821A	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	5066					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTTTGCCGGTTGGCTTGATG	0.527000										HNSCC(10;0.0054)				42			35		0	0	0.002836	0	0
IRF2BPL	64207	broad.mit.edu	37	14	77492302	77492302	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:77492302G>A	uc001xsy.3	-	0	2733	c.1834C>T	c.(1834-1836)Cca>Tca	p.P612S		NM_024496	NP_078772	Q9H1B7	I2BPL_HUMAN	Homo sapiens interferon regulatory factor 2 binding protein-like (IRF2BPL), mRNA.	612	Pro-rich.					nucleus				endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						GACTCAGGTGGGGTGGTCCGG	0.716000														3			9		0	0	0.006214	0	0
SELP	6403	broad.mit.edu	37	1	169559423	169559423	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:169559423C>T	uc001ggi.4	-	15	2521	c.2456G>A	c.(2455-2457)gGa>gAa	p.G819E	SELP_uc001ggh.3_Missense_Mutation_p.G614E|SELP_uc009wvr.3_Missense_Mutation_p.G818E	NM_003005	NP_002996	P16109	LYAM3_HUMAN	Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA.	819					platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	TGTAAAAACTCCATATGTTCC	0.378000														18			7		0	0	0.006214	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107460079	107460079	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:107460079T>A	uc002tdq.3	-	1	474	c.355A>T	c.(355-357)Aaa>Taa	p.K119*	ST6GAL2_uc002tdr.3_Nonsense_Mutation_p.K119*|ST6GAL2_uc002tds.3_Nonsense_Mutation_p.K119*	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	119					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CTTTGAGATTTTCTCCCCACC	0.527000														58			32		0	0	0.003755	0	0
BAZ2B	29994	broad.mit.edu	37	2	160289765	160289765	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:160289765G>A	uc002uao.3	-	8	1808	c.1403C>T	c.(1402-1404)cCa>cTa	p.P468L	BAZ2B_uc002uap.3_Missense_Mutation_p.P466L|BAZ2B_uc002uas.1_Missense_Mutation_p.P405L|BAZ2B_uc002uaq.1_Missense_Mutation_p.P396L|BAZ2B_uc002uar.1_Missense_Mutation_p.P41L	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2B (BAZ2B), mRNA.	468					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TGGATGTGCTGGTGAACTAGA	0.388000														82			38		0	0	0.001951	0	0
DSCAM	1826	broad.mit.edu	37	21	41414346	41414346	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr21:41414346C>T	uc002yyq.1	-	31	6090	c.5638G>A	c.(5638-5640)Gat>Aat	p.D1880N	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1880					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTTCCTCCATCCTGAGGTTTG	0.567000														27			18		0	0	0.001523	0	0
MYCN	4613	broad.mit.edu	37	2	16082277	16082277	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:16082277G>A	uc002rci.3	+	1	391	c.91G>A	c.(91-93)Gac>Aac	p.D31N	MYCNOS_uc002rch.1_5'Flank|MYCN_uc010yjr.2_Missense_Mutation_p.D31N	NM_005378	NP_005369	P04198	MYCN_HUMAN	Homo sapiens v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian) (MYCN), mRNA.	31					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			CTTCTACCCGGACGAAGATGA	0.642000			A		neuroblastoma									23			17		0	0	0.004990	0	0
PRPF18	8559	broad.mit.edu	37	10	13658444	13658444	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:13658444C>T	uc001imp.3	+	8	987	c.839C>T	c.(838-840)cCc>cTc	p.P280L	PRPF18_uc001imq.3_Non-coding_Transcript	NM_003675	NP_003666	Q99633	PRP18_HUMAN	Homo sapiens PRP18 pre-mRNA processing factor 18 homolog (S. cerevisiae) (PRPF18), mRNA.	280					RNA splicing|mRNA processing	nuclear speck|spliceosomal complex				central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						GCGCCTTGGCCCATCGGTGTC	0.428000														44			40		0	0	0.003214	0	0
SMPD4	55627	broad.mit.edu	37	2	130914230	130914230	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:130914230G>A	uc002tqq.2	-	12	2382	c.1233C>T	c.(1231-1233)ttC>ttT	p.F411F	SMPD4_uc002tqo.2_5'UTR|SMPD4_uc002tqp.2_Silent_p.F150F|SMPD4_uc010yzy.2_Silent_p.F160F|SMPD4_uc010yzz.2_Silent_p.F75F|SMPD4_uc002tqs.2_Silent_p.F279F|SMPD4_uc002tqr.2_Silent_p.F382F|SMPD4_uc010zaa.2_Silent_p.F269F|SMPD4_uc010zab.2_Silent_p.F309F|SMPD4_uc002tqt.2_Silent_p.F260F|SMPD4_uc010zac.2_Silent_p.F152F|SMPD4_uc010zad.2_Silent_p.F47F	NM_017951	NP_060421	Q9NXE4	NSMA3_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) (SMPD4), transcript variant 2, mRNA.	372					sphingomyelin catabolic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase D activity|sphingomyelin phosphodiesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	TCTGCTGGACGAACCTCGGGA	0.617000														6			5		0	0	0.001168	0	0
S1PR4	8698	broad.mit.edu	37	19	3179084	3179084	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:3179084C>T	uc002lxg.3	+	0	349	c.294C>T	c.(292-294)gcC>gcT	p.A98A		NM_003775	NP_003766	O95977	S1PR4_HUMAN	Homo sapiens sphingosine-1-phosphate receptor 4 (S1PR4), mRNA.	98					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						CGGGCGCGGCCTACCTGGCCA	0.687000														19			17		0	0	0.004007	0	0
UBE2E2	7325	broad.mit.edu	37	3	23574145	23574145	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:23574145C>T	uc003ccg.2	+	4	641	c.461C>T	c.(460-462)tCt>tTt	p.S154F	UBE2E2_uc010hfc.2_Non-coding_Transcript|MIR548AC_uc021wtz.1_Intron	NM_152653	NP_689866	Q96LR5	UB2E2_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2E 2 (UBE2E2), mRNA.	154					ISG15-protein conjugation|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination	nucleolus	ATP binding|ISG15 ligase activity|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(2)	10						TTAACTATTTCTAAAGTTCTC	0.388000														16			33		0	0	0.004289	0	0
SLC2A4	6517	broad.mit.edu	37	17	7189135	7189135	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:7189135A>C	uc002gfp.3	+	9	1434	c.1234A>C	c.(1234-1236)Agc>Cgc	p.S412R	SLC2A4_uc010cmd.3_Non-coding_Transcript|SLC2A4_uc021tpa.1_Missense_Mutation_p.S402R	NM_001042	NP_001033	P14672	GTR4_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 4 (SLC2A4), mRNA.	412					carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						CGAGCTCTTCAGCCAGGGACC	0.567000														16			33		0	0	0.003755	0	0
MED17	9440	broad.mit.edu	37	11	93521326	93521326	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:93521326C>T	uc001pem.4	+	1	685	c.410C>T	c.(409-411)cCa>cTa	p.P137L	MED17_uc001pel.2_Missense_Mutation_p.P137L	NM_004268	NP_004259	Q9NVC6	MED17_HUMAN	Homo sapiens mediator complex subunit 17 (MED17), mRNA.	137					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GCACTTCCTCCAAAACAGGTA	0.358000														22			17		0	0	0.004990	0	0
ERC2	26059	broad.mit.edu	37	3	56468424	56468424	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:56468424C>T	uc021wzo.1	-	0	752	c.612G>A	c.(610-612)atG>atA	p.M204I	ERC2_uc003dhr.1_Missense_Mutation_p.M204I	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	204						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TGAGGACAGACATCCGCGCTG	0.458000														26			13		0	0	0.001368	0	0
CC2D1B	200014	broad.mit.edu	37	1	52824027	52824027	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:52824027G>A	uc001ctq.2	-	12	1588	c.1437C>T	c.(1435-1437)gcC>gcT	p.A479A	CC2D1B_uc001ctr.3_Silent_p.A25A|CC2D1B_uc001cts.3_Silent_p.A170A	NM_032449	NP_115825	Q5T0F9	C2D1B_HUMAN	Homo sapiens coiled-coil and C2 domain containing 1B (CC2D1B), mRNA.	479										breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						TATCAGCCGGGGCTGAATCCT	0.592000														9			43		0	0	0.001951	0	0
SMAD3	4088	broad.mit.edu	37	15	67482774	67482774	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:67482774C>T	uc002aqj.3	+	8	1476	c.1178C>T	c.(1177-1179)cCc>cTc	p.P393L	SMAD3_uc010ujr.2_Missense_Mutation_p.P288L|SMAD3_uc010ujs.2_Missense_Mutation_p.P349L|SMAD3_uc010ujt.2_Missense_Mutation_p.P198L	NM_005902	NP_001138576	P84022	SMAD3_HUMAN	Homo sapiens SMAD family member 3 (SMAD3), transcript variant 1, mRNA.	393	MH2.		P -> L (in a colorectal cancer sample; somatic mutation).		SMAD protein complex assembly|activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	R-SMAD binding|RNA polymerase II activating transcription factor binding|beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding	p.P393L(2)|p.P393T(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		ACCAGTACCCCCTGCTGGATT	0.527000														4			46		0	0	0.003610	0	0
OBSCN	84033	broad.mit.edu	37	1	228503767	228503767	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:228503767G>A	uc009xez.1	+	49	13276	c.13232G>A	c.(13231-13233)cGg>cAg	p.R4411Q	OBSCN_uc001hsn.3_Missense_Mutation_p.R4411Q	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	4411	Ig-like 45.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GACAGCTGCCGGGTGACCTTC	0.622000														2			6		0	0	0.001984	0	0
MSH3	4437	broad.mit.edu	37	5	79970818	79970818	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:79970818C>T	uc003kgz.3	+	6	1297	c.1044C>T	c.(1042-1044)atC>atT	p.I348I		NM_002439	NP_002430	P20585	MSH3_HUMAN	Homo sapiens mutS homolog 3 (E. coli) (MSH3), mRNA.	348					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|Y-form DNA binding|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		ATCCCCTAATCAAGCTGGATG	0.279000								Mismatch excision repair (MMR)						7			9		0	0	0.004482	0	0
ZNF592	9640	broad.mit.edu	37	15	85327838	85327838	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:85327838C>T	uc002bld.3	+	3	2268	c.1932C>T	c.(1930-1932)ctC>ctT	p.L644L	ZNF592_uc010upb.2_Non-coding_Transcript	NM_014630	NP_055445	Q92610	ZN592_HUMAN	Homo sapiens zinc finger protein 592 (ZNF592), mRNA.	644					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCAAGGGGCTCGTCATGCAGT	0.597000														1			38		0	0	0.007835	0	0
OR6C65	403282	broad.mit.edu	37	12	55794783	55794783	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:55794783C>T	uc010spl.2	+	0	471	c.471C>T	c.(469-471)ccC>ccT	p.P157P		NM_001005518	NP_001005518	A6NJZ3	O6C65_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 65 (OR6C65), mRNA.	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						TTTTTCCCCCCGTGATTATGG	0.438000														81			40		0	0	0.002522	0	0
PALMD	54873	broad.mit.edu	37	1	100154781	100154781	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:100154781C>T	uc001dsg.3	+	6	1408	c.965C>T	c.(964-966)cCc>cTc	p.P322L		NM_017734	NP_060204	Q9NP74	PALMD_HUMAN	Homo sapiens palmdelphin (PALMD), mRNA.	322					regulation of cell shape	cytoplasm|membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		CACATCAGTCCCATTCCGCCA	0.438000														0			14		0	0	0.002450	0	0
KPRP	448834	broad.mit.edu	37	1	152732594	152732594	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:152732594G>A	uc001fal.1	+	1	588	c.530G>A	c.(529-531)aGa>aAa	p.R177K	KPRP_uc021ozf.1_Missense_Mutation_p.R177K	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	177	Gln-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCAGGGAAGATTCTCCACC	0.542000														55			23		0	0	0.001882	0	0
DHX57	90957	broad.mit.edu	37	2	39088661	39088661	+	Silent	SNP	T	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:39088661T>C	uc002rrf.3	-	4	990	c.891A>G	c.(889-891)gtA>gtG	p.V297V	DHX57_uc002rre.3_5'UTR|DHX57_uc002rrg.3_Silent_p.V297V	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 (DHX57), mRNA.	297							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				AATTCTCTTGTACATTTTTGG	0.353000														33			30		0	0	0.001786	0	0
SYNM	23336	broad.mit.edu	37	15	99672376	99672376	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:99672376G>A	uc002bup.3	+	4	3928	c.3808G>A	c.(3808-3810)Gaa>Aaa	p.E1270K	SYNM_uc002buo.3_Intron|SYNM_uc002buq.3_Intron	NM_145728	NP_663780	O15061	SYNEM_HUMAN	Homo sapiens synemin, intermediate filament protein (SYNM), transcript variant A, mRNA.	1271	Interaction with DMD and UTRN.|Interaction with TLN1 and VCL.|Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						AGGCCCTAAAGAAGGGTTCAG	0.512000														2			49		0	0	0.003610	0	0
ERBB2	2064	broad.mit.edu	37	17	37882045	37882045	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:37882045G>A	uc002hso.3	+	22	3049	c.2811G>A	c.(2809-2811)aaG>aaA	p.K937K	ERBB2_uc010cwa.3_Silent_p.K922K|ERBB2_uc002hsm.3_Silent_p.K907K|ERBB2_uc002hsp.3_Silent_p.K740K|ERBB2_uc010cwb.3_Silent_p.K937K|ERBB2_uc010wek.2_Silent_p.K661K|MIR4728_uc021twt.1_5'Flank	NM_004448	NP_001005862	P04626	ERBB2_HUMAN	Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) (ERBB2), transcript variant 1, mRNA.	937	Protein kinase.				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of MAP kinase activity|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|ErbB-3 class receptor binding|epidermal growth factor receptor activity|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	TGCTGGAAAAGGGGGAGCGGC	0.592000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)				39			19		0	0	0.002299	0	0
HSPG2	3339	broad.mit.edu	37	1	22156492	22156492	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:22156492C>T	uc009vqd.3	-	85	11807	c.11767G>A	c.(11767-11769)Gag>Aag	p.E3923K	HSPG2_uc001bfi.3_5'UTR|HSPG2_uc001bfj.3_Missense_Mutation_p.E3922K	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	3922					angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TCACCTTCCTCACACCGCAAC	0.697000														6			10		0	0	0.000978	0	0
OR56B1	387748	broad.mit.edu	37	11	5757774	5757774	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:5757774A>T	uc001mbt.2	+	0	97	c.28A>T	c.(28-30)Atc>Ttc	p.I10F	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron|OR56B1_uc001mbs.1_Missense_Mutation_p.I10F|OR56B1_uc009yev.1_Missense_Mutation_p.I10F	NM_001005180	NP_001005180	Q8NGI3	O56B1_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily B, member 1 (OR56B1), mRNA.	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		ATCTCTCAAAATCTCCAATAG	0.433000														11			5		0	0	0.000602	0	0
C4BPA	722	broad.mit.edu	37	1	207297685	207297685	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:207297685G>A	uc001hfo.3	+	5	874	c.680G>A	c.(679-681)tGg>tAg	p.W227*		NM_000715	NP_000706	P04003	C4BPA_HUMAN	Homo sapiens complement component 4 binding protein, alpha (C4BPA), mRNA.	227	Sushi 3.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						ATAGGTGTTTGGAGACCAAGC	0.423000														8			25		0	0	0.005443	0	0
MGA	23269	broad.mit.edu	37	15	41962017	41962017	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:41962017C>T	uc010ucy.2	+	1	1106	c.925C>T	c.(925-927)Cct>Tct	p.P309S	MGA_uc001zog.1_Missense_Mutation_p.P309S|MGA_uc010ucz.2_Missense_Mutation_p.P309S	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	309						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TGATTTGGATCCTTTGTCAAG	0.443000														2			24		0	0	0.002299	0	0
FKBPL	63943	broad.mit.edu	37	6	32097394	32097394	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:32097394G>A	uc003nzr.3	-	1	434	c.164C>T	c.(163-165)cCa>cTa	p.P55L	ATF6B_uc003nzn.3_5'Flank|ATF6B_uc003nzo.3_5'Flank|ATF6B_uc011dpg.2_5'Flank|ATF6B_uc011dph.2_5'Flank|FKBPL_uc021yvh.1_Missense_Mutation_p.P55L	NM_022110	NP_071393	Q9UIM3	FKBPL_HUMAN	Homo sapiens FK506 binding protein like (FKBPL), mRNA.	55					response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity										TTGGCTGGCTGGATCTGGGCT	0.483000														315			145		0	0	0.003610	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634974	70634974	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:70634974C>T	uc001xly.3	-	1	920	c.166G>A	c.(166-168)Gag>Aag	p.E56K	SLC8A3_uc001xlw.3_Missense_Mutation_p.E56K|SLC8A3_uc001xlx.3_Missense_Mutation_p.E56K|SLC8A3_uc001xlz.3_Missense_Mutation_p.E56K|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	56					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		ATGACACCCTCCTTGCAGTCC	0.547000														15			11		0	0	0.001855	0	0
FAM171B	165215	broad.mit.edu	37	2	187615976	187615976	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:187615976G>A	uc002ups.3	+	4	952	c.840G>A	c.(838-840)ctG>ctA	p.L280L	FAM171B_uc002upr.1_Silent_p.L280L	NM_177454	NP_803237	Q6P995	F171B_HUMAN	Homo sapiens family with sequence similarity 171, member B (FAM171B), mRNA.	280						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TTCTACGTCTGAATGATATAA	0.363000														8			36		0	0	0.002836	0	0
ITGAM	3684	broad.mit.edu	37	16	31308949	31308949	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:31308949G>T	uc002ebr.3	+	12	1569	c.1471G>T	c.(1471-1473)Gtg>Ttg	p.V491L	ITGAM_uc002ebq.3_Missense_Mutation_p.V491L|ITGAM_uc010cam.1_Missense_Mutation_p.G94V|ITGAM_uc010can.3_5'UTR	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	491					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						AGGGGGCCAGGTGTCCGTGTG	0.706000														32			27		2.65835e-16	3.71806e-16	0.007291	1	0
SEMA3F	6405	broad.mit.edu	37	3	50225292	50225292	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:50225292C>T	uc003cyj.3	+	18	2300	c.2102C>T	c.(2101-2103)gCc>gTc	p.A701V	SEMA3F_uc003cyk.3_Missense_Mutation_p.A670V	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F (SEMA3F), mRNA.	701					axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		GGCCGGGACGCCGTCCATGCT	0.642000														11			4		0	0	0.000248	0	0
IL3RA	3563	broad.mit.edu	37	X	1477780	1477780	+	Splice_Site	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:1477780G>A	uc004cps.3	+	8	1108	c.759_splice	c.e8+1	p.Q253_splice	CRLF2_uc022brt.1_Intron|IL3RA_uc011mhd.2_Splice_Site_p.Q175_splice	NM_002183	NP_002174	P26951	IL3RA_HUMAN	Homo sapiens interleukin 3 receptor, alpha (low affinity) (IL3RA), mRNA.	253						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TCACAGAACAGGTGAGTGTTC	0.388000														35			26		0	0	0.002445	0	0
HS6ST3	266722	broad.mit.edu	37	13	97485323	97485324	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:97485323_97485324GG>AA	uc001vmw.3	+	1	1311_1312	c.1287_1288GG>AA	c.(1285-1290)agggac>agAAac	p.D430N		NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN	Homo sapiens heparan sulfate 6-O-sulfotransferase 3 (HS6ST3), mRNA.	430						integral to membrane	sulfotransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					AGCACCAGAGGGACCGCCAGAA	0.584000														31			9		0	0	0.004672	0	0
MASP1	5648	broad.mit.edu	37	3	186943152	186943152	+	Silent	SNP	G	A	A	rs147189329	by1000genomes	TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:186943152G>A	uc003frh.2	-	12	2091	c.1701C>T	c.(1699-1701)ttC>ttT	p.F567F		NM_001879	NP_001870	P48740	MASP1_HUMAN	Homo sapiens mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) (MASP1), transcript variant 1, mRNA.	567	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		TGGGCATCACGAAGGCATTCA	0.582000														38			19		0	0	0.002299	0	0
TMEM33	55161	broad.mit.edu	37	4	41951391	41951391	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:41951391C>T	uc003gwi.2	+	5	968	c.603C>T	c.(601-603)aaC>aaT	p.N201N	TMEM33_uc010ifw.2_Non-coding_Transcript	NM_018126	NP_060596	P57088	TMM33_HUMAN	Homo sapiens transmembrane protein 33 (TMEM33), mRNA.	201						integral to membrane|melanosome	protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9						CTCGAAGAAACCCATATTGTC	0.323000														26			10		0	0	0.006214	0	0
LAMA2	3908	broad.mit.edu	37	6	129774192	129774192	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:129774192G>A	uc021zfb.1	+	45	6594	c.6489G>A	c.(6487-6489)aaG>aaA	p.K2163K	LAMA2_uc003qbn.3_Silent_p.K2161K|LAMA2_uc003qbo.3_Silent_p.K2161K	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	2163	Laminin G-like 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CAGAAATCAAGAAAGGAAGTT	0.338000														11			12		0	0	0.001368	0	0
NOP16	51491	broad.mit.edu	37	5	175811271	175811271	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:175811271G>A	uc003mee.3	-	4	410	c.410C>T	c.(409-411)tCc>tTc	p.S137F	NOP16_uc003med.3_Missense_Mutation_p.S136F|NOP16_uc011dfl.2_Silent_p.F166F			Q9Y3C1	NOP16_HUMAN	Homo sapiens NOP16 nucleolar protein homolog (yeast) (NOP16), mRNA.	0						nucleolus				central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						AAGAATCGAGGAAGTCTTGCC	0.507000														31			24		0	0	0.003954	0	0
LATS1	9113	broad.mit.edu	37	6	150022976	150022976	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:150022976C>T	uc003qmu.1	-	1	835	c.287G>A	c.(286-288)cGg>cAg	p.R96Q	LATS1_uc010kif.1_5'UTR|LATS1_uc003qmv.2_Missense_Mutation_p.R96Q|LATS1_uc003qmw.3_Missense_Mutation_p.R96Q|LATS1_uc010kig.1_5'UTR	NM_004690	NP_004681	O95835	LATS1_HUMAN	Homo sapiens LATS, large tumor suppressor, homolog 1 (Drosophila) (LATS1), mRNA.	96			R -> W (in dbSNP:rs55945045).		G2/M transition of mitotic cell cycle|cell division|cytoplasmic sequestering of protein|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity	p.R96L(2)		central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TGAAGTACTCCGAGAAGAATT	0.388000														70			36		0	0	0.006230	0	0
KIF14	9928	broad.mit.edu	37	1	200522619	200522619	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:200522619C>T	uc010ppk.1	-	29	5283	c.4844G>A	c.(4843-4845)gGc>gAc	p.G1615D	KIF14_uc010ppj.1_Missense_Mutation_p.G1124D	NM_014875	NP_055690	Q15058	KIF14_HUMAN	Homo sapiens kinesin family member 14 (KIF14), mRNA.	1615	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						ATTCTTACTGCCGTCAATCCC	0.443000														26			48		0	0	0.003610	0	0
MYOM1	8736	broad.mit.edu	37	18	3134663	3134663	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:3134663G>A	uc002klp.3	-	15	2703	c.2369C>T	c.(2368-2370)cCc>cTc	p.P790L	MYOM1_uc002klq.3_Missense_Mutation_p.P790L	NM_003803	NP_003794	P52179	MYOM1_HUMAN	Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.	790	Fibronectin type-III 3.					striated muscle myosin thick filament	structural constituent of muscle	p.P790P(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GCCCTTCACGGGGTTGTTGTT	0.577000														19			7		0	0	0.003080	0	0
SLC17A7	57030	broad.mit.edu	37	19	49933980	49933980	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:49933980C>T	uc002pnp.3	-	11	1651	c.1479G>A	c.(1477-1479)gaG>gaA	p.E493E	SLC17A7_uc002pno.3_Silent_p.E155E	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7 (SLC17A7), mRNA.	493					glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		ACGGCTGCTTCTCTCCAGAAG	0.582000														33			27		0	0	0.006320	0	0
PDE3A	5139	broad.mit.edu	37	12	20799791	20799792	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:20799791_20799792GG>AA	uc001reh.2	+	11	2512_2513	c.2472_2473GG>AA	c.(2470-2475)ttggag>ttAAag	p.E825K	PDE3A_uc021qwa.1_Missense_Mutation_p.E503K	NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	825	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TCCCTGCCTTGGAGTTGATGGC	0.436000														59			25		0	0	0.004672	0	0
LEPREL1	55214	broad.mit.edu	37	3	189713145	189713145	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:189713145C>T	uc011bsk.2	-	1	955	c.567G>A	c.(565-567)gaG>gaA	p.E189E	LEPREL1_uc003fsg.3_Silent_p.E8E	NM_018192	NP_001127890	Q8IVL5	P3H2_HUMAN	Homo sapiens leprecan-like 1 (LEPREL1), transcript variant 1, mRNA.	189					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	Golgi apparatus|basement membrane|endoplasmic reticulum	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CCCTGTAATTCTCAATGTTCT	0.498000														16			9		0	0	0.006214	0	0
AKAP6	9472	broad.mit.edu	37	14	33069994	33069994	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:33069994C>T	uc001wrq.3	+	6	2896	c.2726C>T	c.(2725-2727)cCc>cTc	p.P909L	AKAP6_uc010aml.3_Missense_Mutation_p.P906L	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	909					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		ACTGGAAGCCCCAAGGTAAGT	0.468000														34			18		0	0	0.001523	0	0
CASR	846	broad.mit.edu	37	3	122001003	122001003	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:122001003G>A	uc003eew.4	+	5	2120	c.1682G>A	c.(1681-1683)aGg>aAg	p.R561K	CASR_uc003eev.4_Missense_Mutation_p.R551K	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	551					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GCAGGGACCAGGAAAGGGATC	0.587000														41			57		0	0	0.003610	0	0
HACL1	26061	broad.mit.edu	37	3	15628049	15628049	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:15628049G>A	uc003caf.3	-	5	602	c.442C>T	c.(442-444)Cct>Tct	p.P148S	HACL1_uc011avr.1_Intron|HACL1_uc010hep.3_Intron|HACL1_uc011avs.2_Missense_Mutation_p.P121S|HACL1_uc011avt.2_Intron|HACL1_uc003cag.3_5'UTR|HACL1_uc011avu.2_Intron	NM_012260	NP_036392	Q9UJ83	HACL1_HUMAN	Homo sapiens 2-hydroxyacyl-CoA lyase 1 (HACL1), mRNA.	148					fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						ATAACAAAAGGAATAGCTTCT	0.338000														36			20		0	0	0.002780	0	0
CROCCP2	84809	broad.mit.edu	37	1	16952910	16952910	+	RNA	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:16952910G>A	uc010ocf.2	-	0		c.85C>T			CROCCP2_uc009vov.2_Non-coding_Transcript|CROCCP2_uc001aze.3_Non-coding_Transcript|CROCCP2_uc001azf.3_Non-coding_Transcript|CROCCP2_uc001azg.1_Non-coding_Transcript					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA.																		AGGGCGCTCAGCTTGGACAGG	0.642000														69			6		0	0	0.003080	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38609958	38609958	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:38609958C>T	uc002ohk.3	+	8	2813	c.2304C>T	c.(2302-2304)acC>acT	p.T768T		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	768	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TGGCTGTGACCCGATCCAAAG	0.483000														34			32		0	0	0.004878	0	0
CYP2C8	1558	broad.mit.edu	37	10	96818163	96818163	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:96818163C>T	uc001kkb.3	-	4	843	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K	CYP2C8_uc010qoa.2_Missense_Mutation_p.E180K|CYP2C8_uc010qoc.2_Missense_Mutation_p.E148K|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_Missense_Mutation_p.E164K|CYP2C8_uc021pwl.1_Missense_Mutation_p.E180K|CYP2C8_uc010qod.1_Missense_Mutation_p.E164K	NM_000770	NP_000761	P10632	CP2C8_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	250					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)	GCTTGGTGTTCTTTTACTTTC	0.373000														18			8		0	0	0.003080	0	0
GRM6	2916	broad.mit.edu	37	5	178415971	178415971	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:178415971A>G	uc003mjr.3	-	5	1498	c.1319T>C	c.(1318-1320)aTg>aCg	p.M440T	GRM6_uc010jla.1_Missense_Mutation_p.M23T|GRM6_uc003mjs.1_Missense_Mutation_p.M60T	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	440					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CTGCAGAAGCATCCGCCCATC	0.642000														23			6		0	0	0.001168	0	0
CCDC65	85478	broad.mit.edu	37	12	49298807	49298807	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:49298807G>A	uc001rso.3	+	1	438	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K		NM_033124	NP_149115	Q8IXS2	CCD65_HUMAN	Homo sapiens coiled-coil domain containing 65 (CCDC65), mRNA.	71								p.R70L(1)		breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						TGTCCTTCGGGAAGTCAAGAC	0.443000														35			10		0	0	0.006214	0	0
EXOC7	23265	broad.mit.edu	37	17	74079831	74079832	+	Splice_Site	DNP	CC	TT	TT			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:74079831_74079832CC>TT	uc002jqs.3	-	20	2201	c.2106_splice	c.e20-1	p.K702_splice	EXOC7_uc002jqp.2_Splice_Site_p.S164_splice|EXOC7_uc010dgv.2_Splice_Site_p.K576_splice|EXOC7_uc010wsv.2_Splice_Site_p.K623_splice|EXOC7_uc010wsw.2_Splice_Site_p.K674_splice|EXOC7_uc002jqq.3_Splice_Site_p.K651_splice|EXOC7_uc010wsx.2_Splice_Site_p.K643_splice|EXOC7_uc002jqr.3_Splice_Site_p.K620_splice	NM_001145297	NP_001138769	Q9UPT5	EXOC7_HUMAN	Homo sapiens exocyst complex component 7 (EXOC7), transcript variant 4, mRNA.	702					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			CGCTGCCAAACCTGAGGAGGCA	0.614000														18			11		0	0	0.004672	0	0
PCDH1	5097	broad.mit.edu	37	5	141244782	141244783	+	Nonsense_Mutation	DNP	GG	AT	AT			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:141244782_141244783GG>AT	uc003llp.3	-	2	1230_1231	c.1113_1114CC>AT	c.(1111-1116)gcccag>gcATag	p.Q372*	PCDH1_uc011dbf.2_Nonsense_Mutation_p.Q350*|PCDH1_uc003llq.3_Nonsense_Mutation_p.Q372*	NM_032420	NP_115796	Q08174	PCDH1_HUMAN	Homo sapiens protocadherin 1 (PCDH1), transcript variant 2, mRNA.	372	Cadherin 3.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		ACAACCACCTGGGCACGGGCAC	0.569000														64			51		0	0	0.004672	0	0
C11orf24	53838	broad.mit.edu	37	11	68029831	68029831	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:68029831G>A	uc001onr.4	-	3	1074	c.632C>T	c.(631-633)gCc>gTc	p.A211V		NM_022338	NP_071733	Q96F05	CK024_HUMAN	Homo sapiens chromosome 11 open reading frame 24 (C11orf24), mRNA.	211						integral to membrane				endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						AGCACGTGTGGCCAATGTGGC	0.602000														43			37		0	0	0.006230	0	0
PODN	127435	broad.mit.edu	37	1	53546449	53546449	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:53546449C>T	uc001cuv.3	+	8	1874	c.1706C>T	c.(1705-1707)cCc>cTc	p.P569L	PODN_uc010onr.2_Missense_Mutation_p.P550L|PODN_uc010ons.2_Missense_Mutation_p.P427L|PODN_uc001cuw.3_Missense_Mutation_p.P550L	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN	Homo sapiens podocan (PODN), transcript variant 1, mRNA.	521					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GAGGGGCTCCCCGAGTCACTT	0.587000														29			6		0	0	0.001168	0	0
DNAH12	201625	broad.mit.edu	37	3	57493467	57493467	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:57493467A>G	uc003dit.2	-	7	981	c.800T>C	c.(799-801)gTt>gCt	p.V267A	DNAH12_uc003diu.2_Missense_Mutation_p.V267A	NM_178504	NP_848599	Q6ZR08	DYH12_HUMAN	Homo sapiens dynein, axonemal, heavy chain 12 (DNAH12), transcript variant 1, mRNA.	267	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						GAGATTTATAACCTTTGGATA	0.353000														41			17		0	0	0.001216	0	0
ZNF347	84671	broad.mit.edu	37	19	53644084	53644084	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:53644084G>A	uc002qbc.2	-	4	2427	c.2000C>T	c.(1999-2001)tCa>tTa	p.S667L	ZNF347_uc002qbb.2_Missense_Mutation_p.S666L|ZNF347_uc010eql.2_Missense_Mutation_p.S667L	NM_001172674	NP_001166146	Q96SE7	ZN347_HUMAN	Homo sapiens zinc finger protein 347 (ZNF347), transcript variant 1, mRNA.	666					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H667Q(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TGCAAGGTGTGAATTCTGAGT	0.418000														36			33		0	0	0.006999	0	0
TPSG1	25823	broad.mit.edu	37	16	1272880	1272880	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:1272880C>T	uc002ckw.2	-	3	285	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K		NM_012467	NP_036599	Q9NRR2	TRYG1_HUMAN	Homo sapiens tryptase gamma 1 (TPSG1), mRNA.	95	Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			liver(1)|lung(2)|skin(1)	4		Hepatocellular(780;0.00369)				ATCTCCAGTTCCCCCAGGTGC	0.657000														14			12		0	0	0.001855	0	0
SHC3	53358	broad.mit.edu	37	9	91652975	91652975	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:91652975G>A	uc004aqf.2	-	10	1896	c.1589C>T	c.(1588-1590)tCc>tTc	p.S530F		NM_016848	NP_058544	Q92529	SHC3_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) transforming protein 3 (SHC3), mRNA.	530	SH2.				Ras protein signal transduction|central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						GAGGACAAAGGAGCCCGGGTT	0.632000														39			80		0	0	0.003610	0	0
TCF12	6938	broad.mit.edu	37	15	57356001	57356001	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:57356001C>T	uc002aec.3	+	3	486	c.202C>T	c.(202-204)Cct>Tct	p.P68S	TCF12_uc010ugm.1_Missense_Mutation_p.P120S|TCF12_uc010ugn.1_Intron|TCF12_uc002aea.3_Missense_Mutation_p.P68S|TCF12_uc010bfs.3_Intron|TCF12_uc002aeb.3_Missense_Mutation_p.P68S|TCF12_uc002aed.3_Missense_Mutation_p.P68S	NM_207038	NP_996921	Q99081	HTF4_HUMAN	Homo sapiens transcription factor 12 (TCF12), transcript variant 4, mRNA.	68					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		TCAACCAAGTCCTTCCTATGA	0.333000			T	TEC	extraskeletal myxoid chondrosarcoma									55			84		0	0	0.003610	0	0
HKDC1	80201	broad.mit.edu	37	10	71005962	71005962	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:71005962G>A	uc001jpf.4	+	7	1136	c.1003G>A	c.(1003-1005)Gaa>Aaa	p.E335K	HKDC1_uc010qje.2_Missense_Mutation_p.E198K	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	Homo sapiens hexokinase domain containing 1 (HKDC1), mRNA.	335					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GGGCAAGATCGAAACACGGCA	0.582000														23			28		0	0	0.002096	0	0
OR8B3	390271	broad.mit.edu	37	11	124266365	124266365	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:124266365C>T	uc010saj.2	-	0	883	c.883G>A	c.(883-885)Gat>Aat	p.D295N	OR8B2_uc001qab.3_Intron	NM_001005467	NP_001005467	Q8NGG8	OR8B3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 3 (OR8B3), mRNA.	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		ACTTTGACATCCTTGTTCCTC	0.348000														23			7		0	0	0.001984	0	0
ALG2	85365	broad.mit.edu	37	9	101980832	101980832	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:101980832A>G	uc004azf.3	-	1	705	c.635T>C	c.(634-636)gTt>gCt	p.V212A	ALG2_uc004azg.3_Missense_Mutation_p.V119A	NM_033087	NP_149078	Q9H553	ALG2_HUMAN	Homo sapiens asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog (S. cerevisiae) (ALG2), transcript variant 1, mRNA.	212					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein glycosylation in endoplasmic reticulum|response to calcium ion	endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein N-terminus binding|protein anchor|protein heterodimerization activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22		Acute lymphoblastic leukemia(62;0.0559)				CTTTTCAGGAACAACTGAGTC	0.438000														54			21		0	0	0.002780	0	0
GMIP	51291	broad.mit.edu	37	19	19747546	19747546	+	Missense_Mutation	SNP	G	A	A	rs144451705		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:19747546G>A	uc002nnd.3	-	12	1414	c.1297C>T	c.(1297-1299)Cgg>Tgg	p.R433W	GMIP_uc010xrb.2_Missense_Mutation_p.R433W|GMIP_uc010xrc.2_Missense_Mutation_p.R430W	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	Homo sapiens GEM interacting protein (GMIP), mRNA.	433					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity|metal ion binding|protein binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TCCAGGGACCGAGACTCGCTG	0.637000														36			26		0	0	0.003271	0	0
CALY	50632	broad.mit.edu	37	10	135140382	135140382	+	Splice_Site	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:135140382C>T	uc001lmo.2	-	4	518	c.360_splice	c.e4+1	p.R120_splice	ZNF511_uc021qbf.1_Intron|BC047942_uc001lmn.3_5'Flank	NM_015722	NP_056537	Q9NYX4	CALY_HUMAN	Homo sapiens calcyon neuron-specific vesicular protein (CALY), mRNA.	120					clathrin coat assembly|dopamine receptor signaling pathway|endocytosis|positive regulation of endocytosis	cytoplasmic vesicle membrane|integral to plasma membrane	clathrin light chain binding|dopamine receptor binding			kidney(1)|lung(2)	3		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;6.94e-06)|OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)	Apomorphine(DB00714)|Clozapine(DB00363)|Flupenthixol(DB00875)|Trifluoperazine(DB00831)	GCCCCCTTACCCGCAGCAGGA	0.672000														15			5		0	0	0.000602	0	0
CDH17	1015	broad.mit.edu	37	8	95186484	95186484	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:95186484C>T	uc003ygh.2	-	5	554	c.429G>A	c.(427-429)aaG>aaA	p.K143K	CDH17_uc011lgo.1_Intron|CDH17_uc011lgp.1_Silent_p.K143K	NM_004063	NP_004054	Q12864	CAD17_HUMAN	Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA.	143	Cadherin 2.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			ACAAGAAGGGCTTTCCTGTTT	0.398000														49			13		0	0	0.003163	0	0
FBXO18	84893	broad.mit.edu	37	10	5979147	5979147	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:5979147C>T	uc001iit.3	+	21	3293	c.3189C>T	c.(3187-3189)ttC>ttT	p.F1063F	FBXO18_uc001iir.3_Silent_p.F955F|FBXO18_uc001iis.3_Silent_p.F1012F|FBXO18_uc009xig.3_Silent_p.F938F	NM_032807	NP_835363	Q8NFZ0	FBX18_HUMAN	Homo sapiens F-box protein, helicase, 18 (FBXO18), transcript variant 1, mRNA.	1012					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	p.A1062E(1)		NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						CCCTGGCGTTCCTGACAGCCT	0.632000														22			17		0	0	0.006122	0	0
OR4D11	219986	broad.mit.edu	37	11	59271453	59271453	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:59271453C>T	uc001noa.1	+	0	405	c.405C>T	c.(403-405)atC>atT	p.I135I		NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 11 (OR4D11), mRNA.	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						ATGTGACCATCATGAGTAGAG	0.537000														68			46		0	0	0.002852	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4925489	4925489	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrY:4925489G>A	uc004fqo.3	+	0	1359	c.625G>A	c.(625-627)Gaa>Aaa	p.E209K	PCDH11Y_uc010nwg.1_Missense_Mutation_p.E198K|PCDH11Y_uc004fql.1_Missense_Mutation_p.E198K|PCDH11Y_uc004fqm.1_Missense_Mutation_p.E198K|PCDH11Y_uc004fqn.1_Missense_Mutation_p.E209K	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.	209	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TCAAAACTACGAACTAATTAA	0.308000														1			7		0	0	0.000673	0	0
TG	7038	broad.mit.edu	37	8	134108473	134108474	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:134108473_134108474CC>TT	uc003ytw.3	+	42	7469_7470	c.7428_7429CC>TT	c.(7426-7431)ttccac>ttTTac	p.H2477Y	TG_uc010mdw.3_Missense_Mutation_p.H1236Y|TG_uc011ljb.2_Missense_Mutation_p.H846Y|TG_uc011ljc.2_Missense_Mutation_p.H610Y|SLA_uc003ytz.3_Intron|SLA_uc011lje.2_Intron|SLA_uc011ljf.2_Intron|SLA_uc011ljg.2_Intron|SLA_uc010mea.2_Intron	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	2477					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GTGGCCCTTTCCACTACTGGGG	0.510000														75			32		0	0	0.004672	0	0
DSC3	1825	broad.mit.edu	37	18	28598186	28598186	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:28598186C>T	uc002kwj.4	-	8	1269	c.1114G>A	c.(1114-1116)Gaa>Aaa	p.E372K	DSC3_uc002kwi.4_Missense_Mutation_p.E372K	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	372	Cadherin 3.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			CGTAAGATTTCCACATTGAAT	0.274000														7			4		0	0	0.000248	0	0
IL1A	3552	broad.mit.edu	37	2	113532801	113532801	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:113532801T>C	uc002tig.3	-	6	1619	c.659A>G	c.(658-660)aAc>aGc	p.N220S		NM_000575	NP_000566	P01583	IL1A_HUMAN	Homo sapiens interleukin 1, alpha (IL1A), mRNA.	220					anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion	cytosol|extracellular space	copper ion binding|cytokine activity|interleukin-1 receptor binding			breast(2)|large_intestine(1)|lung(9)	12						GAAGAGGAGGTTGGTCTCACT	0.428000														29			39		0	0	0.003214	0	0
P2RY12	64805	broad.mit.edu	37	3	151056274	151056274	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:151056274G>A	uc003eyw.1	-	1	576	c.360C>T	c.(358-360)atC>atT	p.I120I	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron|P2RY12_uc011boa.2_Intron|P2RY12_uc003eyx.1_Silent_p.I120I|P2RY12_uc021xga.1_Silent_p.I120I	NM_176876	NP_795345	Q9H244	P2Y12_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 12 (P2RY12), transcript variant 2, mRNA.	120					platelet activation	integral to membrane|plasma membrane	guanyl-nucleotide exchange factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	17			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374)	GGTAGCGATCGATAGTTATCA	0.418000														10			14		0	0	0.003163	0	0
DNM1P46	196968	broad.mit.edu	37	15	100331792	100331792	+	RNA	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:100331792G>A	uc021sxl.1	-	1		c.1361C>T			DNM1P46_uc010urx.1_Non-coding_Transcript|DNM1P46_uc010ury.2_Non-coding_Transcript					Homo sapiens DNM1 pseudogene 46 (DNM1P46), non-coding RNA.																		GTGAGGAGGAGGCACCTCGGC	0.622000														54			10		0	0	0.006214	0	0
KLHL32	114792	broad.mit.edu	37	6	97562022	97562022	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:97562022C>T	uc010kcm.1	+	6	1463	c.991C>T	c.(991-993)Ccc>Tcc	p.P331S	KLHL32_uc003poy.3_Missense_Mutation_p.P331S|KLHL32_uc003poz.2_Intron|KLHL32_uc011ead.1_Missense_Mutation_p.P295S|KLHL32_uc011eae.1_Missense_Mutation_p.P262S|KLHL32_uc003ppa.2_Intron|MIR548H3_uc021zda.1_Intron	NM_052904	NP_443136	Q96NJ5	KLH32_HUMAN	Homo sapiens kelch-like 32 (Drosophila) (KLHL32), mRNA.	331				P -> S (in Ref. 1; BAB70899).						breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		TGAGCTGGCTCCCATGCCTGT	0.562000														32			23		0	0	0.004656	0	0
MUC20	200958	broad.mit.edu	37	3	195453125	195453125	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:195453125C>T	uc010hzo.3	+	2	1264	c.1138C>T	c.(1138-1140)Ccg>Tcg	p.P380S	MUC20_uc010hzp.3_Missense_Mutation_p.P345S|MUC20_uc011bte.1_Non-coding_Transcript	NM_152673	NP_689886	Q8N307	MUC20_HUMAN	Homo sapiens mucin 20, cell surface associated (MUC20), transcript variant L, mRNA.	551	12 X 20 AA approximate tandem repeats of S-S-E-S-S-A-S-S-D-S-P-H-P-V-I-T-P-S-R-A.|Ser-rich.				protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		AGGAGCAGCTCCGGTCTCCAT	0.552000														7			12		0	0	0.000978	0	0
KBTBD12	166348	broad.mit.edu	37	3	127646676	127646676	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:127646676G>A	uc010hsr.3	+	1	1143	c.1140G>A	c.(1138-1140)ctG>ctA	p.L380L	KBTBD12_uc003ejy.4_5'UTR|KBTBD12_uc010hsq.3_Intron|KBTBD12_uc003eka.4_Splice_Site_p.W22_splice|KBTBD12_uc003ejz.2_Silent_p.L380L	NM_207335	NP_997218	Q3ZCT8	KBTBC_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 12 (KBTBD12), mRNA.	380										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						TCTATGCTCTGGGCAGTATTC	0.373000														18			29		0	0	0.002096	0	0
ZNF614	80110	broad.mit.edu	37	19	52521633	52521633	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:52521633G>A	uc002pyj.3	-	2	532	c.130C>T	c.(130-132)Cta>Tta	p.L44L	ZNF614_uc002pyi.4_Silent_p.L44L|ZNF614_uc010epj.3_5'UTR	NM_025040	NP_079316	Q8N883	ZN614_HUMAN	Homo sapiens zinc finger protein 614 (ZNF614), mRNA.	44	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		AGTGATACTAGGTGGTTATAG	0.507000														55			50		0	0	0.003610	0	0
PIGR	5284	broad.mit.edu	37	1	207111048	207111048	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:207111048C>T	uc001hez.3	-	3	621	c.437G>A	c.(436-438)aGa>aAa	p.R146K	PIGR_uc009xbz.3_Missense_Mutation_p.R146K	NM_002644	NP_002635	P01833	PIGR_HUMAN	Homo sapiens polymeric immunoglobulin receptor (PIGR), mRNA.	146	Ig-like V-type 2.					extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGTCACCGTTCTGCCCAGGTC	0.517000														19			7		0	0	0.003080	0	0
MKL1	57591	broad.mit.edu	37	22	40820219	40820219	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:40820219G>A	uc003ayv.1	-	4	675	c.468C>T	c.(466-468)tcC>tcT	p.S156S	MKL1_uc010gyf.1_Silent_p.S156S|MKL1_uc003ayw.1_Silent_p.S156S|MKL1_uc010gye.1_Silent_p.S156S	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	Homo sapiens megakaryoblastic leukemia (translocation) 1 (MKL1), mRNA.	156	Mediates interaction with SCAI and ACTB (By similarity).				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						CCTGGGTGGGGGATGCAGAGG	0.642000			T	RBM15	acute megakaryocytic leukemia									100			93		0	0	0.003610	0	0
KCNV2	169522	broad.mit.edu	37	9	2717996	2717996	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:2717996C>T	uc003zho.2	+	0	471	c.257C>T	c.(256-258)cCc>cTc	p.P86L		NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN	Homo sapiens potassium channel, subfamily V, member 2 (KCNV2), mRNA.	86						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.P86H(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		ACCGCCAAGCCCGAGGGCCCC	0.657000														1			16		0	0	0.001523	0	0
ANKRD26	22852	broad.mit.edu	37	10	27366409	27366409	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:27366409G>A	uc009xku.1	-	8	1107	c.935C>T	c.(934-936)tCc>tTc	p.S312F	ANKRD26_uc001itg.2_Missense_Mutation_p.S31F|ANKRD26_uc001ith.2_Missense_Mutation_p.S312F	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	Homo sapiens ankyrin repeat domain 26 (ANKRD26), transcript variant 1, mRNA.	312						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TTGACTATCGGAATCTCTATC	0.363000														37			36		0	0	0.005524	0	0
CSMD3	114788	broad.mit.edu	37	8	113266484	113266484	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:113266484G>A	uc003ynu.3	-	62	10267	c.10108C>T	c.(10108-10110)Caa>Taa	p.Q3370*	CSMD3_uc003yns.3_Nonsense_Mutation_p.Q2572*|CSMD3_uc003ynt.3_Nonsense_Mutation_p.Q3330*|CSMD3_uc011lhx.2_Nonsense_Mutation_p.Q3201*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	3370	Sushi 27.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTACCCACTTGAAATCCGAAT	0.378000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				48			22		0	0	0.003954	0	0
CTRB1	1504	broad.mit.edu	37	16	75252937	75252937	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:75252937C>T	uc002fds.3	+	0	54	c.32C>T	c.(31-33)tCc>tTc	p.S11F		NM_001906	NP_001897			Homo sapiens chymotrypsinogen B1 (CTRB1), mRNA.											central_nervous_system(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.166)		TCCTGCTTCTCCCTTGTGGGG	0.677000														0			3		0	0	0.004672	0	0
RELB	5971	broad.mit.edu	37	19	45537713	45537713	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:45537713C>T	uc021uvq.1	+	10	1412	c.1281C>T	c.(1279-1281)ccC>ccT	p.P427P	RELB_uc021uvp.1_Silent_p.P424P	NM_006509	NP_006500	Q01201	RELB_HUMAN	Homo sapiens v-rel reticuloendotheliosis viral oncogene homolog B (RELB), mRNA.	427	RHD.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		CCTCAGACCCCCATGGCATCG	0.647000														99			65		0	0	0.003610	0	0
C1orf87	127795	broad.mit.edu	37	1	60506693	60506693	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:60506693C>T	uc001czs.2	-	3	561	c.453G>A	c.(451-453)caG>caA	p.Q151Q		NM_152377	NP_689590	Q8N0U7	CA087_HUMAN	Homo sapiens chromosome 1 open reading frame 87 (C1orf87), mRNA.	151			Q -> E (in a breast cancer sample; somatic mutation).				calcium ion binding	p.Q151E(1)		breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CTCTCACCATCTGTTCCAAGG	0.463000														58			17		0	0	0.007413	0	0
CHD4	1108	broad.mit.edu	37	12	6709742	6709743	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:6709742_6709743GG>AA	uc001qpo.3	-	7	1184_1185	c.1020_1021CC>TT	c.(1018-1023)agccgc>agTTgc	p.R341C	CHD4_uc001qpn.3_Missense_Mutation_p.R334C|CHD4_uc001qpp.3_Missense_Mutation_p.R338C	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	341					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TTGCGGCTGCGGCTACTACGGC	0.450000														47			17		0	0	0.004672	0	0
ESF1	51575	broad.mit.edu	37	20	13763243	13763243	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:13763243C>T	uc002woj.3	-	1	652	c.544G>A	c.(544-546)Gaa>Aaa	p.E182K	ESF1_uc002wok.1_Missense_Mutation_p.E182K|NDUFAF5_uc002woo.3_5'Flank|NDUFAF5_uc002wom.3_5'Flank|NDUFAF5_uc002won.3_5'Flank	NM_016649	NP_057733	Q9H501	ESF1_HUMAN	Homo sapiens ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae) (ESF1), mRNA.	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						TGTTTTTCTTCGAGAGAAGAG	0.348000														28			24		0	0	0.002299	0	0
TPR	7175	broad.mit.edu	37	1	186316442	186316442	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:186316442G>A	uc001grv.3	-	21	3222	c.2925C>T	c.(2923-2925)tcC>tcT	p.S975S	MIR548F1_uc021pgf.1_Intron	NM_003292	NP_003283	P12270	TPR_HUMAN	Homo sapiens translocated promoter region (to activated MET oncogene) (TPR), mRNA.	975					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic cell cycle spindle assembly checkpoint|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	p.S976S(1)|p.S975S(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CCTTGTTCAGGGATTCTTCTA	0.343000			T	NTRK1	papillary thyroid									67			15		0	0	0.003163	0	0
C15orf2	23742	broad.mit.edu	37	15	24922118	24922118	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:24922118C>T	uc001ywo.3	+	0	1578	c.1104C>T	c.(1102-1104)acC>acT	p.T368T		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	368	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		ACCTACACACCTTGGAGAAGA	0.542000														14			15		0	0	0.004007	0	0
PRIM2	5558	broad.mit.edu	37	6	57512514	57512514	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:57512514T>A	uc003pdx.3	+	14	1426	c.1339T>A	c.(1339-1341)Ttt>Att	p.F447I		NM_000947	NP_000938	P49643	PRI2_HUMAN	Homo sapiens primase, DNA, polypeptide 2 (58kDa) (PRIM2), mRNA.	448					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	p.Q446*(1)		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)		TAATCATTTCTTTTGTGAGAG	0.358000														39			8		0	0	0.006214	0	0
NLRP7	199713	broad.mit.edu	37	19	55451374	55451374	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:55451374C>T	uc002qih.4	-	3	889	c.813G>A	c.(811-813)ggG>ggA	p.G271G	NLRP7_uc010esk.3_Silent_p.G271G|NLRP7_uc002qig.4_Silent_p.G271G|NLRP7_uc002qii.4_Silent_p.G271G|NLRP7_uc010esl.3_Silent_p.G299G	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	271	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TCTCCCAGTCCCCGCAGATGT	0.602000														40			23		0	0	0.003330	0	0
ABCE1	6059	broad.mit.edu	37	4	146042539	146042539	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:146042539C>T	uc003ijx.3	+	12	1699	c.1259C>T	c.(1258-1260)tCa>tTa	p.S420L	ABCE1_uc003ijy.3_Missense_Mutation_p.S420L|ABCE1_uc010iot.3_Non-coding_Transcript	NM_001040876	NP_002931	P61221	ABCE1_HUMAN	Homo sapiens ATP-binding cassette, sub-family E (OABP), member 1 (ABCE1), transcript variant 2, mRNA.	420	ABC transporter 2.				RNA catabolic process|interspecies interaction between organisms|response to virus	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					AGTCCCAAATCAACTGTGAGT	0.279000														68			65		0	0	0.003610	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24909953	24909953	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:24909953G>A	uc001isb.2	-	8	1358	c.871C>T	c.(871-873)Cat>Tat	p.H291Y	ARHGAP21_uc010qdb.1_Non-coding_Transcript|ARHGAP21_uc009xkl.1_Missense_Mutation_p.H291Y|ARHGAP21_uc010qdc.1_Missense_Mutation_p.H126Y|ARHGAP21_uc001isc.1_Missense_Mutation_p.H281Y	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA.	290					signal transduction	Golgi membrane|cell junction|cytoplasmic vesicle membrane|cytoskeleton	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GGACCTGTATGGTTGTTTCTA	0.403000														31			33		0	0	0.002445	0	0
L3MBTL4	91133	broad.mit.edu	37	18	6093389	6093389	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:6093389G>A	uc002kmz.4	-	14	1498	c.1338C>T	c.(1336-1338)ttC>ttT	p.F446F	L3MBTL4_uc002kmy.4_Silent_p.F446F|L3MBTL4_uc010dkt.3_Silent_p.F446F	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	Homo sapiens l(3)mbt-like 4 (Drosophila) (L3MBTL4), mRNA.	446					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				GTTTTCCATTGAAGTTCAAAC	0.363000														21			29		0	0	0.006320	0	0
PROX2	283571	broad.mit.edu	37	14	75330268	75330268	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:75330268C>T	uc021rwo.1	-	0	270	c.270G>A	c.(268-270)ggG>ggA	p.G90G	PROX2_uc001xqp.2_Silent_p.G90G|PROX2_uc001xqq.2_Silent_p.G90G	NM_001080408	NP_001229936	Q3B8N5	PROX2_HUMAN	Homo sapiens prospero homeobox 2 (PROX2), transcript variant 2, mRNA.	90					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		GTGGGCTGACCCCAGCTTGCG	0.622000														8			8		0	0	0.006214	0	0
LEPRE1	64175	broad.mit.edu	37	1	43228090	43228090	+	Silent	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:43228090A>G	uc001chx.4	-	1	635	c.522T>C	c.(520-522)ccT>ccC	p.P174P	LEPRE1_uc001chw.2_Silent_p.P174P|LEPRE1_uc001chv.2_Silent_p.P174P|LEPRE1_uc001chy.4_Silent_p.P174P	NM_001243246	NP_001230175	Q32P28	P3H1_HUMAN	Homo sapiens leucine proline-enriched proteoglycan (leprecan) 1 (LEPRE1), transcript variant 3, mRNA.	174					negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CCATGTGCTCAGGATTGCCCA	0.468000														98			43		0	0	0.002222	0	0
DDX42	11325	broad.mit.edu	37	17	61895645	61895645	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:61895645C>T	uc002jbu.3	+	18	2961	c.2704C>T	c.(2704-2706)Ccc>Tcc	p.P902S	DDX42_uc002jbv.3_Missense_Mutation_p.P902S|DDX42_uc002jbx.3_Missense_Mutation_p.P638S|DDX42_uc002jby.3_Missense_Mutation_p.P448S|DDX42_uc010wps.2_Missense_Mutation_p.P270S	NM_007372	NP_987095	Q86XP3	DDX42_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 42 (DDX42), transcript variant 1, mRNA.	902					protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						CAAGATGGAACCCAAAGTGGA	0.532000														50			25		0	0	0.003330	0	0
PIK3R6	146850	broad.mit.edu	37	17	8738707	8738707	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:8738707G>A	uc002glq.1	-	7	768	c.528C>T	c.(526-528)atC>atT	p.I176I	PIK3R6_uc002glr.1_Non-coding_Transcript|PIK3R6_uc002gls.1_Non-coding_Transcript	NM_001010855	NP_001010855	Q5UE93	PI3R6_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 6 (PIK3R6), mRNA.	176					platelet activation	cytosol											GGGCCGCCTCGATCTCCAGTA	0.652000														12			15		0	0	0.003163	0	0
AHSA2	130872	broad.mit.edu	37	2	61412663	61412663	+	Silent	SNP	G	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:61412663G>T	uc002sbb.2	+	4	1360	c.102G>T	c.(100-102)ctG>ctT	p.L34L	AHSA2_uc002sbc.2_Silent_p.L34L	NM_152392	NP_689605	Q719I0	AHSA2_HUMAN	Homo sapiens AHA1, activator of heat shock 90kDa protein ATPase homolog 2 (yeast) (AHSA2), mRNA.	196					response to stress	cytoplasm	ATPase activator activity|chaperone binding			breast(1)|lung(3)|prostate(1)	5			Epithelial(17;0.0994)			CAGTGGCACTGGGTGTAAGGA	0.458000														57			55		2.44813e-32	3.43886e-32	0.003610	1	0
KRT24	192666	broad.mit.edu	37	17	38856510	38856510	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:38856510T>G	uc002hvd.3	-	3	1038	c.981A>C	c.(979-981)caA>caC	p.Q327H		NM_019016	NP_061889	Q2M2I5	K1C24_HUMAN	Homo sapiens keratin 24 (KRT24), mRNA.	327	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				CTCGGCGGTTTTGCTCAGCCA	0.562000														90			79		0	0	0.003610	0	0
DNAJA1	3301	broad.mit.edu	37	9	33038721	33038721	+	Silent	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:33038721A>G	uc003zsd.1	+	8	1197	c.1014A>G	c.(1012-1014)aaA>aaG	p.K338K	DNAJA1_uc011lnt.1_Silent_p.K181K	NM_001539	NP_001530	P31689	DNJA1_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily A, member 1 (DNAJA1), mRNA.	338					protein folding|response to heat|response to unfolded protein	membrane	ATP binding|heat shock protein binding|low-density lipoprotein particle receptor binding|metal ion binding|unfolded protein binding	p.K338K(2)		large_intestine(2)|ovary(1)|skin(3)	6			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		CTCCTGATAAACTGTCTTTGC	0.413000														13			16		0	0	0.006122	0	0
KIF3B	9371	broad.mit.edu	37	20	30904023	30904023	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:30904023C>T	uc002wxq.3	+	2	1587	c.1407C>T	c.(1405-1407)gcC>gcT	p.A469A	KIF3B_uc010ztw.2_Silent_p.A407A	NM_004798	NP_004789	O15066	KIF3B_HUMAN	Homo sapiens kinesin family member 3B (KIF3B), mRNA.	469					anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|Rho GTPase binding|plus-end-directed microtubule motor activity			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TCACTCAGGCCATGGAGAGTA	0.433000														44			41		0	0	0.003610	0	0
B9D2	80776	broad.mit.edu	37	19	41863811	41863811	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:41863811C>T	uc002oqj.2	-	2	425	c.205G>A	c.(205-207)Ggt>Agt	p.G69S	BCKDHA_uc002oqi.3_Intron	NM_030578	NP_085055	Q9BPU9	B9D2_HUMAN	Homo sapiens B9 protein domain 2 (B9D2), mRNA.	69	B9.				cilium assembly|mitotic prometaphase	centrosome|cilium axoneme|cytosol|microtubule basal body|nucleus	gamma-tubulin binding			large_intestine(1)|ovary(1)	2						CCTTGAAGACCTTTGGTGGCG	0.642000														27			16		0	0	0.006122	0	0
EIF2C2	27161	broad.mit.edu	37	8	141551433	141551433	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:141551433G>A	uc003yvn.3	-	14	1905	c.1864C>T	c.(1864-1866)Ccc>Tcc	p.P622S	EIF2C2_uc010meo.3_Missense_Mutation_p.P622S|EIF2C2_uc010men.3_Missense_Mutation_p.P545S	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 2 (EIF2C2), transcript variant 1, mRNA.	622	Piwi.				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|mRNA cap binding complex|micro-ribonucleoprotein complex|nucleus|polysome	RNA 7-methylguanosine cap binding|endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|siRNA binding|translation initiation factor activity			NS(1)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	33	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			TAGCGATTGGGGTGGGCGTCC	0.617000														10			10		0	0	0.000978	0	0
SFTPA1	653509	broad.mit.edu	37	10	81373760	81373760	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:81373760G>A	uc009xry.3	+	5	765	c.683G>A	c.(682-684)cGa>cAa	p.R228Q	SFTPA1_uc001kap.3_Missense_Mutation_p.R213Q|SFTPA1_uc001kar.3_Missense_Mutation_p.R213Q|SFTPA1_uc001kaq.3_Missense_Mutation_p.R213Q|SFTPA1_uc001kao.3_Missense_Mutation_p.R179Q|SFTPA1_uc021puu.1_Missense_Mutation_p.R164Q|SFTPA1_uc010qlt.2_Missense_Mutation_p.R154Q|SFTPA1_uc009xrz.3_Missense_Mutation_p.R143Q	NM_001093770	NP_005402	Q8IWL2	SFTA1_HUMAN	Homo sapiens surfactant protein A1 (SFTPA1), transcript variant 2, mRNA.	213	C-type lectin.				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding			endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			AACTGGTACCGAGGGGAGCCC	0.557000														104			88		0	0	0.003610	0	0
CD207	50489	broad.mit.edu	37	2	71060792	71060792	+	Silent	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:71060792A>G	uc002shg.3	-	2	597	c.550T>C	c.(550-552)Ttg>Ctg	p.L184L		NM_015717	NP_056532	Q9UJ71	CLC4K_HUMAN	Homo sapiens CD207 molecule, langerin (CD207), mRNA.	184					defense response to virus	endocytic vesicle|integral to membrane	mannose binding	p.K183R(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						CGTTTGAGCAACTTGCTCATA	0.468000														14			4		0	0	0.000602	0	0
LAS1L	81887	broad.mit.edu	37	X	64734821	64734821	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:64734821G>C	uc004dwa.2	-	12	2051	c.1960C>G	c.(1960-1962)Cga>Gga	p.R654G	LAS1L_uc004dwc.2_Missense_Mutation_p.R637G|LAS1L_uc004dwd.2_Missense_Mutation_p.R595G|LAS1L_uc004dvz.2_Missense_Mutation_p.R167G|LAS1L_uc004dvy.1_Missense_Mutation_p.R167G	NM_031206	NP_112483	Q9Y4W2	LAS1L_HUMAN	Homo sapiens LAS1-like (S. cerevisiae) (LAS1L), transcript variant 1, mRNA.	654						MLL1 complex|nucleolus	protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						CCTGGCATTCGGCCTAGGGGA	0.572000														1			18		0	0	0.001216	0	0
COL17A1	1308	broad.mit.edu	37	10	105800154	105800154	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:105800154C>T	uc001kxr.3	-	39	2885	c.2716G>A	c.(2716-2718)Ggc>Agc	p.G906S		NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	906	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	p.G906S(2)|p.S905F(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CCTGGGGGGCCGGAGAGGAAG	0.532000														55			58		0	0	0.003610	0	0
GREM2	64388	broad.mit.edu	37	1	240656514	240656514	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:240656514G>A	uc021plf.1	-	0	262	c.262C>T	c.(262-264)Cgg>Tgg	p.R88W	GREM2_uc001hys.3_Missense_Mutation_p.R88W	NM_022469	NP_071914	Q9H772	GREM2_HUMAN	Homo sapiens gremlin 2 (GREM2), mRNA.	88	CTCK.				BMP signaling pathway	extracellular space	cytokine activity			endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			GTGCGGCTCCGGCAGCCCTCC	0.647000														49			13		0	0	0.003163	0	0
ZC3H4	23211	broad.mit.edu	37	19	47570507	47570508	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:47570507_47570508GG>AA	uc002pga.4	-	14	3055_3056	c.3017_3018CC>TT	c.(3016-3018)ccc>cTT	p.P1006L	ZC3H4_uc002pgb.1_Non-coding_Transcript	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	Homo sapiens zinc finger CCCH-type containing 4 (ZC3H4), mRNA.	1006							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GGTCCAGGGTGGGCATGGATTG	0.738000														30			27		0	0	0.004672	0	0
CCDC11	220136	broad.mit.edu	37	18	47777871	47777871	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:47777871C>T	uc002lee.2	-	3	848	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K		NM_145020	NP_659457	Q96M91	CCD11_HUMAN	Homo sapiens coiled-coil domain containing 11 (CCDC11), mRNA.	253										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		GCCTCCTCTTCCTTCAGCAGC	0.537000														39			21		0	0	0.002780	0	0
BRAP	8315	broad.mit.edu	37	12	112093432	112093432	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:112093432C>T	uc001tsn.4	-	9	1443	c.1249G>A	c.(1249-1251)Gaa>Aaa	p.E417K	BRAP_uc010syh.2_Missense_Mutation_p.E238K|BRAP_uc009zvv.3_Missense_Mutation_p.E387K	NM_006768	NP_006759	Q7Z569	BRAP_HUMAN	Homo sapiens BRCA1 associated protein (BRAP), mRNA.	417					MAPKKK cascade|Ras protein signal transduction|negative regulation of signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						CGCTGAGATTCCAGCTGGCTT	0.393000														22			29		0	0	0.003755	0	0
PATL1	219988	broad.mit.edu	37	11	59406624	59406625	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:59406624_59406625GG>AA	uc001noe.4	-	17	2330_2331	c.2187_2188CC>TT	c.(2185-2190)ccccaa>ccTTaa	p.Q730*		NM_152716	NP_689929	Q86TB9	PATL1_HUMAN	Homo sapiens protein associated with topoisomerase II homolog 1 (yeast) (PATL1), mRNA.	730	Region C.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	RNA binding|protein binding			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						AGGGCTGCTTGGGGAATCCGCA	0.455000														10			19		0	0	0.004672	0	0
RNF123	63891	broad.mit.edu	37	3	49743008	49743009	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:49743008_49743009CC>TT	uc003cxh.3	+	23	2286_2287	c.2200_2201CC>TT	c.(2200-2202)ccc>TTc	p.P734F	RNF123_uc010hky.1_Missense_Mutation_p.P396F|RNF123_uc003cxi.3_Non-coding_Transcript	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	Homo sapiens ring finger protein 123 (RNF123), mRNA.	734						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GCTGGGGCGGCCCCCCGAGGAG	0.653000														22			5		0	0	0.004672	0	0
PVRL4	81607	broad.mit.edu	37	1	161044144	161044144	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:161044144C>T	uc001fxo.2	-	5	1319	c.1020G>A	c.(1018-1020)ggG>ggA	p.G340G	PVRL4_uc010pjy.1_Silent_p.G19G|PVRL4_uc010pjz.1_Silent_p.G74G	NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	Homo sapiens poliovirus receptor-related 4 (PVRL4), mRNA.	340					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)			CCACCTGCTTCCCAGAGTCTT	0.612000														35			5		0	0	0.000602	0	0
STRN	6801	broad.mit.edu	37	2	37105036	37105036	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:37105036C>T	uc002rpn.3	-	9	1330	c.1321G>A	c.(1321-1323)Gat>Aat	p.D441N	STRN_uc010ezx.3_Missense_Mutation_p.D404N	NM_003162	NP_003153	O43815	STRN_HUMAN	Homo sapiens striatin, calmodulin binding protein (STRN), mRNA.	441					Wnt receptor signaling pathway|dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding	p.D441N(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				CTACTTACATCATAAGTTAGT	0.448000														84			64		0	0	0.003610	0	0
SLC4A7	9497	broad.mit.edu	37	3	27450882	27450882	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:27450882C>T	uc011aww.2	-	12	2127	c.1906G>A	c.(1906-1908)Gga>Aga	p.G636R	SLC4A7_uc011awx.2_Missense_Mutation_p.G623R|SLC4A7_uc021wun.1_Missense_Mutation_p.G512R|SLC4A7_uc021wuo.1_Intron|SLC4A7_uc011awy.2_Missense_Mutation_p.G619R|SLC4A7_uc011awz.2_Intron|SLC4A7_uc011axa.2_Missense_Mutation_p.G508R|SLC4A7_uc011axb.2_Missense_Mutation_p.G623R|SLC4A7_uc021wul.1_Intron|SLC4A7_uc011awu.2_Intron|SLC4A7_uc011awv.2_Intron|SLC4A7_uc021wum.1_Intron|SLC4A7_uc003cdu.4_Missense_Mutation_p.G508R|SLC4A7_uc010hfl.3_Missense_Mutation_p.G177R|SLC4A7_uc003cdv.3_Missense_Mutation_p.G627R|SLC4A7_uc003cdw.3_Missense_Mutation_p.G503R	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 7 (SLC4A7), mRNA.	627						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						AGCAGCCCTCCAAAAGTGATT	0.453000														109			56		0	0	0.003610	0	0
LAMA2	3908	broad.mit.edu	37	6	129813188	129813188	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:129813188G>A	uc021zfb.1	+	56	8146	c.8041G>A	c.(8041-8043)Gaa>Aaa	p.E2681K	LAMA2_uc003qbn.3_Missense_Mutation_p.E2679K|LAMA2_uc003qbo.3_Missense_Mutation_p.E2675K|BC035400_uc003qbq.3_Intron	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	2681	Laminin G-like 3.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TCCTCCTTTTGAAGGCTGCAT	0.383000														26			18		0	0	0.001523	0	0
C3	718	broad.mit.edu	37	19	6696607	6696607	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:6696607G>A	uc002mfm.3	-	21	2922	c.2860C>T	c.(2860-2862)Cgt>Tgt	p.R954C		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	954		Cleavage; by factor I (Potential).			G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GACTCACCACGGCCCAGGCGT	0.602000														105			66		0	0	0.003610	0	0
SHOX2	6474	broad.mit.edu	37	3	157816016	157816016	+	Missense_Mutation	SNP	G	A	A	rs142921456	by1000genomes	TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:157816016G>A	uc003fbs.3	-	5	1007	c.868C>T	c.(868-870)Ccg>Tcg	p.P290S	SHOX2_uc003fbr.3_Missense_Mutation_p.P266S|SHOX2_uc010hvw.3_Missense_Mutation_p.P254S	NM_003030	NP_003021	O60902	SHOX2_HUMAN	Homo sapiens short stature homeobox 2 (SHOX2), transcript variant 1, mRNA.	266					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			GCCAGGTGCGGATGCAGGTGG	0.672000														18			40		0	0	0.005524	0	0
SPG11	80208	broad.mit.edu	37	15	44903077	44903077	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:44903077G>A	uc001ztx.3	-	17	3283	c.3252C>T	c.(3250-3252)gcC>gcT	p.A1084A	SPG11_uc010ueh.2_Silent_p.A1084A|SPG11_uc010uei.2_Silent_p.A1084A	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	Homo sapiens spastic paraplegia 11 (autosomal recessive) (SPG11), transcript variant 1, mRNA.	1084					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TAGTAGCAAGGGCCAGGAGGG	0.423000														2			44		0	0	0.003214	0	0
CBS	875	broad.mit.edu	37	21	44485800	44485800	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr21:44485800C>T	uc002zcu.2	-	5	702	c.457G>A	c.(457-459)Ggg>Agg	p.G153R	CBS_uc002zcs.1_Missense_Mutation_p.G48R|CBS_uc002zct.2_Missense_Mutation_p.G153R|CBS_uc002zcw.3_Missense_Mutation_p.G153R|CBS_uc002zcv.2_Missense_Mutation_p.G153R	NM_000071	NP_001171480	P35520	CBS_HUMAN	Homo sapiens cystathionine-beta-synthase (CBS), transcript variant 1, mRNA.	153			Missing (in CBSD).		L-cysteine catabolic process|L-serine catabolic process|cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	AGGGCCAGCCCGATCCCTGAG	0.701000														16			14		0	0	0.001855	0	0
C7orf62	219557	broad.mit.edu	37	7	88424098	88424098	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:88424098C>T	uc003ujv.3	-	1	341	c.159G>A	c.(157-159)gtG>gtA	p.V53V	ZNF804B_uc011khi.2_Intron|C7orf62_uc022ahc.1_Silent_p.V53V	NM_152706	NP_689919	Q8TBZ9	CG062_HUMAN	Homo sapiens chromosome 7 open reading frame 62 (C7orf62), mRNA.	53										NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						GTATCTTGGCCACTAGAAACA	0.383000														12			6		0	0	0.003080	0	0
OSM	5008	broad.mit.edu	37	22	30660431	30660431	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:30660431A>G	uc003ahb.3	-	2	241	c.200T>C	c.(199-201)gTt>gCt	p.V67A		NM_020530	NP_065391	P13725	ONCM_HUMAN	Homo sapiens oncostatin M (OSM), mRNA.	67					cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of MAPKKK cascade|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth	extracellular space|oncostatin-M receptor complex	cytokine activity|growth factor activity|oncostatin-M receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|skin(3)	11			Epithelial(10;0.206)			CAGTTTAGGAACATCCAGGCC	0.597000														14			15		0	0	0.004007	0	0
PLSCR1	5359	broad.mit.edu	37	3	146233883	146233883	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:146233883G>A	uc003evx.4	-	8	1294	c.906C>T	c.(904-906)ttC>ttT	p.F302F	PLSCR1_uc011bnn.2_Silent_p.F221F|PLSCR1_uc003evz.4_Non-coding_Transcript	NM_021105	NP_066928	O15162	PLS1_HUMAN	Homo sapiens phospholipid scramblase 1 (PLSCR1), mRNA.	302					phospholipid scrambling|platelet activation|response to virus	integral to membrane|plasma membrane	SH3 domain binding|calcium ion binding|phospholipid scramblase activity	p.D301H(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						CAAAAAACATGAAGTCCTAGA	0.353000														14			19		0	0	0.001523	0	0
C1orf177	163747	broad.mit.edu	37	1	55277780	55277780	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:55277780G>A	uc001cyb.4	+	5	734	c.680G>A	c.(679-681)cGa>cAa	p.R227Q	C1orf177_uc001cya.4_Missense_Mutation_p.R227Q	NM_001110533	NP_001104003	Q3ZCV2	CA177_HUMAN	Homo sapiens chromosome 1 open reading frame 177 (C1orf177), transcript variant 2, mRNA.	227										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						TATGTGGCACGATCCGTCGGC	0.587000														28			73		0	0	0.003610	0	0
IL12RB1	3594	broad.mit.edu	37	19	18173075	18173075	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:18173075G>A	uc002nhx.1	-	14	1802	c.1751C>T	c.(1750-1752)tCt>tTt	p.S584F	IL12RB1_uc002nhw.1_Missense_Mutation_p.S544F|IL12RB1_uc010xqb.1_Missense_Mutation_p.S544F	NM_005535	NP_005526	P42701	I12R1_HUMAN	Homo sapiens interleukin 12 receptor, beta 1 (IL12RB1), transcript variant 1, mRNA.	544					cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						GAGCCAATCAGAAACCTGCAC	0.577000														26			16		0	0	0.004990	0	0
DAB2IP	153090	broad.mit.edu	37	9	124535103	124535103	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:124535103G>A	uc004bln.3	+	11	2281	c.2212G>A	c.(2212-2214)Ggc>Agc	p.G738S	DAB2IP_uc004blo.3_Missense_Mutation_p.G642S|DAB2IP_uc004blp.3_Missense_Mutation_p.G171S	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	Homo sapiens DAB2 interacting protein (DAB2IP), transcript variant 1, mRNA.	766					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|Ras GTPase activator activity|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CTCCCCGGCGGGCCCCGACGT	0.711000														2			7		0	0	0.003080	0	0
POTEA	340441	broad.mit.edu	37	8	43147879	43147879	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:43147879C>T	uc003xpz.1	+	0	295	c.252C>T	c.(250-252)atC>atT	p.I84I	POTEA_uc003xqa.1_Silent_p.I84I	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN	Homo sapiens POTE ankyrin domain family, member A (POTEA), transcript variant 2, mRNA.	84										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CGGATCTCATCGTCATGCTCA	0.612000														2			12		0	0	0.001368	0	0
SMOC1	64093	broad.mit.edu	37	14	70442531	70442531	+	Splice_Site	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:70442531G>A	uc001xlt.2	+	4	760	c.478_splice	c.e4+1	p.G160_splice	SMOC1_uc001xls.2_Splice_Site_p.G160_splice	NM_001034852	NP_001030024	Q9H4F8	SMOC1_HUMAN	Homo sapiens SPARC related modular calcium binding 1 (SMOC1), transcript variant 1, mRNA.	160					cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		TGTATGTTCAGGTACCGTAGG	0.532000														22			19		0	0	0.001523	0	0
OR10J5	127385	broad.mit.edu	37	1	159505099	159505099	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:159505099C>T	uc010piw.2	-	0	699	c.699G>A	c.(697-699)cgG>cgA	p.R233R		NM_001004469	NP_001004469	Q8NHC4	O10J5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 5 (OR10J5), mRNA.	233			R -> W (in dbSNP:rs35393723).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					AGGTCTTCTTCCGGCCCTCAG	0.478000														14			16		0	0	0.004007	0	0
TTC3	7267	broad.mit.edu	37	21	38539913	38539913	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr21:38539913G>A	uc002yvz.3	+	33	4563	c.4458G>A	c.(4456-4458)gaG>gaA	p.E1486E	TTC3_uc002ywa.3_Silent_p.E1486E|TTC3_uc002ywb.3_Silent_p.E1486E|TTC3_uc010gnf.3_Silent_p.E1251E|TTC3_uc002ywc.3_Silent_p.E1176E|TTC3_uc002ywd.1_Silent_p.E550E	NM_001001894	NP_003307	P53804	TTC3_HUMAN	Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 2, mRNA.	1486					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				ATCCTTTTGAGGAACGACAAG	0.318000														20			21		0	0	0.003954	0	0
CCDC28A	25901	broad.mit.edu	37	6	139094867	139094867	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:139094867C>T	uc003qie.3	+	0	211	c.56C>T	c.(55-57)cCg>cTg	p.P19L	LOC100507462_uc003qid.2_5'Flank	NM_015439	NP_056254	Q8IWP9	CC28A_HUMAN	Homo sapiens coiled-coil domain containing 28A (CCDC28A), mRNA.	19										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		GCGGGGCTTCCGCTTGGGGCA	0.622000														83			54		0	0	0.003610	0	0
B3GNT7	93010	broad.mit.edu	37	2	232263496	232263496	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:232263496C>T	uc002vrs.3	+	1	1246	c.1066C>T	c.(1066-1068)Cgc>Tgc	p.R356C		NM_145236	NP_660279	Q8NFL0	B3GN7_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 (B3GNT7), mRNA.	356					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		CTCCCGGAACCGCAACAGCCG	0.642000														27			9		0	0	0.000673	0	0
GABRA1	2554	broad.mit.edu	37	5	161300198	161300198	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:161300198C>T	uc010jiw.3	+	5	799	c.331C>T	c.(331-333)Ctc>Ttc	p.L111F	GABRA1_uc010jix.3_Missense_Mutation_p.L111F|GABRA1_uc010jiy.3_Missense_Mutation_p.L111F|GABRA1_uc003lyx.4_Missense_Mutation_p.L111F|GABRA1_uc010jiz.3_Missense_Mutation_p.L111F|GABRA1_uc010jja.3_Missense_Mutation_p.L111F|GABRA1_uc010jjb.3_Missense_Mutation_p.L111F	NM_000806	NP_001121120	P14867	GBRA1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA.	111					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	TATGACAGTCCTCCGGTTAAA	0.388000														27			24		0	0	0.002299	0	0
ARSJ	79642	broad.mit.edu	37	4	114824393	114824393	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:114824393G>A	uc003ibq.1	-	1	1725	c.837C>T	c.(835-837)ttC>ttT	p.F279F	ARSJ_uc010imu.1_Silent_p.F279F|ARSJ_uc010imv.1_Silent_p.F107F	NM_024590	NP_078866	Q5FYB0	ARSJ_HUMAN	Homo sapiens arylsulfatase family, member J (ARSJ), mRNA.	279						extracellular region	arylsulfatase activity|metal ion binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		GGTAGTGTTCGAAATACCTGC	0.413000														59			30		0	0	0.001512	0	0
FAT4	79633	broad.mit.edu	37	4	126412032	126412032	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:126412032C>T	uc003ifj.4	+	16	14055	c.14055C>T	c.(14053-14055)agC>agT	p.S4685S	FAT4_uc011cgp.2_Silent_p.S2926S|FAT4_uc003ifi.1_Silent_p.S2162S	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4685					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGAGAACCAGCTCCCTAAGCC	0.522000														113			55		0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9063836	9063836	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:9063836G>A	uc002mkp.3	-	2	23814	c.23610C>T	c.(23608-23610)tcC>tcT	p.S7870S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7872	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						GACCTGGGATGGAGGTGACGT	0.522000														22			32		0	0	0.002096	0	0
IL17RC	84818	broad.mit.edu	37	3	9974701	9974701	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:9974701G>A	uc003bua.3	+	18	2018	c.1800G>A	c.(1798-1800)ctG>ctA	p.L600L	CIDEC_uc003bto.3_Intron|IL17RC_uc003btz.3_Silent_p.L529L|IL17RC_uc011atp.2_Silent_p.L355L|IL17RC_uc003bud.3_Silent_p.L70L|IL17RC_uc010hct.3_Silent_p.L516L|IL17RC_uc010hcu.3_Silent_p.L499L|IL17RC_uc003bub.3_Silent_p.L514L|IL17RC_uc010hcv.3_Silent_p.L497L|IL17RC_uc003buc.3_Silent_p.L57L|IL17RC_uc011atq.2_3'UTR|IL17RC_uc003bue.3_Silent_p.L152L|CRELD1_uc003buh.3_5'Flank|CRELD1_uc003buf.3_5'Flank|CRELD1_uc003bug.3_5'Flank	NM_153461	NP_703191	Q8NAC3	I17RC_HUMAN	Homo sapiens interleukin 17 receptor C (IL17RC), transcript variant 2, mRNA.	600	SEFIR.					integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TCGAGCGCCTGGTGGGCGCCC	0.706000											OREG0015383	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		11			7		0	0	0.001984	0	0
ART5	116969	broad.mit.edu	37	11	3660940	3660940	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:3660940G>A	uc001lyb.1	-	1	1112	c.719C>T	c.(718-720)gCc>gTc	p.A240V	ART5_uc001lyc.1_Missense_Mutation_p.A240V|ART5_uc001lyd.3_Intron|ART5_uc009yea.3_Intron	NM_053017	NP_443750	Q96L15	NAR5_HUMAN	Homo sapiens ADP-ribosyltransferase 5 (ART5), transcript variant 1, mRNA.	240						extracellular region	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAAGCTCTGGGCTCCATCCTG	0.542000														74			21		0	0	0.001523	0	0
GP5	2814	broad.mit.edu	37	3	194118752	194118752	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:194118752G>A	uc003ftv.1	-	1	291	c.260C>T	c.(259-261)tCc>tTc	p.S87F	GP5_uc021xiz.1_Missense_Mutation_p.S87F	NM_004488	NP_004479	P40197	GPV_HUMAN	Homo sapiens glycoprotein V (platelet) (GP5), mRNA.	87					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		GGCAACGGCGGAAATGTGGCT	0.592000														57			27		0	0	0.001512	0	0
SERINC5	256987	broad.mit.edu	37	5	79441949	79441949	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:79441949G>A	uc011ctj.2	-	10	1359	c.1202C>T	c.(1201-1203)tCc>tTc	p.S401F	SERINC5_uc003kgj.3_Missense_Mutation_p.S401F|SERINC5_uc003kgm.3_Missense_Mutation_p.S401F|SERINC5_uc003kgk.3_Missense_Mutation_p.S399F|SERINC5_uc003kgl.3_Non-coding_Transcript	NM_001174072	NP_001167543	Q86VE9	SERC5_HUMAN	Homo sapiens serine incorporator 5 (SERINC5), transcript variant 1, mRNA.	401					phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|kidney(1)|lung(3)|ovary(1)	8		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		CACATACAGGGAAGCTAGGAA	0.473000														48			46		0	0	0.002522	0	0
FUBP3	8939	broad.mit.edu	37	9	133498141	133498142	+	Missense_Mutation	DNP	GG	TA	TA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:133498141_133498142GG>TA	uc004bzr.1	+	9	926_927	c.818_819GG>TA	c.(817-819)ggg>gTA	p.G273V	FUBP3_uc010mzd.1_Missense_Mutation_p.G213V	NM_003934	NP_003925	Q96I24	FUBP3_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 3 (FUBP3), mRNA.	273	KH 3.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		GGAAGAAACGGGGAAATGATCA	0.371000														52			15		0	0	0.004672	0	0
KCNT2	343450	broad.mit.edu	37	1	196398830	196398830	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:196398830G>A	uc001gtd.1	-	8	756	c.696C>T	c.(694-696)tcC>tcT	p.S232S	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Silent_p.S232S|KCNT2_uc001gtf.1_Silent_p.S232S|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.3_Silent_p.S232S|KCNT2_uc009wyv.1_Silent_p.S207S	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	232						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.D231Y(1)|p.S232F(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						AGAAATAAAGGGAGTCAAAGA	0.393000														1			4		0	0	0.000248	0	0
SMARCA4	6597	broad.mit.edu	37	19	11094893	11094893	+	Silent	SNP	T	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:11094893T>A	uc010dxp.3	+	2	426	c.66T>A	c.(64-66)ccT>ccA	p.P22P	SMARCA4_uc010dxo.3_Silent_p.P22P|SMARCA4_uc002mqf.4_Silent_p.P22P|SMARCA4_uc002mqg.1_Silent_p.P22P|SMARCA4_uc010dxq.3_Silent_p.P22P|SMARCA4_uc010dxr.3_Silent_p.P22P|SMARCA4_uc002mqj.4_Silent_p.P22P|SMARCA4_uc010dxs.3_Silent_p.P22P|SMARCA4_uc002mqe.2_Silent_p.P22P	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	22	Necessary for interaction with SS18L1/CREST (By similarity).				chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin	ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GCCCTGGCCCTTCCCCTGGAG	0.721000			"""F, N, Mis"""		NSCLC									19			24		0	0	0.001786	0	0
LAMA2	3908	broad.mit.edu	37	6	129637191	129637191	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:129637191G>A	uc021zfb.1	+	26	4038	c.3933G>A	c.(3931-3933)tgG>tgA	p.W1311*	LAMA2_uc003qbn.3_Nonsense_Mutation_p.W1311*|LAMA2_uc003qbo.3_Nonsense_Mutation_p.W1311*	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	1311	Laminin IV type A 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.E1310K(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AGAAAGAATGGAAATATTATG	0.348000														20			14		0	0	0.001855	0	0
TRIO	7204	broad.mit.edu	37	5	14369569	14369569	+	Silent	SNP	T	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:14369569T>A	uc003jff.3	+	17	3159	c.3153T>A	c.(3151-3153)tcT>tcA	p.S1051S	TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc011cna.1_Silent_p.S1002S|TRIO_uc003jfh.1_Silent_p.S700S	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	1051					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GCCCAAACTCTGAGACGGACC	0.597000														45			28		0	0	0.001512	0	0
TLL1	7092	broad.mit.edu	37	4	166964467	166964467	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:166964467C>T	uc003irh.2	+	11	2067	c.1420C>T	c.(1420-1422)Cag>Tag	p.Q474*	TLL1_uc011cjn.2_Nonsense_Mutation_p.Q474*|TLL1_uc011cjo.2_Nonsense_Mutation_p.Q298*	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	474	CUB 2.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AGGACAGATTCAGTCTCCCAA	0.413000														74			68		0	0	0.003610	0	0
SCNN1D	6339	broad.mit.edu	37	1	1225748	1225748	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:1225748C>G	uc001adt.1	+	12	1986	c.1760C>G	c.(1759-1761)tCt>tGt	p.S587C	SCNN1D_uc001adu.1_Missense_Mutation_p.S423C|SCNN1D_uc001adw.2_Missense_Mutation_p.S489C|SCNN1D_uc001adv.2_Missense_Mutation_p.S423C|SCNN1D_uc001adx.2_Missense_Mutation_p.S212C	NM_001130413	NP_001123885			Homo sapiens sodium channel, nonvoltage-gated 1, delta (SCNN1D), transcript variant 1, mRNA.											lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		TACTGCAGCTCTGCCCGGCAC	0.667000														35			15		0	0	0.006122	0	0
GLIS3	169792	broad.mit.edu	37	9	3898796	3898796	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:3898796C>T	uc003zhx.1	-	6	2736	c.2023G>A	c.(2023-2025)Gat>Aat	p.D675N	GLIS3_uc010mhf.1_Missense_Mutation_p.D69N|GLIS3_uc003zhv.1_Non-coding_Transcript|GLIS3_uc003zhw.1_Missense_Mutation_p.D520N|GLIS3_uc003zhy.1_Missense_Mutation_p.D453N|GLIS3_uc003zhz.1_Missense_Mutation_p.D453N|GLIS3-AS1_uc003zia.3_Non-coding_Transcript	NM_001042413	NP_001035878	Q8NEA6	GLIS3_HUMAN	Homo sapiens GLIS family zinc finger 3 (GLIS3), transcript variant 1, mRNA.	520					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)		GTGAGGCAATCTGTGAGCAGG	0.587000														8			20		0	0	0.007413	0	0
OR7D2	162998	broad.mit.edu	37	19	9296579	9296579	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:9296579G>A	uc002mkz.1	+	0	310	c.122G>A	c.(121-123)gGa>gAa	p.G41E		NM_175883	NP_787079	Q96RA2	OR7D2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 2 (OR7D2), mRNA.	41					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						ACGGTGCTGGGAAACCTGCTC	0.517000														16			15		0	0	0.007413	0	0
C1orf105	92346	broad.mit.edu	37	1	172425578	172425578	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:172425578C>T	uc001gik.3	+	3	420	c.222C>T	c.(220-222)tcC>tcT	p.S74S		NM_139240	NP_640333	O95561	CA105_HUMAN	Homo sapiens chromosome 1 open reading frame 105 (C1orf105), mRNA.	74										large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						AGTGTGACTCCATGCTGCTCA	0.532000														36			66		0	0	0.003610	0	0
CDH8	1006	broad.mit.edu	37	16	61689619	61689619	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:61689619G>A	uc002eog.2	-	10	2616	c.1661C>T	c.(1660-1662)tCc>tTc	p.S554F		NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	554	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S554S(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		AATACTGAGGGAATTATCTGA	0.343000														7			4		0	0	0.000248	0	0
COL4A1	1282	broad.mit.edu	37	13	110866304	110866304	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:110866304G>A	uc001vqw.4	-	2	325	c.203C>T	c.(202-204)cCt>cTt	p.P68L		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	68					angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TGGCCCCTCAGGTCCTTGCAT	0.542000														112			26		0	0	0.001512	0	0
SNAP91	9892	broad.mit.edu	37	6	84292075	84292075	+	Splice_Site	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:84292075C>T	uc021zcf.1	-	22	2045	c.2015_splice	c.e22-1	p.G672_splice	SNAP91_uc011dzd.2_Splice_Site_p.G175_splice|SNAP91_uc003pka.3_Splice_Site_p.G670_splice|SNAP91_uc011dze.2_Splice_Site_p.G670_splice|SNAP91_uc003pkc.3_Splice_Site_p.G642_splice|SNAP91_uc003pkd.3_Splice_Site_p.G365_splice|SNAP91_uc003pkb.3_Splice_Site_p.G581_splice	NM_014841	NP_055656	O60641	AP180_HUMAN	Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.	672					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		ACCCCCAAATCCTGAAAAAAA	0.398000														13			10		0	0	0.006214	0	0
VWA2	340706	broad.mit.edu	37	10	116048977	116048977	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:116048977C>T	uc001lbl.1	+	11	2172	c.1851C>T	c.(1849-1851)atC>atT	p.I617I	VWA2_uc001lbk.1_Silent_p.I617I|VWA2_uc009xyf.1_Silent_p.I313I	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN	Homo sapiens von Willebrand factor A domain containing 2 (VWA2), mRNA.	617	VWFA 3.					extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		TGCTGCACATCTATGACAAAG	0.667000														15			9		0	0	0.004482	0	0
OR6K6	128371	broad.mit.edu	37	1	158725174	158725174	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:158725174G>A	uc001fsw.1	+	0	569	c.569G>A	c.(568-570)tGg>tAg	p.W190*		NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 6 (OR6K6), mRNA.	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					GAGATTGCATGGATTTCCACC	0.488000														57			13		0	0	0.001855	0	0
GRM8	2918	broad.mit.edu	37	7	126542627	126542627	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:126542627C>T	uc003vlr.2	-	4	1436	c.1125G>A	c.(1123-1125)ggG>ggA	p.G375G	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Silent_p.G375G|GRM8_uc010lkz.1_Non-coding_Transcript|GRM8_uc003vlu.1_Silent_p.G96G	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	375					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TGTTCCTTTTCCCATGTGATC	0.358000										HNSCC(24;0.065)				16			8		0	0	0.004482	0	0
CCDC54	84692	broad.mit.edu	37	3	107097197	107097197	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:107097197C>T	uc003dwi.1	+	0	1010	c.763C>T	c.(763-765)Cat>Tat	p.H255Y		NM_032600	NP_115989	Q8NEL0	CCD54_HUMAN	Homo sapiens coiled-coil domain containing 54 (CCDC54), mRNA.	255										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						AACTTTTGTTCATGGAGGAAA	0.403000														30			33		0	0	0.003755	0	0
OR2W3	343171	broad.mit.edu	37	1	248059766	248059766	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:248059766G>A	uc010pzb.2	+	0	878	c.878G>A	c.(877-879)aGa>aAa	p.R293K	OR2W3_uc001idp.1_Missense_Mutation_p.R293K	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 3 (OR2W3), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	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;0.0319)			TACACCCTCAGAAACAGAGAG	0.537000														15			16		0	0	0.007413	0	0
DMBX1	127343	broad.mit.edu	37	1	46978056	46978056	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:46978056C>T	uc001cpx.3	+	3	1054	c.1039C>T	c.(1039-1041)Ctg>Ttg	p.L347L	DMBX1_uc001cpw.3_Silent_p.L342L	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN	Homo sapiens diencephalon/mesencephalon homeobox 1 (DMBX1), transcript variant 2, mRNA.	347					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					CCCAGCAGGCCTGGCTCCTGC	0.642000														12			34		0	0	0.002836	0	0
MAP4K1	11184	broad.mit.edu	37	19	39100579	39100580	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:39100579_39100580GG>AA	uc002oix.1	-	11	1004_1005	c.896_897CC>TT	c.(895-897)tcc>tTT	p.S299F	MAP4K1_uc002oiy.1_Missense_Mutation_p.S299F|MAP4K1_uc010xug.2_5'UTR	NM_007181	NP_009112	Q92918	M4K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 1 (MAP4K1), transcript variant 2, mRNA.	299					activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity	p.P298P(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TGTCCCCAATGGAGGGTCCTTT	0.579000														43			27		0	0	0.004672	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35144373	35144373	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:35144373C>T	uc003teq.1	-	17	1842	c.735G>A	c.(733-735)ctG>ctA	p.L245L	DPY19L2P1_uc003tep.1_Non-coding_Transcript|DPY19L2P1_uc010kwz.1_Non-coding_Transcript					Homo sapiens dpy-19-like 2 pseudogene 1 (C. elegans) (DPY19L2P1), non-coding RNA.																		TGTGAAAAGCCAGCTATAAAA	0.308000														0			4		0	0	0.000248	0	0
SPATA20	64847	broad.mit.edu	37	17	48625655	48625655	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:48625655C>T	uc002ird.3	+	2	278	c.137C>T	c.(136-138)tCc>tTc	p.S46F	SPATA20_uc002irc.3_5'UTR|SPATA20_uc002ire.3_5'UTR|SPATA20_uc002irf.3_Missense_Mutation_p.S30F|SPATA20_uc010wmv.1_Missense_Mutation_p.S30F|SPATA20_uc002irg.3_Non-coding_Transcript	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	Homo sapiens spermatogenesis associated 20 (SPATA20), mRNA.	30					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			GGTAGCTCCTCCCGGGACAAG	0.632000														15			6		0	0	0.000673	0	0
IMMT	10989	broad.mit.edu	37	2	86389137	86389137	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:86389137C>T	uc002sqz.4	-	7	1246	c.858G>A	c.(856-858)aaG>aaA	p.K286K	IMMT_uc002sqy.4_Silent_p.K27K|IMMT_uc010yte.2_Silent_p.K239K|IMMT_uc002srb.4_Silent_p.K275K|IMMT_uc002sra.4_Silent_p.K285K|IMMT_uc010ytd.2_Silent_p.K274K|IMMT_uc002src.1_Silent_p.K27K|IMMT_uc002sre.3_Silent_p.K274K|IMMT_uc010fgs.1_Silent_p.K283K|IMMT_uc010ytf.1_Silent_p.K208K	NM_006839	NP_006830	Q16891	IMMT_HUMAN	Homo sapiens inner membrane protein, mitochondrial (IMMT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	286						integral to mitochondrial inner membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CATCTACTGCCTTTCTGCGTT	0.433000														11			7		0	0	0.001368	0	0
CD163L1	283316	broad.mit.edu	37	12	7548820	7548820	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:7548820C>T	uc010sge.2	-	7	1977	c.1951G>A	c.(1951-1953)Gga>Aga	p.G651R	CD163L1_uc001qsy.3_Missense_Mutation_p.G641R	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	641	SRCR 6.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	p.S651F(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TTTCCATATCCTGTAGAAGCG	0.493000														20			26		0	0	0.006320	0	0
RGS22	26166	broad.mit.edu	37	8	101083691	101083692	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:101083691_101083692GG>AA	uc003yjb.1	-	5	694_695	c.499_500CC>TT	c.(499-501)ccc>TTc	p.P167F	RGS22_uc003yja.1_Intron|RGS22_uc003yjc.1_Missense_Mutation_p.P167F|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc010mbo.1_Non-coding_Transcript|RGS22_uc022azh.1_Missense_Mutation_p.P71F	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	167					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CACGATCCAGGGAGAAAAATTT	0.376000														15			21		0	0	0.004672	0	0
DNAH7	56171	broad.mit.edu	37	2	196866403	196866403	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:196866403G>A	uc002utj.4	-	10	1270	c.1169C>T	c.(1168-1170)cCc>cTc	p.P390L		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	390	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ACTTACTGGGGGTTGTGCAAT	0.368000														28			11		0	0	0.001855	0	0
FOXO1	2308	broad.mit.edu	37	13	41134638	41134638	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:41134638G>A	uc001uxl.4	-	1	1375	c.990C>T	c.(988-990)ccC>ccT	p.P330P	FOXO1_uc010acc.1_Silent_p.P145P	NM_002015	NP_002006	Q12778	FOXO1_HUMAN	Homo sapiens forkhead box O1 (FOXO1), mRNA.	330					anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding		PAX7/FOXO1(197)|PAX3/FOXO1(749)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		CGGTCATAATGGGTGAGAGTC	0.488000														63			42		0	0	0.003610	0	0
FAM55D	54827	broad.mit.edu	37	11	114453041	114453041	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:114453041G>A	uc001ppc.3	-	2	980	c.799C>T	c.(799-801)Ctt>Ttt	p.L267F	FAM55D_uc001ppd.3_Intron	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN	Homo sapiens family with sequence similarity 55, member D (FAM55D), transcript variant 1, mRNA.	267						extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)		TGTTTGCTAAGATAAGAAACT	0.393000														26			20		0	0	0.007413	0	0
MAP1B	4131	broad.mit.edu	37	5	71494521	71494521	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:71494521C>T	uc003kbw.4	+	4	5580	c.5339C>T	c.(5338-5340)cCa>cTa	p.P1780L	MAP1B_uc010iyw.1_Missense_Mutation_p.P1797L|MAP1B_uc010iyx.1_Missense_Mutation_p.P1654L|MAP1B_uc010iyy.1_Missense_Mutation_p.P1654L	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	1780						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAGCTCTCTCCAAAATCTGAT	0.438000														25			17		0	0	0.004990	0	0
KIAA1109	84162	broad.mit.edu	37	4	123202788	123202788	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:123202788C>A	uc003ieh.3	+	49	8941	c.8896C>A	c.(8896-8898)Cag>Aag	p.Q2966K	KIAA1109_uc003iel.1_Missense_Mutation_p.Q901K	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	2966					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TGAATTTCCTCAGCTACCAGA	0.403000														30			47		4.10826e-27	5.76666e-27	0.003610	1	0
XIRP2	129446	broad.mit.edu	37	2	168074800	168074800	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:168074800G>A	uc002udx.3	+	4	937	c.848G>A	c.(847-849)aGa>aAa	p.R283K	XIRP2_uc010fpn.3_Missense_Mutation_p.R316K|XIRP2_uc010fpo.3_Missense_Mutation_p.R283K|XIRP2_uc002udy.3_Missense_Mutation_p.R108K|XIRP2_uc010fpq.3_Missense_Mutation_p.R61K|XIRP2_uc010fpr.3_Missense_Mutation_p.R61K	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	108					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						CATCAGAACAGATCTGAGCAG	0.408000														12			18		0	0	0.006122	0	0
NOD1	10392	broad.mit.edu	37	7	30492343	30492343	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:30492343G>T	uc003tav.3	-	5	1213	c.690C>A	c.(688-690)ttC>ttA	p.F230L	NOD1_uc010kvs.2_Intron	NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 1 (NOD1), mRNA.	230	NACHT.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of dendritic cell antigen processing and presentation|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						AGTGGAAGAAGAATTTGACCC	0.592000														3			53		3.10996e-30	4.36694e-30	0.003610	1	0
ZRANB3	84083	broad.mit.edu	37	2	136026661	136026661	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:136026661C>T	uc002tum.3	-	10	1374	c.1257G>A	c.(1255-1257)tgG>tgA	p.W419*	ZRANB3_uc002tuk.3_5'UTR|ZRANB3_uc002tul.3_Nonsense_Mutation_p.W419*|ZRANB3_uc002tun.1_3'UTR	NM_032143	NP_115519	Q5FWF4	ZRAB3_HUMAN	Homo sapiens zinc finger, RAN-binding domain containing 3 (ZRANB3), mRNA.	419	Helicase C-terminal.					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		GTCCAGGGTCCCAGTACAACT	0.383000														37			15		0	0	0.004990	0	0
AXL	558	broad.mit.edu	37	19	41727798	41727798	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:41727798C>T	uc010ehj.3	+	3	613	c.423C>T	c.(421-423)ttC>ttT	p.F141F	AXL_uc010ehi.1_Silent_p.F141F|AXL_uc010ehk.3_Silent_p.F141F	NM_021913	NP_068713	P30530	UFO_HUMAN	Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA.	141	Ig-like C2-type 2.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						TGCCTTACTTCCTGGAGGAGC	0.637000														20			15		0	0	0.004990	0	0
GTF2E1	2960	broad.mit.edu	37	3	120469688	120469688	+	Missense_Mutation	SNP	C	T	T	rs144112214	by1000genomes	TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:120469688C>T	uc003edz.4	+	1	403	c.289C>T	c.(289-291)Cgt>Tgt	p.R97C		NM_005513	NP_005504	P29083	T2EA_HUMAN	Homo sapiens general transcription factor IIE, polypeptide 1, alpha 56kDa (GTF2E1), mRNA.	97	HTH TFE/IIEalpha-type.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		CATCAATTATCGTACTCTTGT	0.408000														11			8		0	0	0.006214	0	0
CCDC36	339834	broad.mit.edu	37	3	49294323	49294324	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:49294323_49294324CC>AT	uc003cwk.2	+	9	1780_1781	c.1393_1394CC>AT	c.(1393-1395)cca>ATa	p.P465I	CCDC36_uc011bck.1_Missense_Mutation_p.P465I	NM_178173	NP_835467	Q8IYA8	CCD36_HUMAN	Homo sapiens coiled-coil domain containing 36 (CCDC36), transcript variant 1, mRNA.	465										endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		AAAACAAATCCCAATCCAGACC	0.540000														32			52		0	0	0.004672	0	0
TNIK	23043	broad.mit.edu	37	3	170908539	170908539	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:170908539C>T	uc003fhh.2	-	5	800	c.455G>A	c.(454-456)cGa>cAa	p.R152Q	TNIK_uc003fhi.2_Missense_Mutation_p.R152Q|TNIK_uc003fhj.2_Missense_Mutation_p.R152Q|TNIK_uc003fhk.2_Missense_Mutation_p.R152Q|TNIK_uc003fhl.2_Missense_Mutation_p.R152Q|TNIK_uc003fhm.2_Missense_Mutation_p.R152Q|TNIK_uc003fhn.2_Missense_Mutation_p.R152Q|TNIK_uc003fho.2_Missense_Mutation_p.R152Q	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.	152	Protein kinase.				Wnt receptor signaling pathway|actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TTTAATATCTCGATGAATCAC	0.413000														2			7		0	0	0.000673	0	0
ABCC9	10060	broad.mit.edu	37	12	22078976	22078976	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:22078976G>A	uc001rfh.3	-	2	326	c.306C>T	c.(304-306)ctC>ctT	p.L102L	ABCC9_uc001rfi.1_Silent_p.L102L|ABCC9_uc001rfk.3_Silent_p.L102L|ABCC9_uc001rfl.1_Silent_p.L102L	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	102					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TAAAGAGGTGGAGGTGCCTTG	0.378000														38			17		0	0	0.001216	0	0
OR2K2	26248	broad.mit.edu	37	9	114090661	114090661	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:114090661G>A	uc011lwp.2	-	0	53	c.53C>T	c.(52-54)tCc>tTc	p.S18F		NM_205859	NP_995581	Q8NGT1	OR2K2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily K, member 2 (OR2K2), mRNA.	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						TGGGTACTGGGAAAATCCCTC	0.388000														24			13		0	0	0.003163	0	0
ZFHX3	463	broad.mit.edu	37	16	72993163	72993163	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:72993163G>A	uc002fck.3	-	1	1555	c.882C>T	c.(880-882)gtC>gtT	p.V294V	ZFHX3_uc002fcl.3_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	294					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CAAACGAACGGACGTACCCAA	0.493000														3			31		0	0	0.002096	0	0
COL2A1	1280	broad.mit.edu	37	12	48369760	48369760	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:48369760C>T	uc001rqu.3	-	49	3764	c.3583G>A	c.(3583-3585)Gaa>Aaa	p.E1195K	COL2A1_uc001rqt.3_5'Flank|COL2A1_uc009zkw.3_Non-coding_Transcript|COL2A1_uc001rqv.3_Missense_Mutation_p.E1126K	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	1195	Triple-helical region.		Missing (in SEDC).		axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GGGCCGGTTTCGCCTGATCGT	0.607000														50			24		0	0	0.006320	0	0
ACADS	35	broad.mit.edu	37	12	121176362	121176362	+	Silent	SNP	C	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:121176362C>G	uc001tza.4	+	6	940	c.822C>G	c.(820-822)ggC>ggG	p.G274G	ACADS_uc010szl.1_Silent_p.G270G	NM_000017	NP_000008	P16219	ACADS_HUMAN	Homo sapiens acyl-CoA dehydrogenase, C-2 to C-3 short chain (ACADS), nuclear gene encoding mitochondrial protein, mRNA.	274						mitochondrial matrix	butyryl-CoA dehydrogenase activity			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	GCCGCATCGGCATCGCCTCCC	0.701000														107			46		0	0	0.003610	0	0
CHD6	84181	broad.mit.edu	37	20	40045287	40045287	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:40045287G>A	uc002xka.1	-	32	6605	c.6427C>T	c.(6427-6429)Ccg>Tcg	p.P2143S	CHD6_uc002xjz.1_5'Flank	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	2143					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GCTGCTTCCGGCTCTGAGAGG	0.577000														48			53		0	0	0.003610	0	0
F7	2155	broad.mit.edu	37	13	113768160	113768160	+	Splice_Site	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:113768160G>A	uc001vsv.3	+	5	368	c.317_splice	c.e5-1	p.D106_splice	F7_uc010agp.1_Splice_Site_p.D99_splice|F7_uc001vsw.3_Splice_Site_p.D84_splice|F7_uc010tjt.2_Splice_Site_p.D37_splice	NM_000131	NP_000122	P08709	FA7_HUMAN	Homo sapiens coagulation factor VII (serum prothrombin conversion accelerator) (F7), transcript variant 1, mRNA.	106	EGF-like 1; calcium-binding (Potential).				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	CCACTCCACAGATGGGGACCA	0.567000														41			39		0	0	0.001951	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110502190	110502190	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:110502190G>A	uc003yne.3	+	59	9994	c.9890G>A	c.(9889-9891)aGa>aAa	p.R3297K		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3297					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGAAATGCAAGAATAAGTAAT	0.328000										HNSCC(38;0.096)				0			4		0	0	0.000602	0	0
PCNT	5116	broad.mit.edu	37	21	47831555	47831556	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr21:47831555_47831556CC>TT	uc002zji.4	+	27	5675_5676	c.5568_5569CC>TT	c.(5566-5571)atccag>atTTag	p.Q1857*	PCNT_uc002zjj.3_Nonsense_Mutation_p.Q1739*	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	1857					G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CCTCCCGGATCCAGGAGTTCGA	0.614000														27			11		0	0	0.004672	0	0
TLL1	7092	broad.mit.edu	37	4	167021969	167021969	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:167021969G>A	uc003irh.2	+	20	3630	c.2983G>A	c.(2983-2985)Gga>Aga	p.G995R	TLL1_uc011cjn.2_Missense_Mutation_p.G1018R|TLL1_uc011cjo.2_Missense_Mutation_p.G819R	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	995	CUB 5.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		CAACAAGAAGGGATTTCATAT	0.343000														9			12		0	0	0.001368	0	0
WNT3	7473	broad.mit.edu	37	17	44847226	44847226	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:44847226C>T	uc002ikv.2	-	2	630	c.511G>A	c.(511-513)Gag>Aag	p.E171K		NM_030753	NP_110380	P56703	WNT3_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 3 (WNT3), mRNA.	171					Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			TCCGCGAACTCCCTGGACACT	0.667000														26			19		0	0	0.001523	0	0
RCC2	55920	broad.mit.edu	37	1	17749279	17749280	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:17749279_17749280GG>AA	uc001bal.3	-	3	625_626	c.576_577CC>TT	c.(574-579)gcccct>gcTTct	p.P193S	RCC2_uc001bam.3_Missense_Mutation_p.P193S	NM_001136204	NP_061185	Q9P258	RCC2_HUMAN	Homo sapiens regulator of chromosome condensation 2 (RCC2), transcript variant 2, mRNA.	193					cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle				breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		ATGAGTCTAGGGGCTTCTACTC	0.550000														39			16		0	0	0.004672	0	0
GREM1	26585	broad.mit.edu	37	15	33022969	33022969	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:33022969G>A	uc001zhe.2	+	1	237	c.78G>A	c.(76-78)aaG>aaA	p.K26K	GREM1_uc010uby.2_Silent_p.K26K|GREM1_uc001zhd.2_Intron|GREM1_uc021sio.1_Silent_p.K26K	NM_013372	NP_037504	O60565	GREM1_HUMAN	Homo sapiens gremlin 1 (GREM1), transcript variant 1, mRNA.	26					negative regulation of BMP signaling pathway|nervous system development|regulation of epithelial to mesenchymal transition	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)	10		all_lung(180;1.49e-09)		all cancers(64;2.97e-18)|Epithelial(43;3.15e-12)|GBM - Glioblastoma multiforme(186;2.32e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0107)		AAGGGAAAAAGAAAGGGTCCC	0.617000														1			37		0	0	0.006999	0	0
CLGN	1047	broad.mit.edu	37	4	141311802	141311802	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:141311802T>G	uc011chi.2	-	14	1950	c.1732A>C	c.(1732-1734)Aag>Cag	p.K578Q	CLGN_uc003iii.3_Missense_Mutation_p.K578Q	NM_001130675	NP_004353	O14967	CLGN_HUMAN	Homo sapiens calmegin (CLGN), transcript variant 2, mRNA.	578					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					GACCCAGACTTATTTGATTGA	0.313000														46			15		0	0	0.004007	0	0
RS1	6247	broad.mit.edu	37	X	18674775	18674775	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:18674775G>A	uc004cyo.3	-	2	217	c.182C>T	c.(181-183)cCa>cTa	p.P61L		NM_000330	NP_000321	O15537	XLRS1_HUMAN	Homo sapiens retinoschisin 1 (RS1), mRNA.	61					cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space				cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					ATACTCACCTGGTATACAGTC	0.537000														0			67		0	0	0.003610	0	0
ESRP2	80004	broad.mit.edu	37	16	68267988	68267988	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:68267988T>C	uc010cfa.1	-	2	538	c.350A>G	c.(349-351)gAt>gGt	p.D117G	ESRP2_uc002evp.1_5'Flank|ESRP2_uc002evq.1_Missense_Mutation_p.D117G	NM_024939	NP_079215	Q9H6T0	ESRP2_HUMAN	Homo sapiens epithelial splicing regulatory protein 2 (ESRP2), mRNA.	117					RNA splicing|mRNA processing|regulation of RNA splicing	nucleus	mRNA binding|nucleotide binding			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						CAAAGCCACATCCCCGTTCAC	0.602000														2			4		0	0	0.000602	0	0
TTN	7273	broad.mit.edu	37	2	179442799	179442799	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:179442799C>T	uc021vsy.1	-	270	60964	c.60739G>A	c.(60739-60741)Gaa>Aaa	p.E20247K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E13942K|TTN_uc021vta.1_Missense_Mutation_p.E13875K|TTN_uc021vtb.1_Missense_Mutation_p.E13750K|AX746670_uc002umv.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	21174	Ig-like 111.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTCGGAATTCATATTCAAGA	0.428000														15			6		0	0	0.001168	0	0
PCDHB4	56131	broad.mit.edu	37	5	140501838	140501838	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:140501838G>A	uc003lip.1	+	0	258	c.258G>A	c.(256-258)agG>agA	p.R86R		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	86	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTTCTGAGGGAGAAACTAG	0.522000														31			27		0	0	0.001512	0	0
BACE1	23621	broad.mit.edu	37	11	117161341	117161341	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:117161341G>A	uc001pqz.3	-	7	1588	c.1127C>T	c.(1126-1128)tCc>tTc	p.S376F	BACE1_uc001pqw.3_Missense_Mutation_p.S351F|BACE1_uc001pqx.3_Missense_Mutation_p.S307F|BACE1_uc001pqy.3_Missense_Mutation_p.S332F|BACE1_uc010rxg.2_Missense_Mutation_p.S251F|BACE1_uc010rxh.2_Missense_Mutation_p.S276F|BACE1_uc009yzo.1_Missense_Mutation_p.P44S|AB488780_uc021qqx.1_5'Flank|AB488780_uc010rxi.2_5'Flank	NM_012104	NP_036236	P56817	BACE1_HUMAN	Homo sapiens beta-site APP-cleaving enzyme 1 (BACE1), transcript variant a, mRNA.	376					beta-amyloid metabolic process|membrane protein ectodomain proteolysis	cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network	aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		GTCGTCTTGGGACGTGGCCAC	0.532000														15			10		0	0	0.000673	0	0
C1orf43	25912	broad.mit.edu	37	1	154180057	154180057	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:154180057G>A	uc001fei.2	-	6	1024	c.634C>T	c.(634-636)Cct>Tct	p.P212S	C1orf189_uc001fee.1_5'Flank|C1orf43_uc001feg.2_Missense_Mutation_p.P178S|C1orf43_uc001feh.2_Missense_Mutation_p.P160S|C1orf43_uc009wos.1_3'UTR	NM_001098616	NP_001092086	Q9BWL3	CA043_HUMAN	Homo sapiens chromosome 1 open reading frame 43 (C1orf43), transcript variant 3, mRNA.	212						integral to membrane	coenzyme binding|oxidoreductase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					GAGACCTCAGGGGACTGAGTT	0.498000														73			34		0	0	0.003755	0	0
SEMA5B	54437	broad.mit.edu	37	3	122629771	122629771	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:122629771C>T	uc003efz.1	-	21	3517	c.3213G>A	c.(3211-3213)ctG>ctA	p.L1071L	SEMA5B_uc011bju.1_Silent_p.L977L|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Silent_p.L1071L|SEMA5B_uc003efy.1_Silent_p.L49L	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA.	1071					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CAGGATGGACCAGTGTGGACT	0.577000														21			32		0	0	0.004878	0	0
LPA	4018	broad.mit.edu	37	6	160977130	160977130	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:160977130C>T	uc003qtl.3	-	30	5020	c.4900G>A	c.(4900-4902)Gga>Aga	p.G1634R		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	4142	Kringle 15.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	p.G1634*(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CATGTCCTTCCTGTGACAGTG	0.483000														39			32		0	0	0.005524	0	0
KCTD17	79734	broad.mit.edu	37	22	37457666	37457666	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:37457666C>T	uc010gxb.3	+	7	894	c.872C>T	c.(871-873)cCc>cTc	p.P291L	KCTD17_uc011amv.2_Missense_Mutation_p.P274L	NM_024681	NP_078957	Q8N5Z5	KCD17_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 17 (KCTD17), mRNA.	298	Pro-rich.					voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity			NS(1)|breast(1)|endometrium(1)|lung(1)|prostate(1)	5						AGCTGCCATCCCTGGTTTGTA	0.627000														10			7		0	0	0.001984	0	0
DNAH8	1769	broad.mit.edu	37	6	38950129	38950129	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:38950129G>A	uc021yzh.1	+	85	12951	c.12842G>A	c.(12841-12843)cGa>cAa	p.R4281Q	DNAH8_uc003ooe.2_Missense_Mutation_p.R4064Q|DNAH8_uc003oog.1_Missense_Mutation_p.R513Q	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAGGAGCGACGAAAATTTGGC	0.343000														79			21		0	0	0.003954	0	0
SLC25A23	79085	broad.mit.edu	37	19	6459553	6459553	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:6459553C>T	uc002mex.1	-	0	229	c.87G>A	c.(85-87)gtG>gtA	p.V29V	SLC25A23_uc002mev.3_Non-coding_Transcript	NM_024103	NP_077008	Q9BV35	SCMC3_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23 (SLC25A23), nuclear gene encoding mitochondrial protein, mRNA.	29	EF-hand 1.				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						CGTGCACGTCCACGCGGCCAT	0.756000														28			21		0	0	0.003954	0	0
GALE	2582	broad.mit.edu	37	1	24125210	24125210	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:24125210G>A	uc009vqo.1	-	2	342	c.132C>T	c.(130-132)tcC>tcT	p.S44S	GALE_uc001bhv.1_Silent_p.S44S|GALE_uc001bhx.1_Silent_p.S44S|GALE_uc001bhz.1_5'UTR|GALE_uc009vqq.1_Silent_p.S44S	NM_001127621	NP_001121093	Q14376	GALE_HUMAN	Homo sapiens UDP-galactose-4-epimerase (GALE), transcript variant 3, mRNA.	44					galactose catabolic process	cytosol	UDP-glucose 4-epimerase activity|coenzyme binding|protein homodimerization activity			endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		TCTCAGGCAGGGAGCCCCCTC	0.617000														11			4		0	0	0.000602	0	0
OR4B1	119765	broad.mit.edu	37	11	48239237	48239237	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:48239237G>A	uc010rhs.2	+	0	876	c.876G>A	c.(874-876)gtG>gtA	p.V292V		NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily B, member 1 (OR4B1), mRNA.	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						ATGCAGAGGTGAAAATCGCCA	0.423000														10			10		0	0	0.000673	0	0
RAF1	5894	broad.mit.edu	37	3	12633227	12633227	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:12633227C>A	uc003bxf.4	-	10	1588	c.1173G>T	c.(1171-1173)agG>agT	p.R391S	RAF1_uc011aut.2_Missense_Mutation_p.R176S|RAF1_uc011auu.2_Missense_Mutation_p.R309S	NM_002880	NP_002871	P04049	RAF1_HUMAN	Homo sapiens v-raf-1 murine leukemia viral oncogene homolog 1 (RAF1), mRNA.	391	Protein kinase.				Ras protein signal transduction|activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Sorafenib(DB00398)	CCACCTCATTCCTGAAGGCCT	0.517000			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome					20			38		2.61852e-08	3.6311e-08	0.002522	1	0
ADAMDEC1	27299	broad.mit.edu	37	8	24250837	24250837	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:24250837C>T	uc003xdz.2	+	2	490	c.270C>T	c.(268-270)tcC>tcT	p.S90S	ADAMDEC1_uc010lub.2_Silent_p.S11S|ADAMDEC1_uc011lab.1_Silent_p.S11S	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	90					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		TCATTCTCTCCCTACAAAAAA	0.333000														3			11		0	0	0.003163	0	0
OR51S1	119692	broad.mit.edu	37	11	4869628	4869628	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:4869628G>A	uc010qyo.2	-	0	811	c.811C>T	c.(811-813)Cct>Tct	p.P271S		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA.	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGCAGCTCAGGATGGTTAATC	0.473000														29			13		0	0	0.003163	0	0
TBCD	6904	broad.mit.edu	37	17	80763835	80763835	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:80763835C>T	uc002kfy.1	+	9	1165	c.1035C>T	c.(1033-1035)acC>acT	p.T345T	TBCD_uc002kfx.1_Silent_p.T328T|TBCD_uc002kfz.3_Silent_p.T345T	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	Homo sapiens tubulin folding cofactor D (TBCD), mRNA.	345					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	GTPase activator activity|beta-tubulin binding|chaperone binding					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			TCATCCTGACcgaagatgacg	0.607000														1			16		0	0	0.001216	0	0
TRPC3	7222	broad.mit.edu	37	4	122833183	122833183	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:122833183G>A	uc003ieg.2	-	4	1481	c.1407C>T	c.(1405-1407)ttC>ttT	p.F469F	TRPC3_uc010inr.2_Silent_p.F341F|TRPC3_uc003ief.2_Silent_p.F396F|TRPC3_uc011cgl.1_Silent_p.F133F	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA.	384					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GCAGACCCAGGAAGATGATGA	0.453000														24			10		0	0	0.006214	0	0
MCTP2	55784	broad.mit.edu	37	15	94986174	94986174	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:94986174G>A	uc002btj.3	+	17	2300	c.2235G>A	c.(2233-2235)gaG>gaA	p.E745E	MCTP2_uc010boj.3_Silent_p.E474E|MCTP2_uc010bok.3_Intron|MCTP2_uc002btl.3_Silent_p.E333E	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	745					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			ATGACGAGGAGGATGAAGATG	0.393000														3			43		0	0	0.003610	0	0
OXTR	5021	broad.mit.edu	37	3	8794894	8794894	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:8794894G>A	uc003brc.3	-	3	1561	c.939C>T	c.(937-939)atC>atT	p.I313I		NM_000916	NP_000907	P30559	OXYR_HUMAN	Homo sapiens oxytocin receptor (OXTR), mRNA.	313					female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)	GGAGCATGACGATGATGAAGG	0.552000														14			8		0	0	0.006214	0	0
SH2D3A	10045	broad.mit.edu	37	19	6759623	6759623	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:6759623C>T	uc002mft.3	-	3	672	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K	SH2D3A_uc010xjg.2_Missense_Mutation_p.E38K	NM_005490	NP_005481	Q9BRG2	SH23A_HUMAN	Homo sapiens SH2 domain containing 3A (SH2D3A), mRNA.	160					JNK cascade|small GTPase mediated signal transduction	intracellular	SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						GCGGGGTCTTCTCTTGACCGC	0.567000														86			55		0	0	0.003610	0	0
MAGEA6	4105	broad.mit.edu	37	X	151870060	151870060	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:151870060C>T	uc022chf.1	+	0	750	c.750C>T	c.(748-750)ttC>ttT	p.F250F	MAGEA6_uc004ffq.1_Silent_p.F250F|MAGEA6_uc004ffr.1_Silent_p.F250F	NM_175868	NP_787064	P43360	MAGA6_HUMAN	Homo sapiens melanoma antigen family A, 6 (MAGEA6), transcript variant 2, mRNA.	250	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CCCAATATTTCGTGCAGGAAA	0.537000														5			72		0	0	0.003610	0	0
MCRS1	10445	broad.mit.edu	37	12	49959431	49959431	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:49959431A>G	uc001rui.1	-	2	208	c.208T>C	c.(208-210)Ttc>Ctc	p.F70L	MCRS1_uc001ruj.2_Missense_Mutation_p.F44L|MCRS1_uc001ruk.1_Missense_Mutation_p.F57L|MCRS1_uc009zlj.1_5'UTR	NM_001012300	NP_001012300	Q96EZ8	MCRS1_HUMAN	Homo sapiens microspherule protein 1 (MCRS1), transcript variant 2, mRNA.	57	Ser-rich.				DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|MLL1 complex|cytoplasm|nucleolus	protein binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						TCATCATCGAACTTCTTCCTC	0.582000														45			41		0	0	0.003610	0	0
USP5	8078	broad.mit.edu	37	12	6964919	6964919	+	Splice_Site	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:6964919A>G	uc001qri.4	+	3	297	c.238_splice	c.e3-1	p.K80_splice	USP5_uc001qrh.4_Splice_Site_p.K80_splice	NM_001098536	NP_001092006	P45974	UBP5_HUMAN	Homo sapiens ubiquitin specific peptidase 5 (isopeptidase T) (USP5), transcript variant 1, mRNA.	80					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						TTCTTTACAGAAAGAGGAGGA	0.572000														42			19		0	0	0.005443	0	0
TNPO2	30000	broad.mit.edu	37	19	12822415	12822415	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:12822415G>A	uc002mup.3	-	8	1641	c.1179C>T	c.(1177-1179)atC>atT	p.I393I	TNPO2_uc002muq.3_Silent_p.I301I|TNPO2_uc002muo.3_Silent_p.I301I|TNPO2_uc002mur.3_Silent_p.I301I	NM_013433	NP_038461	O14787	TNPO2_HUMAN	Homo sapiens transportin 2 (TNPO2), transcript variant 2, mRNA.	301					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CATTCACCAAGATGGGGATCA	0.597000														8			8		0	0	0.006214	0	0
STIL	6491	broad.mit.edu	37	1	47753279	47753279	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:47753279G>A	uc001crd.1	-	9	1232	c.1077C>T	c.(1075-1077)agC>agT	p.S359S	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Silent_p.S312S|STIL_uc010omo.1_Silent_p.S359S|STIL_uc001crc.1_Silent_p.S359S|STIL_uc001cre.1_Silent_p.S359S|STIL_uc001crg.1_Silent_p.S312S	NM_001048166	NP_001041631	Q15468	STIL_HUMAN	Homo sapiens SCL/TAL1 interrupting locus (STIL), transcript variant 1, mRNA.	359					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				CTGCATTTTGGCTTTCAGCGC	0.318000														10			31		0	0	0.003271	0	0
NID2	22795	broad.mit.edu	37	14	52485933	52485933	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:52485933G>A	uc001wzo.3	-	13	3108	c.2874C>T	c.(2872-2874)ttC>ttT	p.F958F	NID2_uc010tqs.2_Silent_p.F910F|NID2_uc010tqt.1_Silent_p.F958F|NID2_uc001wzp.3_Silent_p.F958F	NM_007361	NP_031387	Q14112	NID2_HUMAN	Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA.	958	Thyroglobulin type-1 1.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GGGGGATGTGGAACCGGGCCC	0.602000														3			20		0	0	0.002299	0	0
GTF2H5	404672	broad.mit.edu	37	6	158613180	158613180	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:158613180C>T	uc003qrd.3	+	2	290	c.207C>T	c.(205-207)acC>acT	p.T69T		NM_207118	NP_997001	Q6ZYL4	TF2H5_HUMAN	Homo sapiens general transcription factor IIH, polypeptide 5 (GTF2H5), mRNA.	69					nucleotide-excision repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding						Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;5.98e-18)|BRCA - Breast invasive adenocarcinoma(81;2.83e-05)		TTTCCCTTACCCAGAAATGAA	0.388000								Nucleotide excision repair (NER)						15			15		0	0	0.004990	0	0
LAMA2	3908	broad.mit.edu	37	6	129637224	129637224	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:129637224A>T	uc021zfb.1	+	26	4071	c.3966A>T	c.(3964-3966)agA>agT	p.R1322S	LAMA2_uc003qbn.3_Missense_Mutation_p.R1322S|LAMA2_uc003qbo.3_Missense_Mutation_p.R1322S	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	1322	Laminin IV type A 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GAGTCCATAGAACTGTGACCC	0.348000														28			23		0	0	0.002299	0	0
FAM135B	51059	broad.mit.edu	37	8	139151271	139151271	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:139151271C>T	uc003yuy.3	-	17	4030	c.3859G>A	c.(3859-3861)Gat>Aat	p.D1287N	FAM135B_uc003yux.3_Missense_Mutation_p.D1188N|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	1287										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTGCGCAAATCAGCATTATCC	0.428000										HNSCC(54;0.14)				20			40		0	0	0.003610	0	0
RASAL3	64926	broad.mit.edu	37	19	15565475	15565475	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:15565475G>A	uc002nbe.2	-	11	2037	c.1951C>T	c.(1951-1953)Cgt>Tgt	p.R651C	RASAL3_uc002nbd.3_5'Flank	NM_022904	NP_075055	Q86YV0	RASL3_HUMAN	Homo sapiens RAS protein activator like 3 (RASAL3), mRNA.	651					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	p.R651C(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						TACGGGGCACGGTTGGCGAGG	0.662000											OREG0025322	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		2			12		0	0	0.000978	0	0
MYH8	4626	broad.mit.edu	37	17	10300235	10300235	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:10300235G>A	uc002gmm.2	-	30	4342	c.4247C>T	c.(4246-4248)tCc>tTc	p.S1416F	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1416					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CTTCTCAAGGGAAGCACATTT	0.498000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					13			27		0	0	0.006320	0	0
ASL	435	broad.mit.edu	37	7	65546834	65546834	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:65546834C>T	uc003tup.3	+	1	292	c.57C>T	c.(55-57)ccC>ccT	p.P19P	ASL_uc011kdu.1_Silent_p.P19P|ASL_uc003tuo.3_Silent_p.P19P|ASL_uc010kzx.2_Silent_p.P19P|ASL_uc011kdv.1_Silent_p.P19P|ASL_uc003tur.3_Silent_p.P19P|ASL_uc003tuq.3_Silent_p.P19P	NM_001024943	NP_001020114	P04424	ARLY_HUMAN	Homo sapiens argininosuccinate lyase (ASL), transcript variant 1, mRNA.	19					arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	CAGTGGACCCCATCATGGAGA	0.577000														11			23		0	0	0.003330	0	0
TTN	7273	broad.mit.edu	37	2	179577120	179577120	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:179577120C>T	uc021vsy.1	-	91	24022	c.23797G>A	c.(23797-23799)Gag>Aag	p.E7933K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E4594K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8860	Ig-like 61.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTGCATCCTCTACTGTGCTA	0.383000														27			38		0	0	0.004878	0	0
ARPP21	10777	broad.mit.edu	37	7	38288882	38288882	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:38288882C>T	uc003tfu.3	-	1	342	c.107G>A	c.(106-108)gGa>gAa	p.G36E	ARPP21_uc022aby.1_Intron|ARPP21_uc003tfv.3_Missense_Mutation_p.G36E|ARPP21_uc003tfw.3_Non-coding_Transcript|ARPP21_uc003tfx.1_Non-coding_Transcript|ARPP21_uc022abz.1_Non-coding_Transcript|ARPP21_uc003tfz.1_Non-coding_Transcript			Q9UBL0	ARP21_HUMAN	RecName: Full=T-cell receptor gamma-2 chain C region; AltName: Full=T-cell receptor gamma chain C region PT-gamma-1/2;	0						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						TTGATCAATTCCGTTTTTATT	0.358000														3			21		0	0	0.001882	0	0
USH2A	7399	broad.mit.edu	37	1	216074170	216074170	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:216074170G>A	uc001hku.1	-	38	7765	c.7378C>T	c.(7378-7380)Cgt>Tgt	p.R2460C		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	2460	Fibronectin type-III 11.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCGTTATTACGAGCTGGTGTA	0.502000										HNSCC(13;0.011)				7			20		0	0	0.001523	0	0
STX19	415117	broad.mit.edu	37	3	93733940	93733940	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:93733940C>T	uc003drh.1	-	1	431	c.174G>A	c.(172-174)caG>caA	p.Q58Q	ARL13B_uc003drc.3_Intron|ARL13B_uc010hop.3_Intron|ARL13B_uc003drf.3_Intron|ARL13B_uc003drg.3_Intron|ARL13B_uc003drd.3_Intron|ARL13B_uc003dre.3_Intron|STX19_uc021xbj.1_Silent_p.Q58Q	NM_001001850	NP_001001850	Q8N4C7	STX19_HUMAN	Homo sapiens syntaxin 19 (STX19), mRNA.	58					intracellular protein transport|vesicle-mediated transport	membrane	SNAP receptor activity	p.Q58H(2)		kidney(2)|large_intestine(2)|lung(4)|prostate(1)	9						TAATACTTTCCTGTAGTTTTT	0.388000														41			24		0	0	0.003954	0	0
SPEN	23013	broad.mit.edu	37	1	16255291	16255291	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:16255291G>A	uc001axk.1	+	10	2760	c.2556G>A	c.(2554-2556)agG>agA	p.R852R	SPEN_uc010obp.1_Silent_p.R811R	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	852					Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AAAAGCCCAGGAGTTGTAATA	0.473000														10			32		0	0	0.002096	0	0
CNTN4	152330	broad.mit.edu	37	3	2942482	2942482	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:2942482A>T	uc003bpc.3	+	10	1393	c.1054A>T	c.(1054-1056)Aat>Tat	p.N352Y	CNTN4_uc003bpb.1_Missense_Mutation_p.N24Y|CNTN4_uc021wsg.1_Missense_Mutation_p.N352Y|CNTN4_uc003bpd.1_Missense_Mutation_p.N352Y|CNTN4_uc003bpe.3_Missense_Mutation_p.N24Y|CNTN4_uc003bpf.3_Missense_Mutation_p.N24Y	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	352	Ig-like C2-type 4.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GTGGCTAAAAAATGGCGAACC	0.398000														13			19		0	0	0.001216	0	0
LAMA2	3908	broad.mit.edu	37	6	129813171	129813171	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:129813171G>A	uc021zfb.1	+	56	8129	c.8024G>A	c.(8023-8025)aGa>aAa	p.R2675K	LAMA2_uc003qbn.3_Missense_Mutation_p.R2673K|LAMA2_uc003qbo.3_Missense_Mutation_p.R2669K|BC035400_uc003qbq.3_Intron	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	2675	Laminin G-like 3.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TCCCCACTCAGAAATATTCCT	0.368000														22			21		0	0	0.002299	0	0
KL	9365	broad.mit.edu	37	13	33635799	33635799	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:33635799C>T	uc001uus.3	+	3	2591	c.2583C>T	c.(2581-2583)ttC>ttT	p.F861F	KL_uc001uur.1_3'UTR	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	Homo sapiens klotho (KL), mRNA.	861	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GGCTGAAGTTCAAGTACGGAG	0.517000														54			38		0	0	0.002852	0	0
C7	730	broad.mit.edu	37	5	40972595	40972595	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:40972595C>T	uc003jmh.3	+	14	2087	c.1973C>T	c.(1972-1974)tCc>tTc	p.S658F	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	658	Sushi 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GTGACTGTTTCCTGTTCAGGT	0.458000														37			33		0	0	0.002445	0	0
F8	2157	broad.mit.edu	37	X	154159290	154159290	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:154159290G>A	uc004fmt.3	-	13	2946	c.2775C>T	c.(2773-2775)ccC>ccT	p.P925P		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	925	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GCATACTTGGGGGTCCTAAGG	0.388000														0			29		0	0	0.002445	0	0
DCDC5	100506627	broad.mit.edu	37	11	30902714	30902714	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:30902714T>C	uc009yjk.1	-	24	3628	c.3559A>G	c.(3559-3561)Acc>Gcc	p.T1187A	DCDC5_uc001mss.1_Non-coding_Transcript|DCDC5_uc021qfk.1_Missense_Mutation_p.T846A|DCDC5_uc009yjj.2_Non-coding_Transcript	NM_020869	NP_065920	Q6ZRR9	DCDC5_HUMAN	Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA.	89					intracellular signal transduction					NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1)	31						CCTTTTGGGGTTTTGAAACCA	0.423000														5			7		0	0	0.001984	0	0
PCLO	27445	broad.mit.edu	37	7	82585290	82585290	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:82585290C>T	uc003uhx.2	-	4	5268	c.4979G>A	c.(4978-4980)gGa>gAa	p.G1660E	PCLO_uc003uhv.2_Missense_Mutation_p.G1660E	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1591					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CCCTCCTCCTCCAGTAACTAC	0.368000														29			31		0	0	0.007291	0	0
SENP2	59343	broad.mit.edu	37	3	185330417	185330417	+	Silent	SNP	A	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:185330417A>C	uc003fpn.3	+	8	1011	c.840A>C	c.(838-840)ggA>ggC	p.G280G	SENP2_uc011brv.2_Silent_p.G270G|SENP2_uc011brw.2_Silent_p.G93G	NM_021627	NP_067640	Q9HC62	SENP2_HUMAN	Homo sapiens SUMO1/sentrin/SMT3 specific peptidase 2 (SENP2), mRNA.	280					Wnt receptor signaling pathway|mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	SUMO-specific protease activity|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			AAACAAGGGGACCTCTATGTT	0.303000														213			72		0	0	0.003610	0	0
POTEE	445582	broad.mit.edu	37	2	132021792	132021792	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:132021792G>A	uc002tsn.2	+	14	2816	c.2764G>A	c.(2764-2766)Gac>Aac	p.D922N	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.D522N|POTEE_uc002tsl.2_Missense_Mutation_p.D504N|POTEE_uc010fmy.1_Missense_Mutation_p.D386N	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	922	Actin-like.						ATP binding										TGTTGCCCTGGACTTCGAGCA	0.592000														132			20		0	0	0.006320	0	0
EPHA6	285220	broad.mit.edu	37	3	96706696	96706696	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:96706696G>A	uc010how.1	+	2	1016	c.973G>A	c.(973-975)Gaa>Aaa	p.E325K	EPHA6_uc003drp.1_Missense_Mutation_p.E325K	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	230						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CTCTTTGGTTGAAGTACGGGG	0.473000														43			67		0	0	0.003610	0	0
FLI1	2313	broad.mit.edu	37	11	128638021	128638021	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:128638021C>T	uc010sbu.2	+	2	582	c.239C>T	c.(238-240)cCg>cTg	p.P80L	FLI1_uc010sbt.2_Intron|FLI1_uc010sbv.2_Missense_Mutation_p.P47L|FLI1_uc009zci.3_Missense_Mutation_p.P14L|FLI1_uc001qen.3_Missense_Mutation_p.P47L	NM_002017	NP_001161153	Q01543	FLI1_HUMAN	Homo sapiens Friend leukemia virus integration 1 (FLI1), transcript variant 1, mRNA.	80					hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		AGGGAGTCTCCGGTGGACTGC	0.572000			T	EWSR1	Ewing sarcoma									4			3		0	0	0.000248	0	0
OR4K5	79317	broad.mit.edu	37	14	20388947	20388947	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:20388947T>A	uc010tkw.2	+	0	182	c.182T>A	c.(181-183)tTt>tAt	p.F61Y		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y60*(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCTATGTACTTTCTCTTGGGA	0.413000														37			38		0	0	0.006230	0	0
DAB2IP	153090	broad.mit.edu	37	9	124528840	124528841	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:124528840_124528841CC>TT	uc004bln.3	+	8	1513_1514	c.1444_1445CC>TT	c.(1444-1446)ccg>TTg	p.P482L	DAB2IP_uc004blo.3_Missense_Mutation_p.P386L|DAB2IP_uc004blp.3_5'Flank	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	Homo sapiens DAB2 interacting protein (DAB2IP), transcript variant 1, mRNA.	510	Ras-GAP.			I -> T (in Ref. 1; AAM00371).	activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|Ras GTPase activator activity|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|signaling adaptor activity	p.A481T(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						TCGCGGCCGCCCGGACATCAGT	0.614000														12			14		0	0	0.004672	0	0
ZNF784	147808	broad.mit.edu	37	19	56133908	56133908	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:56133908C>A	uc002qll.1	-	1	195	c.181G>T	c.(181-183)Gag>Tag	p.E61*	ZNF784_uc010etb.1_Non-coding_Transcript	NM_203374	NP_976308	Q8NCA9	ZN784_HUMAN	Homo sapiens zinc finger protein 784 (ZNF784), mRNA.	61					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)	1			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		GAACCTGGCTCCGGGGGCTCA	0.652000														16			9		5.4927e-09	7.62213e-09	0.004482	1	0
SFTPD	6441	broad.mit.edu	37	10	81697732	81697732	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:81697732G>A	uc001kbh.3	-	7	1047	c.1004C>T	c.(1003-1005)tCc>tTc	p.S335F		NM_003019	NP_003010	P35247	SFTPD_HUMAN	Homo sapiens surfactant protein D (SFTPD), mRNA.	335	C-type lectin.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of T cell proliferation|negative regulation of interleukin-2 biosynthetic process|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			GGCCCAGTTGGAATAGACCAG	0.552000														87			65		0	0	0.003610	0	0
DIO2	1734	broad.mit.edu	37	14	80669140	80669140	+	Silent	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:80669140A>G	uc021rxa.1	-	2	875	c.822T>C	c.(820-822)atT>atC	p.I274I	DIO2_uc001xut.3_3'UTR|DIO2_uc010asx.3_3'UTR|DIO2_uc021rxb.1_Silent_p.I238I|DIO2_uc010asy.3_Silent_p.I238I	NM_001007023		Q92813	IOD2_HUMAN	Homo sapiens deiodinase, iodothyronine, type II (DIO2), transcript variant 3, mRNA.	238					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		CCAGATAAGCAATTTTCTGTC	0.493000														25			17		0	0	0.006122	0	0
IGDCC3	9543	broad.mit.edu	37	15	65622078	65622078	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:65622078G>A	uc002aos.2	-	11	2235	c.1983C>T	c.(1981-1983)ttC>ttT	p.F661F	IGDCC3_uc002aor.1_5'Flank	NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 3 (IGDCC3), mRNA.	661										breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCCTTTGGCCGAACAGGAGGA	0.627000														10			16		0	0	0.004007	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147024427	147024427	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:147024427C>T	uc010jgo.1	-	4	1217	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K	JAKMIP2_uc003loq.1_Missense_Mutation_p.E357K|JAKMIP2_uc011dbx.1_Missense_Mutation_p.E315K|JAKMIP2_uc003lor.1_Missense_Mutation_p.E357K|LOC153469_uc003lop.1_Intron	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	357						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGAATTTTCCTTGGTAACG	0.408000														24			21		0	0	0.003954	0	0
SCFD2	152579	broad.mit.edu	37	4	54231585	54231585	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:54231585G>A	uc003gzu.3	-	0	658	c.524C>T	c.(523-525)tCc>tTc	p.S175F	SCFD2_uc010igm.3_Missense_Mutation_p.S175F	NM_152540	NP_689753	Q8WU76	SCFD2_HUMAN	Homo sapiens sec1 family domain containing 2 (SCFD2), mRNA.	175					protein transport|vesicle docking involved in exocytosis					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TGGGAAAAGGGATGCAAAAGC	0.557000														9			17		0	0	0.007413	0	0
KCTD3	51133	broad.mit.edu	37	1	215793523	215793523	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:215793523T>C	uc001hks.3	+	17	2305	c.2011T>C	c.(2011-2013)Ttc>Ctc	p.F671L	KCTD3_uc001hkt.3_Missense_Mutation_p.F669L|KCTD3_uc010pub.2_Missense_Mutation_p.F569L|KCTD3_uc009xdn.3_Missense_Mutation_p.F395L	NM_016121	NP_057205	Q9Y597	KCTD3_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 3 (KCTD3), mRNA.	671						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		TTATAGGGACTTCCAGACTAT	0.443000														4			16		0	0	0.004007	0	0
RET	5979	broad.mit.edu	37	10	43623687	43623687	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:43623687G>A	uc001jal.3	+	19	3505	c.3315G>A	c.(3313-3315)gcG>gcA	p.A1105A		NM_020975	NP_066124	P07949	RET_HUMAN	Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	1105					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CACCCTCAGCGGCAAAATTAA	0.438000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma					33			30		0	0	0.002445	0	0
SLC7A13	157724	broad.mit.edu	37	8	87241932	87241932	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:87241932C>T	uc003ydq.1	-	0	673	c.575G>A	c.(574-576)cGa>cAa	p.R192Q	SLC7A13_uc003ydr.1_Missense_Mutation_p.R192Q	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter), member 13 (SLC7A13), mRNA.	192						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						ATTCTGAAATCGTTCTACATT	0.413000														12			38		0	0	0.006230	0	0
C4orf46	201725	broad.mit.edu	37	4	159592866	159592866	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:159592866A>C	uc003iqa.2	-	0	337	c.88T>G	c.(88-90)Tcc>Gcc	p.S30A	C4orf46_uc010iqp.1_Intron|ETFDH_uc010iqq.3_5'Flank|ETFDH_uc003iqb.3_5'Flank|ETFDH_uc011cjg.2_5'Flank|ETFDH_uc010iqr.3_5'Flank	NM_001008393	NP_001008394	Q504U0	CD046_HUMAN	Homo sapiens chromosome 4 open reading frame 46 (C4orf46), mRNA.	30										kidney(1)|lung(3)|skin(1)	5						CCGCCCGGGGAAGATGCTGCA	0.662000														4			11		0	0	0.001368	0	0
OR51B5	282763	broad.mit.edu	37	11	5364678	5364678	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:5364678G>A	uc001map.1	-	0	77	c.77C>T	c.(76-78)tCc>tTc	p.S26F	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Missense_Mutation_p.S26F	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 5 (OR51B5), transcript variant 1, mRNA.	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S26F(2)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAAAATACGGAAATCCAGTG	0.438000														15			9		0	0	0.000673	0	0
ILVBL	10994	broad.mit.edu	37	19	15226687	15226687	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:15226687C>T	uc002nam.3	-	13	1709	c.1588G>A	c.(1588-1590)Gaa>Aaa	p.E530K		NM_006844	NP_006835	A1L0T0	ILVBL_HUMAN	Homo sapiens ilvB (bacterial acetolactate synthase)-like (ILVBL), mRNA.	530	Thiamine pyrophosphate binding (By similarity).					integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						GTATCAAATTCGATGAGGCTG	0.587000														24			16		0	0	0.004007	0	0
MCHR2	84539	broad.mit.edu	37	6	100395698	100395698	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:100395698G>A	uc003pqh.1	-	2	647	c.332C>T	c.(331-333)tCc>tTc	p.S111F	MCHR2_uc003pqi.1_Missense_Mutation_p.S111F	NM_001040179	NP_115892	Q969V1	MCHR2_HUMAN	Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA.	111						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		AGTATCCAGGGATGTGATGAT	0.453000														14			13		0	0	0.002450	0	0
FSD1	79187	broad.mit.edu	37	19	4307944	4307944	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:4307944G>A	uc002lzy.2	+	3	462	c.309G>A	c.(307-309)caG>caA	p.Q103Q	FSD1_uc010xie.2_Silent_p.Q90Q|FSD1_uc010xif.2_Missense_Mutation_p.D87N	NM_024333	NP_077309	Q9BTV5	FSD1_HUMAN	Homo sapiens fibronectin type III and SPRY domain containing 1 (FSD1), mRNA.	103					cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCCAACCAGACTCTGCAGG	0.592000														23			7		0	0	0.003080	0	0
LAMA2	3908	broad.mit.edu	37	6	129824425	129824425	+	Splice_Site	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:129824425G>A	uc021zfb.1	+	60	8652	c.8547_splice	c.e60+1	p.K2849_splice	LAMA2_uc003qbn.3_Splice_Site_p.K2847_splice|LAMA2_uc003qbo.3_Splice_Site_p.K2843_splice|BC035400_uc003qbq.3_Intron	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	2849	Laminin G-like 4.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AGTGGCACAAGGTAATAGTCC	0.507000														9			11		0	0	0.001368	0	0
DZANK1	55184	broad.mit.edu	37	20	18374412	18374412	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:18374412G>A	uc010zsa.2	-	16	2018	c.1809C>T	c.(1807-1809)atC>atT	p.I603I	DZANK1_uc010zrz.2_Silent_p.I122I|DZANK1_uc002wqp.4_Silent_p.I294I|DZANK1_uc002wqr.4_Non-coding_Transcript|DZANK1_uc002wqs.4_Silent_p.I470I|DZANK1_uc002wqq.4_Silent_p.I584I	NM_001099407	NP_001092877	Q9NVP4	CT012_HUMAN	Homo sapiens double zinc ribbon and ankyrin repeat domains 1 (DZANK1), mRNA.	411						intracellular	zinc ion binding			NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						TTATCCTTTTGATTTTTTCAA	0.398000														25			15		0	0	0.004007	0	0
MEF2C	4208	broad.mit.edu	37	5	88025141	88025141	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:88025141C>T	uc003kjl.3	-	9	1317	c.888G>A	c.(886-888)caG>caA	p.Q296Q	MEF2C_uc021ybg.1_Silent_p.Q238Q|MEF2C_uc021ybh.1_Silent_p.Q230Q|MEF2C_uc003kji.2_Silent_p.Q278Q|MEF2C_uc003kjj.3_Silent_p.Q286Q|MEF2C_uc003kjk.3_Silent_p.Q286Q|MEF2C_uc003kjm.3_Silent_p.Q276Q	NM_001193347	NP_001180276	Q06413	MEF2C_HUMAN	Homo sapiens myocyte enhancer factor 2C (MEF2C), transcript variant 3, mRNA.	286					B cell proliferation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|apoptosis|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		ACTGAGCCGACTGGGAGTTAT	0.338000										HNSCC(66;0.2)				5			3		0	0	0.004672	0	0
SLC22A10	387775	broad.mit.edu	37	11	63069867	63069867	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:63069867C>T	uc009yor.3	+	6	1345	c.1137C>T	c.(1135-1137)ttC>ttT	p.F379F	SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_Silent_p.F219F	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	379						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GCAACATTTTCCTGTTGCAGG	0.408000														11			15		0	0	0.004007	0	0
LAMA5	3911	broad.mit.edu	37	20	60895934	60895934	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:60895934C>T	uc002ycq.3	-	48	6576	c.6509G>A	c.(6508-6510)tGt>tAt	p.C2170Y	LAMA5_uc021wfw.1_Missense_Mutation_p.C2170Y	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	2170	Domain II and I.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAGGACCACACAGTGGTCACA	0.642000														31			25		0	0	0.001786	0	0
PGK2	5232	broad.mit.edu	37	6	49754106	49754106	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:49754106G>A	uc003ozu.3	-	0	948	c.795C>T	c.(793-795)atC>atT	p.I265I		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	265					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	p.K264T(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					TATCTTTAACGATCTTGGCTC	0.418000														22			25		0	0	0.003954	0	0
KANK4	163782	broad.mit.edu	37	1	62739650	62739650	+	Missense_Mutation	SNP	C	T	T	rs149755007		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:62739650C>T	uc001dah.4	-	2	1503	c.1126G>A	c.(1126-1128)Gaa>Aaa	p.E376K	KANK4_uc001dai.4_Intron|KANK4_uc001dag.4_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA.	376								p.E376K(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GCTTTGATTTCCTCTTCCTGC	0.542000														78			18		0	0	0.001882	0	0
NETO1	81832	broad.mit.edu	37	18	70526289	70526289	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:70526289C>T	uc002lkw.3	-	3	525	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K	NETO1_uc002lky.2_Missense_Mutation_p.E81K|NETO1_uc002lkz.3_Missense_Mutation_p.E80K	NM_001201465	NP_001188394	Q8TDF5	NETO1_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA.	81	CUB 1.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		AAGTAAAGTTCAATGCACTGT	0.368000														29			5		0	0	0.004482	0	0
BCL7B	9275	broad.mit.edu	37	7	72954228	72954228	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:72954228G>A	uc003tyf.2	-	3	577	c.420C>T	c.(418-420)ggC>ggT	p.G140G	BCL7B_uc010lbf.2_Non-coding_Transcript|BCL7B_uc003tye.2_Non-coding_Transcript|BCL7B_uc003tyg.2_Intron	NM_001707	NP_001698	Q9BQE9	BCL7B_HUMAN	Homo sapiens B-cell CLL/lymphoma 7B (BCL7B), transcript variant 1, mRNA.	140							actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	9		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGATCTCCTGGCCCAGCGTTG	0.602000														16			15		0	0	0.006122	0	0
HEPN1	641654	broad.mit.edu	37	11	124789674	124789675	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:124789674_124789675CC>TT	uc001qbj.1	+	0	529_530	c.28_29CC>TT	c.(28-30)cca>TTa	p.P10L	HEPACAM_uc009zbj.3_3'UTR|HEPACAM_uc001qbk.3_3'UTR	NM_001037558	NP_001032647	Q6WQI6	HEPN1_HUMAN	Homo sapiens hepatocellular carcinoma, down-regulated 1 (HEPN1), mRNA.	10						cytoplasm				large_intestine(1)|lung(1)|stomach(1)	3	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0287)		TGGAATTGCTCCATGGGTTGAT	0.540000														31			12		0	0	0.004672	0	0
ATP2A3	489	broad.mit.edu	37	17	3832734	3832734	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:3832734G>A	uc002fwy.2	-	18	2923	c.2750C>T	c.(2749-2751)tCg>tTg	p.S917L	ATP2A3_uc010ckn.2_Missense_Mutation_p.S19L|ATP2A3_uc002fwz.2_Missense_Mutation_p.S917L|ATP2A3_uc002fxa.2_Missense_Mutation_p.S917L|ATP2A3_uc002fxb.2_Missense_Mutation_p.S917L|ATP2A3_uc002fxc.2_Missense_Mutation_p.S917L|ATP2A3_uc002fxd.2_Missense_Mutation_p.S917L|ATP2A3_uc002fwx.2_Missense_Mutation_p.S917L	NM_174953	NP_777613	Q93084	AT2A3_HUMAN	Homo sapiens ATPase, Ca++ transporting, ubiquitous (ATP2A3), transcript variant 5, mRNA.	917					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CTGGTTCTCCGAGACGCTGCC	0.677000														1			7		0	0	0.004482	0	0
DDX60	55601	broad.mit.edu	37	4	169183227	169183227	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:169183227T>A	uc003irp.3	-	23	3489	c.3197A>T	c.(3196-3198)aAg>aTg	p.K1066M		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	1066							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		AGCATCCATCTTTTTAATGAC	0.328000														49			12		0	0	0.000978	0	0
PCSK5	5125	broad.mit.edu	37	9	78547381	78547381	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:78547381C>T	uc004akc.2	+	1	817	c.279C>T	c.(277-279)ttC>ttT	p.F93F	PCSK5_uc004ajy.2_Silent_p.F93F|PCSK5_uc004ajz.3_Silent_p.F93F|PCSK5_uc004aka.3_Non-coding_Transcript	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	93					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CCCACAGTTTCATTTCAATGG	0.478000														3			16		0	0	0.007413	0	0
TCRB	0	broad.mit.edu	37	7	142099722	142099723	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:142099722_142099723GG>AA	uc003vyz.1	-	1	79_80	c.79_80CC>TT	c.(79-81)cct>TTt	p.P27F	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TCRB_uc022and.1_5'Flank|TCRB_uc022ane.1_Missense_Mutation_p.P27F					SubName: Full=Uncharacterized protein;																		TTTGTACCTAGGGGACTGGGAG	0.465000														29			18		0	0	0.004672	0	0
FGGY	55277	broad.mit.edu	37	1	60133042	60133042	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:60133042C>A	uc009wac.3	+	13	1668	c.1456C>A	c.(1456-1458)Ccc>Acc	p.P486T	FGGY_uc001czh.2_Non-coding_Transcript|FGGY_uc001czi.4_Missense_Mutation_p.P462T|FGGY_uc001czl.4_Missense_Mutation_p.P374T|FGGY_uc001czm.4_Missense_Mutation_p.P163T	NM_001113411	NP_001106882	Q96C11	FGGY_HUMAN	Homo sapiens FGGY carbohydrate kinase domain containing (FGGY), transcript variant 1, mRNA.	462					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					CAGCAAGAATCCCCTTTTTGT	0.478000														39			93		3.67945e-35	5.17033e-35	0.003610	1	0
NPDC1	56654	broad.mit.edu	37	9	139937428	139937428	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:139937428G>A	uc004cks.2	-	0	1117	c.444C>T	c.(442-444)ttC>ttT	p.F148F	NPDC1_uc004ckt.2_Silent_p.F70F	NM_015392	NP_056207	Q9NQX5	NPDC1_HUMAN	Homo sapiens neural proliferation, differentiation and control, 1 (NPDC1), mRNA.	70	Pro/Ser/Thr-rich.					integral to membrane				NS(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	5	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		GGTCCTCCTGGAAGGGCTGAA	0.652000														18			13		0	0	0.001368	0	0
UGT2B10	7365	broad.mit.edu	37	4	69693116	69693117	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:69693116_69693117GG>AA	uc003hee.3	+	4	1182_1183	c.1157_1158GG>AA	c.(1156-1158)ggg>gAA	p.G386E	UGT2B10_uc011cam.2_Missense_Mutation_p.G302E	NM_001075	NP_001066	P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	386					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						ATCTACCATGGGATCCCTATGG	0.411000														21			6		0	0	0.004672	0	0
PIK3C3	5289	broad.mit.edu	37	18	39573253	39573253	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:39573253C>T	uc002lap.3	+	6	792	c.734C>T	c.(733-735)cCa>cTa	p.P245L	PIK3C3_uc010xcl.2_Missense_Mutation_p.P182L	NM_002647	NP_002638	Q8NEB9	PK3C3_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 3 (PIK3C3), mRNA.	245					cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						GAATCATCTCCAATTTTAACA	0.294000										TSP Lung(28;0.18)				8			9		0	0	0.006214	0	0
CNGB1	1258	broad.mit.edu	37	16	57931767	57931767	+	Silent	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:57931767A>G	uc002emt.2	-	29	3093	c.3028T>C	c.(3028-3030)Ttg>Ctg	p.L1010L	CNGB1_uc010cdh.2_Silent_p.L1004L	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.	1010					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	p.L1010L(1)		breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GGGCCGCCCAAGACCTGCACT	0.547000														7			68		0	0	0.003610	0	0
TAF1L	138474	broad.mit.edu	37	9	32632604	32632604	+	Missense_Mutation	SNP	T	A	A	rs147191242		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:32632604T>A	uc003zrg.1	-	0	3064	c.2974A>T	c.(2974-2976)Aca>Tca	p.T992S	AX747113_uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	992					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TTCTGCTGTGTTGGTTTATTT	0.498000														39			74		0	0	0.003610	0	0
INCENP	3619	broad.mit.edu	37	11	61912743	61912743	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:61912743C>T	uc001nsw.1	+	12	2020	c.1818C>T	c.(1816-1818)atC>atT	p.I606I	INCENP_uc009ynw.1_Silent_p.I606I|INCENP_uc001nsx.1_Silent_p.I602I	NM_001040694	NP_001035784	Q9NQS7	INCE_HUMAN	Homo sapiens inner centromere protein antigens 135/155kDa (INCENP), transcript variant 1, mRNA.	606					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TTGCTCAGATCGACGAGAAGA	0.582000														40			29		0	0	0.001512	0	0
MUC17	140453	broad.mit.edu	37	7	100686139	100686139	+	Silent	SNP	T	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:100686139T>A	uc003uxp.1	+	2	11495	c.11442T>A	c.(11440-11442)acT>acA	p.T3814T	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3814	Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AAAGAAGCACTTTATTGACAA	0.488000														15			14		0	0	0.001855	0	0
TRANK1	9881	broad.mit.edu	37	3	36884118	36884118	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:36884118A>T	uc003cgj.3	-	16	5391	c.5143T>A	c.(5143-5145)Tgg>Agg	p.W1715R		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1715					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CTTACCTTCCAGCACTGGTGC	0.498000														17			6		0	0	0.003080	0	0
FAHD1	81889	broad.mit.edu	37	16	1877234	1877234	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:1877234G>A	uc002cnc.1	+	0	10	c.4G>A	c.(4-6)Gga>Aga	p.G2R	HAGH_uc002cmz.3_5'Flank|HAGH_uc002cna.3_5'Flank|HAGH_uc010uvp.2_5'Flank|HAGH_uc010bry.1_5'Flank|FAHD1_uc002cnd.3_Missense_Mutation_p.G2R|FAHD1_uc010brz.3_Missense_Mutation_p.G2R	NM_031208	NP_112485	Q6P587	FAHD1_HUMAN	Homo sapiens fumarylacetoacetate hydrolase domain containing 1 (FAHD1), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	2						mitochondrion	hydrolase activity|metal ion binding|protein binding			NS(1)|large_intestine(1)|liver(1)|ovary(2)|urinary_tract(1)	6						GCACTTGATGGGAATCATGGC	0.632000														13			17		0	0	0.006122	0	0
PADI4	23569	broad.mit.edu	37	1	17690111	17690111	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:17690111C>T	uc001baj.2	+	15	1881	c.1853C>T	c.(1852-1854)tCc>tTc	p.S618F		NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	Homo sapiens peptidyl arginine deiminase, type IV (PADI4), mRNA.	618					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	AAGGTGTGTTCCCTGCTGGAG	0.622000														15			4		0	0	0.000248	0	0
RBM5	10181	broad.mit.edu	37	3	50147110	50147110	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:50147110C>T	uc003cyg.3	+	14	1442	c.1267C>T	c.(1267-1269)Cct>Tct	p.P423S	RBM5_uc011bdj.2_Missense_Mutation_p.P367S|RBM5_uc011bdk.2_Missense_Mutation_p.P251S	NM_005778	NP_005769	P52756	RBM5_HUMAN	Homo sapiens RNA binding motif protein 5 (RBM5), transcript variant 1, mRNA.	423	Required for interaction with U2AF2.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTCCAATCCACCTGGCTCTCC	0.463000														65			15		0	0	0.002450	0	0
TNC	3371	broad.mit.edu	37	9	117786303	117786303	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:117786303G>A	uc004bjj.4	-	26	6856	c.6444C>T	c.(6442-6444)aaC>aaT	p.N2148N	TNC_uc010mvf.3_Silent_p.N1875N	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	2148	Fibrinogen C-terminal.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CACGGTGACAGTTCCTGTACC	0.542000														24			33		0	0	0.002445	0	0
AHNAK2	113146	broad.mit.edu	37	14	105420964	105420964	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:105420964G>A	uc010axc.1	-	6	944	c.824C>T	c.(823-825)cCc>cTc	p.P275L	AHNAK2_uc021seo.1_5'Flank|AHNAK2_uc001ypx.2_Missense_Mutation_p.P175L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	275						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGACCTCTGGGGTCCCGGCCC	0.602000														10			9		0	0	0.006214	0	0
ARAP2	116984	broad.mit.edu	37	4	36230271	36230271	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:36230271G>A	uc003gsq.2	-	1	1176	c.838C>T	c.(838-840)Cga>Tga	p.R280*	ARAP2_uc003gsr.1_Nonsense_Mutation_p.R280*	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	280					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						AGAAAAGATCGAGATGGTCTT	0.393000														13			10		0	0	0.006214	0	0
OR6K2	81448	broad.mit.edu	37	1	158669720	158669720	+	Silent	SNP	C	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:158669720C>G	uc001fsu.1	-	0	723	c.723G>C	c.(721-723)acG>acC	p.T241T		NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 2 (OR6K2), mRNA.	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					GAGAGACACACGTGGAAAATG	0.463000														7			20		0	0	0.001523	0	0
TFRC	7037	broad.mit.edu	37	3	195791241	195791242	+	Missense_Mutation	DNP	GG	AA	AA	rs142218775	by1000genomes	TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:195791241_195791242GG>AA	uc003fvz.4	-	10	1539_1540	c.1256_1257CC>TT	c.(1255-1257)tcc>tTT	p.S419F	TFRC_uc003fwa.4_Missense_Mutation_p.S419F|TFRC_uc010hzy.3_Missense_Mutation_p.S338F|TFRC_uc011btr.2_Missense_Mutation_p.S137F	NM_003234	NP_003225	P02786	TFR1_HUMAN	Homo sapiens transferrin receptor (p90, CD71) (TFRC), transcript variant 1, mRNA.	419					cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		TGCCTACACCGGATTTTGCAGC	0.401000			T	BCL6	NHL									31			12		0	0	0.004672	0	0
NCOR2	9612	broad.mit.edu	37	12	124839461	124839461	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:124839461G>A	uc021rga.1	-	24	3544	c.3427C>T	c.(3427-3429)Ccg>Tcg	p.P1143S	NCOR2_uc021rgb.1_Missense_Mutation_p.P1127S|NCOR2_uc010tbb.2_Missense_Mutation_p.P1136S|NCOR2_uc010tbc.2_Missense_Mutation_p.P1126S|NCOR2_uc021rgc.1_Missense_Mutation_p.P1126S|NCOR2_uc010tba.2_Missense_Mutation_p.P1144S|NCOR2_uc001ugj.1_Missense_Mutation_p.P1144S	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	1144					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TCTGAGTACGGGACGTGGAGC	0.662000														12			17		0	0	0.007413	0	0
LAMB1	3912	broad.mit.edu	37	7	107603364	107603364	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:107603364G>A	uc003vev.2	-	12	2076	c.1915C>T	c.(1915-1917)Cgc>Tgc	p.R639C	LAMB1_uc003vew.2_Missense_Mutation_p.R615C|LAMB1_uc003vex.3_Missense_Mutation_p.R615C|LAMB1_uc010ljn.1_Missense_Mutation_p.R701C	NM_002291	NP_002282	P07942	LAMB1_HUMAN	Homo sapiens laminin, beta 1 (LAMB1), mRNA.	615	Laminin IV type B.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	p.R615C(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCTCGTAGCGAATTAGGATG	0.453000														60			39		0	0	0.002522	0	0
GPR176	11245	broad.mit.edu	37	15	40094284	40094284	+	Silent	SNP	G	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:40094284G>T	uc001zkj.1	-	2	1463	c.597C>A	c.(595-597)tcC>tcA	p.S199S	GPR176_uc010uck.1_Silent_p.S139S	NM_007223	NP_009154	Q14439	GP176_HUMAN	Homo sapiens G protein-coupled receptor 176 (GPR176), mRNA.	199					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		GGTGGCCCAAGGAGTTGCTCC	0.557000											OREG0023053	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		27			10		1.08611e-07	1.50396e-07	0.000978	1	0
GLT8D1	55830	broad.mit.edu	37	3	52734291	52734291	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:52734291C>T	uc003dfi.4	-	2	333	c.102G>A	c.(100-102)agG>agA	p.R34R	GLT8D1_uc003dfk.3_Silent_p.R34R|GLT8D1_uc003dfl.3_Silent_p.R34R|GLT8D1_uc003dfm.3_Silent_p.R34R|GLT8D1_uc003dfn.3_Silent_p.R34R	NM_152932	NP_690909	Q68CQ7	GL8D1_HUMAN	Homo sapiens glycosyltransferase 8 domain containing 1 (GLT8D1), transcript variant 1, mRNA.	34						integral to membrane|mitochondrion	transferase activity, transferring glycosyl groups			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)	8				BRCA - Breast invasive adenocarcinoma(193;6.78e-05)|Kidney(197;0.000618)|KIRC - Kidney renal clear cell carcinoma(197;0.000779)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TAACCTCATTCCTTAACAAAC	0.423000														33			12		0	0	0.001855	0	0
MUC16	94025	broad.mit.edu	37	19	9068660	9068660	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:9068660G>A	uc002mkp.3	-	2	18990	c.18786C>T	c.(18784-18786)atC>atT	p.I6262I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6264	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.K6261K(1)		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						CCATGTCTGTGATCTTCGCCA	0.478000														37			33		0	0	0.002096	0	0
NHEJ1	79840	broad.mit.edu	37	2	219942890	219942890	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:219942890G>A	uc002vjp.4	-	5	773	c.627C>T	c.(625-627)ccC>ccT	p.P209P	NHEJ1_uc002vjq.4_Non-coding_Transcript	NM_024782	NP_079058	Q9H9Q4	NHEJ1_HUMAN	Homo sapiens nonhomologous end-joining factor 1 (NHEJ1), mRNA.	209					B cell differentiation|DNA recombination|T cell differentiation|central nervous system development|double-strand break repair via nonhomologous end joining|positive regulation of ligase activity|response to ionizing radiation	nonhomologous end joining complex|nucleus	DNA binding|identical protein binding			kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	12		Renal(207;0.0915)		Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112)		TCATGACAAAGGGCTTTCCAT	0.493000								Non-homologous end-joining						32			34		0	0	0.004878	0	0
TRIM38	10475	broad.mit.edu	37	6	25973439	25973440	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:25973439_25973440CC>TT	uc003nfm.3	+	6	1235_1236	c.800_801CC>TT	c.(799-801)tcc>tTT	p.S267F	TRIM38_uc010jqd.3_5'UTR	NM_006355	NP_006346	O00635	TRI38_HUMAN	Homo sapiens tripartite motif containing 38 (TRIM38), mRNA.	267					positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						GAGGCTGTCTCCTTGGAACTTC	0.401000														9			10		0	0	0.004672	0	0
DCAF5	8816	broad.mit.edu	37	14	69520769	69520769	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:69520769G>A	uc001xkp.3	-	8	2853	c.2634C>T	c.(2632-2634)ctC>ctT	p.L878L	DCAF5_uc001xkq.3_Silent_p.L877L	NM_003861	NP_003852	Q96JK2	DCAF5_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 5 (DCAF5), nuclear gene encoding mitochondrial protein, mRNA.	878						CUL4 RING ubiquitin ligase complex				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						CTTTGTGTAGGAGTGTCCCTG	0.562000														42			6		0	0	0.001168	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589843	140589843	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:140589843C>T	uc003liz.3	+	0	1553	c.1364C>T	c.(1363-1365)tCc>tTc	p.S455F	PCDHB12_uc011dak.2_Missense_Mutation_p.S118F	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	455					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCCAAACTTCCTACGCCCTG	0.612000														45			36		0	0	0.007835	0	0
NSUN7	79730	broad.mit.edu	37	4	40778090	40778090	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:40778090C>A	uc003gvj.4	+	6	1345	c.850C>A	c.(850-852)Cat>Aat	p.H284N	NSUN7_uc003gvi.4_Missense_Mutation_p.H284N	NM_024677	NP_078953			Homo sapiens NOP2/Sun domain family, member 7 (NSUN7), mRNA.											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						TCTTGCTGTCCATTCTGTAAA	0.328000														28			14		1.15088e-07	1.59308e-07	0.004007	1	0
TPM3	7170	broad.mit.edu	37	1	154163752	154163752	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:154163752C>T	uc001fec.1	-	1	268	c.153G>A	c.(151-153)ctG>ctA	p.L51L		NM_152263	NP_689476	P06753	TPM3_HUMAN	Homo sapiens tropomyosin 3 (TPM3), transcript variant 1, mRNA.	50					cellular component movement|muscle filament sliding|regulation of muscle contraction	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding		TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					CTGTCCCTTTCAGCTTCTTCT	0.502000			T	"""NTRK1, ALK, ROS1"""	"""papillary thyroid, ALCL, NSCLC"""									55			12		0	0	0.001855	0	0
HLA-DRB5	3127	broad.mit.edu	37	6	32489901	32489901	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:32489901C>T	uc003obj.3	-	1	156	c.151G>A	c.(151-153)Gag>Aag	p.E51K	HLA-DRB5_uc003obk.4_Missense_Mutation_p.E51K|HLA-DRB5_uc021yvx.1_Intron	NM_002125	NP_002116	Q30154	DRB5_HUMAN	Homo sapiens major histocompatibility complex, class II, DR beta 5 (HLA-DRB5), mRNA.	51	Beta-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|integral to membrane|late endosome membrane|lysosomal membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						CGCACCCGCTCCGTCCCGTTG	0.602000														2			12		0	0	0.004990	0	0
WRN	7486	broad.mit.edu	37	8	30938556	30938556	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:30938556T>G	uc003xio.4	+	8	1801	c.1013T>G	c.(1012-1014)gTt>gGt	p.V338G	WRN_uc011lbd.1_Missense_Mutation_p.V41G|WRN_uc011lbe.1_5'Flank	NM_000553	NP_000544	Q14191	WRN_HUMAN	Homo sapiens Werner syndrome, RecQ helicase-like (WRN), mRNA.	338					DNA recombination|DNA synthesis involved in DNA repair|base-excision repair|cellular response to starvation|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to UV-C|response to oxidative stress|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|G-quadruplex DNA binding|Y-form DNA binding|bubble DNA binding|four-way junction helicase activity|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity	p.V338I(1)		central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		GAACATGAAGTTTTAATTCAC	0.353000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome					5			7		0	0	0.001984	0	0
DMKN	93099	broad.mit.edu	37	19	36004242	36004242	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:36004242C>T	uc002nzm.4	-	0	319	c.136G>A	c.(136-138)Gcc>Acc	p.A46T	DMKN_uc002nzl.4_5'Flank|DMKN_uc002nzk.4_5'Flank|DMKN_uc002nzo.4_Missense_Mutation_p.A46T|DMKN_uc002nzn.4_Missense_Mutation_p.A46T|DMKN_uc002nzu.2_5'Flank|DMKN_uc002nzv.2_5'Flank|DMKN_uc002nzw.2_5'Flank|DMKN_uc002nzq.2_5'Flank|DMKN_uc002nzp.2_5'Flank|DMKN_uc002nzr.2_5'Flank|DMKN_uc002nzs.2_5'Flank|DMKN_uc002nzt.2_5'Flank|DMKN_uc010xsw.2_5'Flank|DMKN_uc010xsv.1_5'Flank|DMKN_uc002nzx.4_5'Flank|DMKN_uc002nzy.4_5'Flank|DMKN_uc002nzz.3_Missense_Mutation_p.A46T|DMKN_uc002oaa.4_Missense_Mutation_p.A46T|DMKN_uc002oab.4_Missense_Mutation_p.A46T|DMKN_uc002oac.4_Missense_Mutation_p.A46T	NM_033317	NP_201574	Q6E0U4	DMKN_HUMAN	Homo sapiens dermokine (DMKN), transcript variant 2, mRNA.	46	Gly-rich.					extracellular region				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TCGCTCAGGGCGTCTCCCAGG	0.642000														31			30		0	0	0.002096	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21032429	21032429	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:21032429A>T	uc010sil.2	+	8	1260	c.1195A>T	c.(1195-1197)Aaa>Taa	p.K399*	SLCO1B3_uc001rek.3_Nonsense_Mutation_p.K399*|SLCO1B3_uc001rel.3_Nonsense_Mutation_p.K399*|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	399					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	p.K398T(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TATCATTAAAAAATTCAAATT	0.294000														12			24		0	0	0.003954	0	0
RAI14	26064	broad.mit.edu	37	5	34830821	34830821	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:34830821T>C	uc003jis.3	+	19	3442	c.2903T>C	c.(2902-2904)gTa>gCa	p.V968A	RAI14_uc003jir.3_Missense_Mutation_p.V965A|RAI14_uc010iur.3_Missense_Mutation_p.V936A|RAI14_uc011coj.2_Missense_Mutation_p.V965A|RAI14_uc003jit.3_Missense_Mutation_p.V965A|RAI14_uc011cok.2_Missense_Mutation_p.V957A	NM_001145525	NP_001138997	Q9P0K7	RAI14_HUMAN	Homo sapiens retinoic acid induced 14 (RAI14), transcript variant 6, mRNA.	965						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					GTCCAGAAAGTACTGAAGCAA	0.413000														19			18		0	0	0.001216	0	0
CARNS1	57571	broad.mit.edu	37	11	67187015	67187015	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:67187015C>T	uc001olc.4	+	3	2138	c.958C>T	c.(958-960)Ccg>Tcg	p.P320S	PPP1CA_uc001okx.1_Silent_p.R61R|CARNS1_uc010rpr.2_Missense_Mutation_p.P304S|CARNS1_uc009yrp.3_Missense_Mutation_p.P181S	NM_020811	NP_065862	A5YM72	CRNS1_HUMAN	Homo sapiens carnosine synthase 1 (CARNS1), transcript variant 2, mRNA.	181					carnosine biosynthetic process		ATP binding|carnosine synthase activity|metal ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)	11						GCGTCTGCACCCGCGGGCAGA	0.677000														20			16		0	0	0.004990	0	0
MKL1	57591	broad.mit.edu	37	22	40814595	40814595	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:40814595G>A	uc003ayv.1	-	8	2054	c.1847C>T	c.(1846-1848)cCg>cTg	p.P616L	MKL1_uc010gyf.1_Missense_Mutation_p.P566L|MKL1_uc003ayw.1_Missense_Mutation_p.P616L|MKL1_uc010gye.1_Missense_Mutation_p.P616L	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	Homo sapiens megakaryoblastic leukemia (translocation) 1 (MKL1), mRNA.	616	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						CGGGGGCCCCGGGGCCACAGC	0.716000			T	RBM15	acute megakaryocytic leukemia									19			15		0	0	0.004990	0	0
SHC2	25759	broad.mit.edu	37	19	425229	425229	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:425229G>A	uc002loq.4	-	9	1177	c.1177C>T	c.(1177-1179)Cca>Tca	p.P393S		NM_012435	NP_036567	P98077	SHC2_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) transforming protein 2 (SHC2), mRNA.	393	CH1.				Ras protein signal transduction|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway	cytosol				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-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)		TCCCCCGGTGGAGCTGGGGAG	0.731000														13			14		0	0	0.004007	0	0
KIF26A	26153	broad.mit.edu	37	14	104642788	104642788	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:104642788C>T	uc001yos.4	+	11	3663	c.3663C>T	c.(3661-3663)acC>acT	p.T1221T		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	Homo sapiens kinesin family member 26A (KIF26A), mRNA.	1221					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CTGCCACCACCCGTGTGGGCT	0.711000														10			14		0	0	0.001855	0	0
SNAP91	9892	broad.mit.edu	37	6	84270587	84270587	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:84270587C>T	uc021zcf.1	-	25	2552	c.2522G>A	c.(2521-2523)gGa>gAa	p.G841E	SNAP91_uc011dzd.2_Missense_Mutation_p.G339E|SNAP91_uc003pka.3_Missense_Mutation_p.G839E|SNAP91_uc011dze.2_Missense_Mutation_p.G839E|SNAP91_uc003pkc.3_Missense_Mutation_p.G811E|SNAP91_uc003pkd.3_Missense_Mutation_p.G534E|SNAP91_uc003pkb.3_Missense_Mutation_p.G750E	NM_014841	NP_055656	O60641	AP180_HUMAN	Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.	841	Pro-rich.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		ACTCACCATTCCAAATCCTGC	0.418000														21			13		0	0	0.003163	0	0
IPO4	79711	broad.mit.edu	37	14	24656149	24656149	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:24656149G>C	uc001wmv.1	-	7	1712	c.691C>G	c.(691-693)Ctg>Gtg	p.L231V	IPO4_uc001wmt.1_5'Flank|IPO4_uc001wmu.2_5'UTR|IPO4_uc001wmw.1_Non-coding_Transcript|IPO4_uc010tnz.1_Non-coding_Transcript|IPO4_uc001wmx.1_Missense_Mutation_p.L95V|IPO4_uc001wmy.1_Missense_Mutation_p.L95V|IPO4_uc001wmz.2_Missense_Mutation_p.L231V	NM_024658	NP_078934	Q8TEX9	IPO4_HUMAN	Homo sapiens importin 4 (IPO4), mRNA.	231					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		GACTCCAACAGTTCATCCAAA	0.552000														18			20		0	0	0.007413	0	0
PRH1	5554	broad.mit.edu	37	12	11035181	11035181	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:11035181G>A	uc021qvf.1	-	2	275	c.217C>T	c.(217-219)Cca>Tca	p.P73S	PRH1_uc001qzb.4_Non-coding_Transcript|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Non-coding_Transcript|PRB4_uc001qzf.1_Intron	NM_006250	NP_006241	P02810	PRPC_HUMAN	Homo sapiens proline-rich protein HaeIII subfamily 1 (PRH1), mRNA.	73						extracellular space	protein binding			endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(232;0.245)		TGTTGGGGTGGTCCCTGCTGA	0.597000														23			26		0	0	0.004878	0	0
CEACAM6	4680	broad.mit.edu	37	19	42260749	42260749	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:42260749C>T	uc002orm.2	+	1	455	c.306C>T	c.(304-306)taC>taT	p.Y102Y		NM_002483	NP_002474	P40199	CEAM6_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen) (CEACAM6), mRNA.	102	Ig-like V-type.				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		AGACAATATACCCCAATGCAT	0.463000														130			110		0	0	0.003610	0	0
NEBL	10529	broad.mit.edu	37	10	21097533	21097533	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:21097533G>A	uc001iqi.3	-	25	3064	c.2667C>T	c.(2665-2667)ttC>ttT	p.F889F	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	889	Linker.				regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GACCTGTACCGAAAGTACTGC	0.463000														39			37		0	0	0.004878	0	0
IKZF3	22806	broad.mit.edu	37	17	37988405	37988405	+	Splice_Site	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:37988405C>T	uc002hsu.3	-	2	70	c.8_splice	c.e2-1	p.D3_splice	IKZF3_uc002htd.3_Splice_Site_p.D3_splice|IKZF3_uc010cwd.3_Splice_Site_p.D3_splice|IKZF3_uc002hsv.3_Splice_Site_p.D3_splice|IKZF3_uc010cwe.3_Splice_Site_p.D3_splice|IKZF3_uc010cwf.3_Splice_Site_p.D3_splice|IKZF3_uc010cwg.3_Splice_Site_p.D3_splice|IKZF3_uc002hsw.3_Splice_Site_p.D3_splice|IKZF3_uc002hsx.3_Splice_Site_p.D3_splice|IKZF3_uc002hsy.3_Splice_Site_p.D3_splice|IKZF3_uc002hsz.3_Splice_Site_p.D3_splice|IKZF3_uc002hta.3_Splice_Site_p.D3_splice|IKZF3_uc002htb.3_Splice_Site|IKZF3_uc010cwh.3_Splice_Site_p.D3_splice|IKZF3_uc002htc.3_Splice_Site	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	Homo sapiens IKAROS family zinc finger 3 (Aiolos) (IKZF3), transcript variant 1, mRNA.	3					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GTTTGTATATCTGAAAAGAAA	0.363000														18			11		0	0	0.001368	0	0
KIF5C	3800	broad.mit.edu	37	2	149866805	149866805	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:149866805C>T	uc010zbu.2	+	23	3102	c.2707C>T	c.(2707-2709)Cgt>Tgt	p.R903C	KIF5C_uc002tws.1_Non-coding_Transcript|KIF5C_uc002twu.1_Missense_Mutation_p.R185C	NM_004522	NP_004513	O60282	KIF5C_HUMAN	Homo sapiens kinesin family member 5C (KIF5C), mRNA.	903	Globular.				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		GGAGGTGGATCGTATCAAGGA	0.647000														6			4		0	0	0.001168	0	0
OBSCN	84033	broad.mit.edu	37	1	228494234	228494234	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:228494234G>A	uc009xez.1	+	43	11865	c.11821G>A	c.(11821-11823)Ggc>Agc	p.G3941S	OBSCN_uc001hsn.3_Missense_Mutation_p.G3941S	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	3941	Ig-like 40.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ACGGCTTCAGGGCTGCACCGC	0.632000														48			16		0	0	0.001216	0	0
THSD7B	80731	broad.mit.edu	37	2	137814036	137814036	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:137814036G>A	uc002tva.1	+	1	93	c.93G>A	c.(91-93)caG>caA	p.Q31Q	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_5'UTR	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GAGGAGTCCAGAGTCGGGCAG	0.498000														10			18		0	0	0.002299	0	0
TCL1B	9623	broad.mit.edu	37	14	96157078	96157078	+	Silent	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:96157078A>G	uc001yfa.3	+	1	219	c.168A>G	c.(166-168)gaA>gaG	p.E56E	TCL1B_uc021sbi.1_Non-coding_Transcript|TCL1B_uc001yew.3_Non-coding_Transcript|TCL1B_uc001yex.3_Non-coding_Transcript|TCL1B_uc010avj.3_Non-coding_Transcript|TCL1B_uc001yez.3_Silent_p.E56E	NM_004918	NP_004909	O95988	TCL1B_HUMAN	Homo sapiens T-cell leukemia/lymphoma 1B (TCL1B), transcript variant 1, mRNA.	56								p.E56D(2)		cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		TTCAGTATGAACCCAGCATCA	0.602000														61			35		0	0	0.005524	0	0
SNX15	29907	broad.mit.edu	37	11	64800007	64800008	+	Missense_Mutation	DNP	CC	TT	TT	rs142024969	byFrequency	TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:64800007_64800008CC>TT	uc001oci.4	+	5	894_895	c.240_241CC>TT	c.(238-243)ccccgg>ccTTgg	p.R81W	SNX15_uc001ock.3_Missense_Mutation_p.R81W	NM_013306	NP_037438	Q9NRS6	SNX15_HUMAN	Homo sapiens sorting nexin 15 (SNX15), transcript variant A, mRNA.	81	PX.				cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						CTGCTTTCCCCCGGGCCCAGGT	0.624000														28			16		0	0	0.004672	0	0
MAGI1	9223	broad.mit.edu	37	3	65607716	65607716	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:65607716G>A	uc003dmn.3	-	1	887	c.361C>T	c.(361-363)Cag>Tag	p.Q121*	MAGI1_uc003dmm.3_Nonsense_Mutation_p.Q121*|MAGI1_uc003dmo.3_Nonsense_Mutation_p.Q121*|MAGI1_uc003dmp.3_Nonsense_Mutation_p.Q121*|MAGI1_uc010hny.2_5'UTR|MAGI1_uc021xac.1_Nonsense_Mutation_p.Q121*|MAGI1_uc003dmr.3_Nonsense_Mutation_p.Q121*	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.	121	Guanylate kinase-like.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GACCCCTTCTGGAATCGCTGA	0.478000														44			19		0	0	0.001216	0	0
LRP1	4035	broad.mit.edu	37	12	57593717	57593717	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:57593717C>T	uc001snd.3	+	61	10389	c.9923C>T	c.(9922-9924)tCc>tTc	p.S3308F		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	3308	EGF-like 13.				aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGCCTGCTGTCCCCCGGGGGA	0.597000														16			28		0	0	0.001512	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19428887	19428887	+	RNA	SNP	A	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:19428887A>T	uc010tcj.1	-	0		c.17223T>A								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		ccTCCAACAAATGACTTTTTA	0.473000														17			24		0	0	0.002780	0	0
KIAA1383	54627	broad.mit.edu	37	1	232943530	232943530	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:232943530C>T	uc001hvh.2	+	0	2893	c.2761C>T	c.(2761-2763)Cat>Tat	p.H921Y		NM_019090	NP_061963	Q9P2G4	K1383_HUMAN	Homo sapiens KIAA1383 (KIAA1383), mRNA.	779										breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)	20		all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169)				CAGAAAATTTCATATTTCAAA	0.383000														18			36		0	0	0.006999	0	0
WISP1	8840	broad.mit.edu	37	8	134237763	134237763	+	Silent	SNP	T	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:134237763T>C	uc003yub.3	+	3	847	c.741T>C	c.(739-741)ccT>ccC	p.P247P	WISP1_uc003yuc.3_Silent_p.P160P|WISP1_uc010meb.3_Silent_p.P75P|WISP1_uc010mec.3_Intron|WISP1_uc010med.3_Intron|WISP1_uc003yud.3_Intron	NM_003882	NP_003873	O95388	WISP1_HUMAN	Homo sapiens WNT1 inducible signaling pathway protein 1 (WISP1), transcript variant 1, mRNA.	247	TSP type-1.				Wnt receptor signaling pathway|cell adhesion|cell-cell signaling|regulation of cell growth	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			AGTGCTGGCCTGAGCAAGAGA	0.582000														20			31		0	0	0.003271	0	0
FREM1	158326	broad.mit.edu	37	9	14775852	14775852	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:14775852C>T	uc003zlm.3	-	25	5608	c.4792G>A	c.(4792-4794)Ggg>Agg	p.G1598R	FREM1_uc010mic.3_Intron|FREM1_uc003zlk.3_5'Flank|FREM1_uc003zll.3_Missense_Mutation_p.G134R	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1598					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TGGTTTGTCCCATCTGTGGCC	0.468000														26			30		0	0	0.007291	0	0
NPAS2	4862	broad.mit.edu	37	2	101564765	101564765	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:101564765C>T	uc010yvt.1	+	5	629	c.627C>T	c.(625-627)atC>atT	p.I209I	NPAS2_uc002tap.1_Silent_p.I144I	NM_002518	NP_002509	Q99743	NPAS2_HUMAN	Homo sapiens neuronal PAS domain protein 2 (NPAS2), mRNA.	144					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.D209N(1)		cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTTATAAAATCCTTTCTTCCC	0.343000														44			9		0	0	0.000673	0	0
MAP1A	4130	broad.mit.edu	37	15	43814986	43814986	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:43814986G>A	uc001zrt.3	+	3	1782	c.1315G>A	c.(1315-1317)Gag>Aag	p.E439K		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	439	9 X 3 AA repeats of K-K-[DE].|Lys-rich (basic).			E -> D (in Ref. 4; AAD00355).		cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	aaggaaggaggagaagaagga	0.418000														0			8		0	0	0.003080	0	0
TRIM67	440730	broad.mit.edu	37	1	231339688	231339688	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:231339688C>T	uc009xfn.1	+	5	1652	c.1610C>T	c.(1609-1611)cCa>cTa	p.P537L		NM_001004342	NP_001004342	Q6ZTA4	TRI67_HUMAN	Homo sapiens tripartite motif containing 67 (TRIM67), mRNA.	537	Fibronectin type-III.					cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				TGGAGGATGCCACCCTTCACC	0.632000														23			11		0	0	0.000978	0	0
CRABP1	1381	broad.mit.edu	37	15	78633476	78633476	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:78633476G>C	uc002bdp.2	+	1	267	c.162G>C	c.(160-162)aaG>aaC	p.K54N		NM_004378	NP_004369	P29762	RABP1_HUMAN	Homo sapiens cellular retinoic acid binding protein 1 (CRABP1), mRNA.	54					multicellular organismal development|signal transduction	cytoplasm	retinal binding|retinol binding|transporter activity			breast(1)|lung(4)|skin(1)	6					Alitretinoin(DB00523)|Etretinate(DB00926)	TCTACATCAAGACATCCACCA	0.612000														1			16		0	0	0.004007	0	0
SZT2	23334	broad.mit.edu	37	1	43903334	43903334	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:43903334C>T	uc001cjk.2	+	43	6272	c.3662C>T	c.(3661-3663)tCc>tTc	p.S1221F		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.	2120						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CTCGCTCTGTCCCGAAGCCAA	0.582000														7			24		0	0	0.003330	0	0
ZC3H12A	80149	broad.mit.edu	37	1	37945972	37945972	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:37945972C>T	uc001cbb.4	+	2	675	c.525C>T	c.(523-525)atC>atT	p.I175I	ZC3H12A_uc001cbc.1_5'UTR	NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN	Homo sapiens zinc finger CCCH-type containing 12A (ZC3H12A), mRNA.	175					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ACACAGACATCACAGTGTTTG	0.622000														15			35		0	0	0.006230	0	0
RPH3AL	9501	broad.mit.edu	37	17	177264	177264	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:177264C>T	uc002fre.2	-	2	414	c.71G>A	c.(70-72)cGa>cAa	p.R24Q	RPH3AL_uc010vpy.2_Missense_Mutation_p.R24Q|RPH3AL_uc021tmx.1_Missense_Mutation_p.R24Q|RPH3AL_uc002frf.2_Missense_Mutation_p.R24Q|RPH3AL_uc010cjl.2_Missense_Mutation_p.R24Q	NM_006987	NP_008918	Q9UNE2	RPH3L_HUMAN	Homo sapiens rabphilin 3A-like (without C2 domains) (RPH3AL), transcript variant 1, mRNA.	24					exocytosis|intracellular protein transport	transport vesicle membrane	Rab GTPase binding|cytoskeletal protein binding|zinc ion binding			NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		TCACTTGGCTCGAAGGGCAAG	0.637000														31			11		0	0	0.001368	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151054897	151054898	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:151054897_151054898CC>TT	uc011eem.1	+	1	345_346	c.257_258CC>TT	c.(256-258)tcc>tTT	p.S86F	PLEKHG1_uc011eel.1_Missense_Mutation_p.S67F|PLEKHG1_uc003qny.1_Missense_Mutation_p.S27F|PLEKHG1_uc003qnz.2_Missense_Mutation_p.S27F	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA.	27					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		AGCCATGGTTCCTTCGGCAGCA	0.530000														53			50		0	0	0.004672	0	0
NWD1	284434	broad.mit.edu	37	19	16874721	16874722	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:16874721_16874722CG>AT	uc002neu.4	+	8	2638_2639	c.2216_2217CG>AT	c.(2215-2217)tcg>tAT	p.S739Y	NWD1_uc002net.4_Missense_Mutation_p.S604Y|NWD1_uc002nev.4_Missense_Mutation_p.S533Y|NWD1_uc021uqg.1_Missense_Mutation_p.S604Y	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	739							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTGCTTCACTCGGGCCGCCTGG	0.609000														56			5		0	0	0.004672	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149216176	149216176	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:149216176G>A	uc003lrc.3	+	7	2249	c.2158G>A	c.(2158-2160)Gag>Aag	p.E720K	PPARGC1B_uc003lrb.2_Missense_Mutation_p.E720K|PPARGC1B_uc003lrd.3_Missense_Mutation_p.E681K|PPARGC1B_uc021yfr.1_Missense_Mutation_p.E656K|PPARGC1B_uc003lre.1_Missense_Mutation_p.E699K|PPARGC1B_uc003lrf.3_Missense_Mutation_p.E699K	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B), transcript variant 1, mRNA.	720					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|RNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GGTTCACCTTGAGGACTGGCC	0.637000														26			14		0	0	0.002450	0	0
FHDC1	85462	broad.mit.edu	37	4	153864526	153864526	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:153864526C>T	uc003inf.2	+	0	392	c.317C>T	c.(316-318)cCg>cTg	p.P106L		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	106	FH2.				actin cytoskeleton organization		actin binding	p.P106L(2)	ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					AAAACTATTCCGGAGGAGCAA	0.502000														166			70		0	0	0.003610	0	0
CCDC135	84229	broad.mit.edu	37	16	57752309	57752309	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:57752309G>A	uc002emi.3	+	7	1217	c.1128G>A	c.(1126-1128)ctG>ctA	p.L376L	CCDC135_uc002emj.3_Silent_p.L376L|CCDC135_uc002emk.3_Silent_p.L311L	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	Homo sapiens coiled-coil domain containing 135 (CCDC135), mRNA.	376						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						ACATGCTCCTGGGGACTGATA	0.527000														5			74		0	0	0.003610	0	0
TMEM121	80757	broad.mit.edu	37	14	105995409	105995409	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:105995409T>C	uc001yrp.1	+	1	389	c.238T>C	c.(238-240)Ttc>Ctc	p.F80L	abParts_uc021ser.1_Intron|TMEM121_uc021ses.1_Missense_Mutation_p.F80L|BC033241_uc001yrr.3_5'Flank	NM_025268	NP_079544	Q9BTD3	TM121_HUMAN	Homo sapiens transmembrane protein 121 (TMEM121), mRNA.	80						integral to membrane				endometrium(2)|lung(1)	3		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.0959)|all cancers(159;0.235)		GATCCTGTGGTTCCTTTACAT	0.667000														10			9		0	0	0.000978	0	0
DNAH10	196385	broad.mit.edu	37	12	124398886	124398886	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:124398886G>A	uc001uft.4	+	59	10034	c.10009G>A	c.(10009-10011)Gac>Aac	p.D3337N		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	3337					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GTGGCTGAACGACCTGGATGA	0.602000														15			22		0	0	0.002780	0	0
OR2T4	127074	broad.mit.edu	37	1	248525164	248525164	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:248525164C>T	uc001ieh.1	+	0	282	c.282C>T	c.(280-282)ttC>ttT	p.F94F		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 4 (OR2T4), mRNA.	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGTACTTTTTCATCAGTCAAT	0.493000														136			54		0	0	0.003610	0	0
FAT4	79633	broad.mit.edu	37	4	126373533	126373533	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:126373533G>A	uc003ifj.4	+	8	11362	c.11362G>A	c.(11362-11364)Gag>Aag	p.E3788K	FAT4_uc011cgp.2_Missense_Mutation_p.E2086K|FAT4_uc003ifi.1_Missense_Mutation_p.E1266K	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3788					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AAGCATCAAAGAGATCCTTCT	0.463000														25			16		0	0	0.003163	0	0
UBC	7316	broad.mit.edu	37	17	21731348	21731348	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:21731348G>A	uc002gyy.3	+	1	775	c.650G>A	c.(649-651)cGa>cAa	p.R217Q				P0CG48	UBC_HUMAN	SubName: Full=Uncharacterized protein;	0	Ubiquitin-like 3.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.R217Q(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		AGAAGGAGTCGACCCTGCACC	0.547000														26			16		0	0	0.004007	0	0
NDUFB5	4711	broad.mit.edu	37	3	179341721	179341721	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:179341721G>A	uc003fkc.3	+	5	492	c.463G>A	c.(463-465)Gaa>Aaa	p.E155K	NDUFB5_uc021xhu.1_Missense_Mutation_p.G119E|NDUFB5_uc003fke.3_Missense_Mutation_p.E103K|NDUFB5_uc003fkd.3_Non-coding_Transcript	NM_002492	NP_002483	O43674	NDUB5_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa (NDUFB5), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	155					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(1)|lung(6)|skin(1)	8	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		NADH(DB00157)	AAAGGAGCTGGAAGTGCGAAA	0.393000														31			32		0	0	0.004878	0	0
CYP26A1	1592	broad.mit.edu	37	10	94836737	94836737	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:94836737G>A	uc001kil.2	+	6	1215	c.1170G>A	c.(1168-1170)aaG>aaA	p.K390K	CYP26A1_uc001kik.1_Silent_p.K321K	NM_000783	NP_000774	O43174	CP26A_HUMAN	Homo sapiens cytochrome P450, family 26, subfamily A, polypeptide 1 (CYP26A1), transcript variant 1, mRNA.	390					negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)				AGATTCCCAAGGGCTGGAATG	0.423000														25			29		0	0	0.002836	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102481641	102481642	+	Missense_Mutation	DNP	GG	TA	TA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:102481641_102481642GG>TA	uc001yks.2	+	34	7378_7379	c.7214_7215GG>TA	c.(7213-7215)ggg>gTA	p.G2405V	DYNC1H1_uc001ykt.1_5'UTR	NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	2405	AAA 2 (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GAGGATGAGGGGGAGGAGGCCG	0.599000														6			14		0	0	0.004672	0	0
LAMA2	3908	broad.mit.edu	37	6	129786341	129786341	+	Missense_Mutation	SNP	G	A	A	rs141476898		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:129786341G>A	uc021zfb.1	+	50	7312	c.7207G>A	c.(7207-7209)Gat>Aat	p.D2403N	LAMA2_uc003qbn.3_Missense_Mutation_p.D2401N|LAMA2_uc003qbo.3_Missense_Mutation_p.D2401N	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	2403	Laminin G-like 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AGTCAGTTACGATCTGGGCTC	0.398000														4			4		0	0	0.000248	0	0
WWC1	23286	broad.mit.edu	37	5	167882443	167882444	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:167882443_167882444CC>TT	uc003lzu.3	+	18	2834_2835	c.2741_2742CC>TT	c.(2740-2742)tcc>tTT	p.S914F	WWC1_uc003lzv.3_Missense_Mutation_p.S914F|WWC1_uc011den.2_Missense_Mutation_p.S914F|WWC1_uc003lzw.3_Missense_Mutation_p.S713F|WWC1_uc010jjf.1_Missense_Mutation_p.S186F	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 3, mRNA.	914	Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GGCACCCCGTCCCAGGGGCCAT	0.634000														53			42		0	0	0.004672	0	0
KCNC3	3748	broad.mit.edu	37	19	50826961	50826962	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:50826961_50826962GG>AA	uc002pru.1	-	1	1543_1544	c.1248_1249CC>TT	c.(1246-1251)gtccgc>gtTTgc	p.R417C	KCNC3_uc002prt.1_Missense_Mutation_p.R53C	NM_004977	NP_004968	Q14003	KCNC3_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 3 (KCNC3), mRNA.	417					cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		CGGACGAAGCGGACCACCCGCA	0.653000														12			13		0	0	0.004672	0	0
TNFRSF21	27242	broad.mit.edu	37	6	47253685	47253685	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:47253685G>A	uc003oyv.3	-	1	1176	c.743C>T	c.(742-744)cCc>cTc	p.P248L		NM_014452	NP_055267	O75509	TNR21_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 21 (TNFRSF21), mRNA.	248					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			GTTACCTTTGGGAACATAAGT	0.488000														18			8		0	0	0.000673	0	0
MUC16	94025	broad.mit.edu	37	19	9082466	9082466	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:9082466G>A	uc002mkp.3	-	0	9553	c.9349C>T	c.(9349-9351)Cca>Tca	p.P3117S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3118	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						GTCTCAGATGGTGTGAAGGTT	0.478000														73			62		0	0	0.003610	0	0
MYO16	23026	broad.mit.edu	37	13	109704685	109704685	+	Silent	SNP	G	A	A	rs144060419	byFrequency	TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:109704685G>A	uc010agk.2	+	24	3532	c.2910G>A	c.(2908-2910)tcG>tcA	p.S970S	MYO16_uc001vqt.1_Silent_p.S948S|MYO16_uc001vqu.1_Silent_p.S748S|MYO16_uc010tjh.1_Silent_p.S460S	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	948	Myosin head-like 2.				cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	ATP binding|actin filament binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TGTTCCAGTCGAAATTGTCAC	0.363000														12			12		0	0	0.004990	0	0
CRYBB1	1414	broad.mit.edu	37	22	27012187	27012187	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:27012187G>A	uc003acy.1	-	1	167	c.97C>T	c.(97-99)Cct>Tct	p.P33S		NM_001887	NP_001878	P53674	CRBB1_HUMAN	Homo sapiens crystallin, beta B1 (CRYBB1), mRNA.	33	N-terminal arm.				visual perception		structural constituent of eye lens	p.P33S(2)		breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						CCGGGACTAGGGGATGTTCCT	0.652000														44			30		0	0	0.002096	0	0
LILRA4	23547	broad.mit.edu	37	19	54848308	54848308	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:54848308G>A	uc002qfj.3	-	5	1116	c.1059C>T	c.(1057-1059)ttC>ttT	p.F353F	LILRA4_uc002qfi.3_Silent_p.F287F	NM_012276	NP_036408	P59901	LIRA4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 (LILRA4), mRNA.	353	Ig-like C2-type 4.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		TGGTCAGAAGGAAAGTGAACA	0.582000														47			36		0	0	0.004289	0	0
KIAA1109	84162	broad.mit.edu	37	4	123274173	123274173	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:123274173C>T	uc003ieh.3	+	78	14009	c.13964C>T	c.(13963-13965)tCa>tTa	p.S4655L	KIAA1109_uc003iem.3_Missense_Mutation_p.S1011L	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	4655					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TTTGGAGGATCAATGAGCTTA	0.388000														29			32		0	0	0.003271	0	0
COL4A1	1282	broad.mit.edu	37	13	110835408	110835408	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:110835408C>A	uc001vqw.4	-	27	2149	c.2027G>T	c.(2026-2028)gGc>gTc	p.G676V		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	676	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TCCTGGCAGGCCTGGCCTTCC	0.622000														18			9		0.000673444	0.000928576	0.000673	1	0
P2RY8	286530	broad.mit.edu	37	X	1585081	1585082	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:1585081_1585082CC>TT	uc022brv.1	-	0	370_371	c.370_371GG>AA	c.(370-372)ggg>AAg	p.G124K	CRLF2_uc022brt.1_Intron|P2RY8_uc004cpz.2_Missense_Mutation_p.G124K	NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 8 (P2RY8), mRNA.	124						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GTACAGGACCCCCAGGAAGCGC	0.639000			T	CRLF2	"""B-ALL, Downs associated ALL"""									10			6		0	0	0.004672	0	0
FILIP1	27145	broad.mit.edu	37	6	76022531	76022531	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:76022531G>A	uc010kbe.3	-	5	3556	c.3026C>T	c.(3025-3027)cCt>cTt	p.P1009L	FILIP1_uc003phy.1_Missense_Mutation_p.P1006L|FILIP1_uc003phz.3_Missense_Mutation_p.P907L|FILIP1_uc003pia.3_Missense_Mutation_p.P1006L|FILIP1_uc003pib.1_Missense_Mutation_p.P758L	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	1006										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TATCTGAATAGGGGATGTGGG	0.512000														41			33		0	0	0.003271	0	0
MYB	4602	broad.mit.edu	37	6	135513576	135513576	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:135513576C>T	uc003qfh.3	+	5	841	c.642C>T	c.(640-642)ttC>ttT	p.F214F	MYB_uc003qfp.3_Non-coding_Transcript|MYB_uc003qfn.3_Non-coding_Transcript|MYB_uc003qfk.3_Non-coding_Transcript|MYB_uc003qfc.3_Silent_p.F214F|MYB_uc003qfr.3_Non-coding_Transcript|MYB_uc003qft.3_Non-coding_Transcript|MYB_uc003qfs.3_5'UTR|MYB_uc003qfw.3_Silent_p.F26F|MYB_uc010kgi.3_Silent_p.F214F|MYB_uc003qfq.3_Silent_p.F214F|MYB_uc010kgj.3_Silent_p.F214F|MYB_uc003qfo.3_Silent_p.F214F|MYB_uc003qfu.3_Silent_p.F214F|MYB_uc003qfy.3_Non-coding_Transcript|MYB_uc003qfl.3_Non-coding_Transcript|MYB_uc003qfv.3_Non-coding_Transcript|MYB_uc003qfz.3_Non-coding_Transcript|MYB_uc003qfx.3_Non-coding_Transcript|MYB_uc003qga.3_Non-coding_Transcript|MYB_uc003qgb.3_Non-coding_Transcript|MYB_uc010kgk.3_Non-coding_Transcript|MYB_uc003qfd.3_Non-coding_Transcript|MYB_uc003qfi.3_Silent_p.F214F|MYB_uc003qfe.3_Non-coding_Transcript|MYB_uc003qfg.3_Non-coding_Transcript|MYB_uc003qff.3_Non-coding_Transcript|MYB_uc003qfj.3_Non-coding_Transcript|MYB_uc003qfm.3_Non-coding_Transcript|MYB_uc003qgc.3_Non-coding_Transcript|MYB_uc003qfb.1_Silent_p.F214F|MYB_uc003qgd.1_Silent_p.F26F	NM_001130173	NP_001123645	P10242	MYB_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian) (MYB), transcript variant 1, mRNA.	214					blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of T-helper cell differentiation|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		CCACAAGCTTCCAGAAGAACA	0.512000			T	NFIB	adenoid cystic carcinoma									46			51		0	0	0.003610	0	0
SLC9A1	6548	broad.mit.edu	37	1	27432478	27432478	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:27432478G>A	uc001bnm.3	-	4	2009	c.1383C>T	c.(1381-1383)atC>atT	p.I461I	SLC9A1_uc001bnl.3_5'Flank|SLC9A1_uc010ofk.2_Silent_p.I122I|SLC9A1_uc001bnn.2_Silent_p.I461I	NM_003047	NP_003038	P19634	SL9A1_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 1 (SLC9A1), mRNA.	461					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	GAGAGAAGGCGATGGCCCCTC	0.567000														21			22		0	0	0.001882	0	0
ZFHX3	463	broad.mit.edu	37	16	72827165	72827165	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:72827165G>A	uc002fck.3	-	8	10089	c.9416C>T	c.(9415-9417)cCa>cTa	p.P3139L	ZFHX3_uc002fcl.3_Missense_Mutation_p.P2225L	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	3139					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TGTGTTGGATGGAGTAAAGCC	0.547000														4			43		0	0	0.003610	0	0
TRIM71	131405	broad.mit.edu	37	3	32932694	32932694	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:32932694G>A	uc003cff.3	+	3	2061	c.1998G>A	c.(1996-1998)agG>agA	p.R666R		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	Homo sapiens tripartite motif containing 71 (TRIM71), mRNA.	666					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCTCACGCAGGATCGTGGTGG	0.607000														12			21		0	0	0.003330	0	0
OR6B2	389090	broad.mit.edu	37	2	240969586	240969586	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:240969586G>A	uc010zoc.2	-	0	261	c.261C>T	c.(259-261)ctC>ctT	p.L87L	OR6B2_uc002vyr.3_Silent_p.L87L	NM_001005853	NP_001005853	Q6IFH4	OR6B2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 2 (OR6B2), mRNA.	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		GTTTCTGCTGGAGGAGGAAGC	0.567000														23			21		0	0	0.001512	0	0
KCNE2	9992	broad.mit.edu	37	21	35743017	35743017	+	Silent	SNP	C	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr21:35743017C>A	uc021wis.1	+	0	240	c.240C>A	c.(238-240)tcC>tcA	p.S80S	KCNE2_uc002ytt.1_Silent_p.S80S	NM_172201	NP_751951	Q9Y6J6	KCNE2_HUMAN	Homo sapiens potassium voltage-gated channel, Isk-related family, member 2 (KCNE2), mRNA.	80					blood circulation|muscle contraction|regulation of heart contraction	lysosome|voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(1)|large_intestine(1)	2						GGGAACACTCCAATGACCCCT	0.463000														335			10		0.00621372	0.00854359	0.006214	1	0
BDKRB2	624	broad.mit.edu	37	14	96707441	96707441	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:96707441T>G	uc010avm.1	+	2	972	c.776T>G	c.(775-777)tTc>tGc	p.F259C	BDKRB2_uc010avl.2_3'UTR|BDKRB2_uc010twu.1_Missense_Mutation_p.F232C|BDKRB2_uc001yfg.2_Missense_Mutation_p.F259C	NM_000623	NP_000614	P30411	BKRB2_HUMAN	Homo sapiens bradykinin receptor B2 (BDKRB2), mRNA.	259					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		ATGCAGAAGTTCAAGGAGATC	0.557000														22			6		0	0	0.001984	0	0
CTNND2	1501	broad.mit.edu	37	5	11364854	11364854	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:11364854C>T	uc003jfa.1	-	7	1471	c.1326G>A	c.(1324-1326)ggG>ggA	p.G442G	CTNND2_uc010itt.2_Silent_p.G351G|CTNND2_uc011cmy.1_Silent_p.G105G|CTNND2_uc011cmz.1_Silent_p.G9G|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Silent_p.G9G	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	442					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GCAGAGGGTCCCCCTGGCTCT	0.632000														22			19		0	0	0.001882	0	0
SLC45A1	50651	broad.mit.edu	37	1	8384550	8384550	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:8384550A>C	uc001apb.3	+	0	161	c.161A>C	c.(160-162)aAg>aCg	p.K54T		NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN	Homo sapiens solute carrier family 45, member 1 (SLC45A1), mRNA.	54					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		AAGAGGAGGAAGTGCATTCGT	0.657000														19			45		0	0	0.002522	0	0
SLC25A11	8402	broad.mit.edu	37	17	4841674	4841674	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:4841674G>A	uc002fzo.2	-	4	854	c.597C>T	c.(595-597)ctC>ctT	p.L199L	SLC25A11_uc002fzp.2_Silent_p.L195L|SLC25A11_uc021tod.1_Silent_p.L188L|SLC25A11_uc021toe.1_Silent_p.L148L|RNF167_uc002fzs.3_5'Flank|RNF167_uc002fzw.2_5'Flank|RNF167_uc002fzu.3_5'Flank	NM_003562	NP_003553	Q02978	M2OM_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11 (SLC25A11), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	199					gluconeogenesis	integral to plasma membrane|mitochondrial inner membrane	oxoglutarate:malate antiporter activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	10						AGTAGGAGGCGAGCTGGGCAG	0.607000														31			13		0	0	0.002450	0	0
SENP8	123228	broad.mit.edu	37	15	72432346	72432346	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:72432346C>T	uc021spq.1	+	1	715	c.382C>T	c.(382-384)Cac>Tac	p.H128Y	SENP8_uc021spr.1_Missense_Mutation_p.H128Y|SENP8_uc021sps.1_Missense_Mutation_p.H128Y|SENP8_uc021spt.1_Missense_Mutation_p.H128Y|SENP8_uc002atp.3_Missense_Mutation_p.H128Y|SENP8_uc021spu.1_Missense_Mutation_p.H128Y	NM_001166340	NP_660205	Q96LD8	SENP8_HUMAN	Homo sapiens SUMO/sentrin specific peptidase family member 8 (SENP8), transcript variant 1, mRNA.	128	Protease.				proteolysis		cysteine-type peptidase activity|protein binding			breast(1)|kidney(2)|lung(1)|ovary(1)|skin(1)	6						CAACTCAGTTCACGCAAAGCA	0.463000														1			27		0	0	0.003954	0	0
ZRANB1	54764	broad.mit.edu	37	10	126672076	126672076	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:126672076C>T	uc010qug.2	+	8	1909	c.1805C>T	c.(1804-1806)cCg>cTg	p.P602L	ZRANB1_uc001lic.3_Missense_Mutation_p.P576L	NM_017580	NP_060050	Q9UGI0	ZRAN1_HUMAN	Homo sapiens zinc finger, RAN-binding domain containing 1 (ZRANB1), mRNA.	576	TRAF-binding.			A -> P (in Ref. 2; BAG64010).	Wnt receptor signaling pathway|positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		TGGAAAAGTCCGATTGCTCTG	0.473000														42			29		0	0	0.004289	0	0
WNT7A	7476	broad.mit.edu	37	3	13916592	13916592	+	Silent	SNP	C	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:13916592C>G	uc003bye.1	-	1	455	c.150G>C	c.(148-150)gcG>gcC	p.A50A		NM_004625	NP_004616	O00755	WNT7A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 7A (WNT7A), mRNA.	50					Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway|activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of JNK cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						TCTGGCAGATCGCCCGCTGTC	0.592000														14			15		0	0	0.004007	0	0
PSG11	5680	broad.mit.edu	37	19	43528946	43528946	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:43528946G>A	uc002ovm.1	-	1	434	c.327C>T	c.(325-327)atC>atT	p.I109I	PSG4_uc010xwk.1_Intron|PSG11_uc002ovp.1_Intron|PSG11_uc002ovo.1_Intron	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 11 (PSG11), transcript variant 1, mRNA.	109	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				TGACATTCTGGATCAGCAGGG	0.433000														129			93		0	0	0.003610	0	0
GAL3ST2	64090	broad.mit.edu	37	2	242742834	242742834	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:242742834C>T	uc002wcj.1	+	3	581	c.450C>T	c.(448-450)tcC>tcT	p.S150S		NM_022134	NP_071417	Q9H3Q3	G3ST2_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 2 (GAL3ST2), mRNA.	150					biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TGGAGTCCTCCTTCATCTACT	0.632000														5			13		0	0	0.003163	0	0
JUP	3728	broad.mit.edu	37	17	39921256	39921256	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:39921256C>T	uc002hxq.2	-	5	1250	c.973G>A	c.(973-975)Gaa>Aaa	p.E325K	JUP_uc010wfs.2_Intron|JUP_uc002hxr.2_Missense_Mutation_p.E325K|JUP_uc002hxs.2_Missense_Mutation_p.E325K	NM_021991	NP_068831	P14923	PLAK_HUMAN	Homo sapiens junction plakoglobin (JUP), transcript variant 2, mRNA.	325					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of Wnt receptor signaling pathway involved in heart development|negative regulation of heart induction by canonical Wnt receptor signaling pathway|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	Axin-APC-beta-catenin-GSK3B complex|Z disc|actin cytoskeleton|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|zonula adherens	RPTP-like protein binding|alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		AGCAGCTTTTCATAACTGTAG	0.542000														29			32		0	0	0.001786	0	0
MYH1	4619	broad.mit.edu	37	17	10401113	10401113	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:10401113C>T	uc002gmo.3	-	30	4397	c.4303G>A	c.(4303-4305)Gat>Aat	p.D1435N	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1435						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.D1435N(2)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTCTCAACATCAATCATGAGG	0.458000														25			31		0	0	0.003755	0	0
ZNF479	90827	broad.mit.edu	37	7	57188147	57188147	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:57188147G>A	uc010kzo.3	-	4	1246	c.975C>T	c.(973-975)tgC>tgT	p.C325C		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	Homo sapiens zinc finger protein 479 (ZNF479), mRNA.	325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C325W(4)|p.P324H(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			CCTCACACCTGCAGGGTTTCT	0.453000														0			6		0	0	0.001855	0	0
DMBT1	1755	broad.mit.edu	37	10	124345695	124345695	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:124345695G>A	uc001lgk.1	+	15	1685	c.1579G>A	c.(1579-1581)Gat>Aat	p.D527N	DMBT1_uc001lgl.1_Missense_Mutation_p.D517N|DMBT1_uc001lgm.1_Intron|DMBT1_uc021qaf.1_Missense_Mutation_p.D527N|DMBT1_uc021qag.1_Missense_Mutation_p.D517N|DMBT1_uc021qah.1_Intron|DMBT1_uc009xzz.1_Missense_Mutation_p.D527N|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Intron	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	527	SRCR 4.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	p.D527Y(4)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGACACCAATGATGCCAATGT	0.612000														160			137		0	0	0.003610	0	0
CACNA1C	775	broad.mit.edu	37	12	2690825	2690825	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:2690825C>T	uc009zdu.1	+	13	2278	c.1965C>T	c.(1963-1965)ctC>ctT	p.L655L	CACNA1C_uc001qkc.2_Silent_p.L655L|CACNA1C_uc001qjz.2_Silent_p.L655L|CACNA1C_uc001qkd.2_Silent_p.L655L|CACNA1C_uc001qke.2_Silent_p.L655L|CACNA1C_uc001qkf.2_Silent_p.L655L|CACNA1C_uc009zdw.1_Silent_p.L655L|CACNA1C_uc001qkg.2_Silent_p.L655L|CACNA1C_uc001qkh.2_Silent_p.L655L|CACNA1C_uc001qkl.2_Silent_p.L655L|CACNA1C_uc001qkj.2_Silent_p.L655L|CACNA1C_uc001qkk.2_Silent_p.L655L|CACNA1C_uc001qkn.2_Silent_p.L655L|CACNA1C_uc001qkm.2_Silent_p.L655L|CACNA1C_uc001qko.2_Silent_p.L655L|CACNA1C_uc001qkp.2_Silent_p.L655L|CACNA1C_uc001qkq.2_Silent_p.L655L|CACNA1C_uc001qku.2_Silent_p.L655L|CACNA1C_uc001qkr.2_Silent_p.L655L|CACNA1C_uc001qks.2_Silent_p.L655L|CACNA1C_uc001qkt.2_Silent_p.L655L|CACNA1C_uc009zdv.1_Silent_p.L652L|CACNA1C_uc001qkb.2_Silent_p.L655L|CACNA1C_uc001qka.1_Silent_p.L190L|CACNA1C_uc001qki.1_Silent_p.L391L	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	655	Poly-Leu.				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CCTCcctgctccttctcctct	0.547000														5			3		0	0	0.004672	0	0
RAG2	5897	broad.mit.edu	37	11	36614448	36614448	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:36614448T>A	uc021qge.1	-	0	1271	c.1271A>T	c.(1270-1272)gAt>gTt	p.D424V	RAG1_uc001mwt.3_Intron|RAG2_uc021qgc.1_Missense_Mutation_p.D424V|RAG2_uc021qgd.1_Missense_Mutation_p.D424V|RAG2_uc001mwv.4_Missense_Mutation_p.D424V|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank|C11orf74_uc010rfd.2_5'Flank	NM_001243786	NP_001230715	P55895	RAG2_HUMAN	Homo sapiens recombination activating gene 2 (RAG2), transcript variant 4, mRNA.	424					T cell differentiation in thymus|V(D)J recombination|chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins	nucleus	DNA binding|chromatin binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				GATATCCACATCACAAGTAGG	0.443000									Familial Hemophagocytic Lymphohistiocytosis					40			12		0	0	0.001368	0	0
LRRC37A3	374819	broad.mit.edu	37	17	62856737	62856737	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:62856737T>A	uc002jey.2	-	10	4143	c.3527A>T	c.(3526-3528)aAa>aTa	p.K1176I	LRRC37A3_uc010wqg.1_Missense_Mutation_p.K294I|LRRC37A3_uc002jex.1_Missense_Mutation_p.K153I|LRRC37A3_uc010wqf.1_Missense_Mutation_p.K214I|LRRC37A3_uc010dek.1_Missense_Mutation_p.K182I|DQ578599_uc021ubv.1_5'Flank	NM_199340	NP_955372	O60309	L37A3_HUMAN	Homo sapiens leucine rich repeat containing 37, member A3 (LRRC37A3), mRNA.	1176						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GAAGTGCCTTTTCTGGATGCT	0.517000														75			55		0	0	0.003610	0	0
OR2C1	4993	broad.mit.edu	37	16	3406126	3406126	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:3406126C>T	uc002cuw.1	+	0	238	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_012368	NP_036500	O95371	OR2C1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily C, member 1 (OR2C1), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TGTACTTCTTCCTCAGCAACC	0.517000														65			57		0	0	0.003610	0	0
MYH13	8735	broad.mit.edu	37	17	10258090	10258090	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:10258090C>T	uc002gmk.1	-	10	1002	c.912G>A	c.(910-912)ctG>ctA	p.L304L		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	304	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TGGTGGAGATCAGAAGCAGGT	0.468000														18			27		0	0	0.007291	0	0
CLEC14A	161198	broad.mit.edu	37	14	38724414	38724414	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:38724414C>T	uc001wum.1	-	0	1161	c.814G>A	c.(814-816)Gaa>Aaa	p.E272K		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.	272	EGF-like.					integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		GTAGCACATTCGCAGGCAAAG	0.657000														43			51		0	0	0.003610	0	0
OR2L1P	26247	broad.mit.edu	37	1	248153978	248153978	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:248153978A>G	uc001idv.1	+	0	410	c.166A>G	c.(166-168)Aaa>Gaa	p.K56E	OR2L13_uc001ids.3_Intron					Homo sapiens olfactory receptor, family 2, subfamily L, member 1 pseudogene (OR2L1P), non-coding RNA.									p.T56I(1)		lung(11)	11						CCGTATGAGAAAAAGAGTGTG	0.468000														8			21		0	0	0.002780	0	0
LMO7	4008	broad.mit.edu	37	13	76414233	76414233	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:76414233C>T	uc021rkq.1	+	20	3799	c.3464C>T	c.(3463-3465)tCg>tTg	p.S1155L	LMO7_uc010thv.2_Missense_Mutation_p.S873L|LMO7_uc001vjt.1_Missense_Mutation_p.S821L|LMO7_uc001vjv.3_Missense_Mutation_p.S922L|LMO7_uc010thw.2_Missense_Mutation_p.S799L|LMO7_uc001vjw.1_Missense_Mutation_p.S828L	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	1207						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	p.R1154*(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AGCTCTGATTCGGTGGTTCCT	0.373000														46			48		0	0	0.003610	0	0
GNPTAB	79158	broad.mit.edu	37	12	102158584	102158584	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:102158584G>A	uc001tit.3	-	12	2303	c.2111C>T	c.(2110-2112)cCa>cTa	p.P704L		NM_024312	NP_077288	Q3T906	GNPTA_HUMAN	Homo sapiens N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits (GNPTAB), mRNA.	704					cell differentiation	Golgi membrane|integral to membrane|nucleus	UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity|metal ion binding|transcription factor binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						GGCGTCTTTTGGAAGGAGTGA	0.423000														33			18		0	0	0.001882	0	0
LRRC4B	94030	broad.mit.edu	37	19	51022432	51022433	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:51022432_51022433GG>AA	uc002pss.3	-	2	674_675	c.537_538CC>TT	c.(535-540)aaccgc>aaTTgc	p.R180C		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	Homo sapiens leucine rich repeat containing 4B (LRRC4B), mRNA.	180						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GAGGGCACGCGGTTGAAGGCGT	0.658000														29			20		0	0	0.004672	0	0
CHRNB3	1142	broad.mit.edu	37	8	42552732	42552732	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:42552732C>T	uc003xpi.1	+	0	171	c.43C>T	c.(43-45)Cct>Tct	p.P15S		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 3 (CHRNB3), mRNA.	15					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CCTTGGCATCCCTTCCTCAGG	0.388000														8			18		0	0	0.001882	0	0
DDX11	1663	broad.mit.edu	37	12	31255196	31255196	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:31255196G>A	uc001rjt.1	+	21	2473	c.2222G>A	c.(2221-2223)aGc>aAc	p.S741N	DDX11_uc001rjr.1_Missense_Mutation_p.S741N|DDX11_uc001rjs.1_Missense_Mutation_p.S691N|DDX11_uc001rju.1_Missense_Mutation_p.S413N|DDX11_uc001rjv.1_Missense_Mutation_p.S741N|DDX11_uc001rjw.1_Missense_Mutation_p.S715N|DDX11_uc009zjn.1_Non-coding_Transcript|DDX11_uc009zjo.1_5'Flank	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN	Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (DDX11), transcript variant 3, mRNA.	741					G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|RNA binding|protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GAACCTAAGAGCGCACACCAG	0.577000										Multiple Myeloma(12;0.14)				21			33		0	0	0.006999	0	0
ERLIN1	10613	broad.mit.edu	37	10	101943537	101943537	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:101943537G>A	uc001kqn.4	-	1	522	c.171C>T	c.(169-171)ttC>ttT	p.F57F	ERLIN1_uc001kqo.4_Silent_p.F57F|ERLIN1_uc010qpm.2_Intron	NM_006459	NP_006450	O75477	ERLN1_HUMAN	Homo sapiens ER lipid raft associated 1 (ERLIN1), mRNA.	55					ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding						Colorectal(252;0.234)		Epithelial(162;3.85e-10)|all cancers(201;3.25e-08)		ACGTAGTAATGAAAGGCAACA	0.433000														34			36		0	0	0.006999	0	0
CFTR	1080	broad.mit.edu	37	7	117175322	117175322	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:117175322C>T	uc003vjd.3	+	5	732	c.600C>T	c.(598-600)ttC>ttT	p.F200F	CFTR_uc011knq.2_5'UTR	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	200	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TGGCACATTTCGTGTGGATCG	0.453000									Cystic Fibrosis					93			72		0	0	0.003610	0	0
IMPG1	3617	broad.mit.edu	37	6	76751689	76751689	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:76751689G>A	uc003pik.1	-	1	352	c.222C>T	c.(220-222)ttC>ttT	p.F74F		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	74					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CCCCCGTTGGGAAAAATGCGG	0.368000														23			33		0	0	0.004289	0	0
OC90	729330	broad.mit.edu	37	8	133047064	133047064	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:133047064C>T	uc003ytg.2	-	8	697	c.697G>A	c.(697-699)Gaa>Aaa	p.E233K	OC90_uc011lix.1_Missense_Mutation_p.E233K	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	Homo sapiens otoconin 90 (OC90), mRNA.	249					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			CCCACTCCTTCCTGATCGTGG	0.562000														43			27		0	0	0.001786	0	0
AMTN	401138	broad.mit.edu	37	4	71397009	71397009	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:71397009C>T	uc003hfk.1	+	7	700	c.611C>T	c.(610-612)tCa>tTa	p.S204L	AMTN_uc010ihy.1_Missense_Mutation_p.S203L	NM_212557	NP_997722	Q6UX39	AMTN_HUMAN	Homo sapiens amelotin (AMTN), mRNA.	204					biomineral tissue development|cell adhesion|odontogenesis of dentine-containing tooth	basal lamina|cell-cell junction				NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1)	19			Lung(101;0.235)			ACCACAGAATCAGCAAATGGT	0.493000														20			9		0	0	0.006214	0	0
CD74	972	broad.mit.edu	37	5	149782794	149782795	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:149782794_149782795CC>TT	uc003lsc.3	-	6	893_894	c.706_707GG>AA	c.(706-708)ggc>AAc	p.G236N	CD74_uc003lsd.3_Intron|CD74_uc003lse.3_Intron	NM_001025159	NP_001020330	P04233	HG2A_HUMAN	Homo sapiens CD74 molecule, major histocompatibility complex, class II invariant chain (CD74), transcript variant 1, mRNA.	236	Thyroglobulin type-1.				antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation	Golgi apparatus|endoplasmic reticulum membrane|integral to membrane|lysosome|receptor complex	MHC class II protein binding|beta-amyloid binding|cytokine receptor activity|identical protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGATAGTTGCCGTTCTCGTCG	0.599000			T	ROS1	NSCLC									79			42		0	0	0.004672	0	0
PREX2	80243	broad.mit.edu	37	8	69002860	69002860	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:69002860C>T	uc003xxv.1	+	19	2187	c.2160C>T	c.(2158-2160)atC>atT	p.I720I	PREX2_uc003xxu.1_Silent_p.I720I|PREX2_uc011lez.1_Silent_p.I655I	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	720	PDZ 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AGTGCATTATCAAGGTGAATG	0.443000														27			22		0	0	0.003954	0	0
DZIP1	22873	broad.mit.edu	37	13	96263699	96263699	+	Splice_Site	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:96263699C>T	uc001vmk.3	-	12	2215	c.1363_splice	c.e12+1	p.G455_splice	DZIP1_uc001vml.3_Splice_Site_p.V455_splice	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	Homo sapiens DAZ interacting protein 1 (DZIP1), transcript variant 2, mRNA.	455					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			ATCCACTTACCTTTGGGTTCA	0.438000														65			39		0	0	0.003610	0	0
KRTAP10-2	386679	broad.mit.edu	37	21	45970719	45970719	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr21:45970719G>A	uc002zfi.1	-	0	670	c.623C>T	c.(622-624)cCg>cTg	p.P208L	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198693	NP_941966	P60368	KR102_HUMAN	Homo sapiens keratin associated protein 10-2 (KRTAP10-2), mRNA.	208	22 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(4)|skin(1)	6						CTGGCAGCACGGAGAGGAAGC	0.637000														69			46		0	0	0.003610	0	0
FAT4	79633	broad.mit.edu	37	4	126239487	126239487	+	Silent	SNP	T	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:126239487T>C	uc003ifj.4	+	0	1921	c.1921T>C	c.(1921-1923)Ttg>Ctg	p.L641L		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	641	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GTCTGGGAGGTTGAGTACTAT	0.562000														20			27		0	0	0.004656	0	0
PTPRN2	5799	broad.mit.edu	37	7	157926530	157926531	+	Missense_Mutation	DNP	GG	AC	AC	rs140538499	byFrequency	TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:157926530_157926531GG>AC	uc003wno.3	-	8	1515_1516	c.1394_1395CC>GT	c.(1393-1395)ccc>cGT	p.P465R	PTPRN2_uc003wnp.3_Missense_Mutation_p.P448R|PTPRN2_uc003wnq.3_Missense_Mutation_p.P465R|PTPRN2_uc003wnr.3_Missense_Mutation_p.P427R|PTPRN2_uc011kwa.2_Missense_Mutation_p.P488R	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	465						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CAGCGGCCCCGGGCTCCGAATG	0.634000														33			30		0	0	0.004672	0	0
ALKBH4	54784	broad.mit.edu	37	7	102098210	102098210	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:102098210C>T	uc003uzl.3	-	2	578	c.540G>A	c.(538-540)ctG>ctA	p.L180L	ALKBH4_uc003uzm.3_Silent_p.L107L	NM_017621	NP_060091	Q9NXW9	ALKB4_HUMAN	Homo sapiens alkB, alkylation repair homolog 4 (E. coli) (ALKBH4), mRNA.	180						cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(1)|lung(5)|skin(2)	8						TGAGGCTGACCAGCCGCTCCC	0.721000														10			5		0	0	0.000602	0	0
TTI1	9675	broad.mit.edu	37	20	36640256	36640256	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:36640256G>A	uc002xhl.3	-	2	2172	c.1963C>T	c.(1963-1965)Cca>Tca	p.P655S	TTI1_uc002xhm.3_Missense_Mutation_p.P655S	NM_014657	NP_055472	O43156	TTI1_HUMAN	Homo sapiens TELO2 interacting protein 1 (TTI1), mRNA.	655							binding	p.P655Q(1)|p.P655L(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						TCCAGTACTGGATAAAGGGCT	0.483000														37			45		0	0	0.003610	0	0
DOCK3	1795	broad.mit.edu	37	3	51297656	51297656	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:51297656G>A	uc011bds.2	+	22	2277	c.2254G>A	c.(2254-2256)Gaa>Aaa	p.E752K		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	752						cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TTGTGGAATGGAAGAGGAACA	0.453000														7			5		0	0	0.000602	0	0
CACNA1F	778	broad.mit.edu	37	X	49071939	49071940	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:49071939_49071940CC>TT	uc004dnb.3	-	27	3395_3396	c.3333_3334GG>AA	c.(3331-3336)gtggag>gtAAag	p.E1112K	CACNA1F_uc010nip.3_Missense_Mutation_p.E1101K	NM_005183	NP_005174	O60840	CAC1F_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), mRNA.	1112	Dihydropyridine binding (By similarity).				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	ACTGAGATCTCCACACGGTAAT	0.520000														0			12		0	0	0.004672	0	0
DNM1L	10059	broad.mit.edu	37	12	32893025	32893025	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:32893025G>A	uc010skh.1	+	17	1935	c.1933G>A	c.(1933-1935)Gat>Aat	p.D645N	DNM1L_uc001rld.2_Missense_Mutation_p.D579N|DNM1L_uc001rle.2_Missense_Mutation_p.D553N|DNM1L_uc001rlf.2_Missense_Mutation_p.D542N|DNM1L_uc001rlg.2_Missense_Mutation_p.D634N|DNM1L_uc001rlh.2_Missense_Mutation_p.D621N|DNM1L_uc010ski.1_Missense_Mutation_p.D376N	NM_012062	NP_036192	O00429	DNM1L_HUMAN	Homo sapiens dynamin 1-like (DNM1L), transcript variant 1, mRNA.	579	GED.|Interaction with GSK3B.				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TGGGGTTGGAGATGGTGTTCA	0.383000														10			20		0	0	0.001523	0	0
CACNG3	10368	broad.mit.edu	37	16	24372924	24372924	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:24372924C>T	uc002dmf.3	+	3	1890	c.688C>T	c.(688-690)Cga>Tga	p.R230*		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	230					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CTACAGGTATCGATTCCGGAG	0.537000														17			23		0	0	0.002780	0	0
PLCH1	23007	broad.mit.edu	37	3	155199389	155199389	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:155199389G>A	uc021xge.1	-	22	4727	c.4450C>T	c.(4450-4452)Ctg>Ttg	p.L1484L	PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Silent_p.L1446L	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	1484					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GGCAGTTTCAGAGCAGGCAAA	0.463000														28			14		0	0	0.001855	0	0
QSOX1	5768	broad.mit.edu	37	1	180165467	180165467	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:180165467C>G	uc001gnz.3	+	11	1614	c.1539C>G	c.(1537-1539)caC>caG	p.H513Q	QSOX1_uc001gny.3_Missense_Mutation_p.H513Q|FLJ23867_uc001god.4_5'Flank	NM_002826	NP_002817	O00391	QSOX1_HUMAN	Homo sapiens quiescin Q6 sulfhydryl oxidase 1 (QSOX1), transcript variant 1, mRNA.	513					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CTGCCTGCCACAATGAACGCC	0.607000														104			33		0	0	0.004289	0	0
BIVM-ERCC5	100533467	broad.mit.edu	37	13	103459816	103459816	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:103459816T>C	uc001vpu.2	+	0	321	c.199T>C	c.(199-201)Tat>Cat	p.Y67H	BIVM-ERCC5_uc001vps.3_Missense_Mutation_p.Y67H|BIVM-ERCC5_uc010agc.3_Intron|BIVM-ERCC5_uc001vpt.3_Missense_Mutation_p.Y67H	NM_001204425	NP_001191354	Q59FZ7	Q59FZ7_HUMAN	Homo sapiens BIVM-ERCC5 readthrough (BIVM-ERCC5), mRNA.	38					nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding										GGAAAAAATTTATGCCATCTG	0.468000														33			41		0	0	0.003214	0	0
NBPF1	55672	broad.mit.edu	37	1	16893773	16893773	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:16893773G>A	uc009vos.1	-	24	3628	c.2740C>T	c.(2740-2742)Cct>Tct	p.P914S	NBPF1_uc009vot.1_Missense_Mutation_p.P372S|NBPF1_uc001ayz.1_Missense_Mutation_p.P372S|NBPF1_uc010oce.1_Missense_Mutation_p.P643S	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	914	NBPF 5.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TAACCTGAAGGAGTTGAATAA	0.483000														454			10		0	0	0.006214	0	0
FRMD1	79981	broad.mit.edu	37	6	168465605	168465605	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:168465605C>T	uc003qwo.4	-	4	659	c.594G>A	c.(592-594)cgG>cgA	p.R198R	FRMD1_uc003qwm.4_5'UTR|FRMD1_uc011egs.2_5'UTR|FRMD1_uc011egt.2_Silent_p.R110R|FRMD1_uc003qwn.4_Silent_p.R130R	NM_024919	NP_079195	Q8N878	FRMD1_HUMAN	Homo sapiens FERM domain containing 1 (FRMD1), transcript variant 1, mRNA.	198	FERM.					cytoskeleton	binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GGGCCGACTCCCGGTGCTCGC	0.652000														2			3		0	0	0.004672	0	0
MYO1D	4642	broad.mit.edu	37	17	30965783	30965783	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:30965783G>A	uc002hho.1	-	19	2678	c.2666C>T	c.(2665-2667)cCc>cTc	p.P889L	MYO1D_uc002hhp.1_Missense_Mutation_p.P889L	NM_015194	NP_056009	O94832	MYO1D_HUMAN	Homo sapiens myosin ID (MYO1D), mRNA.	889						myosin complex	ATP binding|actin binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			CTGTTTAGTGGGATCCATTTT	0.398000														27			22		0	0	0.007291	0	0
SLC8A2	6543	broad.mit.edu	37	19	47941114	47941114	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:47941114C>T	uc010ele.3	-	5	2018	c.2002G>A	c.(2002-2004)Gat>Aat	p.D668N	SLC8A2_uc002pgx.3_Missense_Mutation_p.D668N|SLC8A2_uc010xyq.2_Missense_Mutation_p.D424N|SLC8A2_uc010xyr.2_Missense_Mutation_p.D131N			Q9UPR5	NAC2_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 2 (SLC8A2), mRNA.	668					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		ACCTTAAAATCATATGACTCC	0.567000														45			49		0	0	0.003610	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12862145	12862145	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:12862145C>T	uc002gnr.4	+	15	1781	c.1454C>T	c.(1453-1455)cCc>cTc	p.P485L	ARHGAP44_uc010vvk.2_Missense_Mutation_p.P485L|ARHGAP44_uc010vvl.2_Missense_Mutation_p.P485L|ARHGAP44_uc002gns.4_Missense_Mutation_p.P285L|ARHGAP44_uc010vvm.2_Missense_Mutation_p.P485L|ARHGAP44_uc010vvn.2_Non-coding_Transcript|ARHGAP44_uc002gnt.1_Missense_Mutation_p.P208L	NM_014859	NP_055674	Q17R89	RHG44_HUMAN	Homo sapiens Rho GTPase activating protein 44 (ARHGAP44), mRNA.	485					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						CGGCGCCAGCCCGAGCAGGCC	0.547000														2			6		0	0	0.001168	0	0
COL11A1	1301	broad.mit.edu	37	1	103488487	103488487	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:103488487C>T	uc001dum.3	-	7	1410	c.1092G>A	c.(1090-1092)agG>agA	p.R364R	COL11A1_uc001duk.3_5'UTR|COL11A1_uc001dul.3_Silent_p.R352R|COL11A1_uc001dun.3_Silent_p.R313R|COL11A1_uc009weh.3_Intron	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	352	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)		CAGAATTTTTCCTCTGGGAAT	0.338000														31			9		0	0	0.006214	0	0
DNAH3	55567	broad.mit.edu	37	16	21031051	21031051	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:21031051T>A	uc010vbe.2	-	40	5917	c.5917A>T	c.(5917-5919)Aag>Tag	p.K1973*		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1973					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCAAATTTCTTTCTGCTGTCT	0.473000														24			14		0	0	0.001855	0	0
PRMT2	3275	broad.mit.edu	37	21	48081834	48081834	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr21:48081834C>T	uc002zjx.3	+	9	1417	c.1083C>T	c.(1081-1083)acC>acT	p.T361T	PRMT2_uc002zjy.3_Silent_p.T361T|PRMT2_uc010gqm.3_Silent_p.T259T|PRMT2_uc011aga.2_Intron|PRMT2_uc011agb.2_Intron|PRMT2_uc011agc.2_Intron|PRMT2_uc002zjz.1_3'UTR	NM_206962	NP_996845	P55345	ANM2_HUMAN	Homo sapiens protein arginine methyltransferase 2 (PRMT2), transcript variant 1, mRNA.	361					developmental cell growth|induction of apoptosis|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of androgen receptor signaling pathway	cytosol|nucleus	androgen receptor binding|estrogen receptor binding|histone-arginine N-methyltransferase activity|peroxisome proliferator activated receptor binding|progesterone receptor binding|protein homodimerization activity|retinoic acid receptor binding|signal transducer activity|thyroid hormone receptor binding|transcription coactivator activity			NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	Breast(49;0.247)	Lung NSC(3;0.245)		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)		TGCTCAGCACCGGGCCCTTCC	0.736000														4			11		0	0	0.001855	0	0
TULP4	56995	broad.mit.edu	37	6	158924560	158924560	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:158924560A>G	uc003qrf.3	+	12	5222	c.3865A>G	c.(3865-3867)Aag>Gag	p.K1289E	TULP4_uc003qrg.3_Intron	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	Homo sapiens tubby like protein 4 (TULP4), transcript variant 1, mRNA.	1289					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	p.E1288D(1)		endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GGTGGTGGAGAAGCCCCTTGT	0.617000														37			32		0	0	0.003271	0	0
RBBP6	5930	broad.mit.edu	37	16	24581169	24581169	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:24581169C>T	uc002dmh.3	+	16	4198	c.3158C>T	c.(3157-3159)cCt>cTt	p.P1053L	RBBP6_uc010vcb.1_Missense_Mutation_p.P920L|RBBP6_uc002dmi.3_Missense_Mutation_p.P1019L|RBBP6_uc010bxr.3_Intron|RBBP6_uc002dmk.3_Missense_Mutation_p.P886L	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	1053	Interaction with RB1 (By similarity).				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GAGAGATCTCCTCGATCTGAA	0.393000														21			22		0	0	0.004656	0	0
NPBWR2	2832	broad.mit.edu	37	20	62738121	62738121	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:62738121C>T	uc011abt.2	-	0	64	c.64G>A	c.(64-66)Ggt>Agt	p.G22S		NM_005286	NP_005277	P48146	NPBW2_HUMAN	Homo sapiens neuropeptides B/W receptor 2 (NPBWR2), mRNA.	22						plasma membrane	opioid receptor activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					ACGTTGGCACCCATCGTGGGG	0.637000														55			44		0	0	0.003610	0	0
PREX1	57580	broad.mit.edu	37	20	47273652	47273652	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:47273652C>T	uc002xtw.1	-	17	2072	c.2049G>A	c.(2047-2049)gaG>gaA	p.E683E	PREX1_uc002xtv.1_5'Flank	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	683	PDZ.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|enzyme binding|phospholipid binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TGGACTCCACCTCTGAAAACG	0.637000											OREG0026010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		10			6		0	0	0.001984	0	0
ERG	2078	broad.mit.edu	37	21	39772567	39772567	+	Splice_Site	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr21:39772567C>T	uc010gnw.3	-	8	990	c.695_splice	c.e8-1	p.G232_splice	ERG_uc021wjd.1_Splice_Site_p.G232_splice|ERG_uc002yxa.3_Splice_Site_p.G225_splice|ERG_uc011aek.2_Splice_Site_p.G133_splice|ERG_uc010gnv.3_Intron|ERG_uc010gnx.3_Intron|ERG_uc011ael.2_Splice_Site_p.G232_splice|ERG_uc002yxb.3_Intron|ERG_uc011aem.1_Intron|ERG_uc002yxc.4_Splice_Site_p.G232_splice|ERG_uc010gny.1_Intron	NM_001243428	NP_001230357	P11308	ERG_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog (avian) (ERG), transcript variant 5, mRNA.	232					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.G232E(1)	EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				AGCTGCACCCCCTGCAGACAA	0.428000			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""									31			19		0	0	0.007413	0	0
NLRP5	126206	broad.mit.edu	37	19	56520207	56520207	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:56520207G>A	uc002qmj.3	+	2	496	c.496G>A	c.(496-498)Gaa>Aaa	p.E166K	NLRP5_uc002qmi.3_Missense_Mutation_p.E166K	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	166						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		ACCAAGCAAGGAAAAAGTGCC	0.473000														7			3		0	0	0.000248	0	0
TMEM2	23670	broad.mit.edu	37	9	74344822	74344822	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:74344822G>A	uc011lsa.1	-	9	2528	c.1988C>T	c.(1987-1989)tCa>tTa	p.S663L	TMEM2_uc010mos.2_Missense_Mutation_p.S600L|TMEM2_uc011lsb.1_Non-coding_Transcript	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	Homo sapiens transmembrane protein 2 (TMEM2), transcript variant 1, mRNA.	663						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		CCAGAAAGTTGAAACAGCCCT	0.383000														25			27		0	0	0.002096	0	0
PARP8	79668	broad.mit.edu	37	5	50117067	50117067	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:50117067C>T	uc003jon.4	+	16	1871	c.1689C>T	c.(1687-1689)tcC>tcT	p.S563S	PARP8_uc011cpz.2_Silent_p.S455S|PARP8_uc003joo.3_Silent_p.S563S|PARP8_uc003jop.3_Intron	NM_001178055	NP_078891	Q8N3A8	PARP8_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 8 (PARP8), transcript variant 1, mRNA.	563						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				TACTAGTATCCATGTGTAGGT	0.418000														25			29		0	0	0.007291	0	0
PLCB3	5331	broad.mit.edu	37	11	64028931	64028931	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:64028931C>T	uc009ypi.3	+	14	1918	c.1791C>T	c.(1789-1791)atC>atT	p.I597I	PLCB3_uc009ypg.2_Silent_p.I597I|PLCB3_uc009yph.2_Silent_p.I530I	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	Homo sapiens phospholipase C, beta 3 (phosphatidylinositol-specific) (PLCB3), transcript variant 1, mRNA.	597	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						TCAACTACATCGAACCTGTCA	0.617000														36			19		0	0	0.001216	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204197269	204197269	+	Silent	SNP	C	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:204197269C>A	uc001hau.3	-	20	3290	c.2973G>T	c.(2971-2973)cgG>cgT	p.R991R		NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 6 (PLEKHA6), mRNA.	991										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			AGATTTCAATCCGCTTCTCCT	0.657000														36			8		5.18039e-06	7.15055e-06	0.003080	1	0
GP2	2813	broad.mit.edu	37	16	20335153	20335153	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:20335153G>A	uc002dgv.3	-	2	603	c.520C>T	c.(520-522)Ctg>Ttg	p.L174L	GP2_uc002dgw.3_Silent_p.L174L|GP2_uc002dgx.3_Intron|GP2_uc002dgy.3_Intron	NM_001007240	NP_001007241	P55259	GP2_HUMAN	Homo sapiens glycoprotein 2 (zymogen granule membrane) (GP2), transcript variant 1, mRNA.	174						anchored to membrane|extracellular region|plasma membrane		p.L174L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CAGTATCTCAGATTACACCAG	0.562000														11			7		0	0	0.003080	0	0
ACOT12	134526	broad.mit.edu	37	5	80628364	80628365	+	Missense_Mutation	DNP	AG	TA	TA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:80628364_80628365AG>TA	uc003khl.4	-	12	1377_1378	c.1322_1323CT>TA	c.(1321-1323)cct>cTA	p.P441L	RNU5E-1_uc011cto.1_Intron	NM_130767	NP_570123	Q8WYK0	ACO12_HUMAN	Homo sapiens acyl-CoA thioesterase 12 (ACOT12), mRNA.	441	START.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		CATTCAGTATAGGACAGGTGAT	0.411000														25			23		0	0	0.004672	0	0
RAB19	401409	broad.mit.edu	37	7	140107532	140107532	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:140107532G>A	uc010lni.2	+	1	284	c.86G>A	c.(85-87)gGg>gAg	p.G29E	RAB19_uc011krc.1_Missense_Mutation_p.G29E	NM_001008749	NP_001008749	A4D1S5	RAB19_HUMAN	Homo sapiens RAB19, member RAS oncogene family (RAB19), mRNA.	29					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					TCCAATGTGGGGAAGACGTGT	0.483000														38			26		0	0	0.003330	0	0
PIM2	11040	broad.mit.edu	37	X	48772546	48772546	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:48772546G>A	uc004dls.3	-	3	648	c.346C>T	c.(346-348)Ctc>Ttc	p.L116F		NM_006875	NP_006866	Q9P1W9	PIM2_HUMAN	Homo sapiens pim-2 oncogene (PIM2), mRNA.	116	Protein kinase.				anti-apoptosis|cell proliferation|male meiosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of autophagy|response to virus		ATP binding|protein serine/threonine kinase activity			lung(3)|stomach(1)	4						GGCCGCTCGAGGACCAGCATG	0.597000														0			8		0	0	0.006214	0	0
ZMYND8	23613	broad.mit.edu	37	20	45874881	45874881	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:45874881G>A	uc010zxy.1	-	13	2258	c.2176C>T	c.(2176-2178)Cca>Tca	p.P726S	ZMYND8_uc010ghq.1_Missense_Mutation_p.P376S|ZMYND8_uc010ghr.1_Missense_Mutation_p.P674S|ZMYND8_uc002xst.1_Missense_Mutation_p.P627S|ZMYND8_uc002xsu.1_Missense_Mutation_p.P699S|ZMYND8_uc002xsv.1_Missense_Mutation_p.P627S|ZMYND8_uc002xsw.1_Missense_Mutation_p.P451S|ZMYND8_uc002xsx.1_Missense_Mutation_p.P451S|ZMYND8_uc002xsy.1_Missense_Mutation_p.P674S|ZMYND8_uc002xsz.1_Missense_Mutation_p.P636S|ZMYND8_uc002xta.1_Missense_Mutation_p.P699S|ZMYND8_uc002xtb.1_Missense_Mutation_p.P719S|ZMYND8_uc002xss.2_Missense_Mutation_p.P699S|ZMYND8_uc010zxz.1_Missense_Mutation_p.P694S|ZMYND8_uc002xtc.1_Missense_Mutation_p.P719S|ZMYND8_uc002xtd.1_Missense_Mutation_p.P694S|ZMYND8_uc002xte.1_Missense_Mutation_p.P699S|ZMYND8_uc010zya.1_Missense_Mutation_p.P699S|ZMYND8_uc002xtf.1_Missense_Mutation_p.P719S|ZMYND8_uc002xtg.3_Missense_Mutation_p.P693S|ZMYND8_uc010ghs.2_Missense_Mutation_p.P693S	NM_183047	NP_898868	Q9ULU4	PKCB1_HUMAN	Homo sapiens zinc finger, MYND-type containing 8 (ZMYND8), transcript variant 1, mRNA.	699							protein binding|zinc ion binding	p.D726N(1)		NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TGGACTGTTGGGGAATCCGTC	0.483000														69			51		0	0	0.003610	0	0
RSRC1	51319	broad.mit.edu	37	3	157920866	157920866	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:157920866G>A	uc003fbt.3	+	3	437	c.326G>A	c.(325-327)aGg>aAg	p.R109K	RSRC1_uc011bou.1_Intron|RSRC1_uc003fbu.1_Missense_Mutation_p.R109K|RSRC1_uc003fbv.3_Intron	NM_016625	NP_057709	Q96IZ7	RSRC1_HUMAN	Homo sapiens arginine/serine-rich coiled-coil 1 (RSRC1), mRNA.	109	Arg/Ser-rich.				nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			TGTAGGTCCAGGTCAAGACCT	0.393000														18			7		0	0	0.006214	0	0
PER1	5187	broad.mit.edu	37	17	8046714	8046714	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:8046714G>A	uc002gkd.3	-	18	3180	c.2942C>T	c.(2941-2943)cCa>cTa	p.P981L	PER1_uc010cns.3_5'Flank|PER1_uc010vuq.2_Intron	NM_002616	NP_002607	O15534	PER1_HUMAN	Homo sapiens period homolog 1 (Drosophila) (PER1), mRNA.	981	Pro-rich.				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GAGCTGGAGTGGAGAGCTGCA	0.672000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes						13			22		0	0	0.006320	0	0
GLIS1	148979	broad.mit.edu	37	1	54060103	54060103	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:54060103C>T	uc001cvr.1	-	2	1040	c.473G>A	c.(472-474)gGg>gAg	p.G158E		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA.	158					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						CTGGTGAGGCCCAAAGAGCTC	0.657000														4			19		0	0	0.001216	0	0
PFKFB1	5207	broad.mit.edu	37	X	54978457	54978457	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:54978457A>G	uc004dty.1	-	7	798	c.727T>C	c.(727-729)Tac>Cac	p.Y243H	PFKFB1_uc010nkd.1_Intron|PFKFB1_uc011mol.1_Missense_Mutation_p.Y178H	NM_002625	NP_002616	P16118	F261_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 (PFKFB1), mRNA.	243	6-phosphofructo-2-kinase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						TTCATGAGGTAGTAGACTGTG	0.557000														0			14		0	0	0.003163	0	0
CYTH2	9266	broad.mit.edu	37	19	48977516	48977516	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:48977516G>A	uc002pjj.4	+	6	925	c.625G>A	c.(625-627)Ggc>Agc	p.G209S		NM_017457	NP_059431	Q99418	CYH2_HUMAN	Homo sapiens cytohesin 2 (CYTH2), transcript variant 1, mRNA.	209					actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|membrane fraction|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						GGACAAGCCGGGCCTGGAGCG	0.642000														51			42		0	0	0.003610	0	0
KCNC4	3749	broad.mit.edu	37	1	110766321	110766321	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:110766321G>A	uc009wfr.3	+	1	2200	c.1414G>A	c.(1414-1416)Gtc>Atc	p.V472I	KCNC4_uc001dzf.3_Missense_Mutation_p.V472I|KCNC4_uc001dzh.3_Missense_Mutation_p.V472I|KCNC4_uc001dzi.3_Non-coding_Transcript|KCNC4_uc001dzg.3_Missense_Mutation_p.V472I	NM_001039574	NP_001034663	Q03721	KCNC4_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 4 (KCNC4), transcript variant 3, mRNA.	472					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		GCCTGTCATCGTCAACAACTT	0.612000														42			12		0	0	0.001368	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17697900	17697900	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:17697900T>G	uc002rcl.1	-	0	1807	c.1783A>C	c.(1783-1785)Aca>Cca	p.T595P	RAD51AP2_uc010exn.1_Missense_Mutation_p.T586P	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.	595										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCAATTCTTGTTAAAGAGTCA	0.269000														13			6		0	0	0.001984	0	0
PAPPA2	60676	broad.mit.edu	37	1	176563998	176563998	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:176563998C>T	uc001gkz.3	+	2	2422	c.1258C>T	c.(1258-1260)Cgt>Tgt	p.R420C	PAPPA2_uc001gky.1_Missense_Mutation_p.R420C|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	420					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GCACTATTTCCGTGGACACCT	0.567000														65			16		0	0	0.004990	0	0
FAM175B	23172	broad.mit.edu	37	10	126508016	126508016	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:126508016A>T	uc001lib.4	+	3	309	c.264A>T	c.(262-264)agA>agT	p.R88S		NM_032182	NP_115558	Q15018	F175B_HUMAN	Homo sapiens family with sequence similarity 175, member B (FAM175B), mRNA.	88	MPN-like.					BRISC complex	polyubiquitin binding			NS(1)	1						AAGATCGGAGAAAGGTATGTT	0.353000														9			21		0	0	0.002299	0	0
CD1C	911	broad.mit.edu	37	1	158260927	158260927	+	Missense_Mutation	SNP	C	T	T	rs139113876		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:158260927C>T	uc001fru.3	+	1	357	c.65C>T	c.(64-66)tCc>tTc	p.S22F	CD1C_uc021pbl.1_5'Flank	NM_001765	NP_001756	P29017	CD1C_HUMAN	Homo sapiens CD1c molecule (CD1C), mRNA.	22					T cell activation involved in immune response|antigen processing and presentation	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	p.A21S(1)		NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					CCAAAAGCATCCCAGGAACAC	0.473000														3			21		0	0	0.003330	0	0
GUF1	60558	broad.mit.edu	37	4	44688634	44688634	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:44688634C>T	uc003gww.4	+	7	1049	c.842C>T	c.(841-843)tCc>tTc	p.S281F	GUF1_uc010ifz.1_Non-coding_Transcript	NM_021927	NP_068746	Q8N442	GUF1_HUMAN	Homo sapiens GUF1 GTPase homolog (S. cerevisiae) (GUF1), mRNA.	281					translation	mitochondrial inner membrane	GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						GGAGTGGTTTCCAAAGGAGAT	0.388000														31			9		0	0	0.006214	0	0
ZBTB16	7704	broad.mit.edu	37	11	113935271	113935271	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:113935271G>A	uc001pop.3	+	1	1513	c.1249G>A	c.(1249-1251)Gag>Aag	p.E417K	ZBTB16_uc001poo.1_Missense_Mutation_p.E417K|ZBTB16_uc001poq.3_Missense_Mutation_p.E417K	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	Homo sapiens zinc finger and BTB domain containing 16 (ZBTB16), transcript variant 1, mRNA.	417					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	PML body|nuclear speck|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		TCCTGATAACGAGGCTGTGGA	0.632000														27			28		0	0	0.001786	0	0
ANO2	57101	broad.mit.edu	37	12	5756967	5756967	+	Splice_Site	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:5756967C>T	uc001qnm.2	-	16	1618	c.1546_splice	c.e16-1	p.D516_splice		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	521						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TCTTCATCATCCTGGGGAGAA	0.418000														3			10		0	0	0.000978	0	0
KRTAP10-2	386679	broad.mit.edu	37	21	45970605	45970605	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr21:45970605C>T	uc002zfi.1	-	0	784	c.737G>A	c.(736-738)aGc>aAc	p.S246N	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198693	NP_941966	P60368	KR102_HUMAN	Homo sapiens keratin associated protein 10-2 (KRTAP10-2), mRNA.	246						keratin filament				large_intestine(1)|lung(4)|skin(1)	6						TGAGGAAAAGCTGCAGGAGGC	0.672000														38			22		0	0	0.002780	0	0
CCDC134	79879	broad.mit.edu	37	22	42209274	42209274	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:42209274C>A	uc003bbh.1	+	4	426	c.317C>A	c.(316-318)tCc>tAc	p.S106Y	bK250D10.C22.8_uc003bba.1_Intron|CCDC134_uc011apg.1_Intron	NM_024821	NP_079097	Q9H6E4	CC134_HUMAN	Homo sapiens coiled-coil domain containing 134 (CCDC134), mRNA.	106						extracellular region				large_intestine(1)|lung(2)|ovary(2)|skin(1)	6						CCAGCTTTCTCCCACGTGGTG	0.582000														51			32		2.75727e-19	3.85919e-19	0.004878	1	0
DYNC2H1	79659	broad.mit.edu	37	11	103060423	103060423	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:103060423C>A	uc001phn.1	+	44	7459	c.7315C>A	c.(7315-7317)Caa>Aaa	p.Q2439K	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Missense_Mutation_p.Q2439K	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	2439	AAA 3 (By similarity).				Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AGAGCAGTTACAAACGATTTA	0.294000														18			16		9.16793e-09	1.27176e-08	0.004990	1	0
OSBPL1A	114876	broad.mit.edu	37	18	21883641	21883641	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:21883641G>A	uc002kve.3	-	13	1351	c.1134C>T	c.(1132-1134)tcC>tcT	p.S378S	OSBPL1A_uc010xbc.2_5'UTR|OSBPL1A_uc002kvf.3_Silent_p.S158S	NM_080597	NP_542164	Q9BXW6	OSBL1_HUMAN	Homo sapiens oxysterol binding protein-like 1A (OSBPL1A), transcript variant 2, mRNA.	378					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TGAGAAAGTTGGAAATTTCCC	0.328000														27			56		0	0	0.003610	0	0
TCRVA15	0	broad.mit.edu	37	14	22205018	22205018	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:22205018G>A	uc001wbp.2	+	1	131	c.82G>A	c.(82-84)Gac>Aac	p.D28N	TRA_uc021rpa.1_Intron|TCRVA15_uc010aip.1_Intron|TCRVA15_uc021rpc.1_5'Flank					SubName: Full=Tcell alpha chain; Flags: Fragment;																		CATCTCCATGGACTCATATGA	0.458000														53			36		0	0	0.007835	0	0
AGTPBP1	23287	broad.mit.edu	37	9	88257852	88257852	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:88257852C>T	uc011lte.2	-	11	1295	c.1228G>A	c.(1228-1230)Gat>Aat	p.D410N	AGTPBP1_uc004aod.4_Missense_Mutation_p.D24N|AGTPBP1_uc011ltc.2_Missense_Mutation_p.D296N|AGTPBP1_uc011ltd.2_Missense_Mutation_p.D398N|AGTPBP1_uc010mqc.3_Missense_Mutation_p.D358N	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN	Homo sapiens ATP/GTP binding protein 1 (AGTPBP1), mRNA.	398					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						GTTTCAATATCATCATTCTGA	0.279000														25			10		0	0	0.006214	0	0
SLC22A2	6582	broad.mit.edu	37	6	160679735	160679735	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:160679735G>A	uc003qtf.3	-	0	229	c.55C>T	c.(55-57)Cag>Tag	p.Q19*	SLC22A2_uc003qth.2_Nonsense_Mutation_p.Q19*	NM_003058	NP_003049	O15244	S22A2_HUMAN	Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA.	19					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		ATTTGCTTCTGGAAAAAGTGA	0.622000														19			19		0	0	0.001523	0	0
COL13A1	1305	broad.mit.edu	37	10	71582173	71582174	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:71582173_71582174CC>TT	uc001jql.3	+	1	879_880	c.343_344CC>TT	c.(343-345)cca>TTa	p.P115L	COL13A1_uc021prz.1_Missense_Mutation_p.P115L|COL13A1_uc021psa.1_Missense_Mutation_p.P115L|COL13A1_uc021psb.1_Missense_Mutation_p.P115L|COL13A1_uc001jqk.2_Missense_Mutation_p.P115L|COL13A1_uc021psc.1_Missense_Mutation_p.P115L|COL13A1_uc021psd.1_Missense_Mutation_p.P115L|COL13A1_uc010qjf.2_Missense_Mutation_p.P115L|COL13A1_uc021pse.1_Missense_Mutation_p.P115L|COL13A1_uc021psf.1_Missense_Mutation_p.P115L|COL13A1_uc021psg.1_Missense_Mutation_p.P115L|COL13A1_uc021psh.1_Missense_Mutation_p.P115L	NM_001130103	NP_001123575	Q5TAT6	CODA1_HUMAN	Homo sapiens collagen, type XIII, alpha 1 (COL13A1), transcript variant 1, mRNA.	115	Nonhelical region 1 (NC1).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	AAAGACATCTCCAGGATGTAAC	0.564000														6			4		0	0	0.004672	0	0
ZSWIM3	140831	broad.mit.edu	37	20	44506155	44506155	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:44506155C>T	uc002xqd.3	+	1	1203	c.958C>T	c.(958-960)Cgt>Tgt	p.R320C	ZSWIM3_uc010zxg.2_Missense_Mutation_p.R314C	NM_080752	NP_542790	Q96MP5	ZSWM3_HUMAN	Homo sapiens zinc finger, SWIM-type containing 3 (ZSWIM3), transcript variant 1, mRNA.	320							zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				GAAGTTGCATCGTAGTTCAGC	0.502000														38			38		0	0	0.004289	0	0
OR2A12	346525	broad.mit.edu	37	7	143792412	143792412	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:143792412C>T	uc011kty.2	+	0	212	c.212C>T	c.(211-213)tCc>tTc	p.S71F		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA.	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					GTGGACATGTCCTATGCCTCG	0.453000														22			31		0	0	0.007291	0	0
PRAMEF10	343071	broad.mit.edu	37	1	12954863	12954863	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:12954863C>T	uc001auo.3	-	2	493	c.420G>A	c.(418-420)agG>agA	p.R140R		NM_001039361	NP_001034450	O60809	PRA10_HUMAN	Homo sapiens PRAME family member 10 (PRAMEF10), mRNA.	140										NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCTCTCCCATCCTTGGACAGT	0.517000														14			49		0	0	0.003610	0	0
ADAD2	161931	broad.mit.edu	37	16	84229901	84229901	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:84229901G>A	uc002fhq.2	+	8	1811	c.1697G>A	c.(1696-1698)gGc>gAc	p.G566D	ADAD2_uc002fhr.2_Missense_Mutation_p.G484D|AK123582_uc002fhs.1_Intron	NM_139174	NP_631913	Q8NCV1	ADAD2_HUMAN	Homo sapiens adenosine deaminase domain containing 2 (ADAD2), transcript variant 1, mRNA.	484	A to I editase.				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						ACCTGCCGTGGCCTGAGCCTC	0.706000														3			32		0	0	0.003271	0	0
CUL7	9820	broad.mit.edu	37	6	43016083	43016083	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:43016083G>A	uc003otq.3	-	7	2382	c.2050C>T	c.(2050-2052)Ctg>Ttg	p.L684L	CUL7_uc010jyg.3_5'Flank|CUL7_uc011dvb.2_Silent_p.L768L|KLC4_uc003otr.1_Intron	NM_014780	NP_055595	Q14999	CUL7_HUMAN	Homo sapiens cullin 7 (CUL7), transcript variant 2, mRNA.	684					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			AGCACAGTCAGGTGCAGGGTC	0.602000														90			98		0	0	0.003610	0	0
SEC16B	89866	broad.mit.edu	37	1	177927477	177927477	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:177927477G>A	uc001glj.1	-	14	2024	c.1158C>T	c.(1156-1158)atC>atT	p.I386I	SEC16B_uc001glk.1_Silent_p.I62I|SEC16B_uc001glh.1_Silent_p.I44I|SEC16B_uc001gli.1_Silent_p.I385I|SEC16B_uc009wwz.1_Silent_p.I44I|SEC16B_uc001gll.4_Silent_p.I386I	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN	Homo sapiens SEC16 homolog B (S. cerevisiae) (SEC16B), mRNA.	385					protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GCAGCTCAGCGATGTCAGACC	0.572000														8			26		0	0	0.006320	0	0
RORA	6095	broad.mit.edu	37	15	60919563	60919563	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:60919563C>T	uc002agv.3	-	0	167	c.11G>A	c.(10-12)gGg>gAg	p.G4E	RORA_uc002agw.3_Missense_Mutation_p.G4E|RORA_uc002agx.3_Intron	NM_134260	NP_599022	P35398	RORA_HUMAN	Homo sapiens RAR-related orphan receptor A (RORA), transcript variant 2, mRNA.	4	Modulating.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						TCCTGGGGCCCCCTCATTCAT	0.547000														3			100		0	0	0.003610	0	0
PCLO	27445	broad.mit.edu	37	7	82579263	82579263	+	Silent	SNP	T	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:82579263T>C	uc003uhx.2	-	5	10930	c.10641A>G	c.(10639-10641)gtA>gtG	p.V3547V	PCLO_uc003uhv.2_Silent_p.V3547V|PCLO_uc010lec.3_Silent_p.V512V	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3478					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TAATTATTTCTACCTTGGCAT	0.438000														13			11		0	0	0.000978	0	0
PAX3	5077	broad.mit.edu	37	2	223161887	223161887	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:223161887A>G	uc010fwo.3	-	1	512	c.131T>C	c.(130-132)gTt>gCt	p.V44A	PAX3_uc002vmt.2_Missense_Mutation_p.V44A|PAX3_uc002vmy.2_Missense_Mutation_p.V44A|PAX3_uc002vmv.2_Missense_Mutation_p.V44A|PAX3_uc002vmw.2_Missense_Mutation_p.V44A|PAX3_uc002vmx.2_Missense_Mutation_p.V44A|PAX3_uc002vmz.2_Missense_Mutation_p.V44A|PAX3_uc002vna.2_Missense_Mutation_p.V44A|CCDC140_uc002vnb.1_5'Flank	NM_181457	NP_852122	P23760	PAX3_HUMAN	Homo sapiens paired box 3 (PAX3), transcript variant PAX3, mRNA.	44	Paired.				apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTTGATAAAAACACCGCCGAG	0.597000			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome							2			5		0	0	0.001168	0	0
RAG2	5897	broad.mit.edu	37	11	36615431	36615431	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:36615431C>T	uc021qge.1	-	0	288	c.288G>A	c.(286-288)ggG>ggA	p.G96G	RAG2_uc021qgc.1_Silent_p.G96G|RAG2_uc021qgd.1_Silent_p.G96G|RAG2_uc001mwv.4_Silent_p.G96G|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank|C11orf74_uc010rfd.2_5'Flank	NM_001243786	NP_001230715	P55895	RAG2_HUMAN	Homo sapiens recombination activating gene 2 (RAG2), transcript variant 4, mRNA.	96					T cell differentiation in thymus|V(D)J recombination|chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins	nucleus	DNA binding|chromatin binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding	p.G96W(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				TTGGTGTTTTCCCTCCATGGA	0.428000									Familial Hemophagocytic Lymphohistiocytosis					24			33		0	0	0.002445	0	0
MYOT	9499	broad.mit.edu	37	5	137221830	137221830	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:137221830C>T	uc011cye.2	+	7	1135	c.1118C>T	c.(1117-1119)tCg>tTg	p.S373L	MYOT_uc003lbv.3_Missense_Mutation_p.S373L|MYOT_uc011cyg.2_Missense_Mutation_p.S189L|MYOT_uc011cyh.2_Missense_Mutation_p.S258L	NM_001135940	NP_001129412	Q9UBF9	MYOTI_HUMAN	Homo sapiens myotilin (MYOT), transcript variant 2, mRNA.	373	Ig-like C2-type 2.|Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle			cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGCCAGATCTCGGCTATACCT	0.348000														36			43		0	0	0.003214	0	0
OR5H14	403273	broad.mit.edu	37	3	97868276	97868276	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:97868276G>A	uc003dsg.1	+	0	47	c.47G>A	c.(46-48)gGa>gAa	p.G16E		NM_001005514	NP_001005514	A6NHG9	O5H14_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 14 (OR5H14), mRNA.	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GTTCTCACAGGATTTTTATAT	0.403000														20			7		0	0	0.002450	0	0
SI	6476	broad.mit.edu	37	3	164739019	164739019	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:164739019G>A	uc003fei.3	-	26	3315	c.3252C>T	c.(3250-3252)gtC>gtT	p.V1084V		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1084	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.V1084V(2)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TTACTTACATGACTCTTCCAC	0.353000										HNSCC(35;0.089)				5			11		0	0	0.001368	0	0
DDX25	29118	broad.mit.edu	37	11	125778306	125778306	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:125778306C>T	uc001qcz.4	+	5	556	c.415C>T	c.(415-417)Ctc>Ttc	p.L139F	DDX25_uc010sbk.2_Missense_Mutation_p.L139F	NM_013264	NP_037396	Q9UHL0	DDX25_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 25 (DDX25), mRNA.	139	Helicase ATP-binding.				mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)		ACCCCAGAACCTCATAGCACA	0.428000														91			37		0	0	0.007835	0	0
HGFAC	3083	broad.mit.edu	37	4	3443791	3443791	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:3443791C>T	uc003ghc.3	+	0	66	c.63C>T	c.(61-63)ctC>ctT	p.L21L	HGFAC_uc010icw.3_Silent_p.L21L	NM_001528	NP_001519	Q04756	HGFA_HUMAN	Homo sapiens HGF activator (HGFAC), mRNA.	21					proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCTTCCTCCTCCTCCTCCTGC	0.726000														8			17		0	0	0.004007	0	0
MYOCD	93649	broad.mit.edu	37	17	12656300	12656300	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:12656300C>T	uc002gno.2	+	9	1994	c.1695C>T	c.(1693-1695)ttC>ttT	p.F565F	MYOCD_uc002gnn.2_Silent_p.F565F|MYOCD_uc002gnp.1_Silent_p.F469F|MYOCD_uc002gnq.2_Silent_p.F284F	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	565					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CGCTGCCTTTCCTGGCTGCCT	0.532000														8			16		0	0	0.004990	0	0
C3	718	broad.mit.edu	37	19	6684839	6684839	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:6684839C>T	uc002mfm.3	-	30	4038	c.3976G>A	c.(3976-3978)Gaa>Aaa	p.E1326K		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	1326					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CCCTCATTTTCCTTGGTCTGC	0.537000														74			55		0	0	0.003610	0	0
SPPL2B	56928	broad.mit.edu	37	19	2351460	2351460	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:2351460C>T	uc002lvs.3	+	14	1460	c.1380C>T	c.(1378-1380)ttC>ttT	p.F460F	SPPL2B_uc002lvr.3_Silent_p.F460F	NM_152988	NP_694533	Q8TCT7	PSL1_HUMAN	Homo sapiens signal peptide peptidase-like 2B (SPPL2B), transcript variant 2, mRNA.	461						Golgi membrane|integral to membrane	aspartic-type endopeptidase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGTGACATTCGTGGCACTGG	0.667000														55			41		0	0	0.003214	0	0
AHNAK	79026	broad.mit.edu	37	11	62288540	62288540	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:62288540G>A	uc001ntl.3	-	4	13649	c.13349C>T	c.(13348-13350)cCt>cTt	p.P4450L	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	4450					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GTTCATCTCAGGCATCTTAAA	0.438000														81			37		0	0	0.006999	0	0
C12orf51	283450	broad.mit.edu	37	12	112622799	112622799	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:112622799G>A	uc021reb.1	-	60	9965	c.9569C>T	c.(9568-9570)tCg>tTg	p.S3190L		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						CTTGCCCGACGAGGAGGCCTT	0.632000														5			3		0	0	0.004672	0	0
THSD7B	80731	broad.mit.edu	37	2	138420994	138420994	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:138420994G>A	uc002tva.1	+	24	4410	c.4410G>A	c.(4408-4410)atG>atA	p.M1470I	THSD7B_uc010zbj.1_Non-coding_Transcript	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CAGAGATAATGAAATCAAATG	0.378000														5			6		0	0	0.001984	0	0
TEX10	54881	broad.mit.edu	37	9	103102591	103102591	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:103102591G>A	uc004bas.3	-	4	1413	c.1198C>T	c.(1198-1200)Cca>Tca	p.P400S	TEX10_uc011lvf.2_Missense_Mutation_p.P239S|TEX10_uc011lvg.2_Missense_Mutation_p.P403S|TEX10_uc011lvh.1_Missense_Mutation_p.P335S	NM_017746	NP_060216	Q9NXF1	TEX10_HUMAN	Homo sapiens testis expressed 10 (TEX10), transcript variant 1, mRNA.	400						MLL1 complex|integral to membrane|nuclear membrane|nucleolus	binding			NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		AAGACATATGGAAAACGACTC	0.299000														95			28		0	0	0.002836	0	0
UGT2B4	7363	broad.mit.edu	37	4	70359505	70359506	+	Nonsense_Mutation	DNP	CG	TA	TA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:70359505_70359506CG>TA	uc003hek.4	-	1	822_823	c.775_776CG>TA	c.(775-777)cga>TAa	p.R259*	UGT2B4_uc011cap.2_Nonsense_Mutation_p.R123*|UGT2B4_uc003hel.4_Nonsense_Mutation_p.R259*	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	259					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						CCAGTAGTTTCGAATAAGCCAT	0.416000														14			8		0	0	0.004672	0	0
POTEG	404785	broad.mit.edu	37	14	19553567	19553567	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:19553567G>A	uc001vuz.1	+	0	203	c.151G>A	c.(151-153)Gat>Aat	p.D51N	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	51										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AGACCACGACGATTCTGCTAT	0.602000														255			50		0	0	0.003610	0	0
ZHX2	22882	broad.mit.edu	37	8	123964304	123964304	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:123964304C>T	uc022bag.1	+	0	554	c.554C>T	c.(553-555)cCc>cTc	p.P185L	ZHX2_uc003ypk.1_Missense_Mutation_p.P185L	NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	Homo sapiens zinc fingers and homeoboxes 2 (ZHX2), mRNA.	185						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			AGTAAAACCCCCATCATGAAG	0.567000														23			41		0	0	0.002222	0	0
ABCC4	10257	broad.mit.edu	37	13	95822792	95822792	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:95822792C>T	uc001vmd.4	-	13	1937	c.1818G>A	c.(1816-1818)ttG>ttA	p.L606L	ABCC4_uc010afk.3_Silent_p.L606L|ABCC4_uc001vme.2_Silent_p.L606L|ABCC4_uc010tih.1_Silent_p.L531L|ABCC4_uc001vmf.2_Silent_p.L563L|ABCC4_uc010afl.1_Silent_p.L563L|ABCC4_uc010afm.1_Silent_p.L619L	NM_005845	NP_005836	O15439	MRP4_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA.	606	ABC transporter 1.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TTACATCTTTCAATATCAGAA	0.383000														11			4		0	0	0.000602	0	0
HRH1	3269	broad.mit.edu	37	3	11301716	11301716	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:11301716C>T	uc010hdr.3	+	1	1335	c.993C>T	c.(991-993)ctC>ctT	p.L331L	HRH1_uc010hds.3_Silent_p.L331L|HRH1_uc010hdt.3_Silent_p.L331L|HRH1_uc003bwb.4_Silent_p.L331L|HRH1_uc021wtb.1_Silent_p.L331L	NM_001098213	NP_001091683	P35367	HRH1_HUMAN	Homo sapiens histamine receptor H1 (HRH1), transcript variant 1, mRNA.	331					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	ATGGCCAGCTCAAGACAGATG	0.527000														16			33		0	0	0.002836	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33684080	33684080	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:33684080G>A	uc003jia.1	-	3	878	c.715C>T	c.(715-717)Cgg>Tgg	p.R239W	ADAMTS12_uc010iuq.1_Missense_Mutation_p.R239W	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	239					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						ATGGAACGCCGAGAGAGGCTT	0.507000										HNSCC(64;0.19)				23			24		0	0	0.003954	0	0
BMP3	651	broad.mit.edu	37	4	81967591	81967591	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:81967591G>T	uc003hmg.4	+	1	1336	c.1016G>T	c.(1015-1017)aGa>aTa	p.R339I		NM_001201	NP_001192	P12645	BMP3_HUMAN	Homo sapiens bone morphogenetic protein 3 (BMP3), mRNA.	339					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						AAGAAACAGAGAAAGGGGCCT	0.483000														3			6		0.00116845	0.00160997	0.001168	1	0
RNF216	54476	broad.mit.edu	37	7	5662660	5662660	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:5662660G>A	uc003sox.2	-	16	2862	c.2603C>T	c.(2602-2604)cCc>cTc	p.P868L	RNF216_uc010ksz.2_Missense_Mutation_p.P433L|RNF216_uc010kta.2_Missense_Mutation_p.P433L|RNF216_uc003soy.2_Missense_Mutation_p.P811L|RNF216_uc011jwj.2_Missense_Mutation_p.P433L	NM_207111	NP_996994	Q9NWF9	RN216_HUMAN	Homo sapiens ring finger protein 216 (RNF216), transcript variant 1, mRNA.	811					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		AGGCCGCACGGGAGGCAGGGG	0.652000														2			62		0	0	0.003610	0	0
TAGAP	117289	broad.mit.edu	37	6	159457400	159457400	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:159457400C>T	uc003qrz.3	-	9	1987	c.1655G>A	c.(1654-1656)cGa>cAa	p.R552Q	TAGAP_uc011eft.2_Missense_Mutation_p.R489Q|TAGAP_uc003qsa.3_Missense_Mutation_p.R374Q	NM_054114	NP_687034	Q8N103	TAGAP_HUMAN	Homo sapiens T-cell activation RhoGTPase activating protein (TAGAP), transcript variant 2, mRNA.	552					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CTGCACGATTCGGCCGGCAAG	0.592000														58			53		0	0	0.003610	0	0
FAT4	79633	broad.mit.edu	37	4	126241866	126241866	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:126241866C>T	uc003ifj.4	+	0	4300	c.4300C>T	c.(4300-4302)Ccc>Tcc	p.P1434S		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1434	Cadherin 14.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGAGAACATTCCCATCGGTAC	0.413000														35			47		0	0	0.003610	0	0
OR2S2	56656	broad.mit.edu	37	9	35957264	35957264	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:35957264C>T	uc011lpi.2	-	0	888	c.832G>A	c.(832-834)Gac>Aac	p.D278N		NM_019897	NP_063950	Q9NQN1	OR2S1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily S, member 2 (OR2S2), mRNA.	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)			ATGAGTTTGTCTGAAAGATCC	0.507000														37			25		0	0	0.005443	0	0
SUN2	25777	broad.mit.edu	37	22	39146965	39146965	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:39146965C>T	uc011anz.2	-	4	518	c.467G>A	c.(466-468)cGc>cAc	p.R156H	SUN2_uc011aoa.2_Intron|SUN2_uc003awh.2_Missense_Mutation_p.R121H|SUN2_uc010gxq.2_Missense_Mutation_p.R121H|SUN2_uc003awi.2_Missense_Mutation_p.R121H|SUN2_uc010gxr.2_Missense_Mutation_p.R121H	NM_015374	NP_056189	Q9UH99	SUN2_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 2 (SUN2), transcript variant 2, mRNA.	121	Ser-rich.				centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|endosome membrane|integral to membrane|nuclear inner membrane	lamin binding|microtubule binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						GGTGGCCTTGCGCCCCACAAG	0.667000														9			10		0	0	0.000673	0	0
PREPL	9581	broad.mit.edu	37	2	44569614	44569614	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:44569614G>C	uc002ruf.3	-	4	1653	c.694C>G	c.(694-696)Cga>Gga	p.R232G	PREPL_uc002rug.3_Missense_Mutation_p.R232G|PREPL_uc002ruh.3_Missense_Mutation_p.R232G|PREPL_uc010fax.3_Missense_Mutation_p.R232G|PREPL_uc002rui.4_Missense_Mutation_p.R143G|PREPL_uc002ruj.2_Missense_Mutation_p.R143G|PREPL_uc002ruk.2_Missense_Mutation_p.R232G	NM_006036	NP_006027	Q4J6C6	PPCEL_HUMAN	Homo sapiens prolyl endopeptidase-like (PREPL), transcript variant 1, mRNA.	232					proteolysis	cytosol	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AAAGTGGCTCGATATACGTCA	0.363000														26			30		0	0	0.003755	0	0
PROX2	283571	broad.mit.edu	37	14	75329428	75329428	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:75329428C>T	uc021rwo.1	-	0	1110	c.1110G>A	c.(1108-1110)caG>caA	p.Q370Q	PROX2_uc001xqp.2_Silent_p.Q370Q|PROX2_uc001xqq.2_Intron	NM_001080408	NP_001229936	Q3B8N5	PROX2_HUMAN	Homo sapiens prospero homeobox 2 (PROX2), transcript variant 2, mRNA.	370					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		AGGGGTGCCTCTGGGAAGATG	0.542000														14			13		0	0	0.001368	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43822140	43822140	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:43822140C>T	uc010skx.2	-	25	3849	c.3849G>A	c.(3847-3849)acG>acA	p.T1283T	ADAMTS20_uc001rno.1_Silent_p.T401T|ADAMTS20_uc001rnp.1_Silent_p.T437T	NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1283						proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ATGGCAAATTCGTGCTTAGAT	0.483000														20			34		0	0	0.002836	0	0
NACAP1	83955	broad.mit.edu	37	8	102381364	102381365	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:102381364_102381365GG>AA	uc003ykc.1	+	0	244_245	c.227_228GG>AA	c.(226-228)cgg>cAA	p.R76Q	NACAP1_uc010mbs.1_Non-coding_Transcript					Homo sapiens nascent-polypeptide-associated complex alpha polypeptide pseudogene 1 (NACAP1), non-coding RNA.																		AAGAAGGCACGGAAGGCTAGGT	0.460000														20			33		0	0	0.004672	0	0
ARID4B	51742	broad.mit.edu	37	1	235384941	235384941	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:235384941C>T	uc021pks.1	-	13	1479	c.1102G>A	c.(1102-1104)Gat>Aat	p.D368N	ARID4B_uc001hwq.3_Missense_Mutation_p.D368N|ARID4B_uc001hwr.3_Missense_Mutation_p.D368N|ARID4B_uc001hws.4_Missense_Mutation_p.D368N|ARID4B_uc001hwt.4_Missense_Mutation_p.D49N	NM_001206794	NP_001193723	Q4LE39	ARI4B_HUMAN	Homo sapiens AT rich interactive domain 4B (RBP1-like) (ARID4B), transcript variant 3, mRNA.	368	ARID.|Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			ATTCCAAGATCTTGGTAGACT	0.289000														45			10		0	0	0.003163	0	0
ZNF648	127665	broad.mit.edu	37	1	182027129	182027129	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:182027129G>A	uc001goz.3	-	1	225	c.17C>T	c.(16-18)tCc>tTc	p.S6F	ZNF648_uc021pfu.1_Missense_Mutation_p.S6F	NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	Homo sapiens zinc finger protein 648 (ZNF648), mRNA.	6					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						CCTGTCCTGGGAGTCCACTTG	0.512000														45			14		0	0	0.004007	0	0
HYAL1	3373	broad.mit.edu	37	3	50339964	50339964	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:50339964C>T	uc003czp.3	-	1	556	c.424G>A	c.(424-426)Gac>Aac	p.D142N	HYAL1_uc003czm.3_5'UTR|HYAL1_uc003czo.3_Intron|HYAL1_uc003czq.3_Missense_Mutation_p.D142N|HYAL1_uc003czr.3_Missense_Mutation_p.D142N|HYAL1_uc003czn.3_Intron|HYAL1_uc003czs.3_Missense_Mutation_p.D142N|HYAL1_uc003czt.3_Missense_Mutation_p.D142N	NM_033159	NP_695015	Q12794	HYAL1_HUMAN	Homo sapiens hyaluronoglucosaminidase 1 (HYAL1), transcript variant 7, mRNA.	142						extracellular space|lysosome	hyalurononglucosaminidase activity			cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	Hyaluronidase(DB00070)	TCCTTGGTGTCCCAGTTGAAG	0.617000														104			26		0	0	0.002445	0	0
UVRAG	7405	broad.mit.edu	37	11	75715092	75715092	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:75715092G>A	uc001oxc.3	+	8	1111	c.870G>A	c.(868-870)aaG>aaA	p.K290K	UVRAG_uc010rrw.2_Silent_p.K189K|UVRAG_uc001oxd.3_5'UTR|UVRAG_uc010rrx.2_5'UTR|UVRAG_uc009yuh.1_Non-coding_Transcript	NM_003369	NP_003360	Q9P2Y5	UVRAG_HUMAN	Homo sapiens UV radiation resistance associated gene (UVRAG), mRNA.	290					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						AACTCCAGAAGGAATCCCTAA	0.408000														33			40		0	0	0.002222	0	0
C12orf74	338809	broad.mit.edu	37	12	93100637	93100637	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:93100637C>T	uc001tch.2	+	1	681	c.230C>T	c.(229-231)cCt>cTt	p.P77L	C12orf74_uc001tci.3_Missense_Mutation_p.P77L|C12orf74_uc021rbt.1_Missense_Mutation_p.P77L	NM_001037671	NP_001032760	Q32Q52	CL074_HUMAN	Homo sapiens chromosome 12 open reading frame 74 (C12orf74), transcript variant 2, mRNA.	77										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						TGGGGAGCTCCTGTGGGCTTC	0.572000														18			25		0	0	0.003954	0	0
OR5B2	390190	broad.mit.edu	37	11	58190695	58190695	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:58190695C>T	uc010rkg.2	-	0	92	c.40G>A	c.(40-42)Gga>Aga	p.G14R		NM_001005566	NP_001005566	Q96R09	OR5B2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 2 (OR5B2), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CTGGTTAGTCCTAGAAGAATG	0.418000														9			8		0	0	0.004482	0	0
GTF3C1	2975	broad.mit.edu	37	16	27506539	27506539	+	Silent	SNP	C	T	T	rs145138670		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:27506539C>T	uc002dov.2	-	14	2665	c.2625G>A	c.(2623-2625)acG>acA	p.T875T	GTF3C1_uc002dou.3_Silent_p.T875T	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	875						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CACCTGTCTCCGTGGCAAGCT	0.587000														43			30		0	0	0.002096	0	0
MDGA1	266727	broad.mit.edu	37	6	37623614	37623614	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:37623614G>A	uc003onu.1	-	3	1620	c.441C>T	c.(439-441)ttC>ttT	p.F147F		NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 1 (MDGA1), mRNA.	147	Ig-like 2.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						TCTCCTGGTAGAAGTTGCCTC	0.612000														17			7		0	0	0.004482	0	0
ABCA10	10349	broad.mit.edu	37	17	67189349	67189349	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:67189349A>G	uc010dfa.1	-	15	2561	c.1682T>C	c.(1681-1683)tTt>tCt	p.F561S	ABCA10_uc010wqt.1_Non-coding_Transcript|ABCA10_uc010dfb.1_Missense_Mutation_p.F162S	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.	561	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					GTGTCTTGAAAAGGGATCCAA	0.473000														26			15		0	0	0.004990	0	0
TSKS	60385	broad.mit.edu	37	19	50250040	50250040	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:50250040G>A	uc002ppm.3	-	5	690	c.679C>T	c.(679-681)Ctc>Ttc	p.L227F		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	Homo sapiens testis-specific serine kinase substrate (TSKS), mRNA.	227							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		tgctgctgGAGGTAGCGCAGC	0.662000														11			7		0	0	0.006214	0	0
ZC3H12B	340554	broad.mit.edu	37	X	64708988	64708988	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:64708988G>C	uc010nko.3	+	0	374	c.307G>C	c.(307-309)Gac>Cac	p.D103H		NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN	Homo sapiens zinc finger CCCH-type containing 12B (ZC3H12B), mRNA.	92							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGGTAAACTTGACTTGGAGAA	0.493000														2			53		0	0	0.003610	0	0
VPS54	51542	broad.mit.edu	37	2	64160887	64160887	+	Silent	SNP	G	A	A	rs138163290		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:64160887G>A	uc002scq.3	-	11	1822	c.1659C>T	c.(1657-1659)tcC>tcT	p.S553S	VPS54_uc002scp.3_Silent_p.S541S|VPS54_uc002sco.3_Silent_p.S38S|VPS54_uc010fct.3_Silent_p.S400S	NM_016516	NP_057600	Q9P1Q0	VPS54_HUMAN	Homo sapiens vacuolar protein sorting 54 homolog (S. cerevisiae) (VPS54), transcript variant 1, mRNA.	553					protein transport|retrograde transport, endosome to Golgi					endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						ATTCTGGCTCGGATACAGAAT	0.453000														24			21		0	0	0.002299	0	0
GPR65	8477	broad.mit.edu	37	14	88477854	88477854	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:88477854G>A	uc021rxh.1	+	0	663	c.663G>A	c.(661-663)aaG>aaA	p.K221K	GPR65_uc001xvv.3_Silent_p.K221K	NM_003608	NP_003599	Q8IYL9	PSYR_HUMAN	Homo sapiens G protein-coupled receptor 65 (GPR65), mRNA.	221					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						ACAAGGAAAAGAAGAGAATCA	0.428000														4			9		0	0	0.006214	0	0
KCNT1	57582	broad.mit.edu	37	9	138676386	138676386	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:138676386C>T	uc011mdq.2	+	25	3023	c.2949C>T	c.(2947-2949)ttC>ttT	p.F983F	KCNT1_uc011mdr.2_Silent_p.F810F|KCNT1_uc010nbf.3_Silent_p.F938F|KCNT1_uc004cgo.1_Silent_p.F732F	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	983						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GCCAGTCCTTCGTGAAGGACT	0.687000														2			5		0	0	0.000602	0	0
FAM47C	442444	broad.mit.edu	37	X	37029226	37029226	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:37029226G>A	uc004ddl.2	+	0	2795	c.2743G>A	c.(2743-2745)Gaa>Aaa	p.E915K		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	915										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CTTCTCACAGGAAAAAGACTT	0.453000														3			28		0	0	0.005443	0	0
MTNR1A	4543	broad.mit.edu	37	4	187455635	187455635	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:187455635C>T	uc003izd.1	-	1	279	c.261G>A	c.(259-261)tcG>tcA	p.S87S		NM_005958	NP_005949	P48039	MTR1A_HUMAN	Homo sapiens melatonin receptor 1A (MTNR1A), mRNA.	87					G-protein signaling, coupled to cyclic nucleotide second messenger|circadian rhythm|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	TGTTAAATATCGACATCAGCA	0.507000														45			30		0	0	0.001512	0	0
OR4K2	390431	broad.mit.edu	37	14	20345076	20345076	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:20345076C>T	uc001vwh.1	+	0	650	c.650C>T	c.(649-651)tCa>tTa	p.S217L		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTATTTAATTCATATGTTATT	0.383000														59			53		0	0	0.003610	0	0
PLA2G3	50487	broad.mit.edu	37	22	31533712	31533712	+	Silent	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:31533712A>G	uc003aka.3	-	3	1179	c.1050T>C	c.(1048-1050)ggT>ggC	p.G350G		NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN	Homo sapiens phospholipase A2, group III (PLA2G3), mRNA.	350					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						GTTTTAGGCCACCCTGTGGGC	0.612000														71			73		0	0	0.003610	0	0
SPATA6L	55064	broad.mit.edu	37	9	4622493	4622494	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:4622493_4622494GG>AA	uc011llz.2	-	5	758_759	c.512_513CC>TT	c.(511-513)ccc>cTT	p.P171L	SPATA6L_uc003zik.3_Non-coding_Transcript|SPATA6L_uc003zil.3_Non-coding_Transcript|SPATA6L_uc011lly.2_Missense_Mutation_p.P106L	NM_001039395	NP_001034484	B4DIY4	B4DIY4_HUMAN	Homo sapiens chromosome 9 open reading frame 68 (C9orf68), mRNA.	171																	TCTCACCAAAGGGCTTTGCACT	0.436000														28			9		0	0	0.004672	0	0
SLC13A1	6561	broad.mit.edu	37	7	122755593	122755593	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:122755593C>T	uc003vkm.3	-	14	1792	c.1767G>A	c.(1765-1767)atG>atA	p.M589I	SLC13A1_uc010lks.3_Missense_Mutation_p.M465I	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 1 (SLC13A1), mRNA.	589						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	TCTCATTACTCATAGCAGGAG	0.398000														10			16		0	0	0.007413	0	0
RUVBL2	10856	broad.mit.edu	37	19	49506557	49506557	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:49506557G>A	uc002plr.1	+	2	102	c.89G>A	c.(88-90)gGa>gAa	p.G30E	RUVBL2_uc010yab.2_Missense_Mutation_p.G30E|RUVBL2_uc002pls.1_Non-coding_Transcript|RUVBL2_uc010emn.1_5'UTR	NM_006666	NP_006657	Q9Y230	RUVB2_HUMAN	Homo sapiens RuvB-like 2 (E. coli) (RUVBL2), mRNA.	30					DNA recombination|DNA repair|cellular response to UV|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|MLL1 complex|NuA4 histone acetyltransferase complex|cytoplasm|membrane|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		CACATCCGGGGACTGGGGCTG	0.602000														41			22		0	0	0.005443	0	0
EGFL8	80864	broad.mit.edu	37	6	32135002	32135002	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:32135002C>T	uc003oab.1	+	5	676	c.569C>T	c.(568-570)cCc>cTc	p.P190L	EGFL8_uc003nzy.2_Non-coding_Transcript|EGFL8_uc003oac.1_Missense_Mutation_p.P190L	NM_030652	NP_085155	Q99944	EGFL8_HUMAN	Homo sapiens EGF-like-domain, multiple 8 (EGFL8), transcript variant 1, mRNA.	190						extracellular region|integral to membrane	calcium ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						TCCCCAGAGCCCCCAACCAGT	0.667000														79			117		0	0	0.003610	0	0
DBH	1621	broad.mit.edu	37	9	136516836	136516836	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:136516836G>A	uc004cel.3	+	6	1281	c.1272G>A	c.(1270-1272)ctG>ctA	p.L424L		NM_000787	NP_000778	P09172	DOPO_HUMAN	Homo sapiens dopamine beta-hydroxylase (dopamine beta-monooxygenase) (DBH), mRNA.	424					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	L-ascorbic acid binding|dopamine beta-monooxygenase activity			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	TCACAGTGCTGGTCCGGGACG	0.652000														3			13		0	0	0.001368	0	0
CEP128	145508	broad.mit.edu	37	14	81259447	81259448	+	Missense_Mutation	DNP	GT	AG	AG			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:81259447_81259448GT>AG	uc001xux.2	-	12	1387_1388	c.1216_1217AC>CT	c.(1216-1218)aca>CTa	p.T406L	CEP128_uc010asz.2_Non-coding_Transcript	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN	Homo sapiens centrosomal protein 128kDa (CEP128), mRNA.	406						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						CAGTTCACGTGTTAAATTCTAC	0.396000														22			11		0	0	0.004672	0	0
FLG2	388698	broad.mit.edu	37	1	152329780	152329780	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:152329780C>T	uc001ezw.4	-	2	555	c.482G>A	c.(481-483)aGg>aAg	p.R161K	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	161	Ser-rich.						calcium ion binding|structural molecule activity	p.R161K(2)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTTCCTAGCCTCCTGGAGTT	0.488000														138			40		0	0	0.001951	0	0
ANAPC2	29882	broad.mit.edu	37	9	140075310	140075311	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:140075310_140075311GG>AA	uc004clr.1	-	7	1612_1613	c.1539_1540CC>TT	c.(1537-1542)gacctc>gaTTtc	p.L514F	ANAPC2_uc004clq.1_Missense_Mutation_p.L370F	NM_013366	NP_037498	Q9UJX6	ANC2_HUMAN	Homo sapiens anaphase promoting complex subunit 2 (ANAPC2), mRNA.	514					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		TTGATGAAGAGGTCCTTGCTGC	0.634000														13			30		0	0	0.004672	0	0
SSSCA1	10534	broad.mit.edu	37	11	65338926	65338926	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:65338926C>T	uc001oek.3	+	3	341	c.321C>T	c.(319-321)ctC>ctT	p.L107L	LOC254100_uc021qlm.1_5'Flank|FAM89B_uc001oem.2_5'Flank|FAM89B_uc001oen.2_5'Flank|FAM89B_uc001oel.2_5'Flank	NM_006396	NP_006387	O60232	SSA27_HUMAN	Homo sapiens Sjogren syndrome/scleroderma autoantigen 1 (SSSCA1), mRNA.	107					cell division|mitosis		protein binding			kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						CCTCAGAGCTCCCCCTGGGCT	0.647000														39			31		0	0	0.001786	0	0
FAM135B	51059	broad.mit.edu	37	8	139164962	139164962	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:139164962C>T	uc003yuy.3	-	12	1927	c.1756G>A	c.(1756-1758)Gga>Aga	p.G586R	FAM135B_uc003yux.3_Missense_Mutation_p.G487R|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.G148R|FAM135B_uc003yvb.3_Missense_Mutation_p.G148R	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	586										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CTGTCTAATCCATACTTATCT	0.453000										HNSCC(54;0.14)				54			17		0	0	0.001882	0	0
TLL1	7092	broad.mit.edu	37	4	167020678	167020678	+	Splice_Site	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:167020678G>A	uc003irh.2	+	20	3554	c.2907_splice	c.e20+1	p.G969_splice	TLL1_uc011cjn.2_Splice_Site_p.G992_splice|TLL1_uc011cjo.2_Splice_Site_p.G793_splice	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	969	CUB 5.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TGTGGATCCGGGGTAAATATA	0.428000														14			11		0	0	0.001368	0	0
NIPSNAP1	8508	broad.mit.edu	37	22	29954921	29954921	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:29954921C>T	uc003afx.4	-	8	983	c.728G>A	c.(727-729)cGg>cAg	p.R243Q	NIPSNAP1_uc011akp.2_Missense_Mutation_p.R223Q	NM_003634	NP_003625	Q9BPW8	NIPS1_HUMAN	Homo sapiens nipsnap homolog 1 (C. elegans) (NIPSNAP1), transcript variant 1, mRNA.	243										large_intestine(2)|lung(2)|skin(1)	5						AGTCTCCTCCCGAGACTGCAG	0.542000														37			29		0	0	0.003271	0	0
LOC100499466	100499466	broad.mit.edu	37	17	66131591	66131591	+	RNA	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:66131591C>T	uc002jgq.3	+	5		c.10714C>T								Homo sapiens uncharacterized LOC100499466 (LOC100499466), non-coding RNA.																		CTCGATGGTCCTGGACAGTAC	0.592000														8			17		0	0	0.004990	0	0
SORBS2	8470	broad.mit.edu	37	4	186545351	186545351	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:186545351G>A	uc003iyg.3	-	12	1594	c.1562C>T	c.(1561-1563)tCc>tTc	p.S521F	SORBS2_uc003iyh.3_Intron|SORBS2_uc011ckw.2_Intron|SORBS2_uc003iyi.3_Intron|SORBS2_uc011ckx.2_Intron|SORBS2_uc003iyk.3_Intron|SORBS2_uc003iym.3_Missense_Mutation_p.S507F|SORBS2_uc003iyl.3_Missense_Mutation_p.S407F|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.2_Intron|SORBS2_uc011ckv.2_Missense_Mutation_p.S311F|SORBS2_uc003iyd.3_Intron|SORBS2_uc003iye.3_Intron|SORBS2_uc003iya.3_Intron|SORBS2_uc003iyb.3_Intron|SORBS2_uc003iyc.3_Intron|SORBS2_uc003iyf.3_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA.	407						Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		ACATAACAGGGAGCCCATGCT	0.577000														63			11		0	0	0.000978	0	0
SCN9A	6335	broad.mit.edu	37	2	167142945	167142945	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:167142945C>T	uc010fpl.3	-	10	1844	c.1503G>A	c.(1501-1503)tcG>tcA	p.S501S	BC051759_uc002udp.3_Intron|SCN9A_uc002udr.1_Silent_p.S372S|SCN9A_uc002uds.1_Silent_p.S372S|SCN9A_uc002udt.1_Silent_p.S372S	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	501				S -> P (in Ref. 3; AAT85835).		voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.S501S(2)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	ATTCTGATTTCGACAATTTCT	0.428000														53			26		0	0	0.001512	0	0
ATF6	22926	broad.mit.edu	37	1	161789483	161789483	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:161789483C>T	uc001gbs.3	+	7	1087	c.970C>T	c.(970-972)Cgc>Tgc	p.R324C	ATF6_uc001gbq.2_Missense_Mutation_p.R324C	NM_007348	NP_031374	P18850	ATF6A_HUMAN	Homo sapiens activating transcription factor 6 (ATF6), mRNA.	324					positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			TTGTCAGTCTCGCAAGAAGAA	0.398000														32			8		0	0	0.006214	0	0
MS4A6A	64231	broad.mit.edu	37	11	59942973	59942973	+	Silent	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:59942973A>G	uc010rla.2	-	5	1008	c.535T>C	c.(535-537)Ttg>Ctg	p.L179L	MS4A6A_uc001noq.3_Intron|MS4A6A_uc009ymv.3_Silent_p.L151L|MS4A6A_uc001not.3_Silent_p.L151L|MS4A6A_uc010rlb.2_Silent_p.L106L	NM_001247999	NP_001234928	Q9H2W1	M4A6A_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 6A (MS4A6A), transcript variant 4, mRNA.	151						integral to membrane	receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTTTTGTCCAACTCACACTGC	0.438000														26			15		0	0	0.003163	0	0
GRID1	2894	broad.mit.edu	37	10	87628830	87628830	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:87628830C>T	uc001kdl.1	-	5	989	c.888G>A	c.(886-888)agG>agA	p.R296R	GRID1_uc009xsu.1_Non-coding_Transcript	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	296						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	GGTGGTTGTTCCTCGTGCATT	0.582000										Multiple Myeloma(13;0.14)				37			29		0	0	0.001512	0	0
NF1	4763	broad.mit.edu	37	17	29556131	29556131	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:29556131C>T	uc002hgg.3	+	20	2881	c.2498C>T	c.(2497-2499)tCc>tTc	p.S833F	NF1_uc002hgh.3_Missense_Mutation_p.S833F|NF1_uc010csn.2_Missense_Mutation_p.S693F|NF1_uc002hgi.1_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	833					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GACACAGACTCCCTACAGGAA	0.507000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				5			11		0	0	0.000673	0	0
MAP1B	4131	broad.mit.edu	37	5	71496071	71496071	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:71496071G>A	uc003kbw.4	+	4	7130	c.6889G>A	c.(6889-6891)Gaa>Aaa	p.E2297K	MAP1B_uc010iyw.1_Missense_Mutation_p.E2314K|MAP1B_uc010iyx.1_Missense_Mutation_p.E2171K|MAP1B_uc010iyy.1_Missense_Mutation_p.E2171K	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	2297						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AGAATCTGTGGAAAAGGCAGC	0.507000														58			59		0	0	0.003610	0	0
LMTK2	22853	broad.mit.edu	37	7	97823288	97823288	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:97823288T>A	uc003upd.2	+	10	3804	c.3511T>A	c.(3511-3513)Tcc>Acc	p.S1171T		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	Homo sapiens lemur tyrosine kinase 2 (LMTK2), mRNA.	1171					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	Golgi apparatus|early endosome|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TTTGCACAACTCCAGTGACCT	0.592000														21			28		0	0	0.001512	0	0
UGT2B4	7363	broad.mit.edu	37	4	70359495	70359495	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:70359495C>T	uc003hek.4	-	1	833	c.786G>A	c.(784-786)tgG>tgA	p.W262*	UGT2B4_uc011cap.2_Nonsense_Mutation_p.W126*|UGT2B4_uc003hel.4_Nonsense_Mutation_p.W262*	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	262					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						ATTGAAAATCCCAGTAGTTTC	0.423000														10			16		0	0	0.004007	0	0
SLC5A4	6527	broad.mit.edu	37	22	32631046	32631047	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:32631046_32631047GG>AA	uc003ami.3	-	7	700_701	c.698_699CC>TT	c.(697-699)acc>aTT	p.T233I		NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN	Homo sapiens solute carrier family 5 (low affinity glucose cotransporter), member 4 (SLC5A4), mRNA.	233					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CGTACTTCTCGGTAAAGCTCTC	0.455000														38			49		0	0	0.004672	0	0
CCDC129	223075	broad.mit.edu	37	7	31617984	31617984	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:31617984C>A	uc011kae.2	+	7	1196	c.1184C>A	c.(1183-1185)aCt>aAt	p.T395N	CCDC129_uc011kad.1_Missense_Mutation_p.T379N|CCDC129_uc003tcj.1_Missense_Mutation_p.T369N|CCDC129_uc003tci.1_Intron|CCDC129_uc003tck.1_Missense_Mutation_p.T277N	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.	369										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TTATTTCAGACTAACAAGCTC	0.517000														1			27		4.59853e-10	6.39496e-10	0.005443	1	0
SPATA16	83893	broad.mit.edu	37	3	172835237	172835237	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:172835237C>T	uc003fin.4	-	1	469	c.285G>A	c.(283-285)aaG>aaA	p.K95K		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	Homo sapiens spermatogenesis associated 16 (SPATA16), mRNA.	95					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding	p.K95N(2)		breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			TTGCCTGTTTCTTTCTAGTTG	0.388000														47			69		0	0	0.003610	0	0
GRIP2	80852	broad.mit.edu	37	3	14549103	14549103	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:14549103C>T	uc021wtn.1	-	19	2472	c.2472G>A	c.(2470-2472)gaG>gaA	p.E824E	GRIP2_uc010heh.3_Non-coding_Transcript	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA.	728					synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GTGTGACGGTCTCTCCAGCCA	0.602000														32			8		0	0	0.004482	0	0
OGT	8473	broad.mit.edu	37	X	70783276	70783276	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:70783276A>G	uc004eaa.2	+	17	2601	c.2363A>G	c.(2362-2364)gAa>gGa	p.E788G	BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.2_Missense_Mutation_p.E778G|OGT_uc004eac.3_Missense_Mutation_p.E649G|OGT_uc004ead.3_Missense_Mutation_p.E407G	NM_181672	NP_858058	O15294	OGT1_HUMAN	Homo sapiens O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase) (OGT), transcript variant 1, mRNA.	788					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	MLL5-L complex|cytosol	enzyme activator activity|protein N-acetylglucosaminyltransferase activity|protein binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					GCAGTTATTGAAATGATTAAC	0.363000														2			14		0	0	0.002450	0	0
TKTL2	84076	broad.mit.edu	37	4	164393517	164393517	+	Missense_Mutation	SNP	G	A	A	rs145423814		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:164393517G>A	uc003iqp.4	-	0	1531	c.1370C>T	c.(1369-1371)tCg>tTg	p.S457L		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	Homo sapiens transketolase-like 2 (TKTL2), mRNA.	457						cytoplasm	metal ion binding|transketolase activity	p.S457L(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ATGCTCTGTCGAGATGGCATC	0.463000														48			102		0	0	0.003610	0	0
IVL	3713	broad.mit.edu	37	1	152882714	152882714	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:152882714G>A	uc021ozl.1	+	0	441	c.441G>A	c.(439-441)atG>atA	p.M147I	IVL_uc001fau.3_Missense_Mutation_p.M147I	NM_005547	NP_005538	P07476	INVO_HUMAN	Homo sapiens involucrin (IVL), mRNA.	147					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AACTGGGAATGAAGAAAGAGC	0.532000														34			5		0	0	0.001984	0	0
POTEH	23784	broad.mit.edu	37	22	16266988	16266988	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:16266988C>T	uc010gqp.2	-	8	1513	c.1461G>A	c.(1459-1461)agG>agA	p.R487R	POTEH_uc002zlg.1_Non-coding_Transcript|POTEH_uc002zlh.1_Silent_p.R206R|POTEH_uc002zlj.1_Silent_p.R322R	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	487								p.R487K(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TTCTGCTTTTCCTTGGTGGAA	0.433000														154			21		0	0	0.003755	0	0
IGSF5	150084	broad.mit.edu	37	21	41164019	41164019	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr21:41164019G>A	uc002yyo.3	+	6	1144	c.1041G>A	c.(1039-1041)aaG>aaA	p.K347K		NM_001080444	NP_001073913	Q9NSI5	IGSF5_HUMAN	Homo sapiens immunoglobulin superfamily, member 5 (IGSF5), mRNA.	347						integral to membrane|tight junction				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				ATGAACAAAAGACCACAGGTG	0.443000														5			4		0	0	0.000248	0	0
TBC1D2	55357	broad.mit.edu	37	9	100995812	100995813	+	Missense_Mutation	DNP	GG	AA	AA	rs139045055		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:100995812_100995813GG>AA	uc011lvb.2	-	3	846_847	c.666_667CC>TT	c.(664-669)atccgt>atTTgt	p.R223C	TBC1D2_uc004ayq.3_Missense_Mutation_p.R223C|TBC1D2_uc004ayr.3_Missense_Mutation_p.R5C	NM_018421	NP_060891	Q9BYX2	TBD2A_HUMAN	Homo sapiens TBC1 domain family, member 2 (TBC1D2), mRNA.	223						cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		TTGTTGCCACGGATGTTGTGCA	0.584000														29			47		0	0	0.004672	0	0
FMN2	56776	broad.mit.edu	37	1	240256544	240256545	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:240256544_240256545GG>AA	uc010pye.2	+	0	1360_1361	c.1135_1136GG>AA	c.(1135-1137)ggg>AAg	p.G379K	FMN2_uc010pyd.2_Missense_Mutation_p.G379K	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	379					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GCAGAGGCTGGGGGAAGAGCCG	0.728000														1			10		0	0	0.004672	0	0
ABCC1	4363	broad.mit.edu	37	16	16200668	16200668	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:16200668G>A	uc010bvi.3	+	20	2984	c.2809G>A	c.(2809-2811)Gct>Act	p.A937T	ABCC1_uc010bvj.3_Missense_Mutation_p.A878T|ABCC1_uc010bvk.3_Missense_Mutation_p.A881T|ABCC1_uc010bvl.3_Missense_Mutation_p.A937T|ABCC1_uc010bvm.3_Missense_Mutation_p.A822T|ABCC1_uc002del.4_Missense_Mutation_p.A831T	NM_004996	NP_004987	P33527	MRP1_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA.	937					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	ACTGCAGAAAGCTGAGGCCAA	0.562000														25			30		0	0	0.003755	0	0
DPPA2	151871	broad.mit.edu	37	3	109028037	109028037	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:109028037C>A	uc003dxo.3	-	3	569	c.322G>T	c.(322-324)Ggt>Tgt	p.G108C		NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN	Homo sapiens developmental pluripotency associated 2 (DPPA2), mRNA.	108	SAP.					nucleus	nucleic acid binding	p.L107L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTACTCAAACCGAGTTGTTGA	0.438000														186			6		0.00198382	0.00272959	0.001984	1	0
CTAGE10P	220429	broad.mit.edu	37	13	50466937	50466938	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:50466937_50466938GG>AA	uc001vdk.2	+	0	2393_2394	c.2211_2212GG>AA	c.(2209-2214)agggat>agAAat	p.D738N						Homo sapiens CTAGE family, member 10, pseudogene (CTAGE10P), non-coding RNA.																		TTCCACCAAGGGATGTCCCAGG	0.540000														39			21		0	0	0.004672	0	0
WDR62	284403	broad.mit.edu	37	19	36581413	36581413	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:36581413C>T	uc002odd.2	+	15	2116	c.2025C>T	c.(2023-2025)tcC>tcT	p.S675S	WDR62_uc002odc.2_Silent_p.S675S	NM_001083961	NP_001077430	O43379	WDR62_HUMAN	Homo sapiens WD repeat domain 62 (WDR62), transcript variant 1, mRNA.	675					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ACGAAGGGTCCTTGCTGAAGG	0.592000														25			22		0	0	0.002780	0	0
CMYA5	202333	broad.mit.edu	37	5	79028970	79028970	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:79028970C>T	uc003kgc.3	+	1	4454	c.4382C>T	c.(4381-4383)tCa>tTa	p.S1461L		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	1461						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TCTGTTTTGTCAGAAGTAGAA	0.383000														15			21		0	0	0.002299	0	0
LNX1	84708	broad.mit.edu	37	4	54440097	54440097	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:54440097C>T	uc003hag.4	-	1	329	c.73G>A	c.(73-75)Gaa>Aaa	p.E25K	PDGFRA_uc003haa.3_Intron|LNX1_uc003hah.4_Non-coding_Transcript	NM_001126328	NP_001119800	Q8TBB1	LNX1_HUMAN	Homo sapiens ligand of numb-protein X 1 (LNX1), transcript variant 1, mRNA.	25						cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			AAGTGGTTTTCCTCCAAGGAG	0.542000														11			8		0	0	0.006214	0	0
SRPK1	6732	broad.mit.edu	37	6	35836854	35836854	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:35836854G>A	uc003olj.3	-	11	1569	c.1445C>T	c.(1444-1446)cCc>cTc	p.P482L	SRPK1_uc003olh.3_Missense_Mutation_p.P375L|SRPK1_uc003oli.3_Missense_Mutation_p.P375L|SRPK1_uc011dtg.2_Missense_Mutation_p.P466L	NM_003137	NP_003128	Q96SB4	SRPK1_HUMAN	Homo sapiens SRSF protein kinase 1 (SRPK1), transcript variant 1, mRNA.	482	Protein kinase.				RNA splicing|cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						TGGCTCAAGGGGATTAACAAG	0.383000														16			6		0	0	0.001168	0	0
ISM2	145501	broad.mit.edu	37	14	77951262	77951263	+	Splice_Site	DNP	CC	TT	TT			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:77951262_77951263CC>TT	uc001xtz.3	-	2	216	c.142_splice	c.e2-1	p.V48_splice	ISM2_uc001xua.3_Splice_Site_p.V48_splice|ISM2_uc001xty.3_Splice_Site	NM_199296	NP_954993	Q6H9L7	ISM2_HUMAN	Homo sapiens isthmin 2 homolog (zebrafish) (ISM2), transcript variant 1, mRNA.	48						extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						GAGGCTGAGACCTGAGGGAGAG	0.619000														31			20		0	0	0.004672	0	0
CCDC19	25790	broad.mit.edu	37	1	159842846	159842846	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:159842846C>T	uc001fui.3	-	10	1483	c.1465G>A	c.(1465-1467)Gaa>Aaa	p.E489K	CCDC19_uc009wtb.3_Non-coding_Transcript|CCDC19_uc001fuk.3_Missense_Mutation_p.E404K|CCDC19_uc001fuj.3_Non-coding_Transcript	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	Homo sapiens coiled-coil domain containing 19 (CCDC19), mRNA.	489						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			TTCTGCACTTCCTTCTGCTGG	0.587000														49			9		0	0	0.000673	0	0
PDP1	54704	broad.mit.edu	37	8	94934619	94934619	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:94934619G>A	uc011lgn.2	+	1	558	c.509G>A	c.(508-510)gGa>gAa	p.G170E	PDP1_uc003ygf.3_Missense_Mutation_p.G136E|PDP1_uc003yge.3_Missense_Mutation_p.G111E|PDP1_uc010max.3_Missense_Mutation_p.G136E|PDP1_uc011lgm.2_Missense_Mutation_p.G111E|PDP1_uc022ayg.1_Missense_Mutation_p.G111E	NM_001161778	NP_001155250	Q9P0J1	PDP1_HUMAN	Homo sapiens pyruvate dehyrogenase phosphatase catalytic subunit 1 (PDP1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	111					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						TCTATCCTTGGATTTGACAGC	0.448000														18			33		0	0	0.002096	0	0
SSFA2	6744	broad.mit.edu	37	2	182780784	182780784	+	Missense_Mutation	SNP	C	T	T	rs147488067	byFrequency	TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:182780784C>T	uc002uoi.3	+	10	2739	c.2417C>T	c.(2416-2418)tCt>tTt	p.S806F	SSFA2_uc002uoh.3_Missense_Mutation_p.S806F|SSFA2_uc002uoj.3_Missense_Mutation_p.S806F|SSFA2_uc002uok.3_Non-coding_Transcript|SSFA2_uc010zfo.2_Missense_Mutation_p.S653F|SSFA2_uc002uol.3_Missense_Mutation_p.S653F|SSFA2_uc002uom.3_Missense_Mutation_p.S274F	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	Homo sapiens sperm specific antigen 2 (SSFA2), transcript variant 1, mRNA.	806						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TCTCCATCATCTGTGAAGAAA	0.498000														26			11		0	0	0.001855	0	0
ZSCAN5A	79149	broad.mit.edu	37	19	56733215	56733215	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:56733215G>A	uc002qmq.3	-	4	1386	c.1220C>T	c.(1219-1221)aCt>aTt	p.T407I	ZSCAN5A_uc010ygi.2_Missense_Mutation_p.T290I|ZSCAN5A_uc002qmr.3_Missense_Mutation_p.T407I|ZSCAN5A_uc002qms.1_Missense_Mutation_p.T406I	NM_024303	NP_077279	Q9BUG6	ZSA5A_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5A (ZSCAN5A), mRNA.	407					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CCTCTCGCCAGTGTGGGTTCG	0.522000														10			8		0	0	0.004482	0	0
BAI3	577	broad.mit.edu	37	6	69703688	69703688	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:69703688G>A	uc010kak.3	+	9	2039	c.1763G>A	c.(1762-1764)cGa>cAa	p.R588Q	BAI3_uc003pev.4_Missense_Mutation_p.R588Q	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	588					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R588P(2)|p.R588Q(2)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AAGGGGCAGCGAATGCTGGCA	0.418000														54			49		0	0	0.003610	0	0
SFRP2	6423	broad.mit.edu	37	4	154702739	154702739	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:154702739T>C	uc003inv.1	-	2	993	c.752A>G	c.(751-753)aAc>aGc	p.N251S		NM_003013	NP_003004	Q96HF1	SFRP2_HUMAN	Homo sapiens secreted frizzled-related protein 2 (SFRP2), mRNA.	251	NTR.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding|fibronectin binding|integrin binding|receptor agonist activity			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				GTTGATGTCGTTCATCTCCTC	0.547000														52			20		0	0	0.001882	0	0
C15orf42	90381	broad.mit.edu	37	15	90128992	90128992	+	Silent	SNP	C	T	T	rs144998725	by1000genomes	TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:90128992C>T	uc002boe.3	+	3	1230	c.1230C>T	c.(1228-1230)tcC>tcT	p.S410S	C15orf42_uc021sug.1_Silent_p.S409S	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	Homo sapiens chromosome 15 open reading frame 42 (C15orf42), mRNA.	410					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)			GAGTTATTTCCCCACTCTCTG	0.527000														12			17		0	0	0.007413	0	0
PCDHB11	56125	broad.mit.edu	37	5	140579977	140579977	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:140579977C>T	uc003liy.3	+	0	630	c.630C>T	c.(628-630)ttC>ttT	p.F210F		NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	Homo sapiens protocadherin beta 11 (PCDHB11), mRNA.	210	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCTCAGTTTCATCCTCTCTG	0.493000														17			19		0	0	0.001216	0	0
ZNF391	346157	broad.mit.edu	37	6	27368998	27368998	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:27368998G>A	uc003njf.1	+	2	1367	c.849G>A	c.(847-849)ggG>ggA	p.G283G	ZNF391_uc021ypw.1_Silent_p.G283G	NM_001076781	NP_001070249	Q9UJN7	ZN391_HUMAN	Homo sapiens zinc finger protein 391 (ZNF391), mRNA.	283					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						GTGAATGTGGGAAAGTGTTCA	0.463000														7			14		0	0	0.002450	0	0
C2orf70	339778	broad.mit.edu	37	2	26800493	26800493	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:26800493T>A	uc010eyn.3	+	2	458	c.458T>A	c.(457-459)gTc>gAc	p.V153D		NM_001105519	NP_001098989	A6NJV1	CB070_HUMAN	Homo sapiens chromosome 2 open reading frame 70 (C2orf70), mRNA.	153										breast(3)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	13						CTCCCCACCGTCCTGTGAGTG	0.602000											OREG0014506	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		24			9		0	0	0.006214	0	0
TRANK1	9881	broad.mit.edu	37	3	36898526	36898526	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:36898526C>T	uc003cgj.3	-	11	2803	c.2555G>A	c.(2554-2556)gGa>gAa	p.G852E		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	852					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CATCCGGGCTCCTTTGTCCAG	0.562000														9			9		0	0	0.006214	0	0
ASXL3	80816	broad.mit.edu	37	18	31324796	31324796	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:31324796A>G	uc010dmg.1	+	11	5039	c.4984A>G	c.(4984-4986)Aca>Gca	p.T1662A	ASXL3_uc002kxq.2_Missense_Mutation_p.T1369A	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1662					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GAATCTTGTAACAAATGTTGC	0.448000														15			14		0	0	0.004007	0	0
KIAA0319	9856	broad.mit.edu	37	6	24551711	24551711	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:24551711G>A	uc011djo.2	-	19	3491	c.2991C>T	c.(2989-2991)atC>atT	p.I997I	KIAA0319_uc011djp.2_Silent_p.I952I|KIAA0319_uc003neh.1_Silent_p.I997I|KIAA0319_uc011djq.1_Silent_p.I988I|KIAA0319_uc011djr.1_Intron|KIAA0319_uc010jpt.1_Silent_p.I408I	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	997					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						TGTTATCCAGGATGGTGTACT	0.388000														22			9		0	0	0.004482	0	0
SARDH	1757	broad.mit.edu	37	9	136594946	136594947	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:136594946_136594947CC>TT	uc004cep.4	-	5	989_990	c.855_856GG>AA	c.(853-858)aaggtc>aaAAtc	p.V286I	SARDH_uc004ceo.3_Missense_Mutation_p.V286I|SARDH_uc011mdo.2_Missense_Mutation_p.V118I|SARDH_uc011mdn.2_Missense_Mutation_p.V286I	NM_001134707	NP_009032	Q9UL12	SARDH_HUMAN	Homo sapiens sarcosine dehydrogenase (SARDH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	286					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		ACCAGCGGGACCTTGACTCCAG	0.644000														33			9		0	0	0.004672	0	0
TAS2R1	50834	broad.mit.edu	37	5	9629688	9629688	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:9629688G>A	uc003jem.1	-	0	776	c.457C>T	c.(457-459)Cca>Tca	p.P153S		NM_019599	NP_062545	Q9NYW7	TA2R1_HUMAN	Homo sapiens taste receptor, type 2, member 1 (TAS2R1), mRNA.	153					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						AGGAAGTATGGGACCATAAAC	0.403000														25			23		0	0	0.003330	0	0
OR10S1	219873	broad.mit.edu	37	11	123847875	123847875	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:123847875G>A	uc001pzm.1	-	0	524	c.524C>T	c.(523-525)tCc>tTc	p.S175F		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily S, member 1 (OR10S1), mRNA.	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GAAGGTGAGGGAGGTGTGGAT	0.567000														25			14		0	0	0.003163	0	0
VEGFA	7422	broad.mit.edu	37	6	43745274	43745274	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:43745274C>T	uc003owh.3	+	2	1225	c.727C>T	c.(727-729)Cag>Tag	p.Q243*	VEGFA_uc003owb.3_Nonsense_Mutation_p.Q63*|VEGFA_uc003owd.3_Nonsense_Mutation_p.Q243*|VEGFA_uc010jyx.3_Nonsense_Mutation_p.Q243*|VEGFA_uc003owf.3_Nonsense_Mutation_p.Q243*|VEGFA_uc003owg.3_Nonsense_Mutation_p.Q243*|VEGFA_uc003owe.3_Nonsense_Mutation_p.Q243*|VEGFA_uc021yzu.1_Nonsense_Mutation_p.Q242*|VEGFA_uc003owj.3_Nonsense_Mutation_p.Q243*|VEGFA_uc003owi.3_Nonsense_Mutation_p.Q243*|VEGFA_uc003owk.3_5'Flank|VEGFA_uc021yzv.1_5'Flank	NM_001171623	NP_001165094	P15692	VEGFA_HUMAN	Homo sapiens vascular endothelial growth factor A (VEGFA), transcript variant 1, mRNA.	63					basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis	cell surface|extracellular space|membrane|platelet alpha granule lumen	cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641)	GGACATCTTCCAGGAGTACCC	0.567000														25			27		0	0	0.003954	0	0
CYP2C8	1558	broad.mit.edu	37	10	96827077	96827077	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:96827077G>A	uc001kkb.3	-	2	464	c.369C>T	c.(367-369)atC>atT	p.I123I	CYP2C8_uc010qoa.2_Silent_p.I53I|CYP2C8_uc010qoc.2_Silent_p.I21I|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_Silent_p.I37I|CYP2C8_uc021pwl.1_Silent_p.I53I|CYP2C8_uc010qod.1_Silent_p.I37I	NM_000770	NP_000761	P10632	CP2C8_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	123					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)	AGAAACGCCGGATCTCCTTCC	0.483000														27			22		0	0	0.001882	0	0
SLC34A3	142680	broad.mit.edu	37	9	140130597	140130597	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:140130597G>A	uc022bqf.1	+	12	1750	c.1529G>A	c.(1528-1530)gGg>gAg	p.G510E	SLC34A3_uc011met.2_Missense_Mutation_p.G510E|SLC34A3_uc004cmf.1_Missense_Mutation_p.G510E	NM_001177316	NP_543153	Q8N130	NPT2C_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 3 (SLC34A3), transcript variant 1, mRNA.	510					cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TCCCTGGCAGGGGGCATGGAG	0.716000											OREG0019630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		4			9		0	0	0.004482	0	0
PARD6G	84552	broad.mit.edu	37	18	77918229	77918229	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:77918229C>T	uc002lny.3	-	2	722	c.556G>A	c.(556-558)Ggg>Agg	p.G186R	LOC100130522_uc002lnx.2_Intron|LOC100130522_uc010xfo.2_Intron	NM_032510	NP_115899	Q9BYG4	PAR6G_HUMAN	Homo sapiens par-6 partitioning defective 6 homolog gamma (C. elegans) (PARD6G), mRNA.	186	Interaction with PARD3 and CDC42 (By similarity).|PDZ.				cell cycle|cell division|tight junction assembly	cytosol|tight junction	protein binding	p.H185H(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	8		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)		TTCTCCAGCCCGTGCGGGGTC	0.706000														26			8		0	0	0.004482	0	0
TMEM26	219623	broad.mit.edu	37	10	63188866	63188866	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:63188866C>T	uc001jlo.2	-	3	792	c.423G>A	c.(421-423)gaG>gaA	p.E141E	TMEM26_uc001jlq.3_Non-coding_Transcript	NM_178505	NP_848600	Q6ZUK4	TMM26_HUMAN	Homo sapiens transmembrane protein 26 (TMEM26), mRNA.	141						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					TCCAAACTTTCTCACATACTG	0.398000														9			10		0	0	0.000673	0	0
GDE1	51573	broad.mit.edu	37	16	19516203	19516203	+	Splice_Site	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:19516203G>A	uc002dgh.3	-	5	1012	c.848_splice	c.e5+1	p.P283_splice	GDE1_uc002dgi.3_Splice_Site_p.P173_splice	NM_016641	NP_057725	Q9NZC3	GDE1_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase 1 (GDE1), mRNA.	283	GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol glycerophosphodiesterase activity|metal ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	13						TCCAACTTACGGGGATACAAA	0.388000														15			17		0	0	0.006122	0	0
CDH18	1016	broad.mit.edu	37	5	19473339	19473339	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:19473339G>A	uc003jgd.3	-	12	2903	c.2369C>T	c.(2368-2370)aCt>aTt	p.T790I	CDH18_uc011cnm.2_3'UTR|CDH18_uc003jgc.3_Missense_Mutation_p.T790I|CDH18_uc021xwu.1_3'UTR	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	790					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GACCCCCTAAGTTGTTCTTTC	0.428000														22			9		0	0	0.000978	0	0
ADAM18	8749	broad.mit.edu	37	8	39467071	39467071	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:39467071C>T	uc003xni.3	+	4	390	c.335C>T	c.(334-336)tCt>tTt	p.S112F	ADAM18_uc003xnh.3_Missense_Mutation_p.S112F|ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.S112F	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	112					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			AGTATATGTTCTGGTCTCAGG	0.343000														3			3		0	0	0.000248	0	0
OR1L6	392390	broad.mit.edu	37	9	125512268	125512268	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:125512268C>T	uc022bna.1	+	0	142	c.142C>T	c.(142-144)Ccg>Tcg	p.P48S		NM_001004453	NP_001004453	Q8NGR2	OR1L6_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 6 (OR1L6), mRNA.	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						GCTCATCATCCCGGCCATCTA	0.517000														59			22		0	0	0.002780	0	0
MUC16	94025	broad.mit.edu	37	19	9071595	9071595	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:9071595A>G	uc002mkp.3	-	2	16055	c.15851T>C	c.(15850-15852)cTt>cCt	p.L5284P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5286	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						GTCCAAGGGAAGGGTACTGTG	0.517000														13			13		0	0	0.003163	0	0
TRPV4	59341	broad.mit.edu	37	12	110236612	110236612	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:110236612C>T	uc001tpj.2	-	4	1054	c.959G>A	c.(958-960)cGa>cAa	p.R320Q	TRPV4_uc001tpg.2_Missense_Mutation_p.R286Q|TRPV4_uc021rdp.1_Missense_Mutation_p.R320Q|TRPV4_uc001tph.2_Missense_Mutation_p.R273Q|TRPV4_uc001tpi.2_Missense_Mutation_p.R273Q|TRPV4_uc001tpk.2_Missense_Mutation_p.R320Q	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA.	320					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	SH2 domain binding|actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						TGTGTTGCCTCGCGAGTCCTG	0.592000														31			11		0	0	0.000978	0	0
TCRBV3S1	0	broad.mit.edu	37	7	142428886	142428886	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:142428886G>A	uc011ksk.1	+	1	263	c.246G>A	c.(244-246)ggG>ggA	p.G82G	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Silent_p.G37G					SubName: Full=V_segment translation product; Flags: Fragment;																		TTCCTGAGGGGTACAGTGTCT	0.458000														14			17		0	0	0.004990	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25255427	25255427	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:25255427A>G	uc002dod.4	-	5	2067	c.1660T>C	c.(1660-1662)Ttc>Ctc	p.F554L	ZKSCAN2_uc010vcl.2_Missense_Mutation_p.F350L	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 2 (ZKSCAN2), mRNA.	554					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.K553N(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		AGGCTTTTGAACTTGGTTCGG	0.527000														37			20		0	0	0.002780	0	0
WDR96	80217	broad.mit.edu	37	10	105900683	105900683	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:105900683C>T	uc001kxw.3	-	33	4464	c.4348G>A	c.(4348-4350)Gaa>Aaa	p.E1450K	WDR96_uc009xxq.3_Missense_Mutation_p.E729K	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	Homo sapiens WD repeat domain 96 (WDR96), mRNA.	1450										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TGGAAATTTTCCAGTTCTACT	0.328000														24			16		0	0	0.004990	0	0
OR6C68	403284	broad.mit.edu	37	12	55886657	55886657	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:55886657T>C	uc010spo.2	+	0	511	c.511T>C	c.(511-513)Ttc>Ctc	p.F171L		NM_001005519	NP_001005519	A6NDL8	O6C68_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 68 (OR6C68), mRNA.	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						TCATCTAGAATTCTGTGACTC	0.383000														20			17		0	0	0.001216	0	0
MYH4	4622	broad.mit.edu	37	17	10351389	10351389	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:10351389G>A	uc002gmn.3	-	33	4822	c.4711C>T	c.(4711-4713)Cag>Tag	p.Q1571*	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1571					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			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						GATTTCACCTGATTTAGCTCA	0.368000														24			12		0	0	0.001368	0	0
ATXN2L	11273	broad.mit.edu	37	16	28841346	28841346	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:28841346G>A	uc002dqy.3	+	7	1168	c.1001G>A	c.(1000-1002)gGc>gAc	p.G334D	NPIPL1_uc010vct.2_Intron|ATXN2L_uc010byl.1_Missense_Mutation_p.G334D|ATXN2L_uc002dqz.3_Missense_Mutation_p.G334D|ATXN2L_uc002dra.3_Missense_Mutation_p.G334D|ATXN2L_uc002drb.3_Missense_Mutation_p.G334D|ATXN2L_uc002drc.3_Missense_Mutation_p.G334D|ATXN2L_uc010vdb.2_Missense_Mutation_p.G334D|ATXN2L_uc002dre.3_Missense_Mutation_p.G334D|ATXN2L_uc002drf.3_5'UTR	NM_148414	NP_680780	Q8WWM7	ATX2L_HUMAN	Homo sapiens ataxin 2-like (ATXN2L), transcript variant C, mRNA.	334						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CAGCGGCAGGGCTCAGGGCGG	0.612000														14			7		0	0	0.003080	0	0
NIM1	167359	broad.mit.edu	37	5	43280085	43280085	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:43280085G>A	uc003jno.3	+	3	1446	c.565G>A	c.(565-567)Gaa>Aaa	p.E189K		NM_153361	NP_699192	Q8IY84	NIM1_HUMAN	Homo sapiens serine/threonine-protein kinase NIM1 (NIM1), mRNA.	189	Protein kinase.						ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.E189*(1)									TCCACAGCATGAAAACCAAAT	0.338000														34			9		0	0	0.004482	0	0
DNAH3	55567	broad.mit.edu	37	16	21080784	21080784	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:21080784C>T	uc010vbe.2	-	22	3333	c.3333G>A	c.(3331-3333)agG>agA	p.R1111R		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1111	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGCCAAATTTCCTCCCCTCTT	0.428000														38			32		0	0	0.002445	0	0
ZNF318	24149	broad.mit.edu	37	6	43305569	43305569	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:43305569G>A	uc003oux.3	-	9	6245	c.6167C>T	c.(6166-6168)tCc>tTc	p.S2056F	ZNF318_uc003ouw.3_Intron	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Homo sapiens zinc finger protein 318 (ZNF318), mRNA.	2056					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GGGATCGGAGGAATTACACCC	0.463000														24			27		0	0	0.005443	0	0
NCOA1	8648	broad.mit.edu	37	2	24930584	24930584	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:24930584C>T	uc002rfk.3	+	10	2504	c.2245C>T	c.(2245-2247)Cta>Tta	p.L749L	NCOA1_uc010eye.3_Silent_p.L749L|NCOA1_uc002rfi.3_Silent_p.L598L|NCOA1_uc002rfj.3_Silent_p.L749L|NCOA1_uc002rfl.3_Silent_p.L749L	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	Homo sapiens nuclear receptor coactivator 1 (NCOA1), transcript variant 1, mRNA.	749									PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCATCAGCTCCTACGCTATCT	0.378000			T	PAX3	alveolar rhadomyosarcoma									18			14		0	0	0.002450	0	0
NETO1	81832	broad.mit.edu	37	18	70417358	70417358	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:70417358C>T	uc002lkw.3	-	8	1764	c.1480G>A	c.(1480-1482)Gaa>Aaa	p.E494K	NETO1_uc002lky.2_Missense_Mutation_p.E494K	NM_001201465	NP_001188394	Q8TDF5	NETO1_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA.	494					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TCTTCGATTTCATCTATGTCA	0.473000														13			7		0	0	0.003080	0	0
DMRT3	58524	broad.mit.edu	37	9	990288	990288	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:990288C>T	uc003zgw.1	+	1	740	c.702C>T	c.(700-702)ggC>ggT	p.G234G		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	Homo sapiens doublesex and mab-3 related transcription factor 3 (DMRT3), mRNA.	234					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		TGATTGAGGGCCCCTCGGGGA	0.567000														19			25		0	0	0.005443	0	0
PTCH2	8643	broad.mit.edu	37	1	45294203	45294203	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:45294203G>A	uc010olf.2	-	11	1577	c.1565C>T	c.(1564-1566)cCt>cTt	p.P522L	PTCH2_uc021omv.1_Missense_Mutation_p.P522L|PTCH2_uc010olg.2_Missense_Mutation_p.P220L	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA.	522	SSD.				protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					TCGCAGCGCAGGGATGGGAAC	0.632000									Basal Cell Nevus syndrome					24			4		0	0	0.000248	0	0
SEMA4A	64218	broad.mit.edu	37	1	156146617	156146617	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:156146617C>T	uc001fnl.3	+	14	2294	c.2115C>T	c.(2113-2115)tcC>tcT	p.S705S	SEMA4A_uc009wrq.3_Silent_p.S705S|SEMA4A_uc001fnm.3_Silent_p.S705S|SEMA4A_uc001fnn.3_Silent_p.S573S|SEMA4A_uc001fno.3_Silent_p.S705S	NM_001193301	NP_071762	Q9H3S1	SEM4A_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A (SEMA4A), transcript variant 3, mRNA.	705					axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					TCGTGGCCTCCCCATTGAGAG	0.622000														34			14		0	0	0.002450	0	0
RMND5B	64777	broad.mit.edu	37	5	177565240	177565240	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:177565240G>A	uc011dgf.2	+	0	132	c.120G>A	c.(118-120)cgG>cgA	p.R40R	RMND5B_uc003mim.3_Silent_p.R40R|RMND5B_uc003min.3_Silent_p.R40R|RMND5B_uc003mio.3_Intron	NM_022762	NP_073599	Q96G75	RMD5B_HUMAN	Homo sapiens required for meiotic nuclear division 5 homolog B (S. cerevisiae) (RMND5B), mRNA.	40								p.R40L(1)		endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCAGCTGCGGGCTGAGCTGG	0.642000														7			15		0	0	0.007413	0	0
PHKB	5257	broad.mit.edu	37	16	47723057	47723057	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:47723057G>A	uc002eev.4	+	26	2788	c.2736G>A	c.(2734-2736)ctG>ctA	p.L912L	PHKB_uc002eeu.4_Silent_p.L905L|PHKB_uc002eew.4_Silent_p.L153L	NM_000293	NP_000284	Q93100	KPBB_HUMAN	Homo sapiens phosphorylase kinase, beta (PHKB), transcript variant 1, mRNA.	912					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				AGCTTCTGCTGGATATTCTGC	0.428000														2			22		0	0	0.003330	0	0
DNAH8	1769	broad.mit.edu	37	6	38951982	38951982	+	Splice_Site	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:38951982G>A	uc021yzh.1	+	87	13061	c.12952_splice	c.e87-1	p.G4318_splice	DNAH8_uc003ooe.2_Splice_Site_p.G4101_splice|DNAH8_uc003oog.1_Splice_Site_p.G550_splice	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTTAATAAAGGGTGTATCATG	0.383000														14			16		0	0	0.006122	0	0
SEC24B	10427	broad.mit.edu	37	4	110415979	110415979	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:110415979C>T	uc003hzk.3	+	5	1510	c.1455C>T	c.(1453-1455)aaC>aaT	p.N485N	SEC24B_uc003hzl.3_Silent_p.N450N|SEC24B_uc011cfp.2_Silent_p.N516N|SEC24B_uc011cfq.2_Silent_p.N485N|SEC24B_uc011cfr.2_Silent_p.N450N	NM_006323	NP_006314	O95487	SC24B_HUMAN	Homo sapiens SEC24 family, member B (S. cerevisiae) (SEC24B), transcript variant 1, mRNA.	485					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		AGCCCAGTAACCCGGTATATT	0.403000														56			41		0	0	0.002852	0	0
MMRN1	22915	broad.mit.edu	37	4	90857593	90857593	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:90857593A>G	uc003hst.3	+	5	2833	c.2762A>G	c.(2761-2763)aAc>aGc	p.N921S	MMRN1_uc010iku.3_Intron|MMRN1_uc011cds.2_Missense_Mutation_p.N663S	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	Homo sapiens multimerin 1 (MMRN1), mRNA.	921					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TTTTCGCTTAACAAAACTCTC	0.378000														12			3		0	0	0.004672	0	0
TCRBV20S1	0	broad.mit.edu	37	7	142032452	142032452	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:142032452G>A	uc011krs.1	+	1	305	c.272G>A	c.(271-273)gGa>gAa	p.G91E	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron					Homo sapiens mRNA for T cell receptor V beta6-D-J, partial cds.																		AGGTCTGAGGGATCCATCTCC	0.572000														6			7		0	0	0.001984	0	0
NRXN1	9378	broad.mit.edu	37	2	51254830	51254830	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:51254830G>A	uc021vhh.1	-	0	1503	c.582C>T	c.(580-582)gtC>gtT	p.V194V	NRXN1_uc021vhg.1_Silent_p.V194V|NRXN1_uc021vhi.1_Silent_p.V194V|NRXN1_uc021vhj.1_Silent_p.V194V|NRXN1_uc021vhk.1_Silent_p.V194V	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	194	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CCACGGGCAGGACCTGCGAGG	0.711000														6			4		0	0	0.001168	0	0
GRK1	6011	broad.mit.edu	37	13	114322262	114322262	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:114322262G>A	uc010tkf.2	+	0	666	c.561G>A	c.(559-561)gaG>gaA	p.E187E		NM_002929	NP_002920	Q15835	RK_HUMAN	Homo sapiens G protein-coupled receptor kinase 1 (GRK1), mRNA.	187	N-terminal.				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			CCATGGGGGAGGACTGGTTCC	0.632000														10			4		0	0	0.000248	0	0
RELN	5649	broad.mit.edu	37	7	103214737	103214737	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:103214737C>T	uc022ajr.1	-	29	4473	c.4313G>A	c.(4312-4314)gGa>gAa	p.G1438E	RELN_uc022ajq.1_Missense_Mutation_p.G1438E|RELN_uc010liz.3_Missense_Mutation_p.G1438E	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	1438	EGF-like 3.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CACACAGGTTCCTTGTGCAGC	0.448000														30			15		0	0	0.006122	0	0
CHRNA4	1137	broad.mit.edu	37	20	61978120	61978120	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:61978120G>A	uc002yes.2	-	5	2032	c.1854C>T	c.(1852-1854)ttC>ttT	p.F618F	CHRNA4_uc002yet.1_Silent_p.F442F|CHRNA4_uc010gke.1_Silent_p.F547F|CHRNA4_uc002yev.1_Silent_p.F442F|CHRNA4_uc010gkf.1_Silent_p.F442F	NM_000744	NP_000735	P43681	ACHA4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 4 (CHRNA4), mRNA.	618					B cell activation|DNA repair|behavioral response to nicotine|calcium ion transport|cognition|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	AGGGCGGCAGGAAGAGGCCCA	0.662000														16			13		0	0	0.001368	0	0
ZC3H3	23144	broad.mit.edu	37	8	144590010	144590010	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:144590010G>A	uc003yyd.2	-	3	1650	c.1621C>T	c.(1621-1623)Cgc>Tgc	p.R541C		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	Homo sapiens zinc finger CCCH-type containing 3 (ZC3H3), mRNA.	541					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			TTGACAATGCGGTAGCGGGTC	0.652000														27			44		0	0	0.003610	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8645813	8645813	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:8645813G>A	uc002mkj.1	-	25	3550	c.3276C>T	c.(3274-3276)ttC>ttT	p.F1092F	ADAMTS10_uc002mki.1_Silent_p.F579F	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	1092	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						ACATCTGGCGGAAGTAGGCTC	0.652000											OREG0025220	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		12			9		0	0	0.006214	0	0
BAG2	9532	broad.mit.edu	37	6	57048591	57048591	+	Nonsense_Mutation	SNP	T	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:57048591T>G	uc003pdr.3	+	2	631	c.239T>G	c.(238-240)tTa>tGa	p.L80*	BAG2_uc011dxo.2_Nonsense_Mutation_p.L47*	NM_004282	NP_004273	O95816	BAG2_HUMAN	Homo sapiens BCL2-associated athanogene 2 (BAG2), mRNA.	80					apoptosis|protein folding		protein binding			endometrium(1)|large_intestine(1)	2	Lung NSC(77;0.126)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AGAGAAGAATTAAATCTGACT	0.353000														27			22		0	0	0.007291	0	0
C15orf2	23742	broad.mit.edu	37	15	24921531	24921531	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:24921531G>A	uc001ywo.3	+	0	991	c.517G>A	c.(517-519)Gat>Aat	p.D173N		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	173					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CGAAGGGGAGGATGACGAGAA	0.622000														10			13		0	0	0.001368	0	0
SOS2	6655	broad.mit.edu	37	14	50626282	50626283	+	Missense_Mutation	DNP	AT	GA	GA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:50626282_50626283AT>GA	uc001wxs.4	-	9	1816_1817	c.1718_1719AT>TC	c.(1717-1719)tat>tTC	p.Y573F	SOS2_uc010tql.2_Missense_Mutation_p.Y540F|SOS2_uc010tqm.1_Non-coding_Transcript|SOS2_uc001wxt.2_Missense_Mutation_p.Y261F	NM_006939	NP_008870	Q07890	SOS2_HUMAN	Homo sapiens son of sevenless homolog 2 (Drosophila) (SOS2), mRNA.	573					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|Rho guanyl-nucleotide exchange factor activity|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					CTACAAAACGATATACTTCAGG	0.342000														59			37		0	0	0.004672	0	0
FREM1	158326	broad.mit.edu	37	9	14737436	14737436	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:14737436C>T	uc003zlm.3	-	37	7314	c.6498G>A	c.(6496-6498)agG>agA	p.R2166R	FREM1_uc010mic.3_Non-coding_Transcript|FREM1_uc003zlk.3_Non-coding_Transcript|FREM1_uc003zll.3_Silent_p.R702R	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	2166	C-type lectin.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GTTTGGCTCTCCTACAGTCTT	0.453000														14			12		0	0	0.003163	0	0
CDH10	1008	broad.mit.edu	37	5	24593569	24593569	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:24593569G>A	uc003jgr.2	-	1	537	c.31C>T	c.(31-33)Cta>Tta	p.L11L	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	11					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ACCCAGAATAGAAACAGTAGC	0.408000										HNSCC(23;0.051)				7			6		0	0	0.001984	0	0
TRANK1	9881	broad.mit.edu	37	3	36897155	36897155	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:36897155A>T	uc003cgj.3	-	11	4174	c.3926T>A	c.(3925-3927)tTt>tAt	p.F1309Y		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1309					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ACCCTTTAGAAAAGATTTTAT	0.428000														38			66		0	0	0.003610	0	0
DOCK3	1795	broad.mit.edu	37	3	51378771	51378771	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:51378771G>A	uc011bds.2	+	37	3893	c.3870G>A	c.(3868-3870)aaG>aaA	p.K1290K		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	1290	DHR-2.					cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GGCAGCGGAAGGAGGGACTGT	0.547000														10			9		0	0	0.000673	0	0
EPHA7	2045	broad.mit.edu	37	6	93982049	93982049	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:93982049G>A	uc003poe.3	-	5	1657	c.1416C>T	c.(1414-1416)gtC>gtT	p.V472V	EPHA7_uc003pof.3_Silent_p.V472V|EPHA7_uc011eac.2_Silent_p.V472V	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	472	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		ATTCTGTGATGACTCCATTGG	0.453000														9			6		0	0	0.001984	0	0
TRIML2	205860	broad.mit.edu	37	4	189022263	189022263	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:189022263G>A	uc011cle.1	-	2	649	c.427C>T	c.(427-429)Caa>Taa	p.Q143*	TRIML2_uc003izj.1_5'UTR|TRIML2_uc003izk.1_5'UTR|TRIML2_uc003izl.2_Nonsense_Mutation_p.Q93*|TRIML2_uc011clf.1_Nonsense_Mutation_p.Q143*	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA.	93							ligase activity	p.E143*(1)		central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		TTGATCGCTTGATTCAGAAGG	0.428000														34			33		0	0	0.003271	0	0
C2orf16	84226	broad.mit.edu	37	2	27799787	27799788	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:27799787_27799788GG>AA	uc002rkz.4	+	0	399_400	c.348_349GG>AA	c.(346-351)atggaa>atAAaa	p.116_117ME>IK		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	116										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					ATCAAATCATGGAATCCTCTGA	0.406000														7			9		0	0	0.004672	0	0
ALDH3B2	222	broad.mit.edu	37	11	67430836	67430836	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:67430836G>A	uc001omr.3	-	9	1447	c.1008C>T	c.(1006-1008)ttC>ttT	p.F336F	ALDH3B2_uc001oms.3_Silent_p.F336F	NM_000695	NP_001026786	P48448	AL3B2_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member B2 (ALDH3B2), transcript variant 1, mRNA.	336					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	TGTCGAAGGTGAACTTGCCGT	0.627000														28			17		0	0	0.002780	0	0
SENP6	26054	broad.mit.edu	37	6	76388549	76388550	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:76388549_76388550CC>TT	uc003pid.4	+	15	2600_2601	c.1981_1982CC>TT	c.(1981-1983)cca>TTa	p.P661L	SENP6_uc003pie.4_Missense_Mutation_p.P654L|SENP6_uc010kbf.3_Non-coding_Transcript|SENP6_uc003pic.2_Missense_Mutation_p.P654L|SENP6_uc003pif.1_Missense_Mutation_p.P552L	NM_015571	NP_056386	Q9GZR1	SENP6_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 6 (SENP6), transcript variant 1, mRNA.	661					proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				TCCACCACCTCCAGCTAAGGGA	0.317000														9			12		0	0	0.004672	0	0
ATAD3B	83858	broad.mit.edu	37	1	1417677	1417678	+	Missense_Mutation	DNP	CC	TA	TA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:1417677_1417678CC>TA	uc001afv.3	+	5	775_776	c.674_675CC>TA	c.(673-675)tcc>tTA	p.S225L	ATAD3B_uc001afw.2_Missense_Mutation_p.S179L|ATAD3B_uc001afx.3_Missense_Mutation_p.S179L	NM_031921	NP_114127	Q5T9A4	ATD3B_HUMAN	Homo sapiens ATPase family, AAA domain containing 3B (ATAD3B), nuclear gene encoding mitochondrial protein, mRNA.	225							ATP binding|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GTCTTGGAGTCCATCAGGTGAG	0.698000														26			9		0	0	0.004672	0	0
PLEC	5339	broad.mit.edu	37	8	144992198	144992198	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:144992198C>T	uc003zaf.1	-	31	12372	c.12202G>A	c.(12202-12204)Ggc>Agc	p.G4068S	PLEC_uc003zab.1_Missense_Mutation_p.G3931S|PLEC_uc003zac.1_Missense_Mutation_p.G3935S|PLEC_uc003zad.2_Missense_Mutation_p.G3931S|PLEC_uc003zae.1_Missense_Mutation_p.G3899S|PLEC_uc003zag.1_Missense_Mutation_p.G3909S|PLEC_uc003zah.2_Missense_Mutation_p.G3917S|PLEC_uc003zaj.2_Missense_Mutation_p.G3958S	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	4068	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CAGCTGGTGCCTTCCAGGAAC	0.637000														8			8		0	0	0.003080	0	0
MSH5	4439	broad.mit.edu	37	6	31721350	31721350	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:31721350C>T	uc003nwu.2	+	11	1086	c.958C>T	c.(958-960)Ctg>Ttg	p.L320L	MSH5_uc003nwx.2_Silent_p.L337L|MSH5_uc003nwv.2_Silent_p.L320L|MSH5_uc003nww.2_Silent_p.L320L|MSH5_uc011dof.1_Silent_p.L19L|MSH5_uc003nwy.1_5'Flank	NM_172165	NP_751897	O43196	MSH5_HUMAN	Homo sapiens mutS homolog 5 (E. coli) (MSH5), transcript variant 2, mRNA.	320					chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|ovary(2)|skin(2)	5						GTAGCTGATTCTGAAACGCAT	0.517000								Direct reversal of damage;Mismatch excision repair (MMR)						79			116		0	0	0.003610	0	0
ACSM2A	123876	broad.mit.edu	37	16	20494415	20494415	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:20494415C>T	uc010bwe.3	+	13	1784	c.1545C>T	c.(1543-1545)ttC>ttT	p.F515F	ACSM2A_uc002dhf.4_Silent_p.F515F|ACSM2A_uc002dhg.4_Silent_p.F515F|ACSM2A_uc010vay.2_Silent_p.F436F|ACSM2A_uc002dhh.4_Silent_p.F145F	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	515					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	p.F515F(2)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						CCTCGCAGTTCCTGTCCCATG	0.507000														62			48		0	0	0.003610	0	0
CIAPIN1	57019	broad.mit.edu	37	16	57467961	57467962	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:57467961_57467962GG>AA	uc002ell.1	-	4	721_722	c.550_551CC>TT	c.(550-552)cct>TTt	p.P184F	CIAPIN1_uc002elm.1_Missense_Mutation_p.P171F|CIAPIN1_uc010vhm.1_Missense_Mutation_p.P184F	NM_020313	NP_064709	Q6FI81	CPIN1_HUMAN	Homo sapiens cytokine induced apoptosis inhibitor 1 (CIAPIN1), mRNA.	184					anti-apoptosis|apoptosis	cytoplasm|nucleolus				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						CTTACCTGAAGGAGAAGACTTC	0.421000														2			40		0	0	0.004672	0	0
TTN	7273	broad.mit.edu	37	2	179427692	179427692	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:179427692C>T	uc021vsy.1	-	274	75688	c.75463G>A	c.(75463-75465)Gag>Aag	p.E25155K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E18850K|TTN_uc021vta.1_Missense_Mutation_p.E18783K|TTN_uc021vtb.1_Missense_Mutation_p.E18658K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	26082	Fibronectin type-III 83.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGGTCACCTCTATCTGAGCC	0.408000														18			4		0	0	0.000248	0	0
POTEA	340441	broad.mit.edu	37	8	43171082	43171082	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:43171082G>A	uc003xpz.1	+	6	996	c.953G>A	c.(952-954)gGa>gAa	p.G318E	POTEA_uc003xqa.1_Missense_Mutation_p.G272E	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN	Homo sapiens POTE ankyrin domain family, member A (POTEA), transcript variant 2, mRNA.	318										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AGGCTTAAAGGAAGTGAAAAT	0.303000														2			9		0	0	0.006214	0	0
RP1	6101	broad.mit.edu	37	8	55539327	55539327	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:55539327G>A	uc003xsd.1	+	3	3033	c.2885G>A	c.(2884-2886)gGa>gAa	p.G962E	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	962					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACAAATTCTGGAAAAATAAGT	0.313000														16			18		0	0	0.006122	0	0
SLC45A2	51151	broad.mit.edu	37	5	33984337	33984338	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:33984337_33984338CC>TT	uc003jid.3	-	0	443_444	c.351_352GG>AA	c.(349-354)atggct>atAAct	p.117_118MA>IT	SLC45A2_uc003jie.3_Missense_Mutation_p.117_118MA>IT|SLC45A2_uc003jif.4_Missense_Mutation_p.117_118MA>IT|SLC45A2_uc011coe.1_Missense_Mutation_p.117_118MA>IT	NM_016180	NP_057264	Q9UMX9	S45A2_HUMAN	Homo sapiens solute carrier family 45, member 2 (SLC45A2), transcript variant 1, mRNA.	117					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						AGGTACAGAGCCATGCCCACGA	0.614000														19			18		0	0	0.004672	0	0
FAM98B	283742	broad.mit.edu	37	15	38765776	38765776	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:38765776C>T	uc001zkc.3	+	4	637	c.602C>T	c.(601-603)tCa>tTa	p.S201L	FAM98B_uc001zkb.1_Missense_Mutation_p.S201L	NM_173611	NP_775882	Q52LJ0	FA98B_HUMAN	Homo sapiens family with sequence similarity 98, member B (FAM98B), transcript variant 1, mRNA.	201						tRNA-splicing ligase complex	protein binding			endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8		all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209)		GATTTAAATTCAGAACAGGCG	0.279000														0			36		0	0	0.002852	0	0
ASXL3	80816	broad.mit.edu	37	18	31324895	31324895	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:31324895G>A	uc010dmg.1	+	11	5138	c.5083G>A	c.(5083-5085)Gct>Act	p.A1695T	ASXL3_uc002kxq.2_Missense_Mutation_p.A1402T	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1695					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GCCTCCTCCGGCTGCAGAGGG	0.502000														39			14		0	0	0.006122	0	0
KIF5B	3799	broad.mit.edu	37	10	32309990	32309990	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:32309990C>T	uc001iwe.4	-	18	2634	c.2164G>A	c.(2164-2166)Gaa>Aaa	p.E722K		NM_004521	NP_004512	P33176	KINH_HUMAN	Homo sapiens kinesin family member 5B (KIF5B), mRNA.	722					stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				GCTTCTACTTCATCTCTCAAA	0.363000			T	"""RET, ALK"""	NSCLC									54			38		0	0	0.006999	0	0
MATN3	4148	broad.mit.edu	37	2	20200319	20200319	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:20200319T>A	uc002rdl.3	-	4	1114	c.1051A>T	c.(1051-1053)Aaa>Taa	p.K351*	MATN3_uc010exu.1_Nonsense_Mutation_p.K309*	NM_002381	NP_002372	O15232	MATN3_HUMAN	Homo sapiens matrilin 3 (MATN3), mRNA.	351	EGF-like 3.				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAAGCACATTTATCTTGAGCT	0.403000														14			11		0	0	0.001368	0	0
VPS53	55275	broad.mit.edu	37	17	531397	531397	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:531397C>G	uc010cjo.2	-	8	909	c.762G>C	c.(760-762)caG>caC	p.Q254H	VPS53_uc002frk.3_5'UTR|VPS53_uc002frl.2_Non-coding_Transcript|VPS53_uc002frm.2_Missense_Mutation_p.Q225H|VPS53_uc002frn.2_Missense_Mutation_p.Q254H|VPS53_uc002fro.2_Missense_Mutation_p.Q56H|VPS53_uc010cjp.1_Intron	NM_001128159	NP_001121631	Q5VIR6	VPS53_HUMAN	Homo sapiens vacuolar protein sorting 53 homolog (S. cerevisiae) (VPS53), transcript variant 1, mRNA.	254					protein transport	Golgi apparatus|endosome membrane		p.D253Y(1)		breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		TGATGATTTCCTGTTTGATCC	0.378000														11			22		0	0	0.002299	0	0
LCT	3938	broad.mit.edu	37	2	136574996	136574996	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:136574996T>G	uc002tuu.1	-	5	1633	c.1622A>C	c.(1621-1623)cAt>cCt	p.H541P		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	541	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CCACGGCTCATGGAAGGTCAC	0.592000														9			18		0	0	0.006122	0	0
RNF14	9604	broad.mit.edu	37	5	141367340	141367340	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:141367340T>A	uc003llz.3	+	8	1658	c.1410T>A	c.(1408-1410)gaT>gaA	p.D470E	RNF14_uc003lly.3_Missense_Mutation_p.D470E|RNF14_uc003lma.3_Missense_Mutation_p.D470E|RNF14_uc003lmb.3_Missense_Mutation_p.D344E|RNF14_uc003lmc.3_Missense_Mutation_p.D470E|RNF14_uc011dbg.2_Missense_Mutation_p.D294E|RNF14_uc011dbh.2_Missense_Mutation_p.D167E|RNF14_uc003lmd.3_Missense_Mutation_p.D470E	NM_001201365	NP_001188294	Q9UBS8	RNF14_HUMAN	Homo sapiens ring finger protein 14 (RNF14), transcript variant 6, mRNA.	470	Interaction with androgen receptor.				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		TTTGGGAAGATGAGGTAGAAG	0.368000														58			33		0	0	0.007835	0	0
OR8G2	26492	broad.mit.edu	37	11	124095505	124095505	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:124095505C>T	uc010saf.2	+	0	108	c.108C>T	c.(106-108)ctC>ctT	p.L36L		NM_001007249	NP_001007250	Q8N0Y1	Q8N0Y1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily G, member 2 (OR8G2), mRNA.	36						integral to membrane	olfactory receptor activity						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		AGCCAGAGCTCCAGCTGCGCC	0.498000														12			35		0	0	0.004878	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44268820	44268820	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:44268820G>A	uc010xcy.1	-	4	1050	c.482C>T	c.(481-483)cCc>cTc	p.P161L	ST8SIA5_uc002lci.1_5'UTR|ST8SIA5_uc002lcj.1_Missense_Mutation_p.P125L|ST8SIA5_uc010xcz.1_Missense_Mutation_p.P94L	NM_013305	NP_037437	O15466	SIA8E_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 (ST8SIA5), mRNA.	125					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						TGTCCCCAGGGGAGTGTTCTT	0.572000														42			10		0	0	0.000673	0	0
MAP3K14	9020	broad.mit.edu	37	17	43367999	43367999	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:43367999G>T	uc002iiw.1	-	1	222	c.113C>A	c.(112-114)tCc>tAc	p.S38Y	MAP3K14_uc002iiv.1_5'UTR	NM_003954	NP_003945	Q99558	M3K14_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 14 (MAP3K14), mRNA.	38					I-kappaB kinase/NF-kappaB cascade|T cell costimulation|cellular response to mechanical stimulus|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CTTGTAGACGGAGCTCTGTTT	0.592000														20			31		4.34311e-12	6.05271e-12	0.003271	1	0
CUL9	23113	broad.mit.edu	37	6	43155681	43155681	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:43155681C>T	uc003ouk.3	+	6	1887	c.1812C>T	c.(1810-1812)ttC>ttT	p.F604F	CUL9_uc003ouj.1_Silent_p.F494F|CUL9_uc003oul.3_Silent_p.F604F|CUL9_uc010jyk.3_5'UTR|CUL9_uc003oum.1_Silent_p.F62F	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	604					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						AGGCCAGCTTCTCAGAGGAAG	0.562000														20			16		0	0	0.003163	0	0
MARK4	57787	broad.mit.edu	37	19	45766591	45766591	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:45766591C>T	uc002pbb.2	+	3	652	c.321C>T	c.(319-321)gtC>gtT	p.V107V	MARK4_uc002paz.2_Intron|MARK4_uc002pba.2_Silent_p.V107V|MARK4_uc002pbc.1_5'Flank	NM_001199867	NP_001186796	Q96L34	MARK4_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 4 (MARK4), transcript variant 1, mRNA.	107	Protein kinase.				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding	p.V107D(1)		NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TCCGAGAAGTCCGCATCATGA	0.622000														33			28		0	0	0.001512	0	0
DNAH3	55567	broad.mit.edu	37	16	21049100	21049100	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:21049100C>T	uc010vbe.2	-	33	4933	c.4933G>A	c.(4933-4935)Gat>Aat	p.D1645N		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1645					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGAGGGACATCTTGCGCTAAG	0.507000														20			15		0	0	0.004990	0	0
NDST3	9348	broad.mit.edu	37	4	118975689	118975689	+	Silent	SNP	C	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:118975689C>G	uc003ibx.3	+	1	1027	c.624C>G	c.(622-624)tcC>tcG	p.S208S	NDST3_uc011cgf.1_Silent_p.S208S|NDST3_uc003ibw.3_Silent_p.S208S	NM_004784	NP_004775	O95803	NDST3_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 (NDST3), mRNA.	208	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						CCAAATCTTCCAAGCTTGAAA	0.358000														71			15		0	0	0.004990	0	0
ACTG2	72	broad.mit.edu	37	2	74135896	74135896	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:74135896G>A	uc002sjw.3	+	3	474	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K	ACTG2_uc010yrn.2_Missense_Mutation_p.E75K|ACTG2_uc010fey.3_Missense_Mutation_p.E118K	NM_001615	NP_001606	P63267	ACTH_HUMAN	Homo sapiens actin, gamma 2, smooth muscle, enteric (ACTG2), transcript variant 1, mRNA.	118					muscle contraction	cytoskeleton|cytosol	ATP binding			large_intestine(3)|lung(14)|skin(1)	18						GGCCAACAGGGAAAAGATGAC	0.512000														17			9		0	0	0.000673	0	0
ZFP42	132625	broad.mit.edu	37	4	188924206	188924206	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:188924206C>T	uc003izh.1	+	3	653	c.245C>T	c.(244-246)tCt>tTt	p.S82F	ZFP42_uc003izi.1_Missense_Mutation_p.S82F|ZFP42_uc021xvm.1_Missense_Mutation_p.S82F	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.	82					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GGTGAGTTTTCTCAACCCATC	0.458000														66			26		0	0	0.006320	0	0
CSMD3	114788	broad.mit.edu	37	8	113301638	113301638	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:113301638C>G	uc003ynu.3	-	56	9263	c.9104G>C	c.(9103-9105)tGc>tCc	p.C3035S	CSMD3_uc003yns.3_Missense_Mutation_p.C2237S|CSMD3_uc003ynt.3_Missense_Mutation_p.C2995S|CSMD3_uc011lhx.2_Missense_Mutation_p.C2866S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	3035	Sushi 21.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATTCAATTGGCAGGTTCTTGA	0.423000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				14			16		0	0	0.004990	0	0
AGTR2	186	broad.mit.edu	37	X	115304184	115304184	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:115304184C>T	uc022cdd.1	+	0	651	c.651C>T	c.(649-651)atC>atT	p.I217I	AGTR2_uc004eqh.4_Silent_p.I217I	NM_000686	NP_000677	P50052	AGTR2_HUMAN	Homo sapiens angiotensin II receptor, type 2 (AGTR2), mRNA.	217					G-protein signaling, coupled to cGMP nucleotide second messenger|behavior|blood vessel remodeling|brain development|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						TGAAAAATATCCTTGGTTTTA	0.373000														1			11		0	0	0.000673	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38573626	38573626	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:38573626C>T	uc002ohk.3	+	2	1930	c.1421C>T	c.(1420-1422)tCg>tTg	p.S474L		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	474					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GCCAGCATCTCGGTGTTGGAA	0.672000														25			23		0	0	0.003330	0	0
SERPINI1	5274	broad.mit.edu	37	3	167507097	167507097	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:167507097G>A	uc003ffa.4	+	1	379	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K	SERPINI1_uc003ffb.4_Missense_Mutation_p.E61K	NM_001122752	NP_005016	Q99574	NEUS_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (neuroserpin), member 1 (SERPINI1), transcript variant 2, mRNA.	61					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						GGGAATGATGGAACTTGGGGC	0.413000														32			7		0	0	0.004482	0	0
CCDC14	64770	broad.mit.edu	37	3	123634301	123634301	+	Silent	SNP	G	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:123634301G>C	uc011bjx.2	-	12	2278	c.2187C>G	c.(2185-2187)tcC>tcG	p.S729S	CCDC14_uc003egv.4_Silent_p.S370S|CCDC14_uc003egx.4_Silent_p.S529S|CCDC14_uc010hrt.3_Silent_p.S688S|CCDC14_uc003egy.4_Silent_p.S529S|CCDC14_uc003egz.2_Intron	NM_022757	NP_073594	Q49A88	CCD14_HUMAN	Homo sapiens coiled-coil domain containing 14 (CCDC14), mRNA.	729						centrosome				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		GGCCTCTGGAGGACAGAACAT	0.403000														32			34		0	0	0.003755	0	0
FAM71F1	84691	broad.mit.edu	37	7	128369968	128369968	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:128369968C>T	uc003vno.1	+	5	919	c.866C>T	c.(865-867)tCc>tTc	p.S289F	FAM71F1_uc003vnm.1_Non-coding_Transcript|FAM71F1_uc003vnn.1_Missense_Mutation_p.S188F|FAM71F1_uc003vnp.1_Missense_Mutation_p.S287F	NM_032599	NP_115988	Q96KD3	F71F1_HUMAN	Homo sapiens family with sequence similarity 71, member F1 (FAM71F1), mRNA.	289										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						AAAGATTCTTCCCGTGAAGAC	0.527000														28			20		0	0	0.001523	0	0
NOS2	4843	broad.mit.edu	37	17	26090025	26090025	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:26090025C>T	uc002gzu.3	-	21	2863	c.2599G>A	c.(2599-2601)Gag>Aag	p.E867K		NM_000625	NP_000616	P35228	NOS2_HUMAN	Homo sapiens nitric oxide synthase 2, inducible (NOS2), mRNA.	867	FAD-binding FR-type.				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	FMN binding|NADP binding|arginine binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	TTGCTGTACTCTGAGGGCTAA	0.542000														10			6		0	0	0.004482	0	0
RELN	5649	broad.mit.edu	37	7	103179574	103179574	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:103179574G>A	uc022ajr.1	-	44	7291	c.7131C>T	c.(7129-7131)ttC>ttT	p.F2377F	RELN_uc022ajq.1_Silent_p.F2377F|RELN_uc010liz.3_Silent_p.F2377F	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	2377					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTATCTGTAGGAAGGAATCCT	0.537000														21			18		0	0	0.001523	0	0
PLCG2	5336	broad.mit.edu	37	16	81971413	81971414	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:81971413_81971414GG>AA	uc002fgt.3	+	27	3281_3282	c.3103_3104GG>AA	c.(3103-3105)ggc>AAc	p.G1035N		NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	1035	PI-PLC Y-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TGGGCGCACGGGCTACGTTCTG	0.525000														0			21		0	0	0.004672	0	0
PRPF4	9128	broad.mit.edu	37	9	116045453	116045453	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:116045453G>A	uc004bgx.3	+	4	635	c.525G>A	c.(523-525)aaG>aaA	p.K175K	PRPF4_uc004bgy.3_Silent_p.K174K	NM_004697	NP_004688	O43172	PRP4_HUMAN	Homo sapiens PRP4 pre-mRNA processing factor 4 homolog (yeast) (PRPF4), transcript variant 1, mRNA.	175						Cajal body|U4/U6 snRNP|nuclear speck|spliceosomal complex	protein binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						ATAGCTTGAAGGTGGCAAGAC	0.403000														46			58		0	0	0.003610	0	0
CSMD2	114784	broad.mit.edu	37	1	34080109	34080109	+	Missense_Mutation	SNP	C	T	T	rs142457038		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:34080109C>T	uc001bxm.1	-	39	6305	c.6128G>A	c.(6127-6129)gGc>gAc	p.G2043D	CSMD2_uc001bxn.1_Missense_Mutation_p.G2003D|CSMD2_uc001bxo.1_Missense_Mutation_p.G916D	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2003	CUB 12.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CTTACCAAAGCCCACGGGCAG	0.557000														16			7		0	0	0.004482	0	0
ALPK1	80216	broad.mit.edu	37	4	113359765	113359765	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:113359765C>T	uc003ian.4	+	12	3541	c.3314C>T	c.(3313-3315)cCc>cTc	p.P1105L	ALPK1_uc003iap.4_Missense_Mutation_p.P1105L|ALPK1_uc011cfx.2_Missense_Mutation_p.P1027L|ALPK1_uc003iao.4_Non-coding_Transcript|ALPK1_uc010imo.3_Missense_Mutation_p.P933L	NM_001102406	NP_079420	Q96QP1	ALPK1_HUMAN	Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA.	1105	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CAAAACATTCCCACCCAGATA	0.418000														23			37		0	0	0.002522	0	0
CCDC158	339965	broad.mit.edu	37	4	77247026	77247026	+	Silent	SNP	T	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:77247026T>A	uc003hkb.4	-	21	3294	c.3141A>T	c.(3139-3141)tcA>tcT	p.S1047S	U7_uc021xpf.1_5'Flank	NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	1047	Ser-rich.									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						CAGAATCAGATGAATGAATAG	0.368000														45			20		0	0	0.001523	0	0
ITGA7	3679	broad.mit.edu	37	12	56086948	56086948	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:56086948G>A	uc001shh.3	-	19	2921	c.2701C>T	c.(2701-2703)Ccc>Tcc	p.P901S	ITGA7_uc001shg.3_Missense_Mutation_p.P897S|ITGA7_uc010sps.2_Missense_Mutation_p.P804S|ITGA7_uc009znw.3_Missense_Mutation_p.P144S|ITGA7_uc009znx.3_Missense_Mutation_p.P778S	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	941					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TTGGGCCTGGGAGAGCAAAGC	0.587000														16			31		0	0	0.002096	0	0
RCSD1	92241	broad.mit.edu	37	1	167666602	167666602	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:167666602G>A	uc001gem.3	+	5	928	c.741G>A	c.(739-741)gaG>gaA	p.E247E	RCSD1_uc010pli.2_Silent_p.E217E	NM_052862	NP_443094	Q6JBY9	CPZIP_HUMAN	Homo sapiens RCSD domain containing 1 (RCSD1), mRNA.	247	RCSD.									NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					GCAGGACAGAGAAGCAGGAGG	0.627000														20			7		0	0	0.001984	0	0
DPYD	1806	broad.mit.edu	37	1	97839171	97839171	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:97839171A>T	uc001drv.3	-	15	2141	c.2004T>A	c.(2002-2004)aaT>aaA	p.N668K		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	668	Uracil binding (Potential).				'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	GACATGATAAATTTAACTCCA	0.433000														47			8		0	0	0.006214	0	0
FAM71B	153745	broad.mit.edu	37	5	156589678	156589678	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:156589678T>C	uc003lwn.3	-	1	1698	c.1598A>G	c.(1597-1599)aAg>aGg	p.K533R		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	533						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGAGCTGATCTTACTGGCTTT	0.478000														366			280		0	0	0.003610	0	0
OGDHL	55753	broad.mit.edu	37	10	50952798	50952798	+	Splice_Site	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:50952798C>T	uc009xog.3	-	12	1745	c.1711_splice	c.e12-1	p.E571_splice	OGDHL_uc001jie.3_Splice_Site_p.E544_splice|OGDHL_uc010qgt.2_Splice_Site_p.E487_splice|OGDHL_uc010qgu.2_Splice_Site_p.E335_splice|OGDHL_uc009xoh.2_Splice_Site_p.E335_splice	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	544					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GCAATTTCTTCCTGGAATCAG	0.527000														32			24		0	0	0.003330	0	0
PRELID2	153768	broad.mit.edu	37	5	145176046	145176046	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:145176046C>T	uc003lnp.1	-	5	554	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K	PRELID2_uc003lno.1_Missense_Mutation_p.E116K|PRELID2_uc003lnq.1_Missense_Mutation_p.E145K|PRELID2_uc003lnr.1_Missense_Mutation_p.E145K	NM_182960	NP_892005	Q8N945	PRLD2_HUMAN	Homo sapiens PRELI domain containing 2 (PRELID2), transcript variant 1, mRNA.	157	PRELI/MSF1.									endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCAAAAGTTTCTAAAACACAG	0.363000														23			19		0	0	0.002299	0	0
MRC2	9902	broad.mit.edu	37	17	60766290	60766290	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:60766290G>A	uc002jad.3	+	22	3705	c.3303G>A	c.(3301-3303)gaG>gaA	p.E1101E	MRC2_uc002jae.3_Silent_p.E172E|MRC2_uc002jaf.3_Missense_Mutation_p.R47K	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	Homo sapiens mannose receptor, C type 2 (MRC2), mRNA.	1101	C-type lectin 6.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GCACGGAGGAGACCCATGGCT	0.662000														15			11		0	0	0.001368	0	0
PKN1	5585	broad.mit.edu	37	19	14562737	14562737	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:14562737G>T	uc002myp.3	+	6	1235	c.1067G>T	c.(1066-1068)aGc>aTc	p.S356I	PKN1_uc002myq.3_Missense_Mutation_p.S362I	NM_002741	NP_002732	Q16512	PKN1_HUMAN	Homo sapiens protein kinase N1 (PKN1), transcript variant 2, mRNA.	356	C2.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	ATP binding|GTP-Rho binding|Rac GTPase binding|androgen receptor binding|chromatin binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						ACCCCAGACAGCCGCCCCCCC	0.672000														14			14		4.7546e-09	6.60023e-09	0.004007	1	0
PVRL1	5818	broad.mit.edu	37	11	119510718	119510718	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:119510718C>T	uc001pwu.1	-	5	1180	c.1008G>A	c.(1006-1008)aaG>aaA	p.K336K		NM_203285	NP_976030	Q15223	PVRL1_HUMAN	Homo sapiens poliovirus receptor-related 1 (herpesvirus entry mediator C) (PVRL1), transcript variant 2, mRNA.	336					adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		GGGGGCGGGGCTTTTCTGGAA	0.552000														3			5		0	0	0.000602	0	0
EPHA2	1969	broad.mit.edu	37	1	16475015	16475016	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:16475015_16475016GG>AA	uc001aya.2	-	2	835_836	c.680_681CC>TT	c.(679-681)gcc>gTT	p.A227V	EPHA2_uc010oca.2_Missense_Mutation_p.A227V	NM_004431	NP_004422	P29317	EPHA2_HUMAN	Homo sapiens EPH receptor A2 (EPHA2), mRNA.	227	Cys-rich.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	CACAGGTGCCGGCCACAGTGGC	0.658000														13			28		0	0	0.004672	0	0
NLRP13	126204	broad.mit.edu	37	19	56422054	56422054	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:56422054G>A	uc010ygg.2	-	5	2182	c.2157C>T	c.(2155-2157)tgC>tgT	p.C719C		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	719							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)		CCAACGTAGAGCAAATGCTGT	0.453000														65			64		0	0	0.003610	0	0
CTNNA3	29119	broad.mit.edu	37	10	67680275	67680275	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:67680275C>T	uc009xpn.1	-	17	2624	c.2501G>A	c.(2500-2502)cGa>cAa	p.R834Q	CTNNA3_uc001jmw.2_Missense_Mutation_p.R834Q	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	834					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	p.R834*(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						ACTCTGGATTCGGATGATCTT	0.463000														51			33		0	0	0.004289	0	0
TBL2	26608	broad.mit.edu	37	7	72985160	72985160	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:72985160G>A	uc003tyh.3	-	6	1155	c.1021C>T	c.(1021-1023)Ccc>Tcc	p.P341S	TBL2_uc011kex.2_Missense_Mutation_p.P305S|TBL2_uc010lbg.3_Missense_Mutation_p.P246S|TBL2_uc003tyi.3_Missense_Mutation_p.P176S|TBL2_uc011key.2_Missense_Mutation_p.P212S	NM_012453	NP_036585	Q9Y4P3	TBL2_HUMAN	Homo sapiens transducin (beta)-like 2 (TBL2), mRNA.	341										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				TGGGCGTTGGGGGAGAGGGCC	0.617000														44			39		0	0	0.006999	0	0
SECISBP2	79048	broad.mit.edu	37	9	91961818	91961818	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:91961818C>T	uc004aqj.1	+	10	1537	c.1457C>T	c.(1456-1458)tCc>tTc	p.S486F	SECISBP2_uc010mqo.1_Missense_Mutation_p.S191F|SECISBP2_uc004aqk.1_Missense_Mutation_p.S413F|SECISBP2_uc011ltk.1_Missense_Mutation_p.S485F|SECISBP2_uc011ltl.1_Missense_Mutation_p.S418F	NM_024077	NP_076982	Q96T21	SEBP2_HUMAN	Homo sapiens SECIS binding protein 2 (SECISBP2), mRNA.	486					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						CCAGTCCTTTCCAAAGAATGT	0.592000														19			27		0	0	0.002096	0	0
GRID2	2895	broad.mit.edu	37	4	94137945	94137945	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:94137945G>A	uc011cdt.2	+	5	1104	c.846G>A	c.(844-846)acG>acA	p.T282T	GRID2_uc010ikx.3_Silent_p.T282T|GRID2_uc011cdu.2_Silent_p.T187T|GRID2_uc010ikz.1_5'UTR	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	282					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GAAGGTTAACGATTATTCGGC	0.398000														20			7		0	0	0.001984	0	0
RNASE1	6035	broad.mit.edu	37	14	21269982	21269982	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:21269982G>A	uc021rop.1	-	0	246	c.246C>T	c.(244-246)gtC>gtT	p.V82V	RNASE1_uc001vyf.3_Silent_p.V82V|RNASE1_uc001vyg.3_Silent_p.V82V|RNASE1_uc001vyh.3_Silent_p.V82V|RNASE1_uc001vyi.3_Silent_p.V82V	NM_198235	NP_937878	P07998	RNAS1_HUMAN	Homo sapiens ribonuclease, RNase A family, 1 (pancreatic) (RNASE1), transcript variant 1, mRNA.	82						extracellular region	nucleic acid binding|pancreatic ribonuclease activity|protein binding			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	5	all_cancers(95;0.00671)	all_lung(585;0.235)	Epithelial(56;9.21e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0126)		AGACATTCTGGACATCTACCA	0.542000														57			39		0	0	0.006999	0	0
PLAGL1	5325	broad.mit.edu	37	6	144262864	144262864	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:144262864C>T	uc003qjv.3	-	2	2355	c.1089G>A	c.(1087-1089)aaG>aaA	p.K363K	PLAGL1_uc003qjx.3_Silent_p.K363K|PLAGL1_uc003qjy.3_Silent_p.K363K|PLAGL1_uc010khl.3_Silent_p.K363K|PLAGL1_uc010khm.3_Silent_p.K363K|PLAGL1_uc003qjz.3_Silent_p.K363K|PLAGL1_uc003qka.3_Silent_p.K363K|PLAGL1_uc003qkb.3_Silent_p.K311K|PLAGL1_uc003qkc.3_Silent_p.K363K|PLAGL1_uc003qkd.3_Silent_p.K311K|PLAGL1_uc003qke.3_Silent_p.K363K|PLAGL1_uc003qkf.3_Silent_p.K363K|PLAGL1_uc003qkg.3_Silent_p.K311K|PLAGL1_uc003qkh.3_Silent_p.K363K|PLAGL1_uc003qki.3_Silent_p.K311K|PLAGL1_uc003qkj.3_Silent_p.K363K|PLAGL1_uc003qkk.3_Silent_p.K311K|PLAGL1_uc003qkl.3_Silent_p.K311K|PLAGL1_uc003qkm.3_Silent_p.K363K|PLAGL1_uc010khn.3_Silent_p.K363K|PLAGL1_uc003qkn.3_Silent_p.K311K|PLAGL1_uc003qko.3_Silent_p.K363K|PLAGL1_uc003qkp.3_Silent_p.K311K|PLAGL1_uc003qjw.3_Silent_p.K311K|PLAGL1_uc021zgj.1_Silent_p.K311K	NM_002656	NP_002647	Q9UM63	PLAL1_HUMAN	Homo sapiens pleiomorphic adenoma gene-like 1 (PLAGL1), transcript variant 1, mRNA.	363					cell cycle arrest|induction of apoptosis|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13				OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)		CAGGCAGCTCCTTGGGCAGGT	0.532000														270			222		0	0	0.003610	0	0
SOGA3	387104	broad.mit.edu	37	6	127797247	127797247	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:127797247G>A	uc003qbd.3	-	5	2789	c.1924C>T	c.(1924-1926)Ctg>Ttg	p.L642L	KIAA0408_uc003qbc.3_5'Flank	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	Homo sapiens chromosome 6 open reading frame 174 (C6orf174), mRNA.	642						integral to membrane											AGCTCCGACAGGGATTCGCTC	0.642000														33			32		0	0	0.002836	0	0
XYLT1	64131	broad.mit.edu	37	16	17211549	17211549	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:17211549G>A	uc002dfa.3	-	10	2596	c.2511C>T	c.(2509-2511)ttC>ttT	p.F837F		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	Homo sapiens xylosyltransferase I (XYLT1), mRNA.	837					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|extracellular region|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCGCAACGAGGAATTTGGTCT	0.532000														38			25		0	0	0.006320	0	0
CRTC3	64784	broad.mit.edu	37	15	91182028	91182028	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:91182028G>A	uc002bpp.3	+	12	1635	c.1529G>A	c.(1528-1530)gGc>gAc	p.G510D	CRTC3_uc002bpo.3_Missense_Mutation_p.G510D	NM_022769	NP_073606	Q6UUV7	CRTC3_HUMAN	Homo sapiens CREB regulated transcription coactivator 3 (CRTC3), transcript variant 1, mRNA.	510					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			ATGAGGCCAGGCCCTGCCTTT	0.488000			T	MAML2	salivary gland mucoepidermoid									32			37		0	0	0.003214	0	0
C15orf2	23742	broad.mit.edu	37	15	24922995	24922995	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:24922995C>T	uc001ywo.3	+	0	2455	c.1981C>T	c.(1981-1983)Ctc>Ttc	p.L661F		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	661					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		GAAAGCTTCTCTCCCCAGTGC	0.507000														51			55		0	0	0.003610	0	0
SATB1	6304	broad.mit.edu	37	3	18391078	18391078	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:18391078G>A	uc003cbh.3	-	10	3611	c.1876C>T	c.(1876-1878)Cca>Tca	p.P626S	SATB1_uc003cbi.3_Missense_Mutation_p.P658S|SATB1_uc003cbj.3_Missense_Mutation_p.P626S	NM_002971	NP_002962	Q01826	SATB1_HUMAN	Homo sapiens SATB homeobox 1 (SATB1), transcript variant 1, mRNA.	626					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	PML body|nuclear matrix	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						GGTTGCCGTGGGGGGAGCCGA	0.617000														28			13		0	0	0.004007	0	0
AIM1	202	broad.mit.edu	37	6	106967388	106967388	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:106967388G>A	uc003prh.3	+	1	1993	c.1081G>A	c.(1081-1083)Gga>Aga	p.G361R		NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	361							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AGGAATGAATGGAGACTCTTC	0.463000														39			32		0	0	0.002096	0	0
RPL17-C18ORF32	100526842	broad.mit.edu	37	18	47017254	47017254	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:47017254C>T	uc002ldm.2	-	2	138	c.125G>A	c.(124-126)cGa>cAa	p.R42Q	RPL17-C18ORF32_uc021ujt.1_Missense_Mutation_p.R4Q|RPL17-C18ORF32_uc021ujv.1_Missense_Mutation_p.R42Q|RPL17-C18ORF32_uc021ujw.1_Missense_Mutation_p.R42Q|RPL17-C18ORF32_uc021ujx.1_Missense_Mutation_p.R42Q|RPL17-C18ORF32_uc021ujy.1_Missense_Mutation_p.R42Q|RPL17-C18ORF32_uc002ldq.3_Missense_Mutation_p.R42Q|RPL17-C18ORF32_uc010xdg.2_Missense_Mutation_p.R4Q|RPL17-C18ORF32_uc002ldp.3_Missense_Mutation_p.R42Q|RPL17-C18ORF32_uc021ujz.1_Missense_Mutation_p.R42Q|SNORD58C_uc002ldr.2_5'Flank	NM_001199355	NP_001186284			Homo sapiens RPL17-C18orf32 readthrough (RPL17-C18ORF32), transcript variant 1, mRNA.																		CGTGGCTTTTCGTATATGCAT	0.398000														83			40		0	0	0.001951	0	0
RAD18	56852	broad.mit.edu	37	3	8977647	8977647	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:8977647G>A	uc003brd.3	-	6	887	c.797C>T	c.(796-798)tCt>tTt	p.S266F		NM_020165	NP_064550	Q9NS91	RAD18_HUMAN	Homo sapiens RAD18 homolog (S. cerevisiae) (RAD18), mRNA.	266	SAP.				DNA repair	nucleus|replication fork	Y-form DNA binding|damaged DNA binding|ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		TCCTTGAATAGATAATCCATG	0.363000								Rad6 pathway						11			17		0	0	0.004007	0	0
OR2T2	401992	broad.mit.edu	37	1	248616127	248616128	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:248616127_248616128CC>TT	uc001iek.1	+	0	29_30	c.29_30CC>TT	c.(28-30)tcc>tTT	p.S10F		NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 2 (OR2T2), mRNA.	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTCCAGAACTCCACTAACTTCG	0.500000														80			14		0	0	0.004672	0	0
HEATR1	55127	broad.mit.edu	37	1	236717941	236717941	+	Missense_Mutation	SNP	C	T	T	rs142962546		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:236717941C>T	uc001hyd.2	-	41	6187	c.6035G>A	c.(6034-6036)aGt>aAt	p.S2012N	HEATR1_uc009xgh.2_Missense_Mutation_p.S1174N	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA.	2012					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TCTCTCTTTACTTATAAAATG	0.408000														22			48		0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179418818	179418818	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:179418818C>T	uc021vsy.1	-	281	81541	c.81316G>A	c.(81316-81318)Gac>Aac	p.D27106N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D20801N|TTN_uc021vta.1_Missense_Mutation_p.D20734N|TTN_uc021vtb.1_Missense_Mutation_p.D20609N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	28033	Ig-like 129.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCTTCTTGTCTCGTTTTTCA	0.403000														59			23		0	0	0.003954	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33957056	33957056	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:33957056C>T	uc001bxj.4	+	5	1365	c.1198C>T	c.(1198-1200)Ccc>Tcc	p.P400S	ZSCAN20_uc001bxk.2_Missense_Mutation_p.P346S|ZSCAN20_uc009vui.3_Missense_Mutation_p.P400S	NM_145238	NP_660281	P17040	ZSC20_HUMAN	Homo sapiens zinc finger and SCAN domain containing 20 (ZSCAN20), mRNA.	400					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AGGTACCTGCCCCTTCTATGA	0.602000														21			39		0	0	0.005524	0	0
KIAA1462	57608	broad.mit.edu	37	10	30336468	30336469	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:30336468_30336469CC>TT	uc009xle.2	-	1	410_411	c.273_274GG>AA	c.(271-276)tcggag>tcAAag	p.E92K	KIAA1462_uc001iux.3_Missense_Mutation_p.E92K|KIAA1462_uc001iuy.3_Missense_Mutation_p.E92K|KIAA1462_uc001iuz.3_5'UTR	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	92										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TACCCCGCCTCCGAGGTTCTGG	0.554000														18			14		0	0	0.004672	0	0
PLCH1	23007	broad.mit.edu	37	3	155199056	155199056	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:155199056C>T	uc021xge.1	-	22	5060	c.4783G>A	c.(4783-4785)Gag>Aag	p.E1595K	PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Missense_Mutation_p.E1557K	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	1595					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TCCTGTTTCTCCTTGGCACGA	0.522000														38			44		0	0	0.003610	0	0
BDKRB2	624	broad.mit.edu	37	14	96707697	96707697	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:96707697G>T	uc010avm.1	+	2	1228	c.1032G>T	c.(1030-1032)tgG>tgT	p.W344C	BDKRB2_uc010avl.2_3'UTR|BDKRB2_uc010twu.1_Missense_Mutation_p.W317C|BDKRB2_uc001yfg.2_Missense_Mutation_p.W344C	NM_000623	NP_000614	P30411	BKRB2_HUMAN	Homo sapiens bradykinin receptor B2 (BDKRB2), mRNA.	344					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		AGAAGTCTTGGGAGGTGTACC	0.562000														20			13		1.52009e-12	2.11921e-12	0.003163	1	0
JUP	3728	broad.mit.edu	37	17	39680682	39680682	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:39680682C>T	uc010wfs.2	-	6	1268	c.1260G>A	c.(1258-1260)gaG>gaA	p.E420E	KRT15_uc002hxb.1_5'Flank|KRT15_uc002hxc.1_5'Flank|JUP_uc002hxd.4_Silent_p.E257E	NM_021991	NP_068831	P14923	PLAK_HUMAN	Homo sapiens junction plakoglobin (JUP), transcript variant 2, mRNA.	0					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of Wnt receptor signaling pathway involved in heart development|negative regulation of heart induction by canonical Wnt receptor signaling pathway|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	Axin-APC-beta-catenin-GSK3B complex|Z disc|actin cytoskeleton|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|zonula adherens	RPTP-like protein binding|alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		CGGCCATGACCTCATATTGGC	0.617000														50			44		0	0	0.003610	0	0
ESPL1	9700	broad.mit.edu	37	12	53677305	53677305	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:53677305G>A	uc001sck.2	+	15	3151	c.3060G>A	c.(3058-3060)aaG>aaA	p.K1020K	ESPL1_uc001scj.2_Silent_p.K695K|ESPL1_uc010soe.1_Silent_p.K231K	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.	1020					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TTACAACAAAGCTGCAGATAC	0.532000														26			57		0	0	0.003610	0	0
GCKR	2646	broad.mit.edu	37	2	27741759	27741759	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:27741759G>A	uc002rky.3	+	16	1593	c.1527G>A	c.(1525-1527)cgG>cgA	p.R509R	GCKR_uc010ezd.3_Silent_p.R507R|GCKR_uc010ylu.2_Silent_p.R319R	NM_001486	NP_001477	Q14397	GCKR_HUMAN	Homo sapiens glucokinase (hexokinase 4) regulator (GCKR), mRNA.	509					carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					TGGACCTTCGGATTAGCAACT	0.542000														81			43		0	0	0.003610	0	0
P4HA3	283208	broad.mit.edu	37	11	74009403	74009403	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:74009403C>T	uc010rrj.2	-	3	614	c.571G>A	c.(571-573)Gcc>Acc	p.A191T	P4HA3_uc001ouy.4_Non-coding_Transcript|P4HA3_uc001ouz.3_Missense_Mutation_p.A191T			Q7Z4N8	P4HA3_HUMAN	Homo sapiens prolyl 4-hydroxylase, alpha polypeptide III (P4HA3), mRNA.	191						endoplasmic reticulum lumen	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					ATGTCATAGGCCACCTACACA	0.463000														66			64		0	0	0.003610	0	0
MAST4	375449	broad.mit.edu	37	5	66410038	66410038	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:66410038C>T	uc021xzk.1	+	11	1890	c.1582C>T	c.(1582-1584)Ccc>Tcc	p.P528S	MAST4_uc003jus.3_Missense_Mutation_p.P339S|MAST4_uc003jut.2_Missense_Mutation_p.P339S|MAST4_uc003juu.1_Missense_Mutation_p.P349S|MAST4_uc011cra.1_Missense_Mutation_p.P322S|MAST4_uc003juv.2_Missense_Mutation_p.P334S|MAST4_uc003juw.3_Missense_Mutation_p.P334S	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	531						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CAATAAGGATCCCTTGGAAGG	0.453000														13			6		0	0	0.001168	0	0
DSCAM	1826	broad.mit.edu	37	21	41668001	41668001	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr21:41668001G>A	uc002yyq.1	-	9	2615	c.2163C>T	c.(2161-2163)atC>atT	p.I721I	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	721	Ig-like C2-type 8.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ATTTCCACACGATGGTAGGTA	0.428000														18			15		0	0	0.003163	0	0
NTRK3	4916	broad.mit.edu	37	15	88483956	88483956	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:88483956G>A	uc002bme.2	-	14	1920	c.1614C>T	c.(1612-1614)atC>atT	p.I538I	NTRK3_uc002bmh.2_Silent_p.I530I|NTRK3_uc002bmf.2_Silent_p.I538I|NTRK3_uc021sua.1_Silent_p.I530I|NTRK3_uc010upl.1_Silent_p.I440I|NTRK3_uc010bnh.1_Silent_p.I530I	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	538	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.D537D(1)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GCTTCAGCACGATGTCTCTCC	0.537000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)				93			63		0	0	0.003610	0	0
TFPI2	7980	broad.mit.edu	37	7	93516149	93516149	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:93516149G>A	uc003umy.1	-	4	766	c.691C>T	c.(691-693)Cgg>Tgg	p.R231W	GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_3'UTR|TFPI2_uc003una.1_Missense_Mutation_p.R220W	NM_006528	NP_006519	P48307	TFPI2_HUMAN	Homo sapiens tissue factor pathway inhibitor 2 (TFPI2), mRNA.	231			R -> Q (in dbSNP:rs12669450).		blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			TGCTTCTTCCGAATTTTCCGG	0.328000														48			44		0	0	0.003610	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140264221	140264221	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:140264221G>A	uc003lif.2	+	0	2368	c.2368G>A	c.(2368-2370)Gag>Aag	p.E790K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Missense_Mutation_p.E790K|PCDHAC2_uc003lid.3_Missense_Mutation_p.E790K	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	837					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCCAGAGGGAGGAGGACTC	0.483000														19			18		0	0	0.001523	0	0
ZNF423	23090	broad.mit.edu	37	16	49671485	49671485	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:49671485G>A	uc002efs.3	-	4	1876	c.1578C>T	c.(1576-1578)ttC>ttT	p.F526F	ZNF423_uc010vgn.2_Silent_p.F409F	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	Homo sapiens zinc finger protein 423 (ZNF423), mRNA.	526					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				ACTCAGTAAGGAAACCCATGG	0.592000														1			26		0	0	0.004656	0	0
FXR1	8087	broad.mit.edu	37	3	180680855	180680855	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:180680855G>A	uc003fkq.3	+	12	1415	c.1175G>A	c.(1174-1176)gGa>gAa	p.G392E	FXR1_uc003fkp.3_Missense_Mutation_p.G307E|FXR1_uc003fkr.3_Missense_Mutation_p.G392E|FXR1_uc011bqj.2_Missense_Mutation_p.G306E|FXR1_uc003fks.3_Missense_Mutation_p.G335E|FXR1_uc011bqk.2_Missense_Mutation_p.G343E|FXR1_uc011bql.2_Missense_Mutation_p.G379E	NM_005087	NP_001013457	P51114	FXR1_HUMAN	Homo sapiens fragile X mental retardation, autosomal homolog 1 (FXR1), transcript variant 1, mRNA.	392					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			GGTCGTCGGGGACCTAATTAC	0.368000														46			20		0	0	0.002299	0	0
DNMT1	1786	broad.mit.edu	37	19	10250954	10250954	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:10250954C>T	uc002mng.3	-	31	3706	c.3526G>A	c.(3526-3528)Gcg>Acg	p.A1176T	DNMT1_uc002mnf.3_Missense_Mutation_p.A100T|DNMT1_uc010xlc.2_Missense_Mutation_p.A1192T|DNMT1_uc002mnh.3_Missense_Mutation_p.A1071T|DNMT1_uc010xld.2_Missense_Mutation_p.A1176T	NM_001379	NP_001370	P26358	DNMT1_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 2, mRNA.	1176	Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	AGCCGGAACGCCTGGGCCGCA	0.587000														27			20		0	0	0.002299	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17697522	17697522	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:17697522C>T	uc002rcl.1	-	0	2185	c.2161G>A	c.(2161-2163)Gaa>Aaa	p.E721K	RAD51AP2_uc010exn.1_Missense_Mutation_p.E712K	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.	721										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GCCCAATTTTCCACATTCACA	0.313000														35			30		0	0	0.001786	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576745	158576745	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:158576745G>A	uc010pio.2	+	0	517	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA.	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CAGCTCCCATGAAATCCAGCA	0.498000														26			11		0	0	0.001368	0	0
ALB	213	broad.mit.edu	37	4	74276044	74276044	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:74276044G>A	uc003hgs.4	+	5	704	c.631G>A	c.(631-633)Gat>Aat	p.D211N	ALB_uc011cbe.2_5'UTR|ALB_uc003hgw.4_Intron|ALB_uc011cbf.2_Missense_Mutation_p.D101N	NM_000477	NP_000468	P02768	ALBU_HUMAN	Homo sapiens albumin (ALB), mRNA.	211	Albumin 2.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	DNA binding|antioxidant activity|chaperone binding|copper ion binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	p.R210L(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	TGAACTTCGGGATGAAGGGAA	0.388000														46			21		0	0	0.001882	0	0
TTN	7273	broad.mit.edu	37	2	179636169	179636169	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:179636169G>A	uc021vsy.1	-	33	8110	c.7885C>T	c.(7885-7887)Cag>Tag	p.Q2629*	TTN_uc021vsz.1_Nonsense_Mutation_p.Q2583*|TTN_uc021vta.1_Nonsense_Mutation_p.Q2583*|TTN_uc021vtb.1_Nonsense_Mutation_p.Q2583*|TTN_uc002unb.2_Nonsense_Mutation_p.Q2629*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2629	Ig-like 15.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTACGGTCTGATCTGTGAGT	0.463000														26			16		0	0	0.004007	0	0
KIAA1199	57214	broad.mit.edu	37	15	81214393	81214393	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:81214393C>T	uc002bfw.1	+	15	2377	c.2117C>T	c.(2116-2118)cCc>cTc	p.P706L	KIAA1199_uc010unn.1_Missense_Mutation_p.P706L	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	Homo sapiens KIAA1199 (KIAA1199), mRNA.	706										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CCAACGGGCCCCTCCGTGGGA	0.507000														8			83		0	0	0.003610	0	0
DSCR6	53820	broad.mit.edu	37	21	38390454	38390455	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr21:38390454_38390455CC>TT	uc002yvv.3	+	3	730_731	c.520_521CC>TT	c.(520-522)ccg>TTg	p.P174L	DSCR6_uc011aec.2_Missense_Mutation_p.R61C|DSCR6_uc010gnd.3_Missense_Mutation_p.R61C	NM_018962	NP_061835	P57055	DSCR6_HUMAN	Homo sapiens Down syndrome critical region gene 6 (DSCR6), mRNA.	174						nucleus				NS(1)|breast(1)|kidney(2)|lung(3)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(46;0.0632)				GGGGGAGGGTCCGCTCCCTCAA	0.629000														42			14		0	0	0.004672	0	0
GPR82	27197	broad.mit.edu	37	X	41586559	41586559	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:41586559C>T	uc022bvd.1	+	0	280	c.280C>T	c.(280-282)Ctg>Ttg	p.L94L	CASK_uc004dfl.4_Intron|CASK_uc004dfm.4_Intron|CASK_uc004dfn.4_Intron|GPR82_uc004dfu.1_Non-coding_Transcript|GPR82_uc004dft.3_Silent_p.L94L	NM_080817	NP_543007	Q96P67	GPR82_HUMAN	Homo sapiens G protein-coupled receptor 82 (GPR82), mRNA.	94						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	10						GGTCAATTTTCTGGGAACTCT	0.398000														2			32		0	0	0.003755	0	0
MYBPC2	4606	broad.mit.edu	37	19	50939889	50939889	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:50939889C>T	uc002psf.2	+	4	412	c.361C>T	c.(361-363)Ctg>Ttg	p.L121L		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA.	121	Ig-like C2-type 1.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CACCGTGGAGCTGCACATTGG	0.592000														35			23		0	0	0.004656	0	0
FCRL5	83416	broad.mit.edu	37	1	157497523	157497524	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:157497523_157497524CC>TT	uc009wsm.3	-	8	2001_2002	c.1843_1844GG>AA	c.(1843-1845)gga>AAa	p.G615K	FCRL5_uc001fqu.3_Missense_Mutation_p.G615K|FCRL5_uc010phv.1_Missense_Mutation_p.G615K|FCRL5_uc010phw.1_Missense_Mutation_p.G530K	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	615	Ig-like C2-type 6.					integral to membrane|plasma membrane	receptor activity	p.G615G(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AGCTTCTCCTCCAGAGGGGGCT	0.545000														17			44		0	0	0.004672	0	0
DNAH2	146754	broad.mit.edu	37	17	7667200	7667200	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:7667200C>T	uc002giu.1	+	17	3044	c.3030C>T	c.(3028-3030)atC>atT	p.I1010I		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	1010	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TCACCAACATCCAGTTTGTGC	0.517000														43			16		0	0	0.007413	0	0
NAP1L3	4675	broad.mit.edu	37	X	92927628	92927628	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:92927628C>T	uc004efq.3	-	0	1055	c.676G>A	c.(676-678)Gaa>Aaa	p.E226K	FAM133A_uc022bzw.1_5'Flank|FAM133A_uc022bzu.1_5'Flank|FAM133A_uc004efr.2_5'Flank|FAM133A_uc022bzv.1_5'Flank	NM_004538	NP_004529	Q99457	NP1L3_HUMAN	Homo sapiens nucleosome assembly protein 1-like 3 (NAP1L3), mRNA.	226	Glu-rich.				nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						TCAGGAATTTCTTTAGGAACT	0.403000														32			32		0	0	0.003271	0	0
FAM209B	388799	broad.mit.edu	37	20	55111444	55111444	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:55111444C>T	uc010zzh.2	+	1	546	c.466C>T	c.(466-468)Cca>Tca	p.P156S	FAM209B_uc002xxz.3_Missense_Mutation_p.P156S	NM_001013646	NP_001013668	Q5JX69	CT107_HUMAN	Homo sapiens family with sequence similarity 209, member B (FAM209B), mRNA.	156						integral to membrane											GCCTGCAGATCCATACCATGT	0.433000														34			29		0	0	0.007291	0	0
KNDC1	85442	broad.mit.edu	37	10	135009173	135009173	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:135009173G>A	uc001llz.1	+	9	1583	c.1582G>A	c.(1582-1584)Gtg>Atg	p.V528M	KNDC1_uc001lma.1_Missense_Mutation_p.V463M|KNDC1_uc001lmb.1_5'Flank	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	528	KIND 2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CCAGGCCTCTGTGTACTGTGT	0.667000														8			13		0	0	0.001855	0	0
DRD2	1813	broad.mit.edu	37	11	113281576	113281576	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:113281576T>C	uc001pnz.3	-	6	1526	c.1205A>G	c.(1204-1206)aAc>aGc	p.N402S	DRD2_uc010rwv.2_Missense_Mutation_p.N401S|DRD2_uc001poa.4_Missense_Mutation_p.N402S|DRD2_uc001pob.4_Missense_Mutation_p.N373S	NM_000795	NP_000786	P14416	DRD2_HUMAN	Homo sapiens dopamine receptor D2 (DRD2), transcript variant 1, mRNA.	402					activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	AGGCGGGATGTTGCAGTCACA	0.567000														28			26		0	0	0.002096	0	0
CCDC88C	440193	broad.mit.edu	37	14	91755634	91755634	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:91755634T>A	uc010aty.3	-	24	4410	c.4256A>T	c.(4255-4257)aAa>aTa	p.K1419I		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	1419					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CGAACCCTCTTTCTTTGGTTT	0.562000														136			113		0	0	0.003610	0	0
DCHS2	54798	broad.mit.edu	37	4	155225956	155225956	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:155225956C>T	uc003inw.2	-	16	4105	c.4105G>A	c.(4105-4107)Gat>Aat	p.D1369N		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	1369	Cadherin 11.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GGTGCGTGATCGTTTTCATCT	0.448000														10			20		0	0	0.001882	0	0
NOTUM	147111	broad.mit.edu	37	17	79914583	79914583	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:79914583G>A	uc010wvg.2	-	7	1203	c.931C>T	c.(931-933)Cag>Tag	p.Q311*		NM_178493	NP_848588	Q6P988	NOTUM_HUMAN	Homo sapiens notum pectinacetylesterase homolog (Drosophila) (NOTUM), mRNA.	311						extracellular region	hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			TCGCCCTCCTGGAACTGGCGT	0.682000														0			26		0	0	0.001512	0	0
PLVAP	83483	broad.mit.edu	37	19	17471375	17471375	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:17471375G>A	uc002ngk.1	-	4	1324	c.1284C>T	c.(1282-1284)tcC>tcT	p.S428S		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	Homo sapiens plasmalemma vesicle associated protein (PLVAP), mRNA.	428						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGGGCCTCTGGGACTCCAGGA	0.597000														35			30		0	0	0.003271	0	0
CAMTA1	23261	broad.mit.edu	37	1	7723499	7723499	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:7723499G>A	uc001aoi.3	+	8	1099	c.892G>A	c.(892-894)Ggg>Agg	p.G298R		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	298					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		AGGGGGGTACGGGAGCCACTC	0.637000			T	WWTR1	epitheliod hemangioendothelioma									98			29		0	0	0.002096	0	0
JPH4	84502	broad.mit.edu	37	14	24040606	24040606	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:24040606C>T	uc001wkq.2	-	5	2252	c.1334G>A	c.(1333-1335)gGg>gAg	p.G445E	JPH4_uc010tnr.1_Missense_Mutation_p.G110E|JPH4_uc001wkr.2_Missense_Mutation_p.G445E	NM_032452	NP_115828	Q96JJ6	JPH4_HUMAN	Homo sapiens junctophilin 4 (JPH4), transcript variant 1, mRNA.	445					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CTCATATACCCCAGGGCTGTC	0.647000														18			19		0	0	0.001216	0	0
DMBT1	1755	broad.mit.edu	37	10	124345823	124345824	+	Silent	DNP	CT	TC	TC			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:124345823_124345824CT>TC	uc001lgk.1	+	15	1813_1814	c.1707_1708CT>TC	c.(1705-1710)tacttg>taTCtg	p.569_570YL>YL	DMBT1_uc001lgl.1_Silent_p.559_560YL>YL|DMBT1_uc001lgm.1_Intron|DMBT1_uc021qaf.1_Silent_p.569_570YL>YL|DMBT1_uc021qag.1_Silent_p.559_560YL>YL|DMBT1_uc021qah.1_Intron|DMBT1_uc009xzz.1_Silent_p.569_570YL>YL|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Intron	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	569	SRCR 4.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ATGAGTCCTACTTGTGGAGCTG	0.584000														55			39		0	0	0.004672	0	0
MUC17	140453	broad.mit.edu	37	7	100686596	100686596	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:100686596A>G	uc003uxp.1	+	2	11952	c.11899A>G	c.(11899-11901)Act>Gct	p.T3967A	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3967						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCCTGTGATAACTTCCACTGA	0.453000														45			37		0	0	0.006230	0	0
CENPE	1062	broad.mit.edu	37	4	104079788	104079788	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:104079788G>A	uc003hxb.1	-	22	2947	c.2857C>T	c.(2857-2859)Cac>Tac	p.H953Y	CENPE_uc003hxc.1_Missense_Mutation_p.H928Y	NM_001813	NP_001804	Q02224	CENPE_HUMAN	Homo sapiens centromere protein E, 312kDa (CENPE), mRNA.	953					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		ACAGTATCGTGAATATCACTT	0.299000														34			23		0	0	0.002096	0	0
OR52K2	119774	broad.mit.edu	37	11	4470611	4470611	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:4470611C>T	uc001lyz.2	+	0	87	c.42C>T	c.(40-42)ttC>ttT	p.F14F		NM_001005172	NP_001005172	Q8NGK3	O52K2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily K, member 2 (OR52K2), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAACTGCCTTCTTGTTGGTGG	0.507000														17			16		0	0	0.006122	0	0
SLC9A2	6549	broad.mit.edu	37	2	103274237	103274237	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:103274237G>A	uc002tca.3	+	1	646	c.504G>A	c.(502-504)acG>acA	p.T168T		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	168						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						ACATTGGCACGATTTTCTGGT	0.488000														68			103		0	0	0.003610	0	0
SLC38A4	55089	broad.mit.edu	37	12	47170749	47170749	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:47170749G>A	uc001rpi.2	-	12	1511	c.1112C>T	c.(1111-1113)tCc>tTc	p.S371F	SLC38A4_uc001rpj.2_Missense_Mutation_p.S371F	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA.	371					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CCCCGTGATGGAAATATTTGA	0.398000														4			10		0	0	0.000978	0	0
TET1	80312	broad.mit.edu	37	10	70446175	70446175	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:70446175C>T	uc001jok.4	+	10	5620	c.5115C>T	c.(5113-5115)ctC>ctT	p.L1705L		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	1705					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						ATGAGCAGCTCCATGTGCTAC	0.453000														55			33		0	0	0.005524	0	0
ACSM4	341392	broad.mit.edu	37	12	7463136	7463136	+	Splice_Site	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:7463136G>A	uc001qsx.1	+	3	413	c.413_splice	c.e3-1	p.G138_splice		NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA.	138					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						CCTTCCCAGGGATCATCTTCA	0.547000														1			4		0	0	0.000248	0	0
ITFG2	55846	broad.mit.edu	37	12	2932953	2932953	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:2932953G>A	uc001qlb.2	+	10	1224	c.1084G>A	c.(1084-1086)Gag>Aag	p.E362K	ITFG2_uc010seb.2_Missense_Mutation_p.E185K|ITFG2_uc010sec.2_Non-coding_Transcript	NM_018463	NP_060933	Q969R8	ITFG2_HUMAN	Homo sapiens integrin alpha FG-GAP repeat containing 2 (ITFG2), mRNA.	362										central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			CGCCTGCAAAGAGGGCCGCAA	0.552000														76			104		0	0	0.003610	0	0
DCST1	149095	broad.mit.edu	37	1	155014088	155014088	+	Splice_Site	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:155014088C>T	uc001fgn.2	+	7	862	c.748_splice	c.e7+1	p.Y250_splice	DCST1_uc010per.2_Splice_Site_p.Y275_splice|DCST1_uc010pes.2_Splice_Site_p.Y225_splice	NM_152494	NP_689707	Q5T197	DCST1_HUMAN	Homo sapiens DC-STAMP domain containing 1 (DCST1), transcript variant 1, mRNA.	250						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TGCGTTGCTCCTGTGAGGGGT	0.612000														62			11		0	0	0.000978	0	0
NT5C1A	84618	broad.mit.edu	37	1	40129001	40129001	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:40129001C>T	uc001cdq.1	-	3	539	c.539G>A	c.(538-540)cGa>cAa	p.R180Q		NM_032526	NP_115915	Q9BXI3	5NT1A_HUMAN	Homo sapiens 5'-nucleotidase, cytosolic IA (NT5C1A), mRNA.	180					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AATGGCTTCTCGCACTTTTTC	0.537000														19			45		0	0	0.003610	0	0
RCVRN	5957	broad.mit.edu	37	17	9808472	9808472	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:9808472A>C	uc002gme.1	-	0	213	c.26T>G	c.(25-27)cTg>cGg	p.L9R		NM_002903	NP_002894	P35243	RECO_HUMAN	Homo sapiens recoverin (RCVRN), mRNA.	9					visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						CTCCTTGGACAGGGCCCCACT	0.642000														10			3		0	0	0.004672	0	0
RPS27	6232	broad.mit.edu	37	1	153963240	153963240	+	Splice_Site	SNP	T	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:153963240T>G	uc001fdv.3	+	1	1	c.-33_splice	c.e1-1			NM_001030	NP_001021	P42677	RS27_HUMAN	Homo sapiens ribosomal protein S27 (RPS27), mRNA.						cell proliferation|endocrine pancreas development|mitotic prometaphase|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus	DNA binding|structural constituent of ribosome|zinc ion binding			kidney(1)	1	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTTTCGCTCCTTTCCGGCGGT	0.537000														33			9		0	0	0.000673	0	0
CDK12	51755	broad.mit.edu	37	17	37672045	37672045	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:37672045C>T	uc010cvv.3	+	8	3416	c.2830C>T	c.(2830-2832)Cag>Tag	p.Q944*	CDK12_uc010wef.1_Nonsense_Mutation_p.Q943*|CDK12_uc002hrw.4_Nonsense_Mutation_p.Q944*	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Homo sapiens cyclin-dependent kinase 12 (CDK12), transcript variant 1, mRNA.	944	Protein kinase.				RNA splicing|mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GGAACTGGCTCAGCTAGAACT	0.408000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)				22			25		0	0	0.007291	0	0
MGAM	8972	broad.mit.edu	37	7	141755448	141755448	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:141755448G>A	uc003vwy.3	+	27	3459	c.3405G>A	c.(3403-3405)ggG>ggA	p.G1135G		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1135	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATGGCTTTGGGGAAACTGAGC	0.537000														45			41		0	0	0.002522	0	0
GRM1	2911	broad.mit.edu	37	6	146350677	146350677	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:146350677T>A	uc010khw.1	+	1	494	c.24T>A	c.(22-24)ttT>ttA	p.F8L	GRM1_uc010khu.1_Missense_Mutation_p.F8L|GRM1_uc010khv.1_Missense_Mutation_p.F8L|GRM1_uc003qll.2_Missense_Mutation_p.F8L|GRM1_uc011edz.1_Missense_Mutation_p.F8L|GRM1_uc011eea.1_Missense_Mutation_p.F8L	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	8					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TTTTGTTTTTTTTCCCAGCGA	0.642000														76			85		0	0	0.003610	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20893254	20893254	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:20893254C>T	uc010sii.2	+	12	2040	c.1685C>T	c.(1684-1686)tCc>tTc	p.S562F	SLCO1C1_uc010sij.2_Missense_Mutation_p.S513F|SLCO1C1_uc009zip.3_Missense_Mutation_p.S396F|SLCO1C1_uc001rei.3_Missense_Mutation_p.S562F|SLCO1C1_uc010sik.2_Missense_Mutation_p.S444F	NM_001145946	NP_001139416	Q9NYB5	SO1C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1C1 (SLCO1C1), transcript variant 1, mRNA.	562					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					GTCATCACATCCTATACTTTA	0.388000														65			12		0	0	0.004007	0	0
TTF1	7270	broad.mit.edu	37	9	135275536	135275536	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:135275536A>C	uc004cbl.3	-	2	1546	c.1477T>G	c.(1477-1479)Tct>Gct	p.S493A	TTF1_uc004cbm.3_5'UTR|TTF1_uc011mcp.2_Non-coding_Transcript	NM_007344	NP_031370	Q15361	TTF1_HUMAN	Homo sapiens transcription termination factor, RNA polymerase I (TTF1), transcript variant 1, mRNA.	493					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		TTCACGGCAGAACCCAAATCC	0.463000														31			60		0	0	0.003610	0	0
MYH8	4626	broad.mit.edu	37	17	10317709	10317709	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:10317709G>A	uc002gmm.2	-	9	993	c.898C>T	c.(898-900)Cta>Tta	p.L300L	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	300	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTACCAATTAGATCTGGCTTC	0.328000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					18			4		0	0	0.000248	0	0
WBP11	51729	broad.mit.edu	37	12	14941977	14941978	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:14941977_14941978GG>AA	uc001rci.3	-	10	1560_1561	c.1399_1400CC>TT	c.(1399-1401)ccc>TTc	p.P467F		NM_016312	NP_057396	Q9Y2W2	WBP11_HUMAN	Homo sapiens WW domain binding protein 11 (WBP11), mRNA.	467	Pro-rich.				RNA splicing|mRNA processing|rRNA processing	cytoplasm	WW domain binding|single-stranded DNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						AGGGCCAGGGGGTCGGCCTGGT	0.649000														12			26		0	0	0.004672	0	0
abParts	0	broad.mit.edu	37	14	106378215	106378215	+	Splice_Site	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:106378215G>A	uc021ser.1	-	3389		c.53678_splice	c.e3389-1		KIAA0125_uc001ysq.3_Intron|KIAA0125_uc001ysr.3_Intron|KIAA0125_uc001yss.3_Intron					Parts of antibodies, mostly variable regions.																		AGGGAATAGAGAGGGTCCAGA	0.622000														10			10		0	0	0.000673	0	0
ZNF614	80110	broad.mit.edu	37	19	52521670	52521670	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:52521670G>A	uc002pyj.3	-	2	495	c.93C>T	c.(91-93)aaC>aaT	p.N31N	ZNF614_uc002pyi.4_Silent_p.N31N|ZNF614_uc010epj.3_5'UTR	NM_025040	NP_079316	Q8N883	ZN614_HUMAN	Homo sapiens zinc finger protein 614 (ZNF614), mRNA.	31	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CCCGGTACAGGTTCTTCTGAG	0.498000														61			21		0	0	0.002299	0	0
UGT1A1	54658	broad.mit.edu	37	2	234591146	234591146	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:234591146C>T	uc002vut.3	+	0	563	c.563C>T	c.(562-564)tCc>tTc	p.S188F	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Missense_Mutation_p.S188F	NM_019077	NP_061950	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A7 (UGT1A7), mRNA.	191					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	GCTCCTCTTTCCTATGTCCCC	0.473000														84			55		0	0	0.003610	0	0
PLCB1	23236	broad.mit.edu	37	20	8707983	8707983	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:8707983C>T	uc002wnb.3	+	16	1709	c.1706C>T	c.(1705-1707)tCc>tTc	p.S569F	PLCB1_uc010zrb.1_Missense_Mutation_p.S468F|PLCB1_uc002wna.3_Missense_Mutation_p.S569F|PLCB1_uc002wnc.1_Missense_Mutation_p.S468F|PLCB1_uc002wnd.1_Missense_Mutation_p.S146F	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	569	PI-PLC Y-box.				CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GAAATGTCTTCCTTCGTGGAA	0.343000														11			5		0	0	0.000602	0	0
HCN3	57657	broad.mit.edu	37	1	155254519	155254519	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:155254519G>A	uc001fjz.1	+	3	1068	c.1060G>A	c.(1060-1062)Gac>Aac	p.D354N	HCN3_uc010pfz.1_Missense_Mutation_p.D49N	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 3 (HCN3), mRNA.	354						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCAGTCCCTGGACTCTTCCCG	0.612000														23			7		0	0	0.001984	0	0
PPP1R3F	89801	broad.mit.edu	37	X	49143444	49143444	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:49143444C>T	uc004dnh.2	+	3	2319	c.2292C>T	c.(2290-2292)acC>acT	p.T764T	PPP1R3F_uc004dni.3_Silent_p.T418T|PPP1R3F_uc011mnd.2_Silent_p.T435T|PPP1R3F_uc004dnj.2_Silent_p.T418T	NM_033215	NP_149992	Q6ZSY5	PPR3F_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3F (PPP1R3F), transcript variant 1, mRNA.	764						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					GGCCCTTGACCCAGACTCTGG	0.632000														2			26		0	0	0.001512	0	0
RGS8	85397	broad.mit.edu	37	1	182615997	182615997	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:182615997G>A	uc010pnw.1	-	6	674	c.416C>T	c.(415-417)tCc>tTc	p.S139F	RGS8_uc001gpn.1_Missense_Mutation_p.S139F|RGS8_uc001gpm.1_Missense_Mutation_p.S157F	NM_001102450	NP_001095920	P57771	RGS8_HUMAN	Homo sapiens regulator of G-protein signaling 8 (RGS8), transcript variant 2, mRNA.	139	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						GCAAGTCAGGGATGGCTCCTG	0.507000														42			89		0	0	0.003610	0	0
LRRC33	375387	broad.mit.edu	37	3	196386645	196386645	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:196386645G>A	uc003fwv.3	+	2	235	c.131G>A	c.(130-132)cGa>cAa	p.R44Q		NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	Homo sapiens leucine rich repeat containing 33 (LRRC33), mRNA.	44						integral to membrane				NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(17)|ovary(3)|prostate(3)	40	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		GCTGACTGCCGAGGGCAGAGC	0.617000														8			10		0	0	0.000673	0	0
CPA1	1357	broad.mit.edu	37	7	130020994	130020994	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:130020994G>A	uc003vpx.3	+	1	193	c.121G>A	c.(121-123)Gag>Aag	p.E41K	CPA1_uc011kpf.1_5'UTR|CPA1_uc003vpw.2_Missense_Mutation_p.E41K	NM_001868	NP_001859	P15085	CBPA1_HUMAN	Homo sapiens carboxypeptidase A1 (pancreatic) (CPA1), mRNA.	41					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					GAAGGTGAAGGAGCTGGAGGA	0.642000														16			10		0	0	0.000673	0	0
LTBP1	4052	broad.mit.edu	37	2	33498821	33498821	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:33498821T>C	uc021vft.1	+	15	2739	c.2716T>C	c.(2716-2718)Ttc>Ctc	p.F906L	LTBP1_uc002rou.3_Missense_Mutation_p.F580L|LTBP1_uc002rov.3_Missense_Mutation_p.F527L|LTBP1_uc010ymz.2_Missense_Mutation_p.F580L|LTBP1_uc010yna.2_Missense_Mutation_p.F527L	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	906	EGF-like 4; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GGGCTACAGGTTCAGTGAACA	0.353000														10			3		0	0	0.001168	0	0
MS4A2	2206	broad.mit.edu	37	11	59857903	59857903	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:59857903C>A	uc001nop.3	+	2	383	c.281C>A	c.(280-282)tCa>tAa	p.S94*	MS4A2_uc009ymu.3_Nonsense_Mutation_p.S94*|MS4A2_uc021qka.1_Intron	NM_000139	NP_000130	Q01362	FCERB_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide) (MS4A2), mRNA.	94					cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity			endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	GACATTTTTTCATCATTTAAA	0.343000														62			44		1.35964e-18	1.90232e-18	0.003610	1	0
LRFN2	57497	broad.mit.edu	37	6	40399681	40399681	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:40399681G>A	uc003oph.1	-	1	1637	c.1172C>T	c.(1171-1173)cCc>cTc	p.P391L		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	391						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGACTTGGGGGGTGCAGTGCG	0.667000														47			10		0	0	0.001855	0	0
SMARCC2	6601	broad.mit.edu	37	12	56563639	56563639	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:56563639C>T	uc001skb.3	-	22	2482	c.2376G>A	c.(2374-2376)gaG>gaA	p.E792E	SMARCC2_uc001skd.3_Silent_p.E823E|SMARCC2_uc001ska.3_Silent_p.E823E|SMARCC2_uc001skc.3_Silent_p.E822E|SMARCC2_uc010sqf.2_Silent_p.E712E	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 (SMARCC2), transcript variant 1, mRNA.	792	Glu-rich.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TCTTGGGAGCCTCGCTGGTTT	0.512000														29			42		0	0	0.002522	0	0
C1R	715	broad.mit.edu	37	12	7241295	7241295	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:7241295C>T	uc010sfy.2	-	6	1008	c.949G>A	c.(949-951)Gag>Aag	p.E317K	C1R_uc010sfz.1_Missense_Mutation_p.E331K|C1R_uc021quh.1_Missense_Mutation_p.E206K|C1R_uc010sga.1_Missense_Mutation_p.E283K	NM_001733	NP_001724	P00736	C1R_HUMAN	Homo sapiens complement component 1, r subcomponent (C1R), mRNA.	317	Sushi 1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ATGGTGAACTCGTCTAGGGTC	0.532000														5			8		0	0	0.004482	0	0
ACER2	340485	broad.mit.edu	37	9	19446396	19446396	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:19446396C>T	uc003zny.1	+	4	779	c.621C>T	c.(619-621)ttC>ttT	p.F207F	ACER2_uc003znx.1_Non-coding_Transcript|ACER2_uc003znz.1_Silent_p.F158F	NM_001010887	NP_001010887	Q5QJU3	ACER2_HUMAN	Homo sapiens alkaline ceramidase 2 (ACER2), mRNA.	207					ceramide metabolic process|negative regulation of cell adhesion mediated by integrin|negative regulation of cell-matrix adhesion|negative regulation of protein glycosylation in Golgi|positive regulation of cell proliferation|response to retinoic acid|sphingosine biosynthetic process	integral to Golgi membrane	ceramidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	13						CCTTCAACTTCCCCTACCTGC	0.587000														16			35		0	0	0.005524	0	0
CCDC37	348807	broad.mit.edu	37	3	126137366	126137366	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:126137366C>T	uc010hsg.1	+	4	546	c.487C>T	c.(487-489)Cag>Tag	p.Q163*	CCDC37_uc003eiu.1_Nonsense_Mutation_p.Q162*	NM_182628	NP_872434	Q494V2	CCD37_HUMAN	Homo sapiens coiled-coil domain containing 37 (CCDC37), mRNA.	162										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		GTTCCTCCTCCAGGTAGGTCC	0.607000														14			4		0	0	0.000602	0	0
KIAA0100	9703	broad.mit.edu	37	17	26969291	26969291	+	Splice_Site	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:26969291A>G	uc002hbu.3	-	6	679	c.576_splice	c.e6+1	p.L192_splice	KIAA0100_uc002hbv.3_Splice_Site_p.L192_splice|KIAA0100_uc010crr.2_Splice_Site_p.L49_splice	NM_014680	NP_055495	Q14667	K0100_HUMAN	Homo sapiens KIAA0100 (KIAA0100), mRNA.	192						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TGGCATACTTACCAGCTGACC	0.458000														24			7		0	0	0.003080	0	0
MLLT4	4301	broad.mit.edu	37	6	168272950	168272950	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:168272950C>T	uc021zik.1	+	3	667	c.348C>T	c.(346-348)ttC>ttT	p.F116F	MLLT4_uc003qwb.1_Silent_p.F156F|MLLT4_uc003qwc.2_Silent_p.F157F|MLLT4_uc021zij.1_Silent_p.F156F	NM_001040000	NP_001035089	P55196	AFAD_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.	157	Ras-associating 1.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TCCAGAACTTCAAGAGAACTC	0.383000			T	MLL	AL									38			33		0	0	0.002836	0	0
SLC22A14	9389	broad.mit.edu	37	3	38350536	38350536	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:38350536C>T	uc003cib.2	+	3	940	c.867C>T	c.(865-867)atC>atT	p.I289I	SLC22A14_uc010hhc.1_Silent_p.I289I|SLC22A14_uc011ayo.1_Non-coding_Transcript	NM_004803	NP_004794	Q9Y267	S22AE_HUMAN	Homo sapiens solute carrier family 22, member 14 (SLC22A14), mRNA.	289						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		TGACAGGGATCGCCTACAGTC	0.567000														34			41		0	0	0.003610	0	0
DGCR14	8220	broad.mit.edu	37	22	19124933	19124933	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:19124933G>A	uc002zou.3	-	7	975	c.938C>T	c.(937-939)tCc>tTc	p.S313F		NM_022719	NP_073210	Q96DF8	DGC14_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 14 (DGCR14), mRNA.	313					nervous system development	catalytic step 2 spliceosome		p.E312K(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					CATCATCGGGGACTCGTTCAC	0.582000														50			41		0	0	0.002222	0	0
DSP	1832	broad.mit.edu	37	6	7583554	7583554	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:7583554G>A	uc003mxp.1	+	23	6338	c.6059G>A	c.(6058-6060)gGa>gAa	p.G2020E	DSP_uc003mxq.1_Missense_Mutation_p.G1421E|DSP_uc021yle.1_Missense_Mutation_p.G1577E	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2020	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	p.A2019T(1)		biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TCTATCGCTGGAGCATCTGCT	0.468000														28			9		0	0	0.004482	0	0
GIP	2695	broad.mit.edu	37	17	47044511	47044511	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:47044511G>A	uc002iol.1	-	1	182	c.84C>T	c.(82-84)ttC>ttT	p.F28F		NM_004123	NP_004114	P09681	GIP_HUMAN	Homo sapiens gastric inhibitory polypeptide (GIP), mRNA.	28					energy reserve metabolic process|signal transduction	extracellular region|soluble fraction	hormone activity			lung(2)|skin(1)|stomach(1)	4						ACTCCTACCTGAAGTGACCCT	0.532000														39			38		0	0	0.006999	0	0
ITPR2	3709	broad.mit.edu	37	12	26868252	26868252	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:26868252T>A	uc001rhg.3	-	7	1252	c.835A>T	c.(835-837)Aaa>Taa	p.K279*		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	279	MIR 3.				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CAGAGTGCTTTAGAACTAGTA	0.348000														33			9		0	0	0.006214	0	0
CHRM3	1131	broad.mit.edu	37	1	240072373	240072373	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:240072373C>T	uc021plc.1	+	0	1622	c.1622C>T	c.(1621-1623)cCc>cTc	p.P541L	CHRM3_uc001hyp.3_Missense_Mutation_p.P541L	NM_000740	NP_000731	P20309	ACM3_HUMAN	Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	541					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	ACCGTGAACCCCGTGTGCTAT	0.483000														10			37		0	0	0.007835	0	0
USP6	9098	broad.mit.edu	37	17	5051934	5051934	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:5051934G>A	uc002gau.1	+	29	4745	c.2515G>A	c.(2515-2517)Gga>Aga	p.G839R	USP6_uc002gav.1_Missense_Mutation_p.G839R|USP6_uc010ckz.1_Missense_Mutation_p.G522R	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	839					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CATCCCCAATGGAATGCCAAA	0.428000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts									31			42		0	0	0.003610	0	0
SLC25A39	51629	broad.mit.edu	37	17	42397637	42397637	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:42397637G>A	uc002ign.2	-	10	1045	c.891C>T	c.(889-891)ccC>ccT	p.P297P	SLC25A39_uc002igm.2_Silent_p.P289P|SLC25A39_uc010wiw.1_Silent_p.P274P	NM_001143780	NP_001137252	Q9BZJ4	S2539_HUMAN	Homo sapiens solute carrier family 25, member 39 (SLC25A39), transcript variant 1, mRNA.	297					heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CCACATGCAGGGGGTTCACTG	0.662000														29			23		0	0	0.002780	0	0
CDHR1	92211	broad.mit.edu	37	10	85974289	85974289	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:85974289C>T	uc001kcv.3	+	16	2597	c.2492C>T	c.(2491-2493)aCt>aTt	p.T831I	CDHR1_uc001kcw.3_Intron|CDHR1_uc009xst.3_Missense_Mutation_p.T535I|CDHR1_uc001kcx.3_Missense_Mutation_p.T145I	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	Homo sapiens cadherin-related family member 1 (CDHR1), transcript variant 1, mRNA.	831					homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						AAACCCAAAACTATGGGAAGC	0.567000														29			37		0	0	0.006999	0	0
IDS	3423	broad.mit.edu	37	X	148568501	148568501	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:148568501G>A	uc011mxe.2	-	7	1352	c.1135C>T	c.(1135-1137)Cct>Tct	p.P379S	IDS_uc011mxd.2_Intron|IDS_uc011mxf.2_Missense_Mutation_p.P289S|IDS_uc011mxg.2_Missense_Mutation_p.P168S|IDS_uc010nsu.2_5'UTR|IDS_uc004fcw.4_Missense_Mutation_p.P168S	NM_000202	NP_000193	P22304	IDS_HUMAN	Homo sapiens iduronate 2-sulfatase (IDS), transcript variant 1, mRNA.	379						lysosome	iduronate-2-sulfatase activity|metal ion binding			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TCGAGGTAAGGGAAAAGCTTC	0.443000														0			23		0	0	0.006320	0	0
PNLIP	5406	broad.mit.edu	37	10	118315535	118315535	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:118315535A>T	uc001lcm.3	+	8	878	c.835A>T	c.(835-837)Aat>Tat	p.N279Y		NM_000936	NP_000927	P16233	LIPP_HUMAN	Homo sapiens pancreatic lipase (PNLIP), mRNA.	279					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	TGCGGCCTGTAATCACTTAAG	0.408000														55			37		0	0	0.006230	0	0
FCHSD2	9873	broad.mit.edu	37	11	72579048	72579048	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:72579048G>A	uc009ytl.3	-	12	1391	c.1170C>T	c.(1168-1170)gcC>gcT	p.A390A	FCHSD2_uc010rrg.2_Silent_p.A254A|FCHSD2_uc001oth.4_Silent_p.A334A|FCHSD2_uc001oti.2_Silent_p.A349A	NM_014824	NP_055639	O94868	FCSD2_HUMAN	Homo sapiens FCH and double SH3 domains 2 (FCHSD2), mRNA.	390							protein binding			endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			GGTCCAACCGGGCTTCAGCTT	0.413000														214			186		0	0	0.003610	0	0
ATP9A	10079	broad.mit.edu	37	20	50346390	50346390	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:50346390A>T	uc002xwg.1	-	1	196	c.196T>A	c.(196-198)Ttc>Atc	p.F66I	ATP9A_uc010gih.1_Missense_Mutation_p.F51I	NM_006045	NP_006036	O75110	ATP9A_HUMAN	Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA.	66					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.F65L(1)		breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						AGAAAGGTGAAGAAATTGTAC	0.502000														40			31		0	0	0.002445	0	0
HYDIN	54768	broad.mit.edu	37	GL000192.1	199588	199588	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrGL000192.1:199588C>T	uc010yii.1	-	6	1053	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K	HYDIN_uc010yih.1_Non-coding_Transcript			Q4G0P3	HYDIN_HUMAN	Homo sapiens mRNA for KIAA1864 protein, partial cds.	1976										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TCCTCCTCTTCCTCTAGGTAG	0.453000														38			15		0	0	0.004656	0	0
LST1	7940	broad.mit.edu	37	6	31555456	31555456	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:31555456C>T	uc010jsw.3	+	0	39	c.35C>T	c.(34-36)cCt>cTt	p.P12L	LST1_uc021yus.1_Silent_p.L20L|LST1_uc003nut.3_Intron|LST1_uc003nuo.3_Intron|LST1_uc003nup.3_Intron|LST1_uc010jss.2_Silent_p.L20L|LST1_uc003nuq.3_Intron|LST1_uc003nuu.3_Non-coding_Transcript|LST1_uc021yut.1_Intron|LST1_uc010jst.2_Intron|LST1_uc010jsu.2_Silent_p.L20L|LST1_uc010jsx.3_Silent_p.L20L|LST1_uc003nus.3_Intron	NM_205838	NP_995310	O00453	LST1_HUMAN	Homo sapiens leukocyte specific transcript 1 (LST1), transcript variant 3, mRNA.	0					cell morphogenesis|dendrite development|immune response|negative regulation of lymphocyte proliferation|regulation of cell shape	Golgi membrane|integral to membrane	protein binding			large_intestine(1)	1						GGGCGGGCTCCTGCTTCTGGC	0.627000														8			7		0	0	0.004482	0	0
CA10	56934	broad.mit.edu	37	17	49710991	49710991	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:49710991G>A	uc002itv.4	-	8	1564	c.828C>T	c.(826-828)ctC>ctT	p.L276L	CA10_uc002itw.4_Silent_p.L270L|CA10_uc002itx.4_Silent_p.L270L|CA10_uc002ity.4_Silent_p.L270L|CA10_uc002itz.2_Silent_p.L270L	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	Homo sapiens carbonic anhydrase X (CA10), transcript variant 2, mRNA.	270					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			GGTTCTGGCTGAGCAGGCGCA	0.507000														38			20		0	0	0.002299	0	0
OR5K2	402135	broad.mit.edu	37	3	98216788	98216788	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:98216788G>A	uc011bgx.2	+	0	264	c.264G>A	c.(262-264)gaG>gaA	p.E88E		NM_001004737	NP_001004737	Q8NHB8	OR5K2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 2 (OR5K2), mRNA.	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TCTTTTCTGAGGGCAAAAGGA	0.438000														37			14		0	0	0.002450	0	0
OR1G1	8390	broad.mit.edu	37	17	3030132	3030132	+	Silent	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:3030132A>G	uc002fvc.1	-	0	714	c.714T>C	c.(712-714)ttT>ttC	p.F238F		NM_003555	NP_003546	P47890	OR1G1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily G, member 1 (OR1G1), mRNA.	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						TGCAGGTGGAAAAGGCTTTCC	0.493000														12			7		0	0	0.004482	0	0
TCP10	6953	broad.mit.edu	37	6	167786826	167786826	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:167786826G>A	uc003qvv.1	-	7	1024	c.812C>T	c.(811-813)tCt>tTt	p.S271F	TCP10_uc003qvu.3_Intron	NM_004610	NP_004601	Q12799	TCP10_HUMAN	Homo sapiens t-complex 10 homolog (mouse) (TCP10), mRNA.	298						cytosol		p.P270T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		TTCCAGGGAAGATGGTGGGTT	0.493000														70			9		0	0	0.004990	0	0
AQP9	366	broad.mit.edu	37	15	58471531	58471531	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:58471531T>C	uc002aez.2	+	4	1057	c.700T>C	c.(700-702)Ttt>Ctt	p.F234L	ALDH1A2_uc010ugw.2_Intron|AQP9_uc010ugx.1_Missense_Mutation_p.F169L	NM_020980	NP_066190	O43315	AQP9_HUMAN	Homo sapiens aquaporin 9 (AQP9), mRNA.	234					cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		AGGCTGGGGGTTTGAAGTCTT	0.557000														7			4		0	0	0.000248	0	0
SLC17A9	63910	broad.mit.edu	37	20	61588800	61588800	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:61588800G>A	uc002yea.4	+	2	449	c.265G>A	c.(265-267)Ggt>Agt	p.G89S	SLC17A9_uc002ydz.4_Missense_Mutation_p.G83S|SLC17A9_uc011aap.1_Missense_Mutation_p.G109S	NM_022082	NP_071365	Q9BYT1	S17A9_HUMAN	Homo sapiens solute carrier family 17, member 9 (SLC17A9), mRNA.	89					exocytosis|transmembrane transport	integral to membrane	transporter activity	p.G89G(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						CAGGATTGGGGGTGAGAAGGT	0.642000														17			17		0	0	0.006122	0	0
EREG	2069	broad.mit.edu	37	4	75250454	75250454	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:75250454C>T	uc003hie.1	+	4	605	c.439C>T	c.(439-441)Cga>Tga	p.R147*		NM_001432	NP_001423	O14944	EREG_HUMAN	Homo sapiens epiregulin (EREG), mRNA.	147	Arg/Lys-rich (basic).		R -> Q (in dbSNP:rs35275884).		angiogenesis|cell-cell signaling|cytokine-mediated signaling pathway|epidermal growth factor receptor signaling pathway|female meiosis|keratinocyte differentiation|keratinocyte proliferation|luteinizing hormone signaling pathway|mRNA transcription|negative regulation of epithelial cell proliferation|negative regulation of smooth muscle cell differentiation|negative regulation of transcription, DNA-dependent|oocyte maturation|organ morphogenesis|ovarian cumulus expansion|ovulation|positive regulation of DNA replication|positive regulation of cell division|positive regulation of cytokine production|positive regulation of epidermal growth factor receptor activity|positive regulation of fibroblast proliferation|positive regulation of innate immune response|positive regulation of interleukin-6 biosynthetic process|positive regulation of mitosis|positive regulation of phosphorylation|positive regulation of smooth muscle cell proliferation|primary follicle stage|wound healing	extracellular space|integral to plasma membrane	epidermal growth factor receptor binding|growth factor activity	p.R147R(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13			Lung(101;0.196)			GTACAGAAATCGAAAAAGTAA	0.418000														9			22		0	0	0.002780	0	0
SCYL2	55681	broad.mit.edu	37	12	100708392	100708392	+	Splice_Site	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:100708392G>A	uc001thn.3	+	8	1145	c.1095_splice	c.e8+1	p.K365_splice	SCYL2_uc009ztw.1_Splice_Site_p.K192_splice|SCYL2_uc001thm.1_Splice_Site_p.K365_splice	NM_017988	NP_060458	Q6P3W7	SCYL2_HUMAN	Homo sapiens SCY1-like 2 (S. cerevisiae) (SCYL2), mRNA.	365					endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	Golgi apparatus|clathrin-coated vesicle|endosome membrane|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						AACTGCCCAAGGTTTGTTATT	0.299000														17			24		0	0	0.005443	0	0
DSPP	1834	broad.mit.edu	37	4	88533290	88533290	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:88533290G>A	uc003hqu.3	+	2	205	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K		NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN	Homo sapiens dentin sialophosphoprotein (DSPP), mRNA.	29					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		GAGACATGTCGAAAAATCCAT	0.368000														4			10		0	0	0.000673	0	0
HTR2B	3357	broad.mit.edu	37	2	231973839	231973839	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:231973839T>A	uc002vro.3	-	3	1343	c.838A>T	c.(838-840)Aag>Tag	p.K280*	PSMD1_uc002vrn.2_Intron|PSMD1_uc002vrm.2_Intron|PSMD1_uc010fxu.2_Intron|HTR2B_uc010fxv.3_Nonsense_Mutation_p.K213*	NM_000867	NP_000858	P41595	5HT2B_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2B (HTR2B), mRNA.	280					ERK1 and ERK2 cascade|G-protein coupled receptor internalization|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cGMP biosynthetic process|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|embryonic morphogenesis|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	G-protein alpha-subunit binding|Ras GTPase activator activity|calcium channel activity|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)	ATTGCCACCTTTTCCGGTGAC	0.463000														71			27		0	0	0.002836	0	0
TRPM4	54795	broad.mit.edu	37	19	49713561	49713561	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:49713561C>T	uc002pmw.3	+	20	3335	c.3227C>T	c.(3226-3228)gCc>gTc	p.A1076V	TRPM4_uc010emu.3_Missense_Mutation_p.A931V|TRPM4_uc010yak.2_Missense_Mutation_p.A540V|TRPM4_uc002pmx.3_Missense_Mutation_p.A902V|TRPM4_uc010emv.3_Missense_Mutation_p.A961V|TRPM4_uc010yal.2_Missense_Mutation_p.A722V|TRPM4_uc002pmy.3_Missense_Mutation_p.A418V	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA.	1076	Calmodulin-binding.				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CCCGCGCTGGCCCCGCCCTTT	0.632000														56			13		0	0	0.001368	0	0
SYNE2	23224	broad.mit.edu	37	14	64460552	64460553	+	Splice_Site	DNP	GG	AA	AA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:64460552_64460553GG>AA	uc001xgl.3	+	22	2877	c.2647_splice	c.e22-1	p.E883_splice	SYNE2_uc001xgm.3_Splice_Site_p.E883_splice|SYNE2_uc021ruh.1_Splice_Site_p.E883_splice	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	883					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTTTTTTTTAGGAAGCACTAAT	0.292000														1			6		0	0	0.004672	0	0
SNAP91	9892	broad.mit.edu	37	6	84366533	84366533	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:84366533G>A	uc021zcf.1	-	5	628	c.598C>T	c.(598-600)Ctt>Ttt	p.L200F	SNAP91_uc003pka.3_Missense_Mutation_p.L200F|SNAP91_uc011dze.2_Missense_Mutation_p.L200F|SNAP91_uc003pkc.3_Missense_Mutation_p.L200F|SNAP91_uc003pkd.3_Missense_Mutation_p.L200F|SNAP91_uc003pkb.3_Missense_Mutation_p.L165F|SNAP91_uc011dzf.1_Missense_Mutation_p.L81F	NM_014841	NP_055656	O60641	AP180_HUMAN	Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.	200					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		TCTTTGAAAAGAAGCATAAAT	0.343000														10			9		0	0	0.000673	0	0
CYP19A1	1588	broad.mit.edu	37	15	51510842	51510842	+	Silent	SNP	G	A	A	rs147160979	byFrequency	TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:51510842G>A	uc001zyz.4	-	6	890	c.639C>T	c.(637-639)atC>atT	p.I213I	CYP19A1_uc001zza.4_Silent_p.I213I|CYP19A1_uc001zzb.2_Silent_p.I213I|CYP19A1_uc001zzc.1_5'Flank	NM_031226	NP_112503	P11511	CP19A_HUMAN	Homo sapiens cytochrome P450, family 19, subfamily A, polypeptide 1 (CYP19A1), transcript variant 2, mRNA.	213					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	TTTTAACCACGATAGCACTTT	0.378000														15			9		0	0	0.004482	0	0
PRB3	5544	broad.mit.edu	37	12	11420926	11420926	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:11420926C>T	uc001qzs.3	-	2	295	c.257G>A	c.(256-258)gGa>gAa	p.G86E	PRB4_uc001qzf.1_Intron	NM_006249	NP_006240	Q04118	PRB3_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 3 (PRB3), mRNA.	86	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.					extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			GGACTGGTTTCCTCCTTGTGG	0.627000														148			53		0	0	0.003610	0	0
KCNB1	3745	broad.mit.edu	37	20	47989982	47989982	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:47989982G>A	uc002xur.1	-	1	2281	c.2115C>T	c.(2113-2115)gtC>gtT	p.V705V	KCNB1_uc002xus.1_Silent_p.V705V	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	705	Poly-Ala.				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CCAGTCCAGCGACAGCAGCCG	0.592000														21			12		0	0	0.002450	0	0
RIN3	79890	broad.mit.edu	37	14	93118635	93118635	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:93118635C>T	uc001yap.3	+	5	1393	c.1241C>T	c.(1240-1242)cCt>cTt	p.P414L	RIN3_uc010auk.3_Missense_Mutation_p.P76L|RIN3_uc001yaq.3_Missense_Mutation_p.P339L|RIN3_uc001yar.1_Missense_Mutation_p.P76L|RIN3_uc001yas.1_Missense_Mutation_p.P76L	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Homo sapiens Ras and Rab interactor 3 (RIN3), mRNA.	414	Pro-rich.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CTCAGCCTGCCTCCCCAAGGG	0.652000														19			20		0	0	0.001882	0	0
C1QTNF9B	387911	broad.mit.edu	37	13	24465876	24465876	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:24465876C>T	uc010tcw.2	-	2	574	c.554G>A	c.(553-555)gGa>gAa	p.G185E	MIPEP_uc001uox.4_5'Flank|C1QTNF9B-AS1_uc001uoy.3_Missense_Mutation_p.P44S|C1QTNF9B-AS1_uc009zzx.3_Missense_Mutation_p.P53S|C1QTNF9B_uc010tcv.1_Intron|C1QTNF9B_uc001uoz.1_Intron|C1QTNF9B_uc010tcx.2_Missense_Mutation_p.G185E	NM_001007537	NP_001007538	B2RNN3	C1T9B_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 9B (C1QTNF9B), mRNA.	185	Collagen-like 3.					collagen				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						TCCTCGATCTCCTTTCCAGCC	0.567000														61			12		0	0	0.007413	0	0
FMO3	2328	broad.mit.edu	37	1	171086468	171086468	+	Silent	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:171086468A>G	uc001ghi.3	+	8	1596	c.1485A>G	c.(1483-1485)aaA>aaG	p.K495K	FMO3_uc001ghh.3_Silent_p.K495K|FMO3_uc010pmb.2_Silent_p.K475K|FMO3_uc010pmc.2_Silent_p.K432K	NM_001002294	NP_008825	P31513	FMO3_HUMAN	Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA.	495					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GGTCGTTGAAACCCATGCAGA	0.522000														33			7		0	0	0.003080	0	0
KCNJ2	3759	broad.mit.edu	37	17	68171246	68171246	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:68171246C>T	uc010dfg.3	+	1	467	c.66C>T	c.(64-66)gcC>gcT	p.A22A	KCNJ2_uc002jir.3_Silent_p.A22A|KCNJ2_uc021ucj.1_Silent_p.A22A	NM_000891	NP_000882	P63252	IRK2_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 2 (KCNJ2), mRNA.	22					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					TGAAGTTGGCCACCATGGCAG	0.532000														22			15		0	0	0.003163	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21331610	21331610	+	Silent	SNP	T	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:21331610T>C	uc001req.4	+	5	686	c.582T>C	c.(580-582)tcT>tcC	p.S194S		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B1 (SLCO1B1), mRNA.	194					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TGGGGCTTTCTTACATTGATG	0.358000														9			35		0	0	0.004878	0	0
GUCY2D	3000	broad.mit.edu	37	17	7907263	7907263	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:7907263C>T	uc002gjt.2	+	2	889	c.815C>T	c.(814-816)tCc>tTc	p.S272F		NM_000180	NP_000171	Q02846	GUC2D_HUMAN	Homo sapiens guanylate cyclase 2D, membrane (retina-specific) (GUCY2D), mRNA.	272					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				ACCGATGGCTCCCTGGTCTTC	0.672000														25			52		0	0	0.003610	0	0
NLRP10	338322	broad.mit.edu	37	11	7982819	7982819	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:7982819C>T	uc001mfv.1	-	1	357	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	114							ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACTCCTGCTTCCTGCCATTCC	0.527000														22			44		0	0	0.003610	0	0
DNAH8	1769	broad.mit.edu	37	6	38899589	38899589	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:38899589G>A	uc021yzh.1	+	75	11386	c.11277G>A	c.(11275-11277)gtG>gtA	p.V3759V	DNAH8_uc003ooe.2_Silent_p.V3542V|DNAH8_uc003oog.1_5'UTR|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTATGTAGGTGAAAGTCGGTG	0.348000														102			25		0	0	0.004656	0	0
FLT3	2322	broad.mit.edu	37	13	28597565	28597565	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:28597565C>T	uc001urw.3	-	18	2422	c.2340G>A	c.(2338-2340)ttG>ttA	p.L780L	FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Silent_p.L780L	NM_004119	NP_004110	P36888	FLT3_HUMAN	Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	780	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	TAAGCACATTCAAGTCCTCCT	0.353000			"""Mis, O"""		"""AML, ALL"""									23			24		0	0	0.002780	0	0
ZC4H2	55906	broad.mit.edu	37	X	64139034	64139034	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:64139034G>A	uc004dvu.3	-	3	605	c.449C>T	c.(448-450)cCc>cTc	p.P150L	ZC4H2_uc004dvv.3_Missense_Mutation_p.P127L|ZC4H2_uc022byd.1_Missense_Mutation_p.P127L|ZC4H2_uc022byc.1_Missense_Mutation_p.P127L|ZC4H2_uc011mow.2_Intron|ZC4H2_uc011mov.2_Missense_Mutation_p.P127L|ZC4H2_uc004dvw.2_3'UTR	NM_018684	NP_001230733	Q9NQZ6	ZC4H2_HUMAN	Homo sapiens zinc finger, C4H2 domain containing (ZC4H2), transcript variant 1, mRNA.	150							metal ion binding|protein binding	p.P150P(1)		endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CTCAGGGATGGGGGGCTCCTG	0.572000														4			19		0	0	0.002299	0	0
TTN	7273	broad.mit.edu	37	2	179453853	179453853	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:179453853G>A	uc021vsy.1	-	252	55120	c.54895C>T	c.(54895-54897)Cct>Tct	p.P18299S	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P11994S|TTN_uc021vta.1_Missense_Mutation_p.P11927S|TTN_uc021vtb.1_Missense_Mutation_p.P11802S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	19226	Fibronectin type-III 32.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCTCACAGGACCAGGCTTA	0.433000														7			11		0	0	0.001855	0	0
DLG4	1742	broad.mit.edu	37	17	7095250	7095250	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:7095250G>A	uc010vtn.2	-	16	2018	c.1758C>T	c.(1756-1758)atC>atT	p.I586I	DLG4_uc010vtm.2_Intron|DLG4_uc010cly.3_Silent_p.I643I|DLG4_uc002get.4_Silent_p.I689I|DLG4_uc010vto.2_Silent_p.I686I	NM_001128827	NP_001122299	P78352	DLG4_HUMAN	Homo sapiens discs, large homolog 4 (Drosophila) (DLG4), transcript variant 2, mRNA.	646	Guanylate kinase-like.				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein C-terminus binding|protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						TGAAGATGGCGATGGGGTGCA	0.692000														33			56		0	0	0.003610	0	0
SERPINB3	6317	broad.mit.edu	37	18	61328320	61328321	+	Missense_Mutation	DNP	CC	GT	GT			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:61328320_61328321CC>GT	uc002lji.3	-	1	274_275	c.130_131GG>AC	c.(130-132)gga>ACa	p.G44T	SERPINB3_uc002ljg.3_Missense_Mutation_p.G44T|SERPINB3_uc010dqa.3_Missense_Mutation_p.G44T|SERPINB3_uc010dqb.3_Missense_Mutation_p.G44T|SERPINB3_uc010dqc.2_Missense_Mutation_p.G44T	NM_006919	NP_008850	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA.	44					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						GTCTTTGGCTCCTAAGAGGACC	0.441000														8			6		0	0	0.004672	0	0
APOB	338	broad.mit.edu	37	2	21229125	21229125	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:21229125C>T	uc002red.3	-	25	10743	c.10615G>A	c.(10615-10617)Gat>Aat	p.D3539N		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3539					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)	CAGATATCATCAATTTTGGAA	0.433000														143			110		0	0	0.003610	0	0
PTGDR	5729	broad.mit.edu	37	14	52734689	52734689	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:52734689C>T	uc001wzq.3	+	0	259	c.157C>T	c.(157-159)Cca>Tca	p.P53S		NM_000953	NP_000944	Q13258	PD2R_HUMAN	Homo sapiens prostaglandin D2 receptor (DP) (PTGDR), mRNA.	53						integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	CTCGCGGCGTCCACTGCGCCC	0.711000														0			14		0	0	0.002450	0	0
EYA4	2070	broad.mit.edu	37	6	133595933	133595933	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:133595933G>A	uc011ecs.2	+	1	331	c.15G>A	c.(13-15)caG>caA	p.Q5Q	EYA4_uc011ecq.2_Silent_p.Q5Q|EYA4_uc011ecr.2_Silent_p.Q5Q|EYA4_uc003qec.4_Silent_p.Q5Q|EYA4_uc003qed.4_Silent_p.Q5Q|EYA4_uc003qee.4_Silent_p.Q5Q	NM_004100	NP_004091	O95677	EYA4_HUMAN	Homo sapiens eyes absent homolog 4 (Drosophila) (EYA4), transcript variant 1, mRNA.	5					DNA repair|anatomical structure morphogenesis|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		AAGACTCCCAGGATTTAAATG	0.358000														30			18		0	0	0.002299	0	0
KLK5	25818	broad.mit.edu	37	19	51452287	51452287	+	Silent	SNP	G	A	A	rs8104840	byFrequency	TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:51452287G>A	uc002pue.3	-	4	638	c.420C>T	c.(418-420)atC>atT	p.I140I	KLK5_uc002puf.3_Silent_p.I140I|KLK5_uc002pug.3_Silent_p.I140I	NM_001077491	NP_036559	Q9Y337	KLK5_HUMAN	Homo sapiens kallikrein-related peptidase 5 (KLK5), transcript variant 2, mRNA.	140	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		CAGGGTGGGGGATGGATTTGA	0.527000														43			40		0	0	0.002222	0	0
TCTEX1D2	255758	broad.mit.edu	37	3	196022888	196022888	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:196022888C>T	uc003fwi.3	-	3	512	c.370G>A	c.(370-372)Gtt>Att	p.V124I		NM_152773	NP_689986	Q8WW35	TC1D2_HUMAN	Homo sapiens Tctex1 domain containing 2 (TCTEX1D2), mRNA.	124							protein binding	p.V124I(2)|p.D123N(1)		breast(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)	7	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		TTCATGAAAACATCATGAGTA	0.383000														18			23		0	0	0.005443	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47348866	47348866	+	RNA	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:47348866G>A	uc001cqo.1	-	4		c.636C>T			CYP4Z2P_uc009vyn.1_Non-coding_Transcript					Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 2 pseudogene (CYP4Z2P), non-coding RNA.																		ATGCTGCCCTGGTGGCTGAAG	0.483000														17			34		0	0	0.003755	0	0
PLEKHG6	55200	broad.mit.edu	37	12	6421412	6421412	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:6421412C>T	uc001qnr.3	+	1	168	c.20C>T	c.(19-21)cCa>cTa	p.P7L	PLEKHG6_uc001qns.3_Missense_Mutation_p.P7L|PLEKHG6_uc010sew.2_Missense_Mutation_p.P7L|PLEKHG6_uc010sex.2_5'Flank	NM_018173	NP_060643	Q3KR16	PKHG6_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 6 (PLEKHG6), transcript variant 1, mRNA.	7					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						TTTGGTCCTCCACATGAGGGC	0.587000														13			28		0	0	0.002096	0	0
HDGF	3068	broad.mit.edu	37	1	156714136	156714136	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:156714136G>T	uc001fpy.4	-	3	630	c.308C>A	c.(307-309)tCc>tAc	p.S103Y	HDGF_uc009wsd.3_Missense_Mutation_p.S71Y|HDGF_uc001fpz.4_Missense_Mutation_p.S96Y|HDGF_uc009wse.3_Missense_Mutation_p.S119Y|HDGF_uc010phr.2_Missense_Mutation_p.S126Y|HDGF_uc009wsf.3_Missense_Mutation_p.S71Y	NM_004494	NP_004485	P51858	HDGF_HUMAN	Homo sapiens hepatoma-derived growth factor (HDGF), transcript variant 1, mRNA.	103					cell proliferation|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	DNA binding|growth factor activity|heparin binding|nucleotide binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)		Colorectal(1306;0.018)		CTTTTTCTGGGAGGACTGCAG	0.607000														197			57		1.78668e-44	2.51426e-44	0.003610	1	0
DMBT1	1755	broad.mit.edu	37	10	124396734	124396734	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:124396734C>T	uc001lgk.1	+	50	6567	c.6461C>T	c.(6460-6462)tCc>tTc	p.S2154F	DMBT1_uc001lgl.1_Missense_Mutation_p.S2144F|DMBT1_uc001lgm.1_Missense_Mutation_p.S1526F|DMBT1_uc021qaf.1_Missense_Mutation_p.S2154F|DMBT1_uc021qag.1_Missense_Mutation_p.S2144F|DMBT1_uc021qah.1_Missense_Mutation_p.S1526F|DMBT1_uc009xzz.1_Missense_Mutation_p.S2153F|DMBT1_uc010qtx.1_Missense_Mutation_p.S874F|DMBT1_uc009yab.1_Missense_Mutation_p.S857F|DMBT1_uc009yac.1_Missense_Mutation_p.S448F	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	2154	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CTTGTCATTTCCACCTGGAAT	0.517000														35			26		0	0	0.004656	0	0
NME9	347736	broad.mit.edu	37	3	138043745	138043745	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:138043745C>T	uc003esg.3	-	1	89	c.61G>A	c.(61-63)Gag>Aag	p.E21K	NME9_uc003esd.1_Non-coding_Transcript|NME9_uc010huf.1_5'UTR|NME9_uc003ese.1_5'UTR	NM_178130	NP_835231	Q86XW9	TXND6_HUMAN	Homo sapiens NME gene family member 9 (NME9), mRNA.	21	Thioredoxin.				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell redox homeostasis	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										AGCATTTCCTCCCAAAGCTCT	0.378000														106			156		0	0	0.003610	0	0
TMEM150B	284417	broad.mit.edu	37	19	55832372	55832372	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:55832372G>A	uc010esw.1	-	2	206	c.33C>T	c.(31-33)ttC>ttT	p.F11F	TMEM150B_uc010yfu.1_Silent_p.F11F|TMEM150B_uc010yfv.1_Non-coding_Transcript|TMEM150B_uc010yfw.1_Non-coding_Transcript|TMEM150B_uc002qki.3_Silent_p.F11F	NM_001085488	NP_001078957	A6NC51	T150B_HUMAN	Homo sapiens transmembrane protein 150B (TMEM150B), mRNA.	11						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3						AGACAGCTAGGAAGACAGGCA	0.602000														11			6		0	0	0.003080	0	0
LRSAM1	90678	broad.mit.edu	37	9	130255173	130255173	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:130255173C>T	uc004brb.2	+	20	1968	c.1596C>T	c.(1594-1596)atC>atT	p.I532I	LRSAM1_uc010mxk.2_Silent_p.I505I|LRSAM1_uc004brc.2_Silent_p.I532I|LRSAM1_uc004brd.2_Silent_p.I532I|LRSAM1_uc004bre.2_Silent_p.I112I|AX747547_uc004brf.1_Non-coding_Transcript|LRSAM1_uc004brg.2_5'Flank	NM_001005373	NP_612370	Q6UWE0	LRSM1_HUMAN	Homo sapiens leucine rich repeat and sterile alpha motif containing 1 (LRSAM1), transcript variant 2, mRNA.	532					negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						TCCGGGAAATCCTGGTATGTG	0.502000														15			7		0	0	0.003080	0	0
MYF5	4617	broad.mit.edu	37	12	81111074	81111074	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:81111074A>C	uc001szg.2	+	0	367	c.232A>C	c.(232-234)Aag>Cag	p.K78Q		NM_005593	NP_005584	P13349	MYF5_HUMAN	Homo sapiens myogenic factor 5 (MYF5), mRNA.	78					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.K78R(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						CTGCAAGAGGAAGTCCACCAC	0.622000														15			3		0	0	0.004672	0	0
MYPN	84665	broad.mit.edu	37	10	69934132	69934132	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:69934132A>T	uc001jnm.4	+	11	2468	c.2283A>T	c.(2281-2283)gaA>gaT	p.E761D	MYPN_uc001jnn.4_Missense_Mutation_p.E486D|MYPN_uc001jno.4_Missense_Mutation_p.E761D|MYPN_uc009xpt.3_Missense_Mutation_p.E761D|MYPN_uc010qit.2_Missense_Mutation_p.E467D|MYPN_uc010qiu.2_Non-coding_Transcript	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	Homo sapiens myopalladin (MYPN), transcript variant 1, mRNA.	761						nucleus|sarcomere	actin binding	p.E761*(1)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						TGAGCAAAGAAAGCCTCTTAG	0.542000														36			33		0	0	0.003271	0	0
PHF2P1	266695	broad.mit.edu	37	13	19624106	19624106	+	RNA	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:19624106G>A	uc001umb.1	-	8		c.3377C>T								Homo sapiens PHD finger protein 2 pseudogene 1 (PHF2P1), non-coding RNA.																		CACCTGAGGGGATGAAGAGGG	0.592000														31			25		0	0	0.001512	0	0
C8orf22	492307	broad.mit.edu	37	8	49985432	49985432	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:49985432C>T	uc003xqq.4	+	1	226	c.43C>T	c.(43-45)Cag>Tag	p.Q15*		NM_001007176	NP_001007177	Q8WWR9	PDPFL_HUMAN	Homo sapiens chromosome 8 open reading frame 22 (C8orf22), mRNA.	15										large_intestine(1)|lung(7)|prostate(1)	9		all_cancers(86;0.0452)|all_epithelial(80;0.000863)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				AGCCAGAAATCAGTATTATCG	0.423000														32			46		0	0	0.003610	0	0
DNAH9	1770	broad.mit.edu	37	17	11666909	11666909	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:11666909G>A	uc002gne.3	+	35	7216	c.7148G>A	c.(7147-7149)gGc>gAc	p.G2383D	DNAH9_uc010coo.3_Missense_Mutation_p.G1677D	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2383					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)		TGGGCTTTCGGCGGAGCAATG	0.463000														18			4		0	0	0.000248	0	0
PPP2R3A	5523	broad.mit.edu	37	3	135745761	135745761	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:135745761C>T	uc003eqv.2	+	2	2700	c.2083C>T	c.(2083-2085)Ccc>Tcc	p.P695S	PPP2R3A_uc011blz.2_5'UTR|PPP2R3A_uc003eqw.2_Missense_Mutation_p.P74S|PPP2R3A_uc011bma.1_Non-coding_Transcript	NM_002718	NP_002709	Q06190	P2R3A_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B'', alpha (PPP2R3A), transcript variant 1, mRNA.	695	Pro-rich.		P -> L (in dbSNP:rs9826032).		protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTCCCCGGTTCCCCATGTGAA	0.448000														19			12		0	0	0.001855	0	0
ATP5SL	55101	broad.mit.edu	37	19	41944318	41944318	+	Splice_Site	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:41944318G>A	uc002oqv.3	-	2	104	c.37_splice	c.e2-1	p.S13_splice	ATP5SL_uc010xwa.2_Splice_Site_p.S13_splice|ATP5SL_uc002oqw.2_Splice_Site_p.S7_splice|ATP5SL_uc021uuz.1_Splice_Site|ATP5SL_uc002oqx.2_Splice_Site_p.S7_splice|ATP5SL_uc002oqy.2_Splice_Site_p.S7_splice|ATP5SL_uc002oqz.2_Splice_Site_p.S7_splice|ATP5SL_uc002ora.1_Splice_Site|ATP5SL_uc010xwb.2_Splice_Site_p.S13_splice	NM_001167867	NP_001161339	Q9NW81	AT5SL_HUMAN	Homo sapiens ATP5S-like (ATP5SL), transcript variant 1, mRNA.	7										breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	11						CAGGCGCAGGGACTGGGGAGG	0.617000														6			5		0	0	0.000602	0	0
CATSPERB	79820	broad.mit.edu	37	14	92159580	92159580	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:92159580C>T	uc001xzs.1	-	8	861	c.721G>A	c.(721-723)Gac>Aac	p.D241N		NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	241					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				AATGAAAGGTCTTCATATTCT	0.318000														45			33		0	0	0.006230	0	0
OR5P2	120065	broad.mit.edu	37	11	7818441	7818441	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:7818441G>A	uc001mfp.1	-	0	49	c.49C>T	c.(49-51)Cta>Tta	p.L17L		NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 2 (OR5P2), mRNA.	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AAGCCCAATAGGATGAACCCC	0.418000														13			10		0	0	0.000673	0	0
BMP8A	353500	broad.mit.edu	37	1	39987206	39987206	+	Missense_Mutation	SNP	G	A	A	rs142499129	byFrequency	TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:39987206G>A	uc001cdi.3	+	3	1178	c.832G>A	c.(832-834)Gag>Aag	p.E278K		NM_181809	NP_861525	Q7Z5Y6	BMP8A_HUMAN	Homo sapiens bone morphogenetic protein 8a (BMP8A), mRNA.	278					cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity			kidney(1)|large_intestine(2)|lung(1)|skin(1)	5	Lung NSC(20;2.08e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;9.69e-19)|Epithelial(16;9.34e-17)|all cancers(16;1.73e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAAAAGCAACGAGCTGCCGCA	0.647000														0			21		0	0	0.003330	0	0
ADCY8	114	broad.mit.edu	37	8	131922025	131922025	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:131922025C>T	uc003ytd.4	-	5	1825	c.1569G>A	c.(1567-1569)agG>agA	p.R523R	ADCY8_uc010mds.3_Silent_p.R523R	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	523					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ACTGCCACTTCCTTAGTCCCA	0.478000										HNSCC(32;0.087)				84			40		0	0	0.002522	0	0
ZNF70	7621	broad.mit.edu	37	22	24086713	24086713	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:24086713G>A	uc002zxs.3	-	1	1076	c.615C>T	c.(613-615)ttC>ttT	p.F205F	ZNF70_uc021wmu.1_Silent_p.F205F	NM_021916	NP_068735	Q9UC06	ZNF70_HUMAN	Homo sapiens zinc finger protein 70 (ZNF70), mRNA.	205						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						AGCTCTGGCGGAAGGCCTTCC	0.622000														16			11		0	0	0.000978	0	0
TECTA	7007	broad.mit.edu	37	11	120996388	120996388	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:120996388C>T	uc010rzo.2	+	6	1581	c.1581C>T	c.(1579-1581)ctC>ctT	p.L527L		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	527	VWFD 1.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GCGGCTTCCTCAACAAGACAG	0.592000														89			60		0	0	0.003610	0	0
CFB	629	broad.mit.edu	37	6	31915290	31915290	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:31915290C>T	uc003nyj.4	+	3	928	c.650C>T	c.(649-651)tCc>tTc	p.S217F	CFB_uc011dor.2_Missense_Mutation_p.S719F|CFB_uc003nyi.2_Missense_Mutation_p.S217F	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	217	Sushi 3.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						ACGGAGCCTTCCTGCCAAGGT	0.602000														54			90		0	0	0.003610	0	0
PCDHB1	29930	broad.mit.edu	37	5	140432972	140432972	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:140432972G>A	uc003lik.1	+	0	1994	c.1917G>A	c.(1915-1917)caG>caA	p.Q639Q		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	639	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCATGATGCAGAAATTGATCA	0.443000														64			50		0	0	0.003610	0	0
DIDO1	11083	broad.mit.edu	37	20	61512521	61512521	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:61512521G>A	uc002ydr.2	-	15	5099	c.4787C>T	c.(4786-4788)tCc>tTc	p.S1596F	DIDO1_uc002yds.2_Missense_Mutation_p.S1596F	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	1596					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GCCACCCCTGGAAGCATCTCT	0.711000														16			9		0	0	0.006214	0	0
IVNS1ABP	10625	broad.mit.edu	37	1	185270669	185270669	+	Silent	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:185270669A>G	uc001grl.3	-	8	1415	c.792T>C	c.(790-792)caT>caC	p.H264H	IVNS1ABP_uc001gri.3_5'UTR|IVNS1ABP_uc001grj.3_5'UTR|IVNS1ABP_uc009wyj.3_Silent_p.H46H|IVNS1ABP_uc009wyk.3_Non-coding_Transcript|IVNS1ABP_uc001grm.3_5'UTR	NM_006469	NP_006460	Q9Y6Y0	NS1BP_HUMAN	Homo sapiens influenza virus NS1A binding protein (IVNS1ABP), mRNA.	264	Sufficient for AHR interaction and signaling.				RNA splicing|interspecies interaction between organisms|response to virus|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						TTATCTGCTTATGGCCATTCT	0.423000														8			6		0	0	0.001984	0	0
TLN2	83660	broad.mit.edu	37	15	63073355	63073355	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:63073355C>T	uc002alb.4	+	40	5531	c.5531C>T	c.(5530-5532)cCt>cTt	p.P1844L	TLN2_uc002alc.4_Missense_Mutation_p.P237L|TLN2_uc002ald.3_Missense_Mutation_p.P237L	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	1844					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GAAGGCACTCCTCCAGAACCA	0.443000														33			23		0	0	0.001786	0	0
ANKH	56172	broad.mit.edu	37	5	14716861	14716861	+	Silent	SNP	T	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:14716861T>C	uc003jfm.4	-	8	1426	c.1095A>G	c.(1093-1095)gaA>gaG	p.E365E		NM_054027	NP_473368	Q9HCJ1	ANKH_HUMAN	Homo sapiens ankylosis, progressive homolog (mouse) (ANKH), mRNA.	365					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity	p.A364T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						CAACACAGAGTTCTGCAAAGG	0.433000														13			12		0	0	0.001855	0	0
DIP2B	57609	broad.mit.edu	37	12	51069187	51069187	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:51069187C>T	uc001rwv.3	+	6	1028	c.872C>T	c.(871-873)cCc>cTc	p.P291L	DIP2B_uc001rwu.3_Missense_Mutation_p.P291L|DIP2B_uc009zls.2_Missense_Mutation_p.P173L	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog B (Drosophila) (DIP2B), mRNA.	291						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						AAAAGGCCTCCCTTAAAGGAA	0.343000														26			10		0	0	0.002450	0	0
TRBV29-1	28558	broad.mit.edu	37	7	142448481	142448481	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:142448481G>A	uc011ksl.1	+	1	106	c.75G>A	c.(73-75)agG>agA	p.R25R	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|TRBV29-1_uc022anu.1_Silent_p.R21R					SubName: Full=V_segment translation product; Flags: Fragment;																		AGCCAAGCAGGGATATCTGTC	0.522000														40			30		0	0	0.003271	0	0
QSOX1	5768	broad.mit.edu	37	1	180159638	180159638	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:180159638C>T	uc001gnz.3	+	9	1286	c.1211C>T	c.(1210-1212)cCc>cTc	p.P404L	QSOX1_uc001gny.3_Missense_Mutation_p.P404L	NM_002826	NP_002817	O00391	QSOX1_HUMAN	Homo sapiens quiescin Q6 sulfhydryl oxidase 1 (QSOX1), transcript variant 1, mRNA.	404	ERV/ALR sulfhydryl oxidase.				cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CGGGGCTTTCCCTGCTCCCTG	0.577000														15			63		0	0	0.003610	0	0
DNAH3	55567	broad.mit.edu	37	16	20996655	20996655	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:20996655C>T	uc010vbe.2	-	47	7409	c.7409G>A	c.(7408-7410)cGa>cAa	p.R2470Q	DNAH3_uc010vbd.2_5'Flank	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2470	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AAGATCTTCTCGCCAGTCATT	0.522000														9			17		0	0	0.001216	0	0
APOE	348	broad.mit.edu	37	19	45411097	45411097	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:45411097C>T	uc002pab.3	+	2	207	c.124C>T	c.(124-126)Cag>Tag	p.Q42*		NM_000041	NP_000032	P02649	APOE_HUMAN	Homo sapiens apolipoprotein E (APOE), mRNA.	42					Cdc42 protein signal transduction|G-protein coupled receptor protein signaling pathway|anti-apoptosis|cGMP-mediated signaling|cell death|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|cytoskeleton organization|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|induction of apoptosis|intracellular transport|negative regulation of MAP kinase activity|negative regulation of blood vessel endothelial cell migration|negative regulation of cholesterol biosynthetic process|negative regulation of endothelial cell proliferation|negative regulation of platelet activation|nitric oxide mediated signal transduction|phospholipid efflux|positive regulation of cGMP biosynthetic process|positive regulation of cholesterol efflux|positive regulation of cholesterol esterification|positive regulation of low-density lipoprotein particle receptor catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of nitric-oxide synthase activity|receptor-mediated endocytosis|regulation of axon extension|regulation of neuronal synaptic plasticity|response to reactive oxygen species|reverse cholesterol transport|synaptic transmission, cholinergic|triglyceride metabolic process|very-low-density lipoprotein particle clearance|very-low-density lipoprotein particle remodeling	chylomicron|dendrite|high-density lipoprotein particle|intermediate-density lipoprotein particle|low-density lipoprotein particle|neuronal cell body|very-low-density lipoprotein particle	antioxidant activity|beta-amyloid binding|heparin binding|low-density lipoprotein particle receptor binding|metal chelating activity|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding|protein heterodimerization activity|protein homodimerization activity|tau protein binding|very-low-density lipoprotein particle receptor binding			large_intestine(1)|lung(2)|prostate(1)	4	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	GCAGAGCGGCCAGCGCTGGGA	0.637000														122			104		0	0	0.003610	0	0
MLC1	23209	broad.mit.edu	37	22	50502618	50502618	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:50502618C>T	uc003bjg.1	-	10	1177	c.904G>A	c.(904-906)Gat>Aat	p.D302N	MLC1_uc011arl.1_Missense_Mutation_p.D250N|MLC1_uc003bjh.1_Missense_Mutation_p.D302N|MLC1_uc011arm.1_Missense_Mutation_p.D272N|MLC1_uc011arn.1_Missense_Mutation_p.D223N|MLC1_uc011aro.1_Missense_Mutation_p.D268N	NM_139202	NP_631941	Q15049	MLC1_HUMAN	Homo sapiens megalencephalic leukoencephalopathy with subcortical cysts 1 (MLC1), transcript variant 2, mRNA.	302						basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		agcagcaCATCGTAGGATGGC	0.647000														12			8		0	0	0.003080	0	0
PSEN2	5664	broad.mit.edu	37	1	227069665	227069665	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:227069665C>T	uc009xeo.1	+	3	484	c.57C>T	c.(55-57)tcC>tcT	p.S19S	PSEN2_uc009xep.1_Silent_p.S19S|PSEN2_uc001hqk.2_Non-coding_Transcript	NM_000447	NP_000438	P49810	PSN2_HUMAN	Homo sapiens presenilin 2 (Alzheimer disease 4) (PSEN2), transcript variant 1, mRNA.	19					Notch receptor processing|Notch signaling pathway|amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|positive regulation of catalytic activity	Golgi membrane|Z disc|apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm	aspartic-type endopeptidase activity|protein binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				AGCGGACGTCCCTAATGTCGG	0.612000														69			22		0	0	0.003954	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56701581	56701581	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:56701581G>A	uc010ygh.2	-	3	1103	c.1103C>T	c.(1102-1104)tCc>tTc	p.S368F		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA.	368					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GCTTAGCTGGGAAAAATACTT	0.552000														22			23		0	0	0.002299	0	0
SH2D4B	387694	broad.mit.edu	37	10	82369257	82369257	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:82369257G>A	uc001kck.1	+	5	1365	c.935G>A	c.(934-936)cGc>cAc	p.R312H	SH2D4B_uc001kcl.1_Missense_Mutation_p.R264H|SH2D4B_uc001kcm.1_Missense_Mutation_p.R59H	NM_207372	NP_997255	Q5SQS7	SH24B_HUMAN	Homo sapiens SH2 domain containing 4B (SH2D4B), transcript variant 1, mRNA.	311										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			CAGCTGCCTCGCCGAGCTGGC	0.582000														58			19		0	0	0.001523	0	0
HTR2B	3357	broad.mit.edu	37	2	231973551	231973551	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:231973551T>G	uc002vro.3	-	3	1631	c.1126A>C	c.(1126-1128)Aat>Cat	p.N376H	PSMD1_uc002vrn.2_Intron|PSMD1_uc002vrm.2_Intron|PSMD1_uc010fxu.2_Intron|HTR2B_uc010fxv.3_Missense_Mutation_p.N309H	NM_000867	NP_000858	P41595	5HT2B_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2B (HTR2B), mRNA.	376					ERK1 and ERK2 cascade|G-protein coupled receptor internalization|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cGMP biosynthetic process|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|embryonic morphogenesis|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	G-protein alpha-subunit binding|Ras GTPase activator activity|calcium channel activity|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)	ACCAAAGGATTCACTCCTGAG	0.403000														42			20		0	0	0.002299	0	0
NAV2	89797	broad.mit.edu	37	11	20077471	20077471	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:20077471G>T	uc010rdm.2	+	19	5229	c.4868G>T	c.(4867-4869)cGt>cTt	p.R1623L	NAV2_uc001mpp.3_Missense_Mutation_p.R1536L|NAV2_uc001mpr.4_Missense_Mutation_p.R1600L|NAV2_uc021qew.1_Missense_Mutation_p.R1600L|NAV2_uc001mpt.2_Missense_Mutation_p.R649L|NAV2_uc009yhx.3_Missense_Mutation_p.R664L|NAV2_uc009yhy.1_Missense_Mutation_p.R562L|NAV2_uc009yhz.3_Missense_Mutation_p.R245L|NAV2_uc001mpu.3_Missense_Mutation_p.R38L	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	1623	Ser-rich.					nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						ACCATGAGCCGTTCAGGCTCA	0.502000														10			12		5.16669e-11	7.19534e-11	0.000978	1	0
PHF2P1	266695	broad.mit.edu	37	13	19622345	19622345	+	RNA	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:19622345G>A	uc001umb.1	-	9		c.3466C>T								Homo sapiens PHD finger protein 2 pseudogene 1 (PHF2P1), non-coding RNA.																		TCCCCACTGGGCCCTGCATAG	0.627000														2			4		0	0	0.000248	0	0
PIGR	5284	broad.mit.edu	37	1	207110999	207110999	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:207110999C>T	uc001hez.3	-	3	670	c.486G>A	c.(484-486)agG>agA	p.R162R	PIGR_uc009xbz.3_Silent_p.R162R	NM_002644	NP_002635	P01833	PIGR_HUMAN	Homo sapiens polymeric immunoglobulin receptor (PIGR), mRNA.	162	Ig-like V-type 2.					extracellular region|integral to plasma membrane	protein binding	p.K161R(1)		central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						ACAAGGACTTCCTCTTTTGAG	0.478000														9			12		0	0	0.001855	0	0
FMN2	56776	broad.mit.edu	37	1	240370204	240370204	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:240370204C>T	uc010pye.2	+	5	2329	c.2104C>T	c.(2104-2106)Cct>Tct	p.P702S	FMN2_uc010pyd.2_Missense_Mutation_p.P698S	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	698					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.E702E(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GAGGCAGTATCCTGCCCTGGA	0.498000														14			39		0	0	0.002222	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17698746	17698746	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:17698746C>T	uc002rcl.1	-	0	961	c.937G>A	c.(937-939)Gat>Aat	p.D313N	RAD51AP2_uc010exn.1_Missense_Mutation_p.D304N	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.	313										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GTTTTTTTATCATTCTGTAAC	0.323000														12			13		0	0	0.001368	0	0
UNC45B	146862	broad.mit.edu	37	17	33507614	33507614	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:33507614C>T	uc002hja.3	+	17	2395	c.2298C>T	c.(2296-2298)atC>atT	p.I766I	UNC45B_uc002hjb.3_Silent_p.I764I|UNC45B_uc002hjc.3_Silent_p.I764I|UNC45B_uc010cto.3_Silent_p.I685I	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA.	766					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TGCCAGACATCGAGAACTACA	0.547000														37			24		0	0	0.005443	0	0
PNLIPRP3	119548	broad.mit.edu	37	10	118236243	118236243	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:118236243T>C	uc001lcl.4	+	10	1353	c.1252T>C	c.(1252-1254)Ttc>Ctc	p.F418L		NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN	Homo sapiens pancreatic lipase-related protein 3 (PNLIPRP3), mRNA.	418	PLAT.				lipid catabolic process	extracellular region	triglyceride lipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		AAGTGTTCAGTTCATCTGGAA	0.338000														29			30		0	0	0.001786	0	0
NPAT	4863	broad.mit.edu	37	11	108058825	108058825	+	Splice_Site	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:108058825C>T	uc001pjz.4	-	7	740	c.638_splice	c.e7+1	p.S213_splice	NPAT_uc001pka.3_Splice_Site_p.S8_splice	NM_002519	NP_002510	Q14207	NPAT_HUMAN	Homo sapiens nuclear protein, ataxia-telangiectasia locus (NPAT), mRNA.	213	Interaction with MIZF.				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		AAGCATTTACCTTTTGCGTCT	0.343000														36			37		0	0	0.006999	0	0
TUB	7275	broad.mit.edu	37	11	8123035	8123035	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:8123035G>A	uc001mga.3	+	11	1539	c.1390G>A	c.(1390-1392)Gac>Aac	p.D464N	TUB_uc010rbk.2_Missense_Mutation_p.D470N|TUB_uc001mfy.3_Missense_Mutation_p.D519N	NM_177972	NP_813977	P50607	TUB_HUMAN	Homo sapiens tubby homolog (mouse) (TUB), transcript variant 2, mRNA.	464					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		GGCCCCAGCGGACTACATCGT	0.547000														33			67		0	0	0.003610	0	0
FOXN1	8456	broad.mit.edu	37	17	26854296	26854296	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:26854296G>A	uc010crm.3	+	3	814	c.616G>A	c.(616-618)Gtt>Att	p.V206I	FOXN1_uc002hbj.3_Missense_Mutation_p.V206I	NM_003593	NP_003584	O15353	FOXN1_HUMAN	Homo sapiens forkhead box N1 (FOXN1), mRNA.	206					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.P205T(1)		endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					CAAGCCCCCAGTTCTGGAGAG	0.537000														5			16		0	0	0.001216	0	0
PPFIA2	8499	broad.mit.edu	37	12	82147871	82147871	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:82147871G>A	uc001szo.2	-	2	291	c.130C>T	c.(130-132)Cgt>Tgt	p.R44C	PPFIA2_uc021rbi.1_Missense_Mutation_p.R44C|PPFIA2_uc021rbj.1_Missense_Mutation_p.R44C|PPFIA2_uc021rbk.1_Missense_Mutation_p.R44C|PPFIA2_uc021rbl.1_Missense_Mutation_p.R44C	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.	303								p.R44S(2)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TCTAGAAGACGATCCCTTTCA	0.527000														4			13		0	0	0.004007	0	0
SLC4A3	6508	broad.mit.edu	37	2	220493868	220493868	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:220493868C>T	uc002vmo.4	+	3	429	c.220C>T	c.(220-222)Cac>Tac	p.H74Y	SLC4A3_uc002vmn.2_Missense_Mutation_p.H74Y|SLC4A3_uc002vmp.4_Missense_Mutation_p.H74Y|SLC4A3_uc010fwm.3_5'UTR|SLC4A3_uc010fwn.1_5'Flank	NM_201574	NP_963868	P48751	B3A3_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 3 (SLC4A3), transcript variant 2, mRNA.	74					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCCCCAGTTCACCGGCACAC	0.692000														6			10		0	0	0.001855	0	0
PPFIA1	8500	broad.mit.edu	37	11	70185379	70185380	+	Missense_Mutation	DNP	CC	GT	GT			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:70185379_70185380CC>GT	uc001opo.3	+	13	1889_1890	c.1674_1675CC>GT	c.(1672-1677)ggccgg>ggGTgg	p.R559W	PPFIA1_uc001opn.2_Missense_Mutation_p.R559W|PPFIA1_uc001opp.3_Non-coding_Transcript|PPFIA1_uc001opq.1_Non-coding_Transcript	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 (PPFIA1), transcript variant 2, mRNA.	559					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CACAGAAAGGCCGGCTGGCAGC	0.569000														26			21		0	0	0.004672	0	0
HORMAD1	84072	broad.mit.edu	37	1	150676664	150676664	+	Missense_Mutation	SNP	C	T	T	rs145538442		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:150676664C>T	uc001evk.2	-	11	996	c.878G>A	c.(877-879)aGt>aAt	p.S293N	HORMAD1_uc001evl.2_Missense_Mutation_p.S286N|HORMAD1_uc001evm.2_Missense_Mutation_p.S213N	NM_032132	NP_115508	Q86X24	HORM1_HUMAN	Homo sapiens HORMA domain containing 1 (HORMAD1), transcript variant 1, mRNA.	293					blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			ACAAACTAAACTTGGTTCTGT	0.303000														6			14		0	0	0.004007	0	0
GJA3	2700	broad.mit.edu	37	13	20716975	20716975	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:20716975G>A	uc001umx.1	-	1	625	c.453C>T	c.(451-453)ttC>ttT	p.F151F	GJA3_uc021rgz.1_Silent_p.F151F	NM_021954	NP_068773	Q9Y6H8	CXA3_HUMAN	Homo sapiens gap junction protein, alpha 3, 46kDa (GJA3), mRNA.	151					cell-cell signaling|visual perception	connexon complex|integral to membrane				NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)		AGATGATGTTGAAGACGTAGG	0.657000														13			9		0	0	0.004482	0	0
DNAH3	55567	broad.mit.edu	37	16	20966287	20966287	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:20966287C>T	uc010vbe.2	-	54	10919	c.10919G>A	c.(10918-10920)cGg>cAg	p.R3640Q	DNAH3_uc010vbd.2_Missense_Mutation_p.R1075Q	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3640	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CAGGTTGGCCCGGAGCCCTTT	0.502000														53			48		0	0	0.003610	0	0
SETDB1	9869	broad.mit.edu	37	1	150923259	150923259	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:150923259C>T	uc001evu.2	+	12	2096	c.1906C>T	c.(1906-1908)Cgg>Tgg	p.R636W	SETDB1_uc009wmf.2_Missense_Mutation_p.R637W|SETDB1_uc001evv.2_Missense_Mutation_p.R636W|SETDB1_uc009wmg.2_Missense_Mutation_p.R636W	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	Homo sapiens SET domain, bifurcated 1 (SETDB1), transcript variant 1, mRNA.	636	MBD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|chromosome|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCTCTGCCTTCGGACAATGCA	0.493000														71			21		0	0	0.002299	0	0
ZNF7	7553	broad.mit.edu	37	8	146066810	146066810	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:146066810G>A	uc010mge.3	+	4	488	c.351G>A	c.(349-351)ggG>ggA	p.G117G	ZNF7_uc003zeg.4_Silent_p.G106G|ZNF7_uc011lln.2_Silent_p.G10G|ZNF7_uc003zeh.2_Intron|ZNF7_uc003zek.4_Silent_p.G10G|COMMD5_uc003zel.1_Non-coding_Transcript	NM_003416	NP_003407	P17097	ZNF7_HUMAN	Homo sapiens zinc finger protein 7 (ZNF7), mRNA.	106					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		AATCCTATGGGACAGTGGTCA	0.468000														91			41		0	0	0.002522	0	0
ITGA11	22801	broad.mit.edu	37	15	68643713	68643713	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:68643713C>T	uc010bib.3	-	7	864	c.777G>A	c.(775-777)agG>agA	p.R259R	ITGA11_uc002ari.3_Silent_p.R259R	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	Homo sapiens integrin, alpha 11 (ITGA11), mRNA.	259	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	TGGCTCCTTTCCTTCCACCCT	0.557000														40			31		0	0	0.002836	0	0
EPB41L1	2036	broad.mit.edu	37	20	34807691	34807691	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:34807691G>A	uc010gfq.3	+	8	3021	c.2658G>A	c.(2656-2658)ggG>ggA	p.G886G	EPB41L1_uc002xeu.3_Silent_p.G686G|EPB41L1_uc002xev.3_Silent_p.G787G|EPB41L1_uc002xew.3_Silent_p.G679G|EPB41L1_uc002xex.3_Silent_p.G608G|EPB41L1_uc002xey.3_Silent_p.G538G|EPB41L1_uc002xez.3_Silent_p.G686G|EPB41L1_uc002xfb.3_Silent_p.G788G	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 1 (EPB41L1), transcript variant 1, mRNA.	788					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					AGATCATCGGGAAAGATGTCC	0.607000														49			32		0	0	0.004878	0	0
SYNE1	23345	broad.mit.edu	37	6	152712533	152712533	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:152712533G>A	uc021zhb.1	-	49	8106	c.7883C>T	c.(7882-7884)gCc>gTc	p.A2628V	SYNE1_uc003qot.4_Missense_Mutation_p.A2635V|SYNE1_uc003qou.4_Missense_Mutation_p.A2628V|SYNE1_uc010kjb.1_Missense_Mutation_p.A2611V	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	2628					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding	p.E2627K(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCCTCCAGGGCTTCGTGCTC	0.577000										HNSCC(10;0.0054)				21			25		0	0	0.003330	0	0
FRMPD2	143162	broad.mit.edu	37	10	49431207	49431207	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:49431207G>T	uc001jgi.3	-	10	1606	c.1275C>A	c.(1273-1275)ttC>ttA	p.F425L	FRMPD2_uc001jgh.3_Missense_Mutation_p.F394L|FRMPD2_uc001jgj.3_Missense_Mutation_p.F394L	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	425	FERM.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TTATCCTCAGGAAGAGTGTGA	0.463000														46			36		5.20837e-25	7.30296e-25	0.001951	1	0
KSR2	283455	broad.mit.edu	37	12	117962911	117962911	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:117962911G>A	uc001two.2	-	13	1933	c.1878C>T	c.(1876-1878)ttC>ttT	p.F626F		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	655					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACTCCTGAAGGAAGATGCTGG	0.607000														42			8		0	0	0.006214	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42287557	42287557	+	Splice_Site	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:42287557C>T	uc021sjp.1	-	12	1247	c.1247_splice	c.e12+1	p.W416_splice	PLA2G4E_uc010udc.2_Splice_Site|PLA2G4E_uc001zov.2_Splice_Site_p.W40_splice	NM_001206670	NP_001193599	Q3MJ16	PA24E_HUMAN	Homo sapiens phospholipase A2, group IVE (PLA2G4E), mRNA.	404	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		TGTCTCCTTACCAGGTGGCCC	0.602000														7			29		0	0	0.002836	0	0
WBSCR17	64409	broad.mit.edu	37	7	70800703	70800703	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:70800703G>A	uc003tvy.3	+	1	406	c.406G>A	c.(406-408)Gat>Aat	p.D136N	WBSCR17_uc003tvz.3_5'UTR	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	136						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TTCCATTCCGGATTATCGTCC	0.468000														35			19		0	0	0.002299	0	0
CEP72	55722	broad.mit.edu	37	5	637771	637771	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:637771G>A	uc003jbf.3	+	6	1116	c.1044G>A	c.(1042-1044)caG>caA	p.Q348Q	CEP72_uc011clz.1_Non-coding_Transcript	NM_018140	NP_060610	Q9P209	CEP72_HUMAN	Homo sapiens centrosomal protein 72kDa (CEP72), mRNA.	348					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			TTTCGGACCAGGAGGGTTTGG	0.582000														14			9		0	0	0.004482	0	0
NCOA6	23054	broad.mit.edu	37	20	33345302	33345302	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:33345302G>A	uc002xav.3	-	7	3820	c.1249C>T	c.(1249-1251)Ccc>Tcc	p.P417S	NCOA6_uc002xaw.3_Missense_Mutation_p.P417S|NCOA6_uc021wcd.1_Missense_Mutation_p.P417S|NCOA6_uc021wce.1_Missense_Mutation_p.P417S|NCOA6_uc021wcf.1_Missense_Mutation_p.P417S|NCOA6_uc010gew.1_Missense_Mutation_p.P374S	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	417	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TGCTGCAAGGGAGTTGGGACC	0.577000														12			14		0	0	0.001855	0	0
MGAM	8972	broad.mit.edu	37	7	141752128	141752128	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:141752128G>A	uc003vwy.3	+	24	2894	c.2840G>A	c.(2839-2841)gGa>gAa	p.G947E		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	947					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTTCTCCTGGGAGAAGCATAC	0.423000														4			4		0	0	0.000248	0	0
KCNT2	343450	broad.mit.edu	37	1	196227400	196227400	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:196227400C>T	uc001gtd.1	-	25	3195	c.3135G>A	c.(3133-3135)agG>agA	p.R1045R	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Silent_p.R978R|KCNT2_uc001gtf.1_Silent_p.R1021R|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc001gth.1_Silent_p.R549R	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	1045						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TTTCTGACCTCCTGTAGAGGT	0.428000														5			25		0	0	0.004656	0	0
TNXB	7148	broad.mit.edu	37	6	32020699	32020699	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:32020699G>A	uc003nzl.2	-	25	9059	c.8857C>T	c.(8857-8859)Ctg>Ttg	p.L2953L		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	3000	Fibronectin type-III 21.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AGCTCCCCCAGGAGCGGCTCC	0.647000														191			81		0	0	0.003610	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147926841	147926841	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:147926841C>T	uc003weu.2	+	19	3867	c.3351C>T	c.(3349-3351)atC>atT	p.I1117I		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	1117	Laminin G-like 4.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GTGTCAACATCACCCGCCACG	0.453000										HNSCC(39;0.1)				8			9		0	0	0.000978	0	0
FAM71A	149647	broad.mit.edu	37	1	212799950	212799950	+	RNA	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:212799950G>A	uc010pth.1	-	0		c.164C>T			FAM71A_uc001hjk.3_Silent_p.T577T			Q8IYT1	FA71A_HUMAN	Homo sapiens cDNA FLJ40118 fis, clone TESTI2009412.											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		GGCTGGAGACGGTTGGTTCTA	0.567000														84			20		0	0	0.001523	0	0
MORN3	283385	broad.mit.edu	37	12	122091160	122091160	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:122091160C>T	uc001uax.3	-	3	640	c.469G>A	c.(469-471)Ggg>Agg	p.G157R	MORN3_uc001uay.3_Intron	NM_173855	NP_776254	Q6PF18	MORN3_HUMAN	Homo sapiens MORN repeat containing 3 (MORN3), mRNA.	157										breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		TAGCGGTTCCCGTTCTCTGGG	0.592000														14			10		0	0	0.001368	0	0
IGSF1	3547	broad.mit.edu	37	X	130408770	130408770	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:130408770C>T	uc004ewe.4	-	17	3852	c.3569G>A	c.(3568-3570)gGa>gAa	p.G1190E	IGSF1_uc004ewd.3_Missense_Mutation_p.G1185E|IGSF1_uc022cdv.1_Missense_Mutation_p.G1176E|IGSF1_uc004ewf.2_Missense_Mutation_p.G1165E	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	1185	Ig-like C2-type 12.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	p.G1185V(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TGGCAGGGGTCCTCGGCACTG	0.507000														1			74		0	0	0.003610	0	0
OR8B8	26493	broad.mit.edu	37	11	124310552	124310552	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:124310552G>A	uc010sal.2	-	0	430	c.430C>T	c.(430-432)Ctt>Ttt	p.L144F		NM_012378	NP_036510	Q15620	OR8B8_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 8 (OR8B8), mRNA.	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		CCCAACAAAAGGAGAAAACAC	0.522000														10			11		0	0	0.001368	0	0
WWC1	23286	broad.mit.edu	37	5	167882523	167882523	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:167882523C>T	uc003lzu.3	+	18	2914	c.2821C>T	c.(2821-2823)Cgg>Tgg	p.R941W	WWC1_uc003lzv.3_Missense_Mutation_p.R941W|WWC1_uc011den.2_Missense_Mutation_p.R941W|WWC1_uc003lzw.3_Missense_Mutation_p.R740W|WWC1_uc010jjf.1_Missense_Mutation_p.R213W	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 3, mRNA.	941	Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GTACGTGTGCCGGGTAAGTGA	0.607000														29			27		0	0	0.001786	0	0
MCM6	4175	broad.mit.edu	37	2	136627886	136627886	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:136627886G>A	uc002tuw.3	-	2	376	c.300C>T	c.(298-300)gaC>gaT	p.D100D		NM_005915	NP_005906	Q14566	MCM6_HUMAN	Homo sapiens minichromosome maintenance complex component 6 (MCM6), mRNA.	100					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|cell cycle checkpoint	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	TCTCTTTACGGTCTTTGACGA	0.433000														93			132		0	0	0.003610	0	0
ZBED1	9189	broad.mit.edu	37	X	2406848	2406848	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:2406848G>A	uc022brx.1	-	0	1913	c.1913C>T	c.(1912-1914)cCc>cTc	p.P638L	DHRSX_uc004cqf.4_Intron|ZBED1_uc004cqh.2_Missense_Mutation_p.P638L|ZBED1_uc004cqg.2_Missense_Mutation_p.P638L|ZBED1_uc022brw.1_Missense_Mutation_p.P638L	NM_004729	NP_004720	O96006	ZBED1_HUMAN	Homo sapiens zinc finger, BED-type containing 1 (ZBED1), transcript variant 2, mRNA.	638						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CACGTGCGCGGGAGCCAGCCG	0.682000														78			66		0	0	0.003610	0	0
NNMT	4837	broad.mit.edu	37	11	114167419	114167419	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:114167419G>A	uc001por.1	+	2	405	c.141G>A	c.(139-141)aaG>aaA	p.K47K	NNMT_uc001pos.1_Silent_p.K47K	NM_006169	NP_006160	P40261	NNMT_HUMAN	Homo sapiens nicotinamide N-methyltransferase (NNMT), mRNA.	47					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	ATCTTTTCAAGATATTCTGCC	0.418000														30			32		0	0	0.004289	0	0
VAV2	7410	broad.mit.edu	37	9	136637129	136637129	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:136637129C>T	uc004ces.3	-	25	2221	c.2175G>A	c.(2173-2175)aaG>aaA	p.K725K	VAV2_uc004cer.3_Silent_p.K715K|VAV2_uc004cet.1_Silent_p.K264K	NM_001134398	NP_001127870	P52735	VAV2_HUMAN	Homo sapiens vav 2 guanine nucleotide exchange factor (VAV2), transcript variant 1, mRNA.	725	SH2.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|metal ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		TCCAGTTGTCCTTCTCCACCA	0.627000														52			61		0	0	0.003610	0	0
ZNF536	9745	broad.mit.edu	37	19	31039385	31039385	+	Silent	SNP	T	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:31039385T>C	uc002nsu.1	+	3	2997	c.2859T>C	c.(2857-2859)gaT>gaC	p.D953D	ZNF536_uc010edd.1_Silent_p.D953D	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	953					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.D953Y(2)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ACGGAGTGGATGGTGGTGAGG	0.547000														80			57		0	0	0.003610	0	0
NHSL2	340527	broad.mit.edu	37	X	71360303	71360303	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:71360303G>A	uc011mqa.2	+	5	2905	c.2905G>A	c.(2905-2907)Gga>Aga	p.G969R	NHSL2_uc004eak.1_Missense_Mutation_p.G603R|NHSL2_uc010nli.2_Missense_Mutation_p.G738R	NM_001013627	NP_001013649	F5H593	F5H593_HUMAN	Homo sapiens NHS-like 2 (NHSL2), mRNA.	969										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					GCCTCCCCAGGGAAGTGTAGA	0.532000														0			9		0	0	0.004482	0	0
SPIRE1	56907	broad.mit.edu	37	18	12449891	12449891	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:12449891A>G	uc002kre.3	-	16	2064	c.2017T>C	c.(2017-2019)Tcc>Ccc	p.S673P	SPIRE1_uc002krc.3_Non-coding_Transcript|SPIRE1_uc010wzw.2_Missense_Mutation_p.S539P|SPIRE1_uc010wzx.2_Missense_Mutation_p.S462P|SPIRE1_uc010wzy.2_Missense_Mutation_p.S659P	NM_001128626	NP_001122098	Q08AE8	SPIR1_HUMAN	Homo sapiens spire homolog 1 (Drosophila) (SPIRE1), transcript variant 1, mRNA.	673						cytoskeleton|perinuclear region of cytoplasm	actin binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						GATTTTGAGGAGAACCTGGGG	0.388000														30			14		0	0	0.003163	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33588759	33588759	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:33588759G>A	uc003jia.1	-	17	2973	c.2810C>T	c.(2809-2811)tCc>tTc	p.S937F	ADAMTS12_uc010iuq.1_Missense_Mutation_p.S852F	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	937	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCTGTTGCAGGAAAGGAGGGT	0.592000										HNSCC(64;0.19)				54			32		0	0	0.005524	0	0
CLVS2	134829	broad.mit.edu	37	6	123384874	123384874	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:123384874G>T	uc003pzi.1	+	5	1821	c.952G>T	c.(952-954)Gaa>Taa	p.E318*		NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN	Homo sapiens clavesin 2 (CLVS2), mRNA.	318					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						AAATGAGGAAGAAAACATGCA	0.388000														17			10		1.61879e-10	2.25278e-10	0.001368	1	0
FBLIM1	54751	broad.mit.edu	37	1	16101188	16101188	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:16101188C>T	uc001axd.1	+	7	1230	c.787C>T	c.(787-789)Cac>Tac	p.H263Y	FBLIM1_uc001axe.1_Missense_Mutation_p.H263Y|FBLIM1_uc001axg.1_Missense_Mutation_p.H263Y|FBLIM1_uc001axh.1_Missense_Mutation_p.H166Y|FBLIM1_uc001axi.1_Missense_Mutation_p.H166Y	NM_017556	NP_060026	Q8WUP2	FBLI1_HUMAN	Homo sapiens filamin binding LIM protein 1 (FBLIM1), transcript variant 1, mRNA.	263	LIM zinc-binding 2.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding			large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		CCAGGCCTTCCACCCCTCCTG	0.632000														86			23		0	0	0.005443	0	0
CAPN13	92291	broad.mit.edu	37	2	30987153	30987153	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:30987153C>T	uc021vfn.1	-	4	576	c.544G>A	c.(544-546)Gat>Aat	p.D182N	CAPN13_uc021vfm.1_Missense_Mutation_p.D182N|CAPN13_uc002rnp.1_Missense_Mutation_p.D182N	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	182	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TAGTGCAGATCGGAATAGGAT	0.587000														7			13		0	0	0.003163	0	0
GPR112	139378	broad.mit.edu	37	X	135428274	135428274	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:135428274A>T	uc004ezu.1	+	5	2700	c.2409A>T	c.(2407-2409)gaA>gaT	p.E803D	GPR112_uc010nsb.1_Missense_Mutation_p.E598D|GPR112_uc010nsc.1_Missense_Mutation_p.E570D	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	803					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTACTGAGGAAAGTGCTTCTG	0.388000														0			11		0	0	0.000978	0	0
KCNN3	3782	broad.mit.edu	37	1	154744858	154744858	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:154744858G>A	uc021pah.1	-	2	1355	c.1041C>T	c.(1039-1041)atC>atT	p.I347I	KCNN3_uc001ffo.3_Silent_p.I42I|KCNN3_uc001ffp.3_Silent_p.I347I|KCNN3_uc009wox.1_Silent_p.I347I	NM_001204087	NP_001191016	Q9UGI6	KCNN3_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (KCNN3), transcript variant 3, mRNA.	352				V -> A (in Ref. 1; AAC26099).		integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			CGCCATTGTCGATCACGAAGA	0.622000														12			14		0	0	0.003163	0	0
ANKS4B	257629	broad.mit.edu	37	16	21261902	21261902	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:21261902G>A	uc010bwp.1	+	1	1058	c.1015G>A	c.(1015-1017)Gag>Aag	p.E339K	CRYM_uc010bwq.1_Intron	NM_145865	NP_665872	Q8N8V4	ANS4B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 4B (ANKS4B), mRNA.	339										NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		AGTGGAGTGGGAGGAAGATGT	0.522000														35			22		0	0	0.003954	0	0
SCARF1	8578	broad.mit.edu	37	17	1538795	1538795	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:1538795G>A	uc002fsz.1	-	10	1800	c.1750C>T	c.(1750-1752)Cgg>Tgg	p.R584W	SCARF1_uc002fsy.1_3'UTR|SCARF1_uc002fta.1_Non-coding_Transcript|SCARF1_uc010cjv.1_Missense_Mutation_p.R498W	NM_003693	NP_003684	Q14162	SREC_HUMAN	Homo sapiens scavenger receptor class F, member 1 (SCARF1), transcript variant 1, mRNA.	584	Pro/Ser-rich.				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CGCTTGGCCCGAGCTAGGCTG	0.672000														45			22		0	0	0.002780	0	0
SLC9C2	284525	broad.mit.edu	37	1	173516897	173516897	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:173516897C>T	uc001giz.2	-	12	1911	c.1488G>A	c.(1486-1488)atG>atA	p.M496I	SLC9C2_uc009wwe.2_Missense_Mutation_p.M54I|SLC9C2_uc010pmq.1_Non-coding_Transcript	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	496					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										ATTCTGTCTTCATATCATTAT	0.333000														13			16		0	0	0.006122	0	0
PRB1	5542	broad.mit.edu	37	12	11506697	11506697	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:11506697G>A	uc001qzw.1	-	2	377	c.340C>T	c.(340-342)Cct>Tct	p.P114S	PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	114	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region		p.G114R(1)		NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTTCCTGGAGGAGGTGGGGGA	0.612000														315			73		0	0	0.003610	0	0
STOML3	161003	broad.mit.edu	37	13	39544384	39544384	+	Silent	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:39544384A>G	uc001uwx.3	-	4	592	c.454T>C	c.(454-456)Tta>Cta	p.L152L	STOML3_uc010tez.2_Silent_p.L143L	NM_145286	NP_660329	Q8TAV4	STML3_HUMAN	Homo sapiens stomatin (EPB72)-like 3 (STOML3), transcript variant 1, mRNA.	152						integral to membrane|plasma membrane				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		TGTGTCCCTAAGACATTTCTC	0.443000														57			57		0	0	0.003610	0	0
ABT1	29777	broad.mit.edu	37	6	26598804	26598804	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:26598804G>A	uc003nii.3	+	2	790	c.750G>A	c.(748-750)ctG>ctA	p.L250L		NM_013375	NP_037507	Q9ULW3	ABT1_HUMAN	Homo sapiens activator of basal transcription 1 (ABT1), mRNA.	250					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleolus	DNA binding|RNA binding|nucleotide binding|protein binding|transcription coactivator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11						AAGGGCTCCTGGCCAGGATCT	0.657000														18			13		0	0	0.001855	0	0
MAP1B	4131	broad.mit.edu	37	5	71492963	71492963	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:71492963C>T	uc003kbw.4	+	4	4022	c.3781C>T	c.(3781-3783)Cca>Tca	p.P1261S	MAP1B_uc010iyw.1_Missense_Mutation_p.P1278S|MAP1B_uc010iyx.1_Missense_Mutation_p.P1135S|MAP1B_uc010iyy.1_Missense_Mutation_p.P1135S	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	1261						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GTCCCTGAGTCCATCTCCACC	0.502000														38			37		0	0	0.007835	0	0
HYDIN	54768	broad.mit.edu	37	16	70852311	70852311	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:70852311G>A	uc002ezr.3	-	83	14740	c.14589C>T	c.(14587-14589)ttC>ttT	p.F4863F	HYDIN_uc010cfy.3_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	4864										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATTCCGTGGAGAAGGTCACCG	0.612000														0			6		0	0	0.004482	0	0
DSG1	1828	broad.mit.edu	37	18	28934455	28934455	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:28934455G>T	uc002kwp.3	+	14	2508	c.2296G>T	c.(2296-2298)Gaa>Taa	p.E766*	DSG1_uc010xbp.2_Nonsense_Mutation_p.E125*	NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	766					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			CCTAGGAAAAGAATCATATCC	0.473000														33			49		8.72198e-27	1.2234e-26	0.003610	1	0
NMUR2	56923	broad.mit.edu	37	5	151784030	151784030	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:151784030G>A	uc003luv.2	-	0	811	c.645C>T	c.(643-645)ttC>ttT	p.F215F		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA.	215					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			CCTGGATGATGAAATTGTAGA	0.532000														67			60		0	0	0.003610	0	0
PML	5371	broad.mit.edu	37	15	74336649	74336649	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:74336649C>T	uc002awv.3	+	8	2089	c.1949C>T	c.(1948-1950)tCc>tTc	p.S650F	PML_uc002awu.3_Missense_Mutation_p.S602F|PML_uc010ule.2_Missense_Mutation_p.S211F	NM_033238	NP_150241	P29590	PML_HUMAN	Homo sapiens promyelocytic leukemia (PML), transcript variant 1, mRNA.	650					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|PML body organization|cell cycle arrest|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	PML body|cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus	DNA binding|SUMO binding|cobalt ion binding|protein binding|protein heterodimerization activity|protein homodimerization activity|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						AGCATCTACTCCAAGGCCGTG	0.617000			T	"""RARA, PAX5"""	"""APL, ALL"""									6			75		0	0	0.003610	0	0
CEP72	55722	broad.mit.edu	37	5	637792	637792	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:637792G>A	uc003jbf.3	+	6	1137	c.1065G>A	c.(1063-1065)gaG>gaA	p.E355E	CEP72_uc011clz.1_Non-coding_Transcript	NM_018140	NP_060610	Q9P209	CEP72_HUMAN	Homo sapiens centrosomal protein 72kDa (CEP72), mRNA.	355					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			GCTGCCCGGAGAGAACTCATG	0.607000														13			8		0	0	0.003080	0	0
VAV2	7410	broad.mit.edu	37	9	136641194	136641194	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:136641194G>A	uc004ces.3	-	23	2020	c.1974C>T	c.(1972-1974)atC>atT	p.I658I	VAV2_uc004cer.3_Silent_p.I648I|VAV2_uc004cet.1_Silent_p.I197I	NM_001134398	NP_001127870	P52735	VAV2_HUMAN	Homo sapiens vav 2 guanine nucleotide exchange factor (VAV2), transcript variant 1, mRNA.	658					angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|metal ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		GCGGCCGGCTGATGGGCGGCT	0.632000														37			18		0	0	0.001882	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56702306	56702306	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:56702306G>A	uc010ygh.2	-	2	639	c.639C>T	c.(637-639)aaC>aaT	p.N213N		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA.	213					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GTCTCGGAGAGTTTGGGTCAC	0.502000														48			40		0	0	0.003214	0	0
NTN4	59277	broad.mit.edu	37	12	96059656	96059656	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:96059656G>A	uc001tei.3	-	8	2129	c.1680C>T	c.(1678-1680)ttC>ttT	p.F560F	NTN4_uc009ztf.3_Silent_p.F537F|NTN4_uc009ztg.3_Silent_p.F523F	NM_021229	NP_067052	Q9HB63	NET4_HUMAN	Homo sapiens netrin 4 (NTN4), mRNA.	560	NTR.				axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						GCTTTCCTCGGAAAATCTTCA	0.368000														20			7		0	0	0.003080	0	0
RHBDD2	57414	broad.mit.edu	37	7	75511493	75511493	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:75511493G>A	uc003udw.1	+	1	609	c.525G>A	c.(523-525)tcG>tcA	p.S175S	RHBDD2_uc003udv.1_Silent_p.S34S	NM_001040456	NP_001035547	Q6NTF9	RHBD2_HUMAN	Homo sapiens rhomboid domain containing 2 (RHBDD2), transcript variant 1, mRNA.	175						integral to membrane	serine-type endopeptidase activity			kidney(1)|lung(4)|prostate(1)	6						TGGGTGCCTCGTGGCTCATTC	0.597000														15			19		0	0	0.001523	0	0
ZP2	7783	broad.mit.edu	37	16	21210173	21210173	+	Silent	SNP	G	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:21210173G>T	uc010bwn.1	-	16	2110	c.2028C>A	c.(2026-2028)gcC>gcA	p.A676A	ZP2_uc002dii.2_Silent_p.A646A	NM_003460	NP_003451	Q05996	ZP2_HUMAN	Homo sapiens zona pellucida glycoprotein 2 (sperm receptor) (ZP2), mRNA.	646					binding of sperm to zona pellucida|intracellular protein transport	Golgi apparatus|endoplasmic reticulum|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		CTGCTTCAGTGGCCCCTGTGG	0.493000														9			4		0.00116845	0.00160997	0.001168	1	0
OSBPL5	114879	broad.mit.edu	37	11	3150335	3150335	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:3150335G>C	uc001lxk.2	-	1	202	c.44C>G	c.(43-45)cCa>cGa	p.P15R	OSBPL5_uc010qxq.1_5'Flank|OSBPL5_uc009ydw.2_Missense_Mutation_p.P15R|OSBPL5_uc001lxl.2_Missense_Mutation_p.P15R|OSBPL5_uc009ydx.3_Missense_Mutation_p.P39R|OSBPL5_uc001lxm.1_Non-coding_Transcript	NM_020896	NP_065947	Q9H0X9	OSBL5_HUMAN	Homo sapiens oxysterol binding protein-like 5 (OSBPL5), transcript variant 1, mRNA.	15					Golgi to plasma membrane transport|cholesterol metabolic process|cholesterol transport	cytosol	oxysterol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GGAGGAAGGTGGACACAGGGA	0.637000														0			2		0	0	0.004672	0	0
F8	2157	broad.mit.edu	37	X	154132587	154132587	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:154132587C>T	uc004fmt.3	-	16	5970	c.5799G>A	c.(5797-5799)gaG>gaA	p.E1933E	F8_uc010nvi.1_Silent_p.E92E	NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	1933	F5/8 type A 3.|Plastocyanin-like 6.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AGCGATAATTCTCTTTAAAAG	0.398000														6			81		0	0	0.003610	0	0
CXorf22	170063	broad.mit.edu	37	X	35974119	35974120	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:35974119_35974120GG>AA	uc004ddj.3	+	7	1282_1283	c.1216_1217GG>AA	c.(1216-1218)gga>AAa	p.G406K	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	406										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						GACAGGCACAGGACTTCCTGTT	0.356000														2			28		0	0	0.004672	0	0
DAB2IP	153090	broad.mit.edu	37	9	124534923	124534923	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:124534923G>T	uc004bln.3	+	11	2101	c.2032G>T	c.(2032-2034)Gaa>Taa	p.E678*	DAB2IP_uc004blo.3_Nonsense_Mutation_p.E582*|DAB2IP_uc004blp.3_Intron	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	Homo sapiens DAB2 interacting protein (DAB2IP), transcript variant 1, mRNA.	706					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|Ras GTPase activator activity|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						TCCAACCCCCGAAAACAAGGA	0.537000														38			58		1.05635e-38	1.48544e-38	0.003610	1	0
OR9Q2	219957	broad.mit.edu	37	11	57958403	57958403	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:57958403G>A	uc010rka.2	+	0	498	c.441G>A	c.(439-441)ggG>ggA	p.G147G		NM_001005283	NP_001005283	Q8NGE9	OR9Q2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily Q, member 2 (OR9Q2), mRNA.	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G147E(1)		breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				TAGTCACTGGGGCTTACGTTG	0.522000														34			16		0	0	0.004990	0	0
SPAG17	200162	broad.mit.edu	37	1	118567966	118567966	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:118567966G>A	uc001ehk.2	-	26	3872	c.3804C>T	c.(3802-3804)caC>caT	p.H1268H		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1268						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		AGAACTCATAGTGCTTCACCC	0.463000														10			27		0	0	0.004656	0	0
OR5D13	390142	broad.mit.edu	37	11	55541558	55541558	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:55541558C>T	uc010ril.2	+	0	645	c.645C>T	c.(643-645)atC>atT	p.I215I		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				GCCTAATTATCATTCTGACAT	0.438000														11			7		0	0	0.003080	0	0
CCDC8	83987	broad.mit.edu	37	19	46915802	46915802	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:46915802G>A	uc002pep.3	-	0	1118	c.266C>T	c.(265-267)cCg>cTg	p.P89L		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	Homo sapiens coiled-coil domain containing 8 (CCDC8), mRNA.	89						plasma membrane		p.P89L(2)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		CAGCCGGGGCGGAGGAGTCAC	0.677000														53			32		0	0	0.004289	0	0
SELP	6403	broad.mit.edu	37	1	169586429	169586430	+	Missense_Mutation	DNP	GG	AC	AC			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:169586429_169586430GG>AC	uc001ggi.4	-	2	382_383	c.317_318CC>GT	c.(316-318)acc>aGT	p.T106S	SELP_uc001ggh.3_5'UTR|SELP_uc009wvr.3_Missense_Mutation_p.T106S	NM_003005	NP_002996	P16109	LYAM3_HUMAN	Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA.	106	C-type lectin.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	GAGCCTTTTTGGTTCCCACCCA	0.441000														37			99		0	0	0.004672	0	0
OR4C46	119749	broad.mit.edu	37	11	51515683	51515683	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:51515683G>A	uc010ric.2	+	0	402	c.402G>A	c.(400-402)atG>atA	p.M134I		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 46 (OR4C46), mRNA.	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						TGACTATCATGAACCAGTGTG	0.483000														69			20		0	0	0.001882	0	0
CRNKL1	51340	broad.mit.edu	37	20	20018028	20018028	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:20018028C>T	uc002wrs.3	-	13	2350	c.2318G>A	c.(2317-2319)aGa>aAa	p.R773K		NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN	Homo sapiens crooked neck pre-mRNA splicing factor-like 1 (Drosophila) (CRNKL1), mRNA.	773					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						TTTGTCTACTCTCTCCTTATC	0.438000														63			70		0	0	0.003610	0	0
SLC6A5	9152	broad.mit.edu	37	11	20676362	20676362	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:20676362C>T	uc001mqd.3	+	15	2615	c.2342C>T	c.(2341-2343)tCc>tTc	p.S781F	SLC6A5_uc009yic.3_Missense_Mutation_p.S546F	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA.	781					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	GGAACCTCTTCCTTGGGACTC	0.552000														26			75		0	0	0.003610	0	0
SYNE2	23224	broad.mit.edu	37	14	64408666	64408666	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:64408666C>T	uc001xgl.3	+	4	531	c.301C>T	c.(301-303)Cta>Tta	p.L101L	SYNE2_uc001xgk.3_Silent_p.L101L|SYNE2_uc001xgm.3_Silent_p.L101L|SYNE2_uc021ruh.1_Silent_p.L101L	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	101	Actin-binding.|CH 1.				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTTGACATTCCTAAGAAACCG	0.333000														1			18		0	0	0.001216	0	0
CGN	57530	broad.mit.edu	37	1	151502584	151502585	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:151502584_151502585GG>AA	uc009wmw.3	+	11	2450_2451	c.2306_2307GG>AA	c.(2305-2307)cgg>cAA	p.R769Q		NM_020770	NP_065821	Q9P2M7	CING_HUMAN	Homo sapiens cingulin (CGN), mRNA.	763	Glu-rich.					myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			AAGCTGCAGCGGCTGGAGGTCA	0.589000														23			54		0	0	0.004672	0	0
TRIM42	287015	broad.mit.edu	37	3	140401985	140401985	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:140401985C>T	uc003eto.2	+	1	1229	c.1023C>T	c.(1021-1023)atC>atT	p.I341I		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	Homo sapiens tripartite motif containing 42 (TRIM42), mRNA.	341						intracellular	zinc ion binding	p.A340T(1)|p.A340A(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TCAGCGCCATCGCCAAGTTCA	0.542000														15			6		0	0	0.001984	0	0
SNRNP200	23020	broad.mit.edu	37	2	96964024	96964025	+	Silent	DNP	GG	TA	TA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:96964024_96964025GG>TA	uc002svu.3	-	8	1248_1249	c.1116_1117CC>TA	c.(1114-1119)atccga>atTAga	p.372_373IR>IR		NM_014014	NP_054733	O75643	U520_HUMAN	Homo sapiens small nuclear ribonucleoprotein 200kDa (U5) (SNRNP200), mRNA.	372						U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GTCCTTACTCGGATCAGATCCT	0.436000														74			100		0	0	0.004672	0	0
KRTAP5-6	440023	broad.mit.edu	37	11	1718667	1718667	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:1718667G>A	uc001lua.3	+	0	243	c.192G>A	c.(190-192)ggG>ggA	p.G64G	MOB2_uc001ltq.2_Intron	NM_001012416	NP_001012416	Q6L8G9	KRA56_HUMAN	Homo sapiens keratin associated protein 5-6 (KRTAP5-6), mRNA.	64	6 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCTCTTGTGGGGGCTCCAAAG	0.637000														81			24		0	0	0.005443	0	0
PCNXL2	80003	broad.mit.edu	37	1	233393996	233393996	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:233393996C>T	uc001hvl.2	-	4	1847	c.1612G>A	c.(1612-1614)Gat>Aat	p.D538N	PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	538						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AAGAAGACATCTGTCCCACTG	0.473000														12			24		0	0	0.003330	0	0
ANO4	121601	broad.mit.edu	37	12	101381408	101381408	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:101381408G>A	uc010svm.1	+	7	1266	c.694G>A	c.(694-696)Gac>Aac	p.D232N	ANO4_uc010svl.1_Non-coding_Transcript|ANO4_uc001thw.2_Missense_Mutation_p.D197N|ANO4_uc001thx.2_Missense_Mutation_p.D232N	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	232						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GGAGGAGAATGACTGCTACAC	0.498000										HNSCC(74;0.22)	OREG0022059	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		37			46		0	0	0.003214	0	0
COPE	11316	broad.mit.edu	37	19	19021835	19021835	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:19021835G>A	uc002nkk.3	-	2	277	c.235C>T	c.(235-237)Cct>Tct	p.P79S	COPE_uc002nkl.3_Missense_Mutation_p.P79S|COPE_uc002nkm.3_Missense_Mutation_p.P79S|HOMER3_uc002nkp.1_Intron|HOMER3_uc002nko.1_Non-coding_Transcript	NM_007263	NP_009194	O14579	COPE_HUMAN	Homo sapiens coatomer protein complex, subunit epsilon (COPE), transcript variant 1, mRNA.	79					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	binding|structural molecule activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	11						TGGAGCTCAGGGGCCGAGGAG	0.632000														50			25		0	0	0.002836	0	0
OTOF	9381	broad.mit.edu	37	2	26724665	26724665	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:26724665T>C	uc002rhk.3	-	7	849	c.722A>G	c.(721-723)gAc>gGc	p.D241G		NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	241	C2 1.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATCTTAATGTCTGGCTTAGA	0.562000														23			13		0	0	0.004007	0	0
SCN8A	6334	broad.mit.edu	37	12	52200889	52200889	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:52200889C>T	uc001ryw.3	+	26	5797	c.5619C>T	c.(5617-5619)ttC>ttT	p.F1873F	SCN8A_uc010snl.2_Silent_p.F1832F|hCG_1997999_uc001rzb.1_5'Flank	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA.	1873					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	AAGAGCGGTTCGTGGCATCCA	0.567000														64			36		0	0	0.004878	0	0
FBN2	2201	broad.mit.edu	37	5	127727722	127727722	+	Missense_Mutation	SNP	C	T	T	rs34450503	byFrequency	TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:127727722C>T	uc003kuu.3	-	10	2031	c.1592G>A	c.(1591-1593)gGa>gAa	p.G531E	FBN2_uc003kuv.2_Missense_Mutation_p.G498E	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	531	EGF-like 6.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TATACAATCTCCATTTGCATC	0.328000														25			30		0	0	0.003271	0	0
WDR65	149465	broad.mit.edu	37	1	43665161	43665161	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:43665161G>A	uc021omk.1	+	8	1675	c.1529G>A	c.(1528-1530)gGa>gAa	p.G510E	EBNA1BP2_uc001cio.3_Intron|WDR65_uc010ojz.2_Missense_Mutation_p.G499E|WDR65_uc001ciq.2_Missense_Mutation_p.G510E|WDR65_uc001cip.2_Missense_Mutation_p.G510E	NM_001195831	NP_001182760	Q96MR6	WDR65_HUMAN	Homo sapiens WD repeat domain 65 (WDR65), transcript variant 5, mRNA.	510										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGCCTGAAAGGACACACAGGG	0.502000														19			58		0	0	0.003610	0	0
PCDH7	5099	broad.mit.edu	37	4	30921781	30921781	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:30921781C>T	uc021xnd.1	+	1	4189	c.3181C>T	c.(3181-3183)Cgt>Tgt	p.R1061C	PCDH7_uc011bxx.2_Missense_Mutation_p.R1061C	NM_001173523	NP_001166994	O60245	PCDH7_HUMAN	Homo sapiens protocadherin 7 (PCDH7), transcript variant d, mRNA.	0					homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.L1061V(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GCAGCCATTTCGTAGAGTGAC	0.403000														9			13		0	0	0.001855	0	0
OR1E2	8388	broad.mit.edu	37	17	3336173	3336173	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:3336173G>A	uc010vre.2	-	0	963	c.963C>T	c.(961-963)ttC>ttT	p.F321F		NM_003554	NP_003545	P47887	OR1E2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily E, member 2 (OR1E2), mRNA.	321					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)	9						GTCATAGAAGGAAGGGATTTT	0.383000														32			16		0	0	0.004990	0	0
SYT1	6857	broad.mit.edu	37	12	79611463	79611463	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:79611463C>T	uc001sys.3	+	4	835	c.164C>T	c.(163-165)cCa>cTa	p.P55L	SYT1_uc001syt.3_Missense_Mutation_p.P55L|SYT1_uc001syu.3_Missense_Mutation_p.P55L|SYT1_uc001syv.3_Missense_Mutation_p.P55L	NM_001135805	NP_005630	P21579	SYT1_HUMAN	Homo sapiens synaptotagmin I (SYT1), transcript variant 2, mRNA.	55					detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity	p.P55S(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						CATAAAATTCCATGTGAGTAT	0.373000														32			8		0	0	0.006214	0	0
KLKB1	3818	broad.mit.edu	37	4	187179212	187179212	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:187179212G>A	uc003iyy.3	+	14	1834	c.1763G>A	c.(1762-1764)gGa>gAa	p.G588E	KLKB1_uc011clc.2_Missense_Mutation_p.G386E|KLKB1_uc011cld.2_Nonsense_Mutation_p.W503*	NM_000892	NP_000883	P03952	KLKB1_HUMAN	Homo sapiens kallikrein B, plasma (Fletcher factor) 1 (KLKB1), mRNA.	588	Peptidase S1.				Factor XII activation|blood coagulation, intrinsic pathway|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		AAACACAATGGAATGTGGCGT	0.478000														53			69		0	0	0.003610	0	0
OR5L1	219437	broad.mit.edu	37	11	55579528	55579528	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:55579528G>A	uc001nhw.1	+	0	586	c.586G>A	c.(586-588)Gag>Aag	p.E196K		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA.	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CACTGTGAATGAGACACTGCT	0.443000														48			19		0	0	0.001216	0	0
UGT2A1	10941	broad.mit.edu	37	4	70512682	70512682	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:70512682C>T	uc011caq.2	-	1	797	c.681G>A	c.(679-681)tgG>tgA	p.W227*	UGT2A1_uc010ihu.3_Nonsense_Mutation_p.W227*|UGT2A1_uc003hem.4_Nonsense_Mutation_p.W227*|UGT2A1_uc010iht.3_Nonsense_Mutation_p.W227*	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.	227					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						CCCATGATTTCCAAAGAGTTT	0.343000														6			6		0	0	0.001168	0	0
CSNK1G3	1456	broad.mit.edu	37	5	122923830	122923830	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:122923830C>T	uc003ktm.3	+	6	1461	c.742C>T	c.(742-744)Cct>Tct	p.P248S	CSNK1G3_uc003ktl.3_Missense_Mutation_p.P248S|CSNK1G3_uc003ktn.3_Missense_Mutation_p.P248S|CSNK1G3_uc003kto.3_Missense_Mutation_p.P248S|CSNK1G3_uc011cwr.2_Missense_Mutation_p.P173S|CSNK1G3_uc011cws.2_Missense_Mutation_p.P135S|CSNK1G3_uc010jda.3_Missense_Mutation_p.P248S	NM_004384	NP_004375	Q9Y6M4	KC1G3_HUMAN	Homo sapiens casein kinase 1, gamma 3 (CSNK1G3), transcript variant 1, mRNA.	248	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		AGGCAGTCTTCCTTGGCAAGG	0.294000														30			16		0	0	0.001216	0	0
C16orf62	57020	broad.mit.edu	37	16	19710899	19710899	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:19710899A>C	uc002dgn.2	+	29	3037	c.2722A>C	c.(2722-2724)Aag>Cag	p.K908Q	C16orf62_uc002dgo.2_Missense_Mutation_p.K904Q|C16orf62_uc002dgp.2_Missense_Mutation_p.K657Q	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN	Homo sapiens chromosome 16 open reading frame 62 (C16orf62), mRNA.	908						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						ACGCAACAACAAGCTCAACCA	0.587000														35			37		0	0	0.006999	0	0
ANKRD11	29123	broad.mit.edu	37	16	89345484	89345484	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:89345484G>A	uc002fmx.1	-	8	7927	c.7466C>T	c.(7465-7467)cCc>cTc	p.P2489L	ANKRD11_uc002fmy.1_Missense_Mutation_p.P2489L|ANKRD11_uc002fnc.1_Missense_Mutation_p.P2489L|ANKRD11_uc002fna.1_Missense_Mutation_p.P154L|ANKRD11_uc002fnb.1_Missense_Mutation_p.P2446L	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	2489						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		ACTCACCACGGGGATGTGGAG	0.662000														0			3		0	0	0.004672	0	0
SOCS3	9021	broad.mit.edu	37	17	76354883	76354883	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:76354883C>T	uc002jvl.2	-	1	710	c.294G>A	c.(292-294)gaG>gaA	p.E98E	SOCS3_uc021uee.1_Silent_p.E98E	NM_003955	NP_003946	O14543	SOCS3_HUMAN	Homo sapiens suppressor of cytokine signaling 3 (SOCS3), mRNA.	98	SH2.				JAK-STAT cascade|anti-apoptosis|interferon-gamma-mediated signaling pathway|regulation of growth|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol	protein kinase inhibitor activity			kidney(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554)			AGCTGCCCCCCTCACACTGGA	0.652000														17			10		0	0	0.000978	0	0
C12orf51	283450	broad.mit.edu	37	12	112677020	112677020	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:112677020A>G	uc021reb.1	-	33	5120	c.4724T>C	c.(4723-4725)gTa>gCa	p.V1575A		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						GCCACTGCGTACCAGGCACTT	0.517000														53			13		0	0	0.004007	0	0
CACNA1G	8913	broad.mit.edu	37	17	48703971	48703971	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:48703971C>T	uc002irk.1	+	37	7365	c.6993C>T	c.(6991-6993)ctC>ctT	p.L2331L	CACNA1G_uc002irj.1_Silent_p.L2125L|CACNA1G_uc002irl.1_Silent_p.L2215L|CACNA1G_uc002irm.1_Silent_p.L2252L|CACNA1G_uc002irn.1_Silent_p.L2197L|CACNA1G_uc002iro.1_Silent_p.L2204L|CACNA1G_uc002irp.1_Silent_p.L2286L|CACNA1G_uc002irq.1_Silent_p.L2308L|CACNA1G_uc002irr.1_Silent_p.L2238L|CACNA1G_uc002irs.1_Silent_p.L2275L|CACNA1G_uc002irt.1_Silent_p.L2220L|CACNA1G_uc002iru.1_Silent_p.L2297L|CACNA1G_uc002irv.1_Silent_p.L2227L|CACNA1G_uc002irw.1_Silent_p.L2260L|CACNA1G_uc002irx.1_Silent_p.L2072L|CACNA1G_uc002iry.1_Silent_p.L2061L|CACNA1G_uc002isg.1_Silent_p.L2099L|CACNA1G_uc002ish.1_Silent_p.L2106L|CACNA1G_uc002isi.1_Silent_p.L2094L|CACNA1G_uc002irz.1_Silent_p.L2144L|CACNA1G_uc002isa.1_Silent_p.L2117L|CACNA1G_uc002isd.1_Silent_p.L2126L|CACNA1G_uc002isb.1_Silent_p.L2158L|CACNA1G_uc002isc.1_Silent_p.L2233L|CACNA1G_uc002ise.1_Silent_p.L2154L|CACNA1G_uc002isf.1_Silent_p.L2181L	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	2331					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GTATCTGCCTCCGGAGGAGGG	0.647000											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		14			8		0	0	0.003080	0	0
CCKAR	886	broad.mit.edu	37	4	26483656	26483656	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:26483656C>T	uc003gse.1	-	4	1044	c.891G>A	c.(889-891)cgG>cgA	p.R297R		NM_000730	NP_000721	P32238	CCKAR_HUMAN	Homo sapiens cholecystokinin A receptor (CCKAR), mRNA.	297					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	AGCTGTTACTCCGGATGCGGT	0.602000														25			52		0	0	0.003610	0	0
RIMS1	22999	broad.mit.edu	37	6	72975145	72975145	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:72975145T>C	uc003pga.3	+	20	3324	c.3247T>C	c.(3247-3249)Tcc>Ccc	p.S1083P	RIMS1_uc011dyb.2_Intron|RIMS1_uc003pgc.3_Intron|RIMS1_uc010kaq.3_Intron|RIMS1_uc011dyc.2_Intron|RIMS1_uc010kar.3_Intron|RIMS1_uc011dyd.2_Intron|RIMS1_uc003pge.3_Intron|RIMS1_uc003pgf.3_Intron|RIMS1_uc003pgi.3_Intron|RIMS1_uc003pgg.3_Intron|RIMS1_uc003pgh.3_Intron|RIMS1_uc003pgd.3_Intron|RIMS1_uc011dye.2_Intron|RIMS1_uc011dyf.2_Intron|RIMS1_uc010kas.1_Intron	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	1083					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				ACAGGACATTTCCCTTCATCA	0.318000														20			11		0	0	0.001368	0	0
SLC4A1	6521	broad.mit.edu	37	17	42335459	42335459	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:42335459A>T	uc002igf.4	-	10	1326	c.1177T>A	c.(1177-1179)Tac>Aac	p.Y393N	SLC4A1_uc021tyc.1_Intron	NM_000342	NP_000333	P02730	B3AT_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.	393					bicarbonate transport|cellular ion homeostasis	Z disc|basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TCACTCAGGTAATAGGGGTAG	0.602000														49			45		0	0	0.003610	0	0
WISP2	8839	broad.mit.edu	37	20	43348728	43348729	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:43348728_43348729CC>TT	uc002xmp.3	+	1	398_399	c.251_252CC>TT	c.(250-252)ccc>cTT	p.P84L	LOC79015_uc002xml.1_Intron|WISP2_uc002xmo.1_Missense_Mutation_p.P84L|WISP2_uc002xmq.3_Missense_Mutation_p.P84L	NM_003881	NP_003872	O76076	WISP2_HUMAN	Homo sapiens WNT1 inducible signaling pathway protein 2 (WISP2), mRNA.	84	IGFBP N-terminal.				cell adhesion|cell-cell signaling|signal transduction	extracellular region|soluble fraction	insulin-like growth factor binding			skin(1)	1		Myeloproliferative disorder(115;0.0122)				GGGGCAGGACCCGGTGGCCGGG	0.703000														3			4		0	0	0.004672	0	0
OR56A5	390084	broad.mit.edu	37	11	5989432	5989432	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:5989432G>A	uc010qzu.2	-	0	293	c.293C>T	c.(292-294)cCt>cTt	p.P98L		NM_001146033	NP_001139505	P0C7T3	O56A5_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 5 (OR56A5), mRNA.	98						integral to membrane|plasma membrane	olfactory receptor activity										GAAGCAGGCAGGGAAGCTGAT	0.527000														7			7		0	0	0.003080	0	0
VAPA	9218	broad.mit.edu	37	18	9937007	9937007	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:9937007T>G	uc002kok.3	+	3	660	c.361T>G	c.(361-363)Tta>Gta	p.L121V	VAPA_uc002koj.3_Missense_Mutation_p.L121V	NM_194434	NP_919415	Q9P0L0	VAPA_HUMAN	Homo sapiens VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa (VAPA), transcript variant 2, mRNA.	121	MSP.				cell death|cellular membrane fusion|neuron projection development|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein localization in endoplasmic reticulum|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane|vesicle	protein heterodimerization activity|signal transducer activity|structural molecule activity			breast(1)|lung(2)|prostate(1)	4						ACCTGATGAATTAATGGATTC	0.363000														11			4		0	0	0.001168	0	0
IGFBPL1	347252	broad.mit.edu	37	9	38411434	38411434	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:38411434C>T	uc004aba.3	-	3	823	c.800G>A	c.(799-801)aGg>aAg	p.R267K	AK131521_uc004aaz.2_5'Flank	NM_001007563	NP_001007564	Q8WX77	IBPL1_HUMAN	Homo sapiens insulin-like growth factor binding protein-like 1 (IGFBPL1), mRNA.	267					regulation of cell growth	extracellular region	insulin-like growth factor binding			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(29;0.0437)|Lung(182;0.116)		GTGGAAGCTCCTGTATTTACT	0.473000														16			25		0	0	0.006320	0	0
C4BPB	725	broad.mit.edu	37	1	207265062	207265062	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:207265062A>T	uc009xcd.3	+	2	596	c.276A>T	c.(274-276)aaA>aaT	p.K92N	C4BPB_uc001hfi.3_Missense_Mutation_p.K101N|C4BPB_uc001hfj.3_Missense_Mutation_p.K102N|C4BPB_uc001hfl.3_Missense_Mutation_p.K102N|C4BPB_uc001hfk.3_Missense_Mutation_p.K101N|C4BPB_uc001hfm.3_Missense_Mutation_p.K102N|C4BPB_uc010pse.1_Missense_Mutation_p.K92N	NM_001017366	NP_001017366	P20851	C4BPB_HUMAN	Homo sapiens complement component 4 binding protein, beta (C4BPB), transcript variant 4, mRNA.	102	Sushi 2.				blood coagulation|complement activation, classical pathway|innate immune response	extracellular region				breast(2)|lung(1)|ovary(1)	4						TAAGTGACAAAATCACGTTTA	0.488000														69			17		0	0	0.006122	0	0
PCTP	58488	broad.mit.edu	37	17	53852169	53852169	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:53852169C>T	uc002iul.4	+	4	653	c.528C>T	c.(526-528)ttC>ttT	p.F176F	PCTP_uc002ium.4_Silent_p.F104F|PCTP_uc010dch.3_Non-coding_Transcript	NM_021213	NP_001095872	Q9UKL6	PPCT_HUMAN	Homo sapiens phosphatidylcholine transfer protein (PCTP), transcript variant 1, mRNA.	176	START.					cytosol	phosphatidylcholine binding|phosphatidylcholine transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10			BRCA - Breast invasive adenocarcinoma(1;0.00207)			TGTATTACTTCGATAACCCGG	0.463000														53			39		0	0	0.003214	0	0
LAMA1	284217	broad.mit.edu	37	18	6992613	6992613	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:6992613G>A	uc002knm.3	-	35	5209	c.5115C>T	c.(5113-5115)atC>atT	p.I1705I	LAMA1_uc010wzj.2_Silent_p.I1181I	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	1705	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTATCTGCATGATTTCTAGCA	0.378000														53			20		0	0	0.007413	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140182658	140182658	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:140182658C>T	uc003lhf.2	+	0	1876	c.1876C>T	c.(1876-1878)Ctg>Ttg	p.L626L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Silent_p.L626L	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	637	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGCGTGGGGCTGTACACGGG	0.652000														22			21		0	0	0.001882	0	0
B4GALNT4	338707	broad.mit.edu	37	11	381764	381765	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:381764_381765GG>AA	uc001lpb.3	+	19	3101_3102	c.3092_3093GG>AA	c.(3091-3093)agg>aAA	p.R1031K		NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 4 (B4GALNT4), mRNA.	1031						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTCCGCAGCAGGAAGGGCTCTC	0.688000														7			15		0	0	0.004672	0	0
CMYA5	202333	broad.mit.edu	37	5	79057666	79057666	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:79057666G>A	uc003kgc.3	+	7	11365	c.11293G>A	c.(11293-11295)Gaa>Aaa	p.E3765K		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	3765	Amphipathic helix H3.|Fibronectin type-III 1.					perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GACAGTGAAAGAAAGCTACTG	0.408000														15			6		0	0	0.004482	0	0
MYH1	4619	broad.mit.edu	37	17	10419324	10419324	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:10419324C>T	uc002gmo.3	-	4	518	c.424G>A	c.(424-426)Gcc>Acc	p.A142T	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	142	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CCTCGGTAGGCTGTCACCACC	0.527000														28			53		0	0	0.003610	0	0
GSDMA	284110	broad.mit.edu	37	17	38132228	38132228	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:38132228T>G	uc002htl.1	+	10	1191	c.1073T>G	c.(1072-1074)aTc>aGc	p.I358S	GSDMA_uc002htm.1_Missense_Mutation_p.I358S	NM_178171	NP_835465	Q96QA5	GSDMA_HUMAN	Homo sapiens gasdermin A (GSDMA), mRNA.	358					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						GAGAAAAAGATCCTACCCGTG	0.507000														3			5		0	0	0.001168	0	0
C11orf40	143501	broad.mit.edu	37	11	4598944	4598944	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:4598944C>T	uc010qyg.2	-	0	107	c.107G>A	c.(106-108)aGa>aAa	p.R36K		NM_144663	NP_653264	Q8WZ69	CK040_HUMAN	Homo sapiens chromosome 11 open reading frame 40 (C11orf40), mRNA.	36										large_intestine(3)|lung(1)|ovary(2)|stomach(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		aactttttctctctctgggca	0.582000														19			11		0	0	0.000673	0	0
NGFR	4804	broad.mit.edu	37	17	47583675	47583675	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:47583675G>A	uc002ioz.4	+	2	348	c.223G>A	c.(223-225)Gac>Aac	p.D75N		NM_002507	NP_002498	P08138	TNR16_HUMAN	Homo sapiens nerve growth factor receptor (NGFR), mRNA.	75					anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					GACGTTCTCCGACGTGGTGAG	0.677000														21			18		0	0	0.001882	0	0
ALS2	57679	broad.mit.edu	37	2	202619391	202619391	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:202619391G>A	uc002uyo.3	-	5	1831	c.1475C>T	c.(1474-1476)tCc>tTc	p.S492F	ALS2_uc002uyp.4_Missense_Mutation_p.S492F|ALS2_uc002uyq.3_Missense_Mutation_p.S492F	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) (ALS2), transcript variant 1, mRNA.	492					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity|protein homodimerization activity|protein serine/threonine kinase activator activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						GAGCCTGGGGGAAACTGAAAA	0.488000														13			16		0	0	0.006122	0	0
HEXB	3074	broad.mit.edu	37	5	74014703	74014703	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:74014703C>T	uc003kdf.4	+	10	1441	c.1324C>T	c.(1324-1326)Cct>Tct	p.P442S	HEXB_uc003kdd.3_Missense_Mutation_p.P217S|HEXB_uc003kdg.1_Intron|HEXB_uc010izi.1_Intron	NM_000521	NP_000512	P07686	HEXB_HUMAN	Homo sapiens hexosaminidase B (beta polypeptide) (HEXB), mRNA.	442					cell death	lysosome	cation binding|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)		ATCTGGCTTCCCTGTAATCCT	0.428000														33			21		0	0	0.001216	0	0
PYGL	5836	broad.mit.edu	37	14	51382154	51382154	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:51382154C>T	uc001wyu.3	-	10	1430	c.1303G>A	c.(1303-1305)Gaa>Aaa	p.E435K	PYGL_uc010tqq.2_Missense_Mutation_p.E401K	NM_002863	NP_002854	P06737	PYGL_HUMAN	Homo sapiens phosphorylase, glycogen, liver (PYGL), transcript variant 1, mRNA.	435					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	TTGCTTCCTTCCTCTTCTATC	0.473000														3			40		0	0	0.002852	0	0
SERPINB9	5272	broad.mit.edu	37	6	2900775	2900775	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:2900775G>A	uc003mug.3	-	1	192	c.71C>T	c.(70-72)cCt>cTt	p.P24L	AY927512_uc003mue.3_Non-coding_Transcript|SERPINB9_uc003muh.3_Missense_Mutation_p.P24L	NM_004155	NP_004146	P50453	SPB9_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 9 (SERPINB9), mRNA.	24					anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				GTTGTGCGAAGGGTTATCTTG	0.493000														83			34		0	0	0.003755	0	0
NLRP3	114548	broad.mit.edu	37	1	247587658	247587658	+	Missense_Mutation	SNP	G	A	A	rs121908153		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:247587658G>A	uc001icr.3	+	4	1051	c.913G>A	c.(913-915)Gat>Aat	p.D305N	NLRP3_uc001ics.3_Missense_Mutation_p.D305N|NLRP3_uc001icu.3_Missense_Mutation_p.D305N|NLRP3_uc001icw.3_Missense_Mutation_p.D305N|NLRP3_uc001icv.3_Missense_Mutation_p.D305N|NLRP3_uc010pyw.2_Missense_Mutation_p.D303N|NLRP3_uc001ict.1_Missense_Mutation_p.D303N	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	305	NACHT.		D -> G (in CINCA).|D -> N (in CINCA and MWS).		detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GGACGGCTTCGATGAGCTGCA	0.577000														47			18		0	0	0.002780	0	0
EPPK1	83481	broad.mit.edu	37	8	144940397	144940397	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:144940397T>C	uc003zaa.1	-	0	7038	c.7025A>G	c.(7024-7026)cAg>cGg	p.Q2342R		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2342						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGTGGCGATCTGGGCCTCCAG	0.687000														179			19		0	0	0.001523	0	0
AKR1C3	8644	broad.mit.edu	37	10	5149687	5149687	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:5149687G>A	uc001ihr.3	+	8	1147	c.964G>A	c.(964-966)Gaa>Aaa	p.E322K	AKR1C3_uc021pml.1_Missense_Mutation_p.E322K|AKR1C3_uc010qap.2_Missense_Mutation_p.E299K|AKR1C3_uc001ihu.3_Missense_Mutation_p.E322K	NM_003739	NP_003730	P42330	AK1C3_HUMAN	Homo sapiens aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II) (AKR1C3), transcript variant 1, mRNA.	322					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	ATATTCAGATGAATATTAACA	0.418000														17			11		0	0	0.001368	0	0
PLA2G5	5322	broad.mit.edu	37	1	20417136	20417136	+	Missense_Mutation	SNP	G	A	A	rs140232035	byFrequency	TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:20417136G>A	uc001bcx.3	+	9	1324	c.461G>A	c.(460-462)cGg>cAg	p.R154Q	PLA2G5_uc001bcy.3_Missense_Mutation_p.R123Q	NM_000929	NP_000920	P39877	PA2G5_HUMAN	Homo sapiens phospholipase A2, group V (PLA2G5), mRNA.	123					lipid catabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity			NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)		AGAAACCTACGGAGCTACAAC	0.537000														27			58		0	0	0.003610	0	0
RAD17	5884	broad.mit.edu	37	5	68682074	68682074	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:68682074A>T	uc003jwo.3	+	6	861	c.799A>T	c.(799-801)Aat>Tat	p.N267Y	RAD17_uc003jwg.3_Missense_Mutation_p.N256Y|RAD17_uc003jwi.3_Missense_Mutation_p.N256Y|RAD17_uc003jwh.3_Missense_Mutation_p.N256Y|RAD17_uc003jwj.3_Missense_Mutation_p.N256Y|RAD17_uc003jwk.3_Missense_Mutation_p.N256Y|RAD17_uc003jwl.3_Missense_Mutation_p.N256Y|RAD17_uc003jwm.3_Missense_Mutation_p.N91Y|RAD17_uc003jwn.3_Missense_Mutation_p.N170Y	NM_133339	NP_579917	O75943	RAD17_HUMAN	Homo sapiens RAD17 homolog (S. pombe) (RAD17), transcript variant 2, mRNA.	267					DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|cell cycle|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		TGGAGATAATAATCAAAGGTT	0.308000								Other conserved DNA damage response genes						54			59		0	0	0.003610	0	0
TEKT1	83659	broad.mit.edu	37	17	6718610	6718610	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:6718610G>A	uc002gdt.3	-	4	611	c.501C>T	c.(499-501)gcC>gcT	p.A167A	TEKT1_uc010vth.2_Silent_p.A21A	NM_053285	NP_444515	Q969V4	TEKT1_HUMAN	Homo sapiens tektin 1 (TEKT1), mRNA.	167					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				GATTGTACTTGGCAGAGCGGT	0.488000														61			21		0	0	0.002299	0	0
BFAR	51283	broad.mit.edu	37	16	14755850	14755850	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:14755850C>T	uc002dco.3	+	5	1166	c.885C>T	c.(883-885)ttC>ttT	p.F295F	BFAR_uc010uzh.2_Silent_p.F167F	NM_016561	NP_057645	Q9NZS9	BFAR_HUMAN	Homo sapiens bifunctional apoptosis regulator (BFAR), mRNA.	295					anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						CCGACACCTTCCTACCTTTCA	0.552000														64			47		0	0	0.003610	0	0
ZNF778	197320	broad.mit.edu	37	16	89294534	89294534	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:89294534G>A	uc021tms.1	+	6	2177	c.1838G>A	c.(1837-1839)gGa>gAa	p.G613E	ZNF778_uc010vpg.2_Missense_Mutation_p.G348E|ZNF778_uc002fmv.3_Missense_Mutation_p.G585E|ZNF778_uc002fmw.2_Missense_Mutation_p.G543E	NM_001201407	NP_001188336	Q96MU6	ZN778_HUMAN	Homo sapiens zinc finger protein 778 (ZNF778), transcript variant 1, mRNA.	585					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		ACTCACACTGGAGAGAAACCT	0.433000														2			43		0	0	0.002522	0	0
DNAH10	196385	broad.mit.edu	37	12	124359953	124359953	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:124359953C>T	uc001uft.4	+	45	7785	c.7760C>T	c.(7759-7761)tCg>tTg	p.S2587L		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	2587	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.S1179L(1)|p.S2587L(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGATTTATTTCGCTATTCAGT	0.443000														28			13		0	0	0.002450	0	0
ATRIP	84126	broad.mit.edu	37	3	48506283	48506283	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:48506283G>A	uc003ctf.1	+	11	2141	c.2109G>A	c.(2107-2109)agG>agA	p.R703R	ATRIP_uc011bbj.1_Silent_p.R576R|ATRIP_uc003ctg.1_Silent_p.R676R|TREX1_uc010hjy.3_5'UTR|TREX1_uc003ctj.3_5'UTR|TREX1_uc010hjz.3_5'Flank|TREX1_uc003ctk.3_5'Flank|TREX1_uc010hka.3_5'Flank	NM_130384	NP_569055	Q8WXE1	ATRIP_HUMAN	Homo sapiens ATR interacting protein (ATRIP), transcript variant 1, mRNA.	703					DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CAGTGCGGAGGGCAGGGGGAC	0.657000								Other conserved DNA damage response genes						9			12		0	0	0.001368	0	0
APOBR	55911	broad.mit.edu	37	16	28507415	28507415	+	Silent	SNP	G	A	A	rs71657822		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:28507415G>A	uc002dqb.2	+	1	1086	c.1053G>A	c.(1051-1053)ggG>ggA	p.G351G	NPIPL1_uc010vct.2_Intron|APOBR_uc010byg.2_5'UTR	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN	Homo sapiens apolipoprotein B receptor (APOBR), mRNA.	351	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						CCTCAGGAGGGGAGGAGGCCG	0.706000														11			17		0	0	0.007413	0	0
MYO3A	53904	broad.mit.edu	37	10	26490216	26490216	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:26490216G>A	uc001isn.2	+	32	4928	c.4568G>A	c.(4567-4569)cGa>cAa	p.R1523Q	MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	1523					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GAAGAAAAACGAAGACCAAGG	0.239000														6			5		0	0	0.001984	0	0
VSTM4	196740	broad.mit.edu	37	10	50285269	50285269	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:50285269G>A	uc001jhf.2	-	3	658	c.629C>T	c.(628-630)tCc>tTc	p.S210F		NM_001031746	NP_001026916	Q8IW00	CJ072_HUMAN	Homo sapiens V-set and transmembrane domain containing 4 (VSTM4), transcript variant 1, mRNA.	210						integral to membrane|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						CTTACCTCTGGATTTCCGCTT	0.517000														13			11		0	0	0.000673	0	0
THBS4	7060	broad.mit.edu	37	5	79368145	79368145	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:79368145G>A	uc021yaw.1	+	13	1956	c.1765G>A	c.(1765-1767)Gac>Aac	p.D589N	BC047373_uc003kgi.4_Intron	NM_003248	NP_003239	P35443	TSP4_HUMAN	Homo sapiens thrombospondin 4 (THBS4), mRNA.	589					endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		TCCCAATCGTGACCAACGGGA	0.463000														181			131		0	0	0.003610	0	0
LAMB2	3913	broad.mit.edu	37	3	49168499	49168500	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:49168499_49168500GG>AA	uc003cwe.3	-	6	1097_1098	c.798_799CC>TT	c.(796-801)atccga>atTTga	p.R267*	LAMB2_uc003cwf.1_Nonsense_Mutation_p.R267*	NM_002292	NP_002283	P55268	LAMB2_HUMAN	Homo sapiens laminin, beta 2 (laminin S) (LAMB2), mRNA.	267	Laminin N-terminal.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	p.I266M(2)		NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TACTTCTCTCGGATCTCCCTCC	0.584000														16			21		0	0	0.004672	0	0
TNFSF11	8600	broad.mit.edu	37	13	43148574	43148574	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:43148574C>T	uc001uyu.2	+	0	284	c.135C>T	c.(133-135)tcC>tcT	p.S45S	TNFSF11_uc001uyt.2_Intron	NM_003701	NP_143026	O14788	TNF11_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 11 (TNFSF11), transcript variant 1, mRNA.	45					immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell activation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of osteoclast differentiation	cytoplasm|extracellular space|integral to plasma membrane	cytokine activity|receptor activity|tumor necrosis factor receptor binding			kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)		CTGCCGCCTCCCGCTCCATGT	0.736000														16			17		0	0	0.001523	0	0
TAF2	6873	broad.mit.edu	37	8	120759033	120759033	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:120759033G>A	uc003you.3	-	22	3290	c.3020C>T	c.(3019-3021)cCt>cTt	p.P1007L		NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	Homo sapiens TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa (TAF2), mRNA.	1007					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AATTATGGTAGGATTCAAGAC	0.433000														31			63		0	0	0.003610	0	0
CES1	1066	broad.mit.edu	37	16	55862744	55862744	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:55862744C>T	uc002eim.3	-	1	300	c.192G>A	c.(190-192)agG>agA	p.R64R	CES1_uc002eil.3_Silent_p.R65R|CES1_uc002ein.3_Silent_p.R64R	NM_001025194	NP_001020365	P23141	EST1_HUMAN	Homo sapiens carboxylesterase 1 (CES1), transcript variant 2, mRNA.	64				R -> G (in Ref. 18; CAA37147).	response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	GTGGAGTAAACCTCAGGGGTC	0.542000														19			46		0	0	0.003610	0	0
PRAMEF8	391002	broad.mit.edu	37	1	12979810	12979810	+	Silent	SNP	C	T	T	rs144939857		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:12979810C>T	uc001aup.3	+	3	1085	c.1002C>T	c.(1000-1002)ttC>ttT	p.F334F		NM_001012276	NP_001012277	Q5VWM4	PRAM8_HUMAN	Homo sapiens PRAME family member 8 (PRAMEF8), mRNA.	334												Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGACCCATTTCAGCCCTGAGC	0.577000														58			18		0	0	0.001216	0	0
ILDR2	387597	broad.mit.edu	37	1	166926004	166926004	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:166926004C>T	uc001gdx.2	-	2	521	c.465G>A	c.(463-465)ggG>ggA	p.G155G		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 2 (ILDR2), mRNA.	155	Ig-like V-type.					integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						CCTCATTTTTCCCCTCCAGGT	0.438000														11			45		0	0	0.003214	0	0
FUT9	10690	broad.mit.edu	37	6	96651992	96651992	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:96651992G>A	uc003pop.4	+	2	1302	c.961G>A	c.(961-963)Gat>Aat	p.D321N	FUT9_uc021zcw.1_Missense_Mutation_p.D321N	NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	Homo sapiens fucosyltransferase 9 (alpha (1,3) fucosyltransferase) (FUT9), mRNA.	321					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		CTGGAGGAAGGATTTCACTGT	0.368000														14			14		0	0	0.002450	0	0
HNF1B	6928	broad.mit.edu	37	17	36065052	36065052	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:36065052G>A	uc002hok.4	-	5	1432	c.1211C>T	c.(1210-1212)tCa>tTa	p.S404L	HNF1B_uc021tvu.1_Missense_Mutation_p.S174L|HNF1B_uc010wdi.2_Missense_Mutation_p.S378L|HNF1B_uc021tvv.1_Missense_Mutation_p.S404L|HNF1B_uc021tvw.1_Missense_Mutation_p.S378L	NM_000458	NP_000449	P35680	HNF1B_HUMAN	Homo sapiens HNF1 homeobox B (HNF1B), transcript variant 1, mRNA.	404					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			TCCTGAGACTGAGATCTGATG	0.488000														140			84		0	0	0.003610	0	0
KIAA1614	57710	broad.mit.edu	37	1	180885859	180885859	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:180885859C>T	uc001gok.2	+	1	687	c.620C>T	c.(619-621)tCt>tTt	p.S207F		NM_020950	NP_066001	Q5VZ46	K1614_HUMAN	Homo sapiens KIAA1614 (KIAA1614), mRNA.	207										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GGGCCCAGCTCTTTGCAACAG	0.602000														31			79		0	0	0.003610	0	0
RP1	6101	broad.mit.edu	37	8	55540842	55540842	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:55540842C>T	uc003xsd.1	+	3	4548	c.4400C>T	c.(4399-4401)tCt>tTt	p.S1467F	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1467					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.E1466*(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GAATTGGAATCTTTTGAAGAA	0.378000														2			18		0	0	0.007413	0	0
CNGB3	54714	broad.mit.edu	37	8	87680386	87680386	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:87680386C>T	uc003ydx.3	-	4	552	c.504G>A	c.(502-504)acG>acA	p.T168T	CNGB3_uc010maj.3_Silent_p.T30T	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	168					signal transduction|visual perception	integral to membrane	cGMP binding	p.T168M(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						GTGGTACAGCCGTGGGCTTTG	0.358000														25			13		0	0	0.002450	0	0
MUC6	4588	broad.mit.edu	37	11	1015761	1015761	+	Splice_Site	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:1015761C>T	uc001lsw.2	-	31	7090	c.7039_splice	c.e31+1	p.G2347_splice		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	2347					maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ATGCCACTTACCGGGTGAGGT	0.622000														20			7		0	0	0.004482	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47534382	47534382	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:47534382T>A	uc001cqu.1	+	1	269	c.266T>A	c.(265-267)aTg>aAg	p.M89K		NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 1 (CYP4Z1), mRNA.	89						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	p.T88T(1)		cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						CCCTTTACGATGTTCTTCAGT	0.443000														30			75		0	0	0.003610	0	0
ELP2	55250	broad.mit.edu	37	18	33713200	33713200	+	Splice_Site	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:33713200G>A	uc010xcg.2	+	2	199	c.139_splice	c.e2-1	p.K47_splice	ELP2_uc002kzk.2_Splice_Site_p.K47_splice|ELP2_uc002kzl.2_Splice_Site|ELP2_uc002kzm.2_Splice_Site_p.K47_splice|ELP2_uc010xch.2_Splice_Site_p.K47_splice|ELP2_uc002kzn.2_Splice_Site_p.K47_splice|ELP2_uc002kzo.2_Splice_Site_p.K47_splice	NM_001242875	NP_001229804	Q6IA86	ELP2_HUMAN	Homo sapiens elongation protein 2 homolog (S. cerevisiae) (ELP2), transcript variant 1, mRNA.	47					regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						CTTCTCTAAAGAAAAGGGTTG	0.328000														13			15		0	0	0.002450	0	0
NDNF	79625	broad.mit.edu	37	4	121957991	121957991	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:121957991G>A	uc003idq.1	-	3	1662	c.1135C>T	c.(1135-1137)Cac>Tac	p.H379Y		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	Homo sapiens neuron-derived neurotrophic factor (NDNF), mRNA.	379										breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						AGACAAGAGTGAATAAAGAAG	0.408000														36			7		0	0	0.001984	0	0
MUC16	94025	broad.mit.edu	37	19	9084598	9084598	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:9084598G>A	uc002mkp.3	-	0	7421	c.7217C>T	c.(7216-7218)tCt>tTt	p.S2406F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2406	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						AGAGAAGAGAGATGGGGAGGA	0.468000														22			19		0	0	0.001216	0	0
KIF1C	10749	broad.mit.edu	37	17	4927149	4927150	+	Missense_Mutation	DNP	CC	GT	GT			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:4927149_4927150CC>GT	uc002gan.2	+	22	3372_3373	c.3015_3016CC>GT	c.(3013-3018)ccccct>ccGTct	p.P1006S		NM_006612	NP_006603	O43896	KIF1C_HUMAN	Homo sapiens kinesin family member 1C (KIF1C), mRNA.	1006	Pro-rich.				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	Golgi apparatus|endoplasmic reticulum|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						CGCTCCAACCCCCTGAGGAGGT	0.688000														29			7		0	0	0.004672	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43862455	43862455	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:43862455C>T	uc010skx.2	-	7	1171	c.1171G>A	c.(1171-1173)Gaa>Aaa	p.E391K		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	391	Peptidase M12B.					proteinaceous extracellular matrix	zinc ion binding	p.E391Q(3)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CCTTTTTCTTCATTAATAAAG	0.343000														53			18		0	0	0.002780	0	0
SORL1	6653	broad.mit.edu	37	11	121498415	121498415	+	Silent	SNP	C	T	T	rs12270682		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:121498415C>T	uc001pxx.3	+	46	6645	c.6516C>T	c.(6514-6516)ttC>ttT	p.F2172F	SORL1_uc010rzp.1_Silent_p.F1018F|SORL1_uc010rzq.1_Silent_p.F787F	NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	2172					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TCACCGCCTTCGCCAACAGCC	0.612000														22			16		0	0	0.001216	0	0
COL9A1	1297	broad.mit.edu	37	6	70926715	70926715	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:70926715C>T	uc003pfg.4	-	37	2810	c.2651G>A	c.(2650-2652)gGa>gAa	p.G884E	COL9A1_uc003pfe.4_Missense_Mutation_p.G433E|COL9A1_uc003pff.4_Missense_Mutation_p.G641E	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	884	Triple-helical region (COL1).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TCCAGGAATTCCTGCCACCCC	0.607000														25			28		0	0	0.001786	0	0
TMC3	342125	broad.mit.edu	37	15	81636306	81636306	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:81636306G>A	uc021ssk.1	-	13	1599	c.1599C>T	c.(1597-1599)ttC>ttT	p.F533F	TMC3_uc021ssj.1_Silent_p.F533F|TMC3_uc010blr.1_Non-coding_Transcript|TMC3_uc002bgp.3_Silent_p.F533F	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.	533						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						AGTACCGCACGAAAAGTCCTC	0.473000														1			29		0	0	0.001512	0	0
NAP1L2	4674	broad.mit.edu	37	X	72433251	72433251	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:72433251T>C	uc004ebi.3	-	0	1460	c.1078A>G	c.(1078-1080)Act>Gct	p.T360A		NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	Homo sapiens nucleosome assembly protein 1-like 2 (NAP1L2), mRNA.	360					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					TCAGTTACAGTTCGGATTGTT	0.378000														3			32		0	0	0.001786	0	0
TTN	7273	broad.mit.edu	37	2	179398942	179398942	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:179398942C>T	uc021vsy.1	-	306	94921	c.94696G>A	c.(94696-94698)Gaa>Aaa	p.E31566K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E25261K|TTN_uc021vta.1_Missense_Mutation_p.E25194K|TTN_uc021vtb.1_Missense_Mutation_p.E25069K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	32493							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGCCAATTTCAATGGATGCC	0.443000														35			9		0	0	0.004482	0	0
DDX41	51428	broad.mit.edu	37	5	176941707	176941707	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:176941707G>A	uc003mho.3	-	8	951	c.930C>T	c.(928-930)atC>atT	p.I310I	DDX41_uc003mhn.3_Silent_p.I179I|DDX41_uc003mhp.3_Silent_p.I179I|DDX41_uc003mhq.1_Silent_p.I90I	NM_016222	NP_057306	Q9UJV9	DDX41_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 41 (DDX41), mRNA.	310	Helicase ATP-binding.				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding|zinc ion binding					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			CTCACTGTCGGATGGTCTCCA	0.597000														120			90		0	0	0.003610	0	0
MAML2	84441	broad.mit.edu	37	11	95712456	95712456	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:95712456G>A	uc001pfw.1	-	4	4412	c.3127C>T	c.(3127-3129)Ccc>Tcc	p.P1043S		NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN	Homo sapiens mastermind-like 2 (Drosophila) (MAML2), mRNA.	1043					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				CCCCTGAGGGGACCCATGGTT	0.498000			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid									12			13		0	0	0.002450	0	0
IGSF10	285313	broad.mit.edu	37	3	151155510	151155510	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:151155510A>G	uc011bod.2	-	5	6839	c.6839T>C	c.(6838-6840)tTc>tCc	p.F2280S	IGSF10_uc011bob.2_Missense_Mutation_p.F307S|IGSF10_uc011boc.2_Missense_Mutation_p.F259S	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	2280	Ig-like C2-type 9.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGCTGTGAGGAAAATATTGTC	0.428000														31			17		0	0	0.006122	0	0
ZNF213	7760	broad.mit.edu	37	16	3190892	3190893	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:3190892_3190893CC>TT	uc010uws.2	+	5	1371_1372	c.924_925CC>TT	c.(922-927)ttccgg>ttTTgg	p.R309W	ZNF213_uc002cud.3_Non-coding_Transcript|ZNF213_uc010btf.3_3'UTR|ZNF213_uc010bth.3_Missense_Mutation_p.R309W|ZNF213_uc010uwt.2_3'UTR	NM_004220	NP_004211	O14771	ZN213_HUMAN	Homo sapiens zinc finger protein 213 (ZNF213), transcript variant 1, mRNA.	309					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						GGCGCCAGTTCCGGGACCTGGC	0.757000														2			5		0	0	0.004672	0	0
ARSH	347527	broad.mit.edu	37	X	2942157	2942157	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:2942157G>A	uc011mhj.2	+	5	997	c.997G>A	c.(997-999)Ggg>Agg	p.G333R		NM_001011719	NP_001011719	Q5FYA8	ARSH_HUMAN	Homo sapiens arylsulfatase family, member H (ARSH), mRNA.	333						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GCCCCTGGACGGGGCTGTTCA	0.552000														1			27		0	0	0.005443	0	0
IARS	3376	broad.mit.edu	37	9	95003199	95003199	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:95003199G>A	uc004art.1	-	29	3479	c.3222C>T	c.(3220-3222)tcC>tcT	p.S1074S	IARS_uc004ars.1_Silent_p.S919S|IARS_uc004aru.3_Silent_p.S1074S|IARS_uc010mqr.2_Silent_p.S964S|IARS_uc010mqt.2_Silent_p.S297S	NM_013417	NP_038203	P41252	SYIC_HUMAN	Homo sapiens isoleucyl-tRNA synthetase (IARS), transcript variant long, mRNA.	1074					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	GACCAGGAAGGGAAGATCCTC	0.423000														39			14		0	0	0.007413	0	0
TDRD1	56165	broad.mit.edu	37	10	115981144	115981144	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:115981144G>A	uc001lbg.1	+	19	2952	c.2799G>A	c.(2797-2799)acG>acA	p.T933T	TDRD1_uc001lbf.3_Silent_p.T810T|TDRD1_uc001lbh.1_Silent_p.T920T|TDRD1_uc001lbi.1_Silent_p.T924T|TDRD1_uc010qsc.2_Silent_p.T537T|TDRD1_uc001lbj.3_Silent_p.T642T	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	Homo sapiens tudor domain containing 1 (TDRD1), mRNA.	933					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		AATGGAAGACGATAGAATTGC	0.368000														23			24		0	0	0.003330	0	0
MICAL3	57553	broad.mit.edu	37	22	18382265	18382265	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:18382265G>A	uc002zng.4	-	6	1250	c.897C>T	c.(895-897)ttC>ttT	p.F299F	MICAL3_uc011agl.2_Silent_p.F299F|MICAL3_uc002znh.2_Silent_p.F299F|MICAL3_uc002znj.1_5'UTR|MICAL3_uc002znk.1_Silent_p.F299F|MICAL3_uc002znl.1_Intron|MICAL3_uc010grf.3_Silent_p.F299F|MICAL3_uc011agm.1_Silent_p.F299F	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.	299						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CTGTCATAACGAAATAGTGTG	0.413000														14			8		0	0	0.000673	0	0
LRP5	4041	broad.mit.edu	37	11	68181200	68181200	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:68181200C>T	uc001ont.3	+	11	2622	c.2547C>T	c.(2545-2547)ttC>ttT	p.F849F	LRP5_uc009ysg.3_Silent_p.F259F	NM_002335	NP_002326	O75197	LRP5_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.	849	Beta-propeller 3.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CGCACCCGTTCGGTCTGACGC	0.602000														30			25		0	0	0.001512	0	0
SLC8A3	6547	broad.mit.edu	37	14	70527562	70527562	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:70527562C>T	uc001xly.3	-	2	2633	c.1879G>A	c.(1879-1881)Gga>Aga	p.G627R	SLC8A3_uc001xlv.3_Missense_Mutation_p.G4R|SLC8A3_uc001xlu.3_Intron|SLC8A3_uc001xlw.3_Missense_Mutation_p.G627R|SLC8A3_uc001xlx.3_Intron|SLC8A3_uc001xlz.3_Missense_Mutation_p.G627R|SLC8A3_uc010ara.3_Intron|SLC8A3_uc001xma.2_Intron	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	627					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CCTGATATTCCACGTTCCATC	0.328000														33			17		0	0	0.001216	0	0
CES2	8824	broad.mit.edu	37	16	66974489	66974489	+	Missense_Mutation	SNP	C	T	T	rs145407778	byFrequency	TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:66974489C>T	uc002eqr.3	+	4	1899	c.899C>T	c.(898-900)tCg>tTg	p.S300L	CES2_uc002eqq.3_Missense_Mutation_p.S300L|CES2_uc002eqs.3_Missense_Mutation_p.S143L	NM_003869	NP_003860	O00748	EST2_HUMAN	Homo sapiens carboxylesterase 2 (CES2), transcript variant 1, mRNA.	236					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		AGTGTGTCTTCGCTTGTTGTG	0.597000														0			37		0	0	0.002222	0	0
CYP4B1	1580	broad.mit.edu	37	1	47279584	47279584	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:47279584G>A	uc001cqn.4	+	5	708	c.624G>A	c.(622-624)agG>agA	p.R208R	CYP4B1_uc009vyl.1_Splice_Site_p.R44_splice|CYP4B1_uc001cqm.4_Splice_Site_p.R207_splice|CYP4B1_uc009vym.3_Silent_p.R193R|CYP4B1_uc010omk.2_Splice_Site_p.R44_splice|CYP4B1_uc010oml.1_Silent_p.R45R	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.	207					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					TGCTTAGCAGGGACAGCAGCT	0.542000														101			21		0	0	0.001882	0	0
FAT1	2195	broad.mit.edu	37	4	187521124	187521124	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:187521124G>A	uc003izf.3	-	21	12219	c.12031C>T	c.(12031-12033)Ctg>Ttg	p.L4011L		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	4011					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTGGCCGTCAGGAAGCAGCCT	0.532000										HNSCC(5;0.00058)				39			60		0	0	0.003610	0	0
MYH1	4619	broad.mit.edu	37	17	10409372	10409372	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:10409372G>A	uc002gmo.3	-	17	2107	c.2013C>T	c.(2011-2013)ccC>ccT	p.P671P	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	671	Actin-binding (By similarity).|Myosin head-like.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GCACAAAGTGGGGGTGAGTGC	0.413000														65			33		0	0	0.003610	0	0
WDR67	93594	broad.mit.edu	37	8	124105884	124105884	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:124105884C>T	uc003ypp.2	+	4	663	c.573C>T	c.(571-573)tcC>tcT	p.S191S	WDR67_uc011lig.2_Silent_p.S191S|WDR67_uc011lih.2_Silent_p.S81S|WDR67_uc003ypq.2_Non-coding_Transcript|WDR67_uc003ypo.1_Silent_p.S191S|WDR67_uc003ypr.3_Non-coding_Transcript	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	Homo sapiens WD repeat domain 67 (WDR67), transcript variant 1, mRNA.	191						centrosome	Rab GTPase activator activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			AAGATAATTCCATTTTTGCCT	0.353000														17			23		0	0	0.005443	0	0
MICAL3	57553	broad.mit.edu	37	22	18300713	18300713	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:18300713C>T	uc002zng.4	-	25	5067	c.4714G>A	c.(4714-4716)Gag>Aag	p.E1572K	MICAL3_uc011agl.2_Missense_Mutation_p.E1488K|MICAL3_uc010gre.2_5'Flank	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.	1572						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		AGCGTCCCCTCCAGAGCAGGC	0.682000														23			17		0	0	0.001882	0	0
DNAH5	1767	broad.mit.edu	37	5	13716770	13716770	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:13716770C>T	uc003jfd.2	-	73	12777	c.12735G>A	c.(12733-12735)atG>atA	p.M4245I	DNAH5_uc003jfc.2_Missense_Mutation_p.M413I	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4245					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCTCTCCTATCATGTAGCGGA	0.403000									Kartagener syndrome					24			15		0	0	0.007413	0	0
EVX2	344191	broad.mit.edu	37	2	176947031	176947031	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:176947031G>A	uc010zeu.2	-	1	760	c.574C>T	c.(574-576)Cgt>Tgt	p.R192C		NM_001080458	NP_001073927	Q03828	EVX2_HUMAN	Homo sapiens even-skipped homeobox 2 (EVX2), mRNA.	192						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		AACGCCGTACGGTAGCGCCGC	0.721000														4			4		0	0	0.000248	0	0
CCDC149	91050	broad.mit.edu	37	4	24836586	24836586	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:24836586G>A	uc003grc.3	-	7	903	c.804C>T	c.(802-804)gtC>gtT	p.V268V	CCDC149_uc003grd.3_Intron|CCDC149_uc011bxr.2_Silent_p.V268V|CCDC149_uc003gre.3_Silent_p.V213V|CCDC149_uc003gra.2_Silent_p.V141V	NM_001130726	NP_001124198	B4DZG3	B4DZG3_HUMAN	Homo sapiens coiled-coil domain containing 149 (CCDC149), transcript variant 2, mRNA.	268										cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7		Breast(46;0.173)				TTGCAGACAGGACTCCTGTCA	0.507000														33			53		0	0	0.003610	0	0
CCNL2	81669	broad.mit.edu	37	1	1330820	1330820	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:1330820A>G	uc001afi.2	-	3	580	c.548T>C	c.(547-549)gTt>gCt	p.V183A	CCNL2_uc001aff.1_5'Flank|CCNL2_uc001afg.1_5'UTR|CCNL2_uc001afj.2_5'UTR|CCNL2_uc021oep.1_Missense_Mutation_p.V183A	NM_030937	NP_112199	Q96S94	CCNL2_HUMAN	Homo sapiens cyclin L2 (CCNL2), transcript variant 1, mRNA.	183	Cyclin-like 1.				RNA processing|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		CTCTTTGAGAACTCGTCTTTC	0.532000														11			21		0	0	0.001216	0	0
PTGS1	5742	broad.mit.edu	37	9	125154475	125154475	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:125154475G>A	uc004bmg.1	+	10	1587	c.1452G>A	c.(1450-1452)aaG>aaA	p.K484K	PTGS1_uc011lys.1_Silent_p.K422K|PTGS1_uc010mwb.1_Silent_p.K338K|PTGS1_uc004bmf.1_Silent_p.K447K|PTGS1_uc004bmh.1_Silent_p.K375K|PTGS1_uc011lyt.1_Silent_p.K375K	NM_000962	NP_000953	P23219	PGH1_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) (PTGS1), transcript variant 1, mRNA.	484					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	Golgi apparatus|endoplasmic reticulum membrane|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)|gamma-Homolinolenic acid(DB00154)	TAGGAGAGAAGGAGATGGCAG	0.488000														13			10		0	0	0.006214	0	0
FCGR2B	2213	broad.mit.edu	37	1	161645091	161645091	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:161645091C>T	uc001gaz.2	+	5	932	c.805C>T	c.(805-807)Cct>Tct	p.P269S	FCGR2B_uc001gay.2_Missense_Mutation_p.P268S|FCGR2B_uc001gba.2_Intron|FCGR2B_uc009wun.2_Missense_Mutation_p.P262S|FCGR2B_uc001gbb.2_Intron	NM_004001	NP_003992	P31994	FCG2B_HUMAN	Homo sapiens Fc fragment of IgG, low affinity IIb, receptor (CD32) (FCGR2B), transcript variant 1, mRNA.	269					immune response|interspecies interaction between organisms|regulation of immune response	integral to membrane|plasma membrane	IgG binding|receptor activity					all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGAGACCCTCCCTGAGAAACC	0.597000			T	?	ALL									5			18		0	0	0.002299	0	0
RGS5	8490	broad.mit.edu	37	1	163122409	163122409	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:163122409G>A	uc001gcn.3	-	3	653	c.315C>T	c.(313-315)tcC>tcT	p.S105S	RGS5_uc021pdu.1_5'UTR|RGS5_uc021pdt.1_Silent_p.S105S|RGS5_uc009wvb.3_5'UTR	NM_003617	NP_003608	O15539	RGS5_HUMAN	Homo sapiens regulator of G-protein signaling 5 (RGS5), transcript variant 1, mRNA.	105	RGS.				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.S105S(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20			LUSC - Lung squamous cell carcinoma(543;0.187)			TCTTGGCAGGGGACTTGATCT	0.448000														86			25		0	0	0.005443	0	0
CGNL1	84952	broad.mit.edu	37	15	57835965	57835965	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:57835965C>T	uc010bfw.3	+	15	3556	c.3363C>T	c.(3361-3363)tcC>tcT	p.S1121S	CGNL1_uc002aeg.3_Silent_p.S1121S	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	1121						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		ACAAGATTTCCCTGGAGAGGC	0.567000														1			27		0	0	0.007291	0	0
LHCGR	3973	broad.mit.edu	37	2	48915511	48915511	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:48915511G>A	uc002rwu.4	-	10	1495	c.1425C>T	c.(1423-1425)gaC>gaT	p.D475D	STON1-GTF2A1L_uc021vhf.1_Intron	NM_000233	NP_000224	P22888	LSHR_HUMAN	Homo sapiens luteinizing hormone/choriogonadotropin receptor (LHCGR), mRNA.	475					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	GCAGCTTTTGGTCCAGGTGAA	0.448000														26			15		0	0	0.002450	0	0
SLC9C1	285335	broad.mit.edu	37	3	111887837	111887837	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:111887837C>T	uc003dyu.3	-	24	3346	c.3124G>A	c.(3124-3126)Gat>Aat	p.D1042N	SLC9C1_uc011bhu.2_Missense_Mutation_p.D305N|SLC9C1_uc010hqc.3_Missense_Mutation_p.D994N	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.	1042					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										TCATAAATATCAGTTTTGGTA	0.303000														12			19		0	0	0.007413	0	0
RCN3	57333	broad.mit.edu	37	19	50045834	50045834	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:50045834G>A	uc002poj.3	+	5	1151	c.704G>A	c.(703-705)gGg>gAg	p.G235E		NM_020650	NP_065701	Q96D15	RCN3_HUMAN	Homo sapiens reticulocalbin 3, EF-hand calcium binding domain (RCN3), mRNA.	235	EF-hand 4.					endoplasmic reticulum lumen	calcium ion binding|protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)		GCCGAGCCTGGGGAGGAGGAG	0.672000														12			7		0	0	0.004482	0	0
KIAA1967	57805	broad.mit.edu	37	8	22474992	22474992	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:22474992C>T	uc003xch.3	+	14	2154	c.1905C>T	c.(1903-1905)ccC>ccT	p.P635P	KIAA1967_uc003xci.3_Silent_p.P635P|KIAA1967_uc003xcj.1_Silent_p.P304P	NM_021174	NP_066997	Q8N163	K1967_HUMAN	Homo sapiens KIAA1967 (KIAA1967), transcript variant 1, mRNA.	635					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		AAGAAAAACCCCGGGGCGAGG	0.532000														3			22		0	0	0.001882	0	0
CYP4F8	11283	broad.mit.edu	37	19	15734019	15734019	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:15734019C>T	uc002nbi.3	+	7	813	c.749C>T	c.(748-750)cCc>cTc	p.P250L	CYP4F8_uc010xoj.2_Missense_Mutation_p.P63L	NM_007253	NP_009184	P98187	CP4F8_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 8 (CYP4F8), mRNA.	251					prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						TTCCTCACTCCCTGTGGACGG	0.557000														39			23		0	0	0.005443	0	0
PTPN13	5783	broad.mit.edu	37	4	87693939	87693939	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:87693939C>T	uc003hpz.3	+	31	5657	c.5177C>T	c.(5176-5178)tCc>tTc	p.S1726F	PTPN13_uc003hpy.3_Missense_Mutation_p.S1731F|PTPN13_uc003hqa.3_Missense_Mutation_p.S1707F|PTPN13_uc003hqb.3_Missense_Mutation_p.S1535F|PTPN13_uc003hqc.1_Missense_Mutation_p.S92F	NM_080683	NP_542414	Q12923	PTN13_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) (PTPN13), transcript variant 1, mRNA.	1726						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AGTAATCCTTCCCCTCTACCA	0.368000														46			59		0	0	0.003610	0	0
HIST1H3G	8355	broad.mit.edu	37	6	26271468	26271468	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:26271468G>A	uc003nhi.3	-	0	145	c.145C>T	c.(145-147)Ctg>Ttg	p.L49L	BC079832_uc003nhj.3_5'Flank|HIST1H2BI_uc003nhk.3_5'Flank	NM_003534	NP_066298	P68431	H31_HUMAN	Homo sapiens histone cluster 1, H3g (HIST1H3G), mRNA.	49					S phase|blood coagulation|nucleosome assembly|regulation of gene silencing	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						ATCTCGCGCAGAGCCACGGTG	0.627000														16			20		0	0	0.007413	0	0
PF4V1	5197	broad.mit.edu	37	4	74719088	74719088	+	Silent	SNP	C	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:74719088C>A	uc003hhg.1	+	0	76	c.9C>A	c.(7-9)tcC>tcA	p.S3S		NM_002620	NP_002611	P10720	PF4V_HUMAN	Homo sapiens platelet factor 4 variant 1 (PF4V1), mRNA.	3					immune response	extracellular region	chemokine activity|heparin binding			endometrium(1)|liver(2)	3	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			ACATGAGCTCCGCAGCCAGGT	0.642000														11			17		1.01871e-10	1.41819e-10	0.001216	1	0
SPTA1	6708	broad.mit.edu	37	1	158605765	158605765	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:158605765G>A	uc001fst.1	-	37	5569	c.5370C>T	c.(5368-5370)atC>atT	p.I1790I		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1790					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)					GCCGCAACTGGATCTCCTCTT	0.527000														38			65		0	0	0.003610	0	0
REEP1	65055	broad.mit.edu	37	2	86479172	86479172	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:86479172G>A	uc021vke.1	-	4	353	c.346C>T	c.(346-348)Caa>Taa	p.Q116*	REEP1_uc002srh.4_Nonsense_Mutation_p.Q109*|REEP1_uc010yth.2_Nonsense_Mutation_p.Q82*|REEP1_uc010yti.2_Intron|REEP1_uc010ytg.2_Nonsense_Mutation_p.Q88*	NM_001164730	NP_001158202	Q9H902	REEP1_HUMAN	Homo sapiens receptor accessory protein 1 (REEP1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	109					cell death|protein insertion into membrane	integral to membrane|mitochondrial membrane	olfactory receptor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13						TCTTTTGCTTGGACCAGACAA	0.507000														45			43		0	0	0.002222	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883230	228883230	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:228883230C>T	uc002vpq.2	-	6	2387	c.2340G>A	c.(2338-2340)acG>acA	p.T780T	SPHKAP_uc002vpp.2_Silent_p.T780T|SPHKAP_uc010zlx.1_Silent_p.T780T	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	780						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)		TGACAAGACTCGTGTTGTGTG	0.502000														39			62		0	0	0.003610	0	0
OLFM3	118427	broad.mit.edu	37	1	102296243	102296243	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:102296243C>T	uc001duf.2	-	2	488	c.417G>A	c.(415-417)atG>atA	p.M139I	OLFM3_uc001dug.2_Missense_Mutation_p.M119I|OLFM3_uc001duh.2_Non-coding_Transcript|OLFM3_uc001dui.2_Non-coding_Transcript|OLFM3_uc001duj.2_Missense_Mutation_p.M44I|OLFM3_uc001due.2_Non-coding_Transcript	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN	Homo sapiens olfactomedin 3 (OLFM3), mRNA.	139						extracellular region		p.P138P(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		AATGCTTGGTCATAAGTGTCT	0.408000														96			32		0	0	0.003755	0	0
DSCAM	1826	broad.mit.edu	37	21	41384998	41384998	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr21:41384998C>T	uc002yyq.1	-	32	6454	c.6002G>A	c.(6001-6003)gGa>gAa	p.G2001E	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	2001				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).	cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AGGATTGTTTCCTTTCAAATG	0.478000														18			17		0	0	0.001523	0	0
CD36	948	broad.mit.edu	37	7	80299284	80299284	+	Missense_Mutation	SNP	C	T	T	rs145908803	byFrequency	TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:80299284C>T	uc003uhc.3	+	11	1448	c.764C>T	c.(763-765)cCa>cTa	p.P255L	CD36_uc011kgv.2_Missense_Mutation_p.P179L|CD36_uc003uhd.4_Missense_Mutation_p.P255L|CD36_uc003uhe.4_Missense_Mutation_p.P255L|CD36_uc003uhf.4_Missense_Mutation_p.P255L|CD36_uc003uhg.4_Missense_Mutation_p.P255L|CD36_uc003uhh.4_Missense_Mutation_p.P255L|CD36_uc022agu.1_Intron|CD36_uc022agv.1_Missense_Mutation_p.P195L	NM_001127444	NP_001120916	P16671	CD36_HUMAN	Homo sapiens CD36 molecule (thrombospondin receptor) (CD36), transcript variant 5, mRNA.	255					cGMP-mediated signaling|cell adhesion|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						GCCTCATTTCCACCTTTTGTT	0.388000														49			36		0	0	0.002852	0	0
LY75-CD302	100526664	broad.mit.edu	37	2	160735848	160735848	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:160735848C>T	uc002ubb.4	-	8	1511	c.1437G>A	c.(1435-1437)gaG>gaA	p.E479E	LY75-CD302_uc010fos.3_Silent_p.E479E|LY75-CD302_uc002ubc.4_Silent_p.E479E|LY75-CD302_uc010fot.2_Silent_p.E479E	NM_001198759	NP_001185688	O60449	LY75_HUMAN	Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA.	479	C-type lectin 2.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding										ATTTTAGTTTCTCCTCACATG	0.373000														20			23		0	0	0.003954	0	0
CEP78	84131	broad.mit.edu	37	9	80881578	80881579	+	Missense_Mutation	DNP	CC	GT	GT			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:80881578_80881579CC>GT	uc004aky.4	+	15	2345_2346	c.2069_2070CC>GT	c.(2068-2070)tcc>tGT	p.S690C	CEP78_uc004akx.2_Missense_Mutation_p.S673C|CEP78_uc010mpp.3_Missense_Mutation_p.S674C|CEP78_uc004akz.1_Missense_Mutation_p.S161C	NM_001098802	NP_001092272	Q5JTW2	CEP78_HUMAN	Homo sapiens centrosomal protein 78kDa (CEP78), transcript variant 1, mRNA.	673					G2/M transition of mitotic cell cycle	centrosome|cytosol				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						GAGGAGTTGTCCAGAAATAGCA	0.426000														3			10		0	0	0.004672	0	0
MDN1	23195	broad.mit.edu	37	6	90394612	90394612	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:90394612G>A	uc003pnn.1	-	70	11928	c.11812C>T	c.(11812-11814)Cta>Tta	p.L3938L		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	3938					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCTTTTTCTAGGGGGGAACGA	0.393000														24			16		0	0	0.006122	0	0
POLK	51426	broad.mit.edu	37	5	74865175	74865175	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:74865175T>C	uc003kdw.3	+	3	362	c.266T>C	c.(265-267)tTt>tCt	p.F89S	POLK_uc003kdx.3_Non-coding_Transcript|POLK_uc003kdy.3_Non-coding_Transcript|POLK_uc003kdz.2_Missense_Mutation_p.F89S|POLK_uc003kea.3_Missense_Mutation_p.F89S|POLK_uc003keb.3_Missense_Mutation_p.F89S|POLK_uc010izq.3_Missense_Mutation_p.F89S|POLK_uc003kec.3_5'UTR|POLK_uc010izr.3_Non-coding_Transcript|POLK_uc010izs.3_Non-coding_Transcript|POLK_uc003ked.3_5'UTR|POLK_uc003kee.3_Missense_Mutation_p.F89S	NM_016218	NP_057302	Q9UBT6	POLK_HUMAN	Homo sapiens polymerase (DNA directed) kappa (POLK), mRNA.	89					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	DNA-directed DNA polymerase activity|damaged DNA binding|metal ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		GTTGACAGATTTGCAATGGAA	0.313000								DNA polymerases (catalytic subunits)						10			8		0	0	0.006214	0	0
CLVS1	157807	broad.mit.edu	37	8	62212441	62212441	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:62212441G>A	uc003xuh.3	+	1	379	c.55G>A	c.(55-57)Gat>Aat	p.D19N	CLVS1_uc003xug.2_Missense_Mutation_p.D19N|CLVS1_uc003xui.3_Intron	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	Homo sapiens clavesin 1 (CLVS1), mRNA.	19					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TTGGAACGGAGATTTGGCCAA	0.448000														13			8		0	0	0.000673	0	0
RNMT	8731	broad.mit.edu	37	18	13731719	13731719	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:13731719A>C	uc002ksk.1	+	1	270	c.203A>C	c.(202-204)aAg>aCg	p.K68T	RNMT_uc002ksl.1_Missense_Mutation_p.K68T|RNMT_uc002ksm.1_Missense_Mutation_p.K68T|RNMT_uc010dlk.2_Missense_Mutation_p.K68T|RNMT_uc010xae.1_Intron	NM_003799	NP_003790	O43148	MCES_HUMAN	Homo sapiens RNA (guanine-7-) methyltransferase (RNMT), mRNA.	68					mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	RNA binding|mRNA (guanine-N7-)-methyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						GATCTTGTAAAGGAAAGTTCT	0.408000														36			66		0	0	0.003610	0	0
ODF3L2	284451	broad.mit.edu	37	19	474625	474625	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:474625C>T	uc002lor.3	-	0	359	c.123G>A	c.(121-123)gaG>gaA	p.E41E	ODF3L2_uc010drp.3_Silent_p.E41E	NM_182577	NP_872383	Q3SX64	OD3L2_HUMAN	Homo sapiens outer dense fiber of sperm tails 3-like 2 (ODF3L2), mRNA.	41										large_intestine(1)|lung(2)	3						ACGCACCGTTCTCCAGGGTGG	0.677000														15			9		0	0	0.000673	0	0
TMIGD2	126259	broad.mit.edu	37	19	4292703	4292704	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:4292703_4292704GG>AA	uc002lzx.2	-	4	787_788	c.741_742CC>TT	c.(739-744)tgcccc>tgTTcc	p.P248S	TMIGD2_uc021umz.1_Missense_Mutation_p.A131V|TMIGD2_uc021una.1_Missense_Mutation_p.A79V|TMIGD2_uc010dtv.2_Missense_Mutation_p.P244S	NM_144615	NP_653216	Q96BF3	TMIG2_HUMAN	Homo sapiens transmembrane and immunoglobulin domain containing 2 (TMIGD2), transcript variant 1, mRNA.	248	Pro-rich.					integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		ctggggctggggcagggtctcg	0.673000														32			22		0	0	0.004672	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138418995	138418995	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:138418995C>T	uc003vuf.3	-	14	1815	c.1577G>A	c.(1576-1578)tGg>tAg	p.W526*	ATP6V0A4_uc003vug.3_Nonsense_Mutation_p.W526*|ATP6V0A4_uc003vuh.3_Nonsense_Mutation_p.W526*	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA.	526					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AGCCAAGTTCCAAATCTGGAT	0.443000														20			15		0	0	0.004990	0	0
SNRPA	6626	broad.mit.edu	37	19	41269566	41269566	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:41269566C>T	uc002ooz.3	+	4	1230	c.675C>T	c.(673-675)tcC>tcT	p.S225S		NM_004596	NP_004587	P09012	SNRPA_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptide A (SNRPA), mRNA.	225	RRM 2.					nucleoplasm|spliceosomal complex	RNA binding|nucleotide binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TCATGCTGTCCATGCTTTTCA	0.567000														54			47		0	0	0.003610	0	0
VEZT	55591	broad.mit.edu	37	12	95676127	95676127	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:95676127C>T	uc001tdz.2	+	7	1140	c.1035C>T	c.(1033-1035)ttC>ttT	p.F345F	VEZT_uc001tds.3_Silent_p.F297F|VEZT_uc001tdv.3_Silent_p.F318F|VEZT_uc009ztb.2_Non-coding_Transcript|VEZT_uc009ztc.1_5'UTR|VEZT_uc001tdy.2_Non-coding_Transcript	NM_017599	NP_060069	Q9HBM0	VEZA_HUMAN	Homo sapiens vezatin, adherens junctions transmembrane protein (VEZT), transcript variant 1, mRNA.	345						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						GTTCAGAGTTCTTCAGACGGT	0.403000														24			16		0	0	0.004007	0	0
ARNTL2	56938	broad.mit.edu	37	12	27554207	27554207	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:27554207G>A	uc001rht.2	+	10	1397	c.1178G>A	c.(1177-1179)gGa>gAa	p.G393E	ARNTL2_uc001rhu.2_Missense_Mutation_p.G379E|ARNTL2_uc001rhv.2_Missense_Mutation_p.G345E|ARNTL2_uc001rhw.3_Missense_Mutation_p.G356E|ARNTL2_uc010sjp.2_Missense_Mutation_p.G356E|ARNTL2_uc009zji.2_Missense_Mutation_p.G359E|BC043511_uc001rhx.3_Intron	NM_020183	NP_064568	Q8WYA1	BMAL2_HUMAN	Homo sapiens aryl hydrocarbon receptor nuclear translocator-like 2 (ARNTL2), transcript variant 1, mRNA.	393	PAS 2.				circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					GCGATTTTAGGATATCTGCCT	0.408000														32			10		0	0	0.000673	0	0
SPATA16	83893	broad.mit.edu	37	3	172834997	172834997	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:172834997C>T	uc003fin.4	-	1	709	c.525G>A	c.(523-525)tgG>tgA	p.W175*		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	Homo sapiens spermatogenesis associated 16 (SPATA16), mRNA.	175					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			CTACCTGAAGCCATTTGTCAA	0.448000														26			42		0	0	0.006230	0	0
MYH2	4620	broad.mit.edu	37	17	10427854	10427854	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:10427854C>T	uc010coi.3	-	34	5232	c.5104G>A	c.(5104-5106)Gag>Aag	p.E1702K	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.E1702K|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.	1702					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.E1702Q(2)		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						CTGCTCCTCTCTGTCTGTTCC	0.577000														22			36		0	0	0.006230	0	0
SYT15	83849	broad.mit.edu	37	10	46967612	46967612	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:46967612C>T	uc001jea.3	-	3	618	c.465G>A	c.(463-465)gtG>gtA	p.V155V	SYT15_uc001jdz.2_Silent_p.V155V|SYT15_uc001jeb.3_Silent_p.V33V|SYT15_uc010qfp.1_Non-coding_Transcript	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN	Homo sapiens synaptotagmin XV (SYT15), transcript variant a, mRNA.	155	C2 1.					integral to membrane|plasma membrane		p.P155S(1)		cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						GCTCATATTCCACCGAGAACC	0.627000														43			18		0	0	0.007413	0	0
WDR72	256764	broad.mit.edu	37	15	54008862	54008862	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:54008862A>C	uc002acj.2	-	3	323	c.281T>G	c.(280-282)gTc>gGc	p.V94G	WDR72_uc010bfi.1_Missense_Mutation_p.V94G	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	94										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TCCATTGGTGACATTCCAAAC	0.423000														38			15		0	0	0.006122	0	0
PCDHB13	56123	broad.mit.edu	37	5	140594580	140594580	+	Silent	SNP	C	T	T	rs141257469	byFrequency	TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:140594580C>T	uc003lja.1	+	0	1072	c.885C>T	c.(883-885)atC>atT	p.I295I		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	Homo sapiens protocadherin beta 13 (PCDHB13), mRNA.	295	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTTTAAGATCAATCCCTTGA	0.398000														47			51		0	0	0.003610	0	0
NADSYN1	55191	broad.mit.edu	37	11	71166155	71166155	+	Splice_Site	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:71166155G>A	uc001oqn.3	+	2	212	c.86_splice	c.e2-1	p.S29_splice	NADSYN1_uc001oqm.3_Splice_Site|NADSYN1_uc001oqo.3_5'Flank	NM_018161	NP_060631	Q6IA69	NADE_HUMAN	Homo sapiens NAD synthetase 1 (NADSYN1), mRNA.	29	CN hydrolase.				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|NAD+ synthase (glutamine-hydrolyzing) activity|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TGTACTTACAGGTATTGAAAT	0.423000														29			21		0	0	0.001882	0	0
TRAV12-1	28674	broad.mit.edu	37	14	22309811	22309811	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:22309811A>C	uc001wbx.2	+	1	296	c.195A>C	c.(193-195)gaA>gaC	p.E65D	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron					Homo sapiens mRNA for T cell receptor alpha variable 12, partial cds, clone: SEB 232.																		GCAGGAAAGAACCTAAGTTGC	0.463000														28			19		0	0	0.001216	0	0
E4F1	1877	broad.mit.edu	37	16	2285285	2285285	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:2285285C>T	uc002cpm.3	+	13	2115	c.2067C>T	c.(2065-2067)atC>atT	p.I689I	E4F1_uc010bsi.3_3'UTR|E4F1_uc010bsj.3_Silent_p.I512I|DNASE1L2_uc002cpn.3_5'Flank|DNASE1L2_uc002cpo.3_5'Flank|DNASE1L2_uc002cpp.3_5'Flank|DNASE1L2_uc002cpq.3_5'Flank	NM_004424	NP_004415	Q66K89	E4F1_HUMAN	Homo sapiens E4F transcription factor 1 (E4F1), mRNA.	689					cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						ACCAGATCATCGTGCAGAACG	0.662000														34			32		0	0	0.003755	0	0
TFF2	7032	broad.mit.edu	37	21	43767736	43767736	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr21:43767736C>T	uc002zaw.3	-	2	377	c.235G>A	c.(235-237)Gat>Aat	p.D79N		NM_005423	NP_005414	Q03403	TFF2_HUMAN	Homo sapiens trefoil factor 2 (TFF2), mRNA.	79	P-type 2.				digestion	extracellular region				large_intestine(1)|pancreas(1)|urinary_tract(1)	3						ACGCACTGATCCGACTCTGCC	0.602000														7			15		0	0	0.004990	0	0
THSD7B	80731	broad.mit.edu	37	2	137813998	137813998	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:137813998G>A	uc002tva.1	+	1	55	c.55G>A	c.(55-57)Gga>Aga	p.G19R	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_5'UTR	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AGGTCCGTGGGGAAGGTGTAC	0.473000														13			19		0	0	0.002299	0	0
GPR98	84059	broad.mit.edu	37	5	89921010	89921010	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:89921010C>T	uc003kju.3	+	5	718	c.622C>T	c.(622-624)Ccc>Tcc	p.P208S	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	208	Calx-beta 2.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TATCACCTTTCCCCCTGGCAG	0.428000														11			10		0	0	0.000978	0	0
TBC1D9	23158	broad.mit.edu	37	4	141600827	141600827	+	Silent	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:141600827A>G	uc010ioj.3	-	3	803	c.531T>C	c.(529-531)ggT>ggC	p.G177G		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	177	GRAM 1.					intracellular	Rab GTPase activator activity|calcium ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				GGTACATCCAACCCTGACGGG	0.428000														21			19		0	0	0.001882	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882108	228882108	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:228882108C>T	uc002vpq.2	-	6	3509	c.3462G>A	c.(3460-3462)aaG>aaA	p.K1154K	SPHKAP_uc002vpp.2_Silent_p.K1154K|SPHKAP_uc010zlx.1_Silent_p.K1154K	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1154						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)		TGCTGGCGTTCTTGCCAGCAT	0.517000														22			23		0	0	0.007291	0	0
LILRP2	79166	broad.mit.edu	37	19	55222050	55222050	+	RNA	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:55222050C>T	uc002qgs.1	+	0		c.2450C>T			LILRP2_uc002qgt.1_Non-coding_Transcript					Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA.																		ATCAGAGCACCAAGCTCAGCA	0.592000														21			28		0	0	0.002096	0	0
NCR2	9436	broad.mit.edu	37	6	41318469	41318469	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:41318469A>T	uc003oqh.2	+	4	785	c.698A>T	c.(697-699)aAa>aTa	p.K233I	NCR2_uc003oqj.2_3'UTR|NCR2_uc003oqi.2_3'UTR	NM_004828	NP_004819	O95944	NCTR2_HUMAN	Homo sapiens natural cytotoxicity triggering receptor 2 (NCR2), transcript variant 1, mRNA.	233					cellular defense response	integral to plasma membrane	transmembrane receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					GATACCCAAAAAGCCACCTGC	0.507000														40			25		0	0	0.003330	0	0
PACSIN3	29763	broad.mit.edu	37	11	47202098	47202098	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:47202098G>A	uc001ndw.3	-	4	698	c.355C>T	c.(355-357)Cac>Tac	p.H119Y	PACSIN3_uc001ndy.3_Missense_Mutation_p.H119Y|PACSIN3_uc001ndx.3_Missense_Mutation_p.H119Y	NM_001184975	NP_057307	Q9UKS6	PACN3_HUMAN	Homo sapiens protein kinase C and casein kinase substrate in neurons 3 (PACSIN3), transcript variant 1, mRNA.	119					endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis	cytoplasm|plasma membrane	cytoskeletal protein binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						ACAGGCCGGTGGAAAGCCCCC	0.721000														25			13		0	0	0.001855	0	0
LRP1B	53353	broad.mit.edu	37	2	141762937	141762937	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:141762937G>A	uc002tvj.1	-	14	3442	c.2470C>T	c.(2470-2472)Caa>Taa	p.Q824*	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	824	EGF-like 3.				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)		TCCAAAAGTTGATTATCGGCA	0.438000										TSP Lung(27;0.18)				3			5		0	0	0.000602	0	0
ZNF665	79788	broad.mit.edu	37	19	53678753	53678753	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:53678753C>T	uc010eqm.1	-	2	187	c.87G>A	c.(85-87)caG>caA	p.Q29Q		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	Homo sapiens zinc finger protein 665 (ZNF665), mRNA.	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q29H(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		ACAAAGTCTTCTGAGCAGGGT	0.458000														109			20		0	0	0.001523	0	0
CST1	1469	broad.mit.edu	37	20	23728483	23728483	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:23728483G>A	uc002wtp.3	-	2	467	c.396C>T	c.(394-396)tcC>tcT	p.S132S		NM_001898	NP_001889	P01037	CYTN_HUMAN	Homo sapiens cystatin SN (CST1), mRNA.	132						extracellular region	cysteine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					ATTTCACCAGGGACCTTCTGT	0.542000														20			16		0	0	0.006122	0	0
PRPS1L1	221823	broad.mit.edu	37	7	18066979	18066979	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:18066979C>T	uc003stz.3	-	0	508	c.427G>A	c.(427-429)Gac>Aac	p.D143N		NM_175886	NP_787082	P21108	PRPS3_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase 1-like 1 (PRPS1L1), mRNA.	143					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					TACAAGTTGTCTACTGGGATA	0.448000														0			53		0	0	0.003610	0	0
IL4R	3566	broad.mit.edu	37	16	27374756	27374756	+	Missense_Mutation	SNP	C	T	T	rs141519721		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:27374756C>T	uc002don.3	+	10	2325	c.2083C>T	c.(2083-2085)Ccc>Tcc	p.P695S	IL4R_uc002dop.4_Missense_Mutation_p.P680S|IL4R_uc010bxy.3_Missense_Mutation_p.P695S|IL4R_uc002doo.3_Missense_Mutation_p.P535S	NM_000418	NP_000409	P24394	IL4RA_HUMAN	Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA.	695					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GCCCCCACTTCCCCAGGAGCA	0.622000														29			10		0	0	0.006214	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94650546	94650546	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:94650546C>T	uc001dqj.4	-	17	2360	c.1991G>A	c.(1990-1992)gGa>gAa	p.G664E	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dqk.3_Missense_Mutation_p.G230E	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	664					Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		GTGTATTTTTCCTGGAAGTTT	0.338000														38			6		0	0	0.001984	0	0
MORN5	254956	broad.mit.edu	37	9	124929150	124929150	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:124929150G>C	uc011lyn.2	+	1	213	c.151G>C	c.(151-153)Gga>Cga	p.G51R	MORN5_uc011lyo.1_Missense_Mutation_p.G51R|MORN5_uc004blw.2_Missense_Mutation_p.G51R	NM_198469	NP_940871	Q5VZ52	MORN5_HUMAN	Homo sapiens MORN repeat containing 5 (MORN5), mRNA.	51										endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	9						CTTCCCCAGCGGAAGCCAATA	0.537000														6			3		0	0	0.000248	0	0
OR4M1	441670	broad.mit.edu	37	14	20248501	20248501	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:20248501C>T	uc010tku.2	+	0	20	c.20C>T	c.(19-21)aCc>aTc	p.T7I		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCAAATTACACCAAGGTGACA	0.333000														23			21		0	0	0.001882	0	0
LBR	3930	broad.mit.edu	37	1	225611708	225611708	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:225611708C>T	uc001hoy.3	-	1	244	c.70G>A	c.(70-72)Gaa>Aaa	p.E24K	LBR_uc001hoz.3_Missense_Mutation_p.E24K	NM_002296	NP_919424	Q14739	LBR_HUMAN	Homo sapiens lamin B receptor (LBR), transcript variant 1, mRNA.	24	Nucleoplasmic (Potential).				cholesterol biosynthetic process	integral to nuclear inner membrane	DNA binding|chromo shadow domain binding|delta14-sterol reductase activity|lamin binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		ATTTCTACTTCATAATAAAGT	0.383000														284			66		0	0	0.003610	0	0
CASD1	64921	broad.mit.edu	37	7	94164815	94164815	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:94164815C>T	uc003uni.4	+	7	1050	c.823C>T	c.(823-825)Cct>Tct	p.P275S	CASD1_uc003unh.2_Intron|CASD1_uc003unj.4_Missense_Mutation_p.P275S	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	Homo sapiens CAS1 domain containing 1 (CASD1), mRNA.	275						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CTTACATCTTCCTGAATCGAG	0.328000														32			21		0	0	0.003330	0	0
MYH10	4628	broad.mit.edu	37	17	8424604	8424604	+	Splice_Site	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:8424604C>T	uc002glm.3	-	18	2054	c.1958_splice	c.e18-1	p.V653_splice	MYH10_uc002gll.3_Splice_Site_p.V622_splice|MYH10_uc010cnx.3_Splice_Site_p.V631_splice	NM_005964	NP_005955	P35580	MYH10_HUMAN	Homo sapiens myosin, heavy chain 10, non-muscle (MYH10), transcript variant 2, mRNA.	622	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						ATACGGTCCACTGGGGAGAAG	0.473000														34			14		0	0	0.002450	0	0
C19orf57	79173	broad.mit.edu	37	19	14000987	14000987	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:14000987G>A	uc002mxl.1	-	5	741	c.682C>T	c.(682-684)Cca>Tca	p.P228S	C19orf57_uc002mxk.1_Missense_Mutation_p.P110S	NM_024323	NP_077299	Q0VDD7	CS057_HUMAN	Homo sapiens chromosome 19 open reading frame 57 (C19orf57), mRNA.	228					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			CCGTCACCTGGAACCCTGTCT	0.612000														61			53		0	0	0.003610	0	0
TCRA	0	broad.mit.edu	37	14	22476223	22476223	+	Silent	SNP	T	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:22476223T>C	uc001wcu.4	+	1	257	c.159T>C	c.(157-159)acT>acC	p.T53T	TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc021rpn.1_Silent_p.T53T|TCRA_uc010tmm.2_Intron|TCRA_uc001wct.4_3'UTR					RecName: Full=T-cell receptor alpha chain V region HPB-MLT; Flags: Precursor; Fragment;																		GTGATACTACTTATTACTTAT	0.428000														15			15		0	0	0.004007	0	0
DSE	29940	broad.mit.edu	37	6	116756948	116756948	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:116756948G>A	uc011ebg.2	+	5	1473	c.1374G>A	c.(1372-1374)tgG>tgA	p.W458*	DSE_uc003pws.3_Nonsense_Mutation_p.W439*|DSE_uc003pwt.3_Nonsense_Mutation_p.W439*|DSE_uc003pwu.3_Nonsense_Mutation_p.W106*	NM_013352	NP_037484	Q9UL01	DSE_HUMAN	Homo sapiens dermatan sulfate epimerase (DSE), transcript variant 1, mRNA.	439					dermatan sulfate biosynthetic process	Golgi apparatus|endoplasmic reticulum|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		ACAAAGATTGGATCAAAGGAT	0.398000														8			9		0	0	0.006214	0	0
ODZ3	55714	broad.mit.edu	37	4	183601734	183601734	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:183601734T>G	uc003ivd.1	+	8	1753	c.1678T>G	c.(1678-1680)Tcc>Gcc	p.S560A	ODZ3_uc003ive.1_5'UTR	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	560	EGF-like 2.				signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		CGGGCAGTACTCCAAGGGCCG	0.552000														85			16		0	0	0.001216	0	0
ZNF768	79724	broad.mit.edu	37	16	30537210	30537211	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:30537210_30537211GG>AA	uc002dyk.4	-	1	426_427	c.250_251CC>TT	c.(250-252)ccg>TTg	p.P84L	ZNF768_uc010vex.2_Missense_Mutation_p.P53L|ZNF768_uc010vew.2_Missense_Mutation_p.P53L	NM_024671	NP_078947	Q9H5H4	ZN768_HUMAN	Homo sapiens zinc finger protein 768 (ZNF768), mRNA.	84	Pro-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						CTCAAACCCCGGGCTTTCAGGC	0.559000														29			27		0	0	0.004672	0	0
CD6	923	broad.mit.edu	37	11	60783189	60783189	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:60783189C>T	uc001nqq.3	+	8	1617	c.1392C>T	c.(1390-1392)ttC>ttT	p.F464F	CD6_uc001nqp.3_Silent_p.F464F|CD6_uc001nqs.3_Intron|CD6_uc001nqr.3_Silent_p.F432F|CD6_uc001nqt.3_Intron	NM_006725	NP_006716	P30203	CD6_HUMAN	Homo sapiens CD6 molecule (CD6), transcript variant 1, mRNA.	464				VFMLPI -> GPGPAP (in Ref. 3; CAA43306).	cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						CCCCAGTTTTCATGCTGCCCA	0.597000														35			45		0	0	0.003610	0	0
GPR158	57512	broad.mit.edu	37	10	25888112	25888112	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:25888112G>T	uc001isj.3	+	10	3617	c.3557G>T	c.(3556-3558)aGa>aTa	p.R1186I	GPR158_uc001isk.3_Missense_Mutation_p.R561I	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	1186						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G1185*(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AATGCTGGAAGAAGTGTAGCT	0.448000														17			13		1.05317e-09	1.46407e-09	0.002450	1	0
USP26	83844	broad.mit.edu	37	X	132161857	132161857	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:132161857G>A	uc011mvf.2	-	0	444	c.392C>T	c.(391-393)tCa>tTa	p.S131L	USP26_uc010nrm.1_Missense_Mutation_p.S131L	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA.	131					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TTTGTGGAATGAAGTTTTGTT	0.423000														0			7		0	0	0.003080	0	0
CAPN1	823	broad.mit.edu	37	11	64956141	64956141	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:64956141C>T	uc009yqd.2	+	9	1286	c.1089C>T	c.(1087-1089)atC>atT	p.I363I	CAPN1_uc001odf.2_Silent_p.I363I|CAPN1_uc001odg.2_Silent_p.I363I|CAPN1_uc010roa.2_Silent_p.I104I	NM_001198868	NP_001185797	P07384	CAN1_HUMAN	Homo sapiens calpain 1, (mu/I) large subunit (CAPN1), transcript variant 1, mRNA.	363	Domain III.				positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		GCCGGACCATCCGCAAATGGA	0.647000														10			8		0	0	0.003080	0	0
TTC1	7265	broad.mit.edu	37	5	159463750	159463750	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:159463750C>T	uc003lxu.3	+	3	494	c.444C>T	c.(442-444)tcC>tcT	p.S148S		NM_003314	NP_003305	Q99614	TTC1_HUMAN	Homo sapiens tetratricopeptide repeat domain 1 (TTC1), mRNA.	148					protein folding		unfolded protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1)	12	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)		TGTGCCCATCCTGCTTCCAAA	0.378000														37			20		0	0	0.004656	0	0
LHCGR	3973	broad.mit.edu	37	2	48936151	48936151	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:48936151C>T	uc002rwu.4	-	7	686	c.616G>A	c.(616-618)Gaa>Aaa	p.E206K	STON1-GTF2A1L_uc021vhf.1_Intron|LHCGR_uc002rwv.2_Non-coding_Transcript	NM_000233	NP_000224	P22888	LSHR_HUMAN	Homo sapiens luteinizing hormone/choriogonadotropin receptor (LHCGR), mRNA.	206					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	p.E206K(2)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	TGTACGTTTTCCTTTAGCTCC	0.507000														41			41		0	0	0.001951	0	0
NYAP2	57624	broad.mit.edu	37	2	226447249	226447249	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:226447249G>A	uc002voe.2	+	3	1291	c.1116G>A	c.(1114-1116)atG>atA	p.M372I	NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_Missense_Mutation_p.M142I	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	372	Pro-rich.																TGTCTTACATGAAACAGCCAG	0.667000														2			4		0	0	0.000248	0	0
CYP7B1	9420	broad.mit.edu	37	8	65517283	65517283	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:65517283G>A	uc003xvj.2	-	4	1393	c.1189C>T	c.(1189-1191)Cct>Tct	p.P397S		NM_004820	NP_004811	O75881	CP7B1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily B, polypeptide 1 (CYP7B1), mRNA.	397					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				AGGACTGGAGGAAAGATGGCT	0.463000														32			16		0	0	0.001216	0	0
OTOP2	92736	broad.mit.edu	37	17	72926589	72926589	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:72926589G>A	uc010wrp.2	+	5	951	c.859G>A	c.(859-861)Gag>Aag	p.E287K		NM_178160	NP_835454	Q7RTS6	OTOP2_HUMAN	Homo sapiens otopetrin 2 (OTOP2), mRNA.	287						integral to membrane				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					CCTCTTCCGGGAGACCTTTTT	0.612000														78			11		0	0	0.000978	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47567936	47567936	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:47567936T>A	uc002xtx.4	+	3	505	c.353T>A	c.(352-354)aTt>aAt	p.I118N		NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.	118					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	Golgi membrane|cytosol	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			ATCGACAGAATTGTTGAAACC	0.463000														28			17		0	0	0.006122	0	0
DLGAP1	9229	broad.mit.edu	37	18	3534540	3534540	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:3534540C>T	uc002kmf.3	-	9	2658	c.2131G>A	c.(2131-2133)Gaa>Aaa	p.E711K	DLGAP1_uc010wyz.2_Missense_Mutation_p.E711K|DLGAP1_uc010dkn.3_Missense_Mutation_p.E419K|DLGAP1_uc002kme.2_Missense_Mutation_p.E409K|DLGAP1_uc010wyw.2_Missense_Mutation_p.E417K|DLGAP1_uc010wyx.2_Missense_Mutation_p.E433K|DLGAP1_uc010wyy.2_Missense_Mutation_p.E395K|DLGAP1_uc002kmg.3_Missense_Mutation_p.E409K	NM_004746	NP_004737	O14490	DLGP1_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 1 (DLGAP1), transcript variant 1, mRNA.	711					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				AGAGAATTTTCCAGATTATCA	0.502000														9			17		0	0	0.004990	0	0
FRAS1	80144	broad.mit.edu	37	4	79362352	79362352	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:79362352C>T	uc003hlb.2	+	40	6006	c.5566C>T	c.(5566-5568)Cat>Tat	p.H1856Y	FRAS1_uc003hkw.3_Missense_Mutation_p.H1856Y|FRAS1_uc010ijj.2_Missense_Mutation_p.H276Y	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	1855					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CTCATTTCACCATTTTTTTGC	0.418000														11			18		0	0	0.004990	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37414911	37414911	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:37414911C>T	uc021ppc.1	+	0	127	c.28C>T	c.(28-30)Ctt>Ttt	p.L10F	ANKRD30A_uc001iza.1_Missense_Mutation_p.L10F	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	66						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GACCATCAACCTTAATATACA	0.582000														29			22		0	0	0.006320	0	0
GFRA3	2676	broad.mit.edu	37	5	137593381	137593381	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:137593381C>T	uc003lcn.3	-	3	872	c.732G>A	c.(730-732)gtG>gtA	p.V244V	GFRA3_uc003lco.3_Silent_p.V213V	NM_001496	NP_001487	O60609	GFRA3_HUMAN	Homo sapiens GDNF family receptor alpha 3 (GFRA3), mRNA.	244					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			AGTTGGGGGCCACAGGCGGCA	0.701000														21			20		0	0	0.002299	0	0
ZNF718	255403	broad.mit.edu	37	4	59386	59386	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:59386C>T	uc003fzv.1	+	1	223	c.67C>T	c.(67-69)Cct>Tct	p.P23S	ZNF718_uc003fzt.4_Missense_Mutation_p.P23S|ZNF718_uc003fzu.1_Non-coding_Transcript|ZNF718_uc010iay.1_Non-coding_Transcript|ZNF718_uc011bus.1_5'UTR|ZNF718_uc011but.1_Intron	NM_182524	NP_872330	Q3SXZ3	ZN718_HUMAN	Homo sapiens zinc finger protein 595 (ZNF595), mRNA.	23	KRAB.			I -> T (in Ref. 1; AAI04028).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		ATGTCTGGACCCTGCCCAGCA	0.423000														279			42		0	0	0.002522	0	0
MYO5B	4645	broad.mit.edu	37	18	47479693	47479693	+	Silent	SNP	A	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:47479693A>T	uc002leb.2	-	13	1977	c.1689T>A	c.(1687-1689)ggT>ggA	p.G563G	MYO5B_uc021ukb.1_Silent_p.G562G	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	563	Myosin head-like.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TCTCCAGAAAACCATCAGAGA	0.493000														26			14		0	0	0.004007	0	0
RHAG	6005	broad.mit.edu	37	6	49582400	49582400	+	Splice_Site	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:49582400C>T	uc003ozk.4	-	5	869	c.807_splice	c.e5+1	p.M269_splice	RHAG_uc010jzl.3_Splice_Site_p.M269_splice|RHAG_uc010jzm.3_Splice_Site_p.M269_splice	NM_000324	NP_000315	Q02094	RHAG_HUMAN	Homo sapiens Rh-associated glycoprotein (RHAG), mRNA.	269					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					CGGCACTTACCATGTTGAGCT	0.498000														40			36		0	0	0.003610	0	0
AL117485	0	broad.mit.edu	37	22	18846095	18846096	+	RNA	DNP	GG	AA	AA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:18846095_18846096GG>AA	uc002zoe.3	+	4		c.2457_2458GG>AA			AL117485_uc002zof.3_5'Flank					Homo sapiens cDNA FLJ76361 complete cds.																		TCCATGCCTCGGCGCTCGATCT	0.624000														24			5		0	0	0.004672	0	0
RBM33	155435	broad.mit.edu	37	7	155537941	155537941	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:155537941T>G	uc010lqk.1	+	13	2992	c.2624T>G	c.(2623-2625)cTt>cGt	p.L875R	RBM33_uc011kvv.1_Missense_Mutation_p.L684R|RBM33_uc003wmg.2_5'Flank	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	Homo sapiens RNA binding motif protein 33 (RBM33), mRNA.	875							RNA binding|nucleotide binding	p.L874L(1)		breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		AACAGACTTCTTGTTAAAAAC	0.458000														10			12		0	0	0.004007	0	0
FSIP1	161835	broad.mit.edu	37	15	40068732	40068733	+	Splice_Site	DNP	CC	TT	TT			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:40068732_40068733CC>TT	uc001zki.3	-	2	212	c.-6_splice	c.e2-1			NM_152597	NP_689810	Q8NA03	FSIP1_HUMAN	Homo sapiens fibrous sheath interacting protein 1 (FSIP1), mRNA.											NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		CCATTGAAATCCTGAAACAACA	0.322000														3			37		0	0	0.004672	0	0
CSRP2BP	57325	broad.mit.edu	37	20	18163821	18163821	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:18163821C>T	uc021wbb.1	+	7	2300	c.1863C>T	c.(1861-1863)tcC>tcT	p.S621S	CSRP2BP_uc002wqk.3_Silent_p.S493S|CSRP2BP_uc010zru.2_Silent_p.S492S	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN	Homo sapiens CSRP2 binding protein (CSRP2BP), transcript variant 1, mRNA.	621					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						AGATTCGTTCCCACCTGCACA	0.507000														55			35		0	0	0.003271	0	0
DEFA4	1669	broad.mit.edu	37	8	6793615	6793615	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:6793615C>T	uc003wqu.1	-	2	272	c.221G>A	c.(220-222)cGa>cAa	p.R74Q		NM_001925	NP_001916	P12838	DEF4_HUMAN	Homo sapiens defensin, alpha 4, corticostatin (DEFA4), mRNA.	74			R -> Q (in a colorectal cancer sample; somatic mutation).		defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space		p.R74Q(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		AAGTTCTGTTCGCCGGCAGAA	0.507000														3			9		0	0	0.004482	0	0
CHCHD2	51142	broad.mit.edu	37	7	56174059	56174060	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:56174059_56174060GG>AA	uc003tsa.3	-	0	128_129	c.47_48CC>TT	c.(46-48)gcc>gTT	p.A16V	PSPH_uc003trj.3_Intron	NM_016139	NP_057223	Q9Y6H1	CHCH2_HUMAN	Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing 2 (CHCHD2), nuclear gene encoding mitochondrial protein, mRNA.	16						mitochondrion				endometrium(1)|large_intestine(1)|lung(3)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GGTCTCACCTGGCCGGAGGGGC	0.663000														6			31		0	0	0.004672	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24523950	24523950	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:24523950C>T	uc002wtw.1	+	1	850	c.217C>T	c.(217-219)Ctg>Ttg	p.L73L		NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN	Homo sapiens synapse differentiation inducing 1 (SYNDIG1), mRNA.	73					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						GATGCAGCAGCTGCTGGACCC	0.662000														26			23		0	0	0.002299	0	0
PLA2G2C	391013	broad.mit.edu	37	1	20501649	20501649	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:20501649C>T	uc009vpq.1	-	0	39	c.39G>A	c.(37-39)tcG>tcA	p.S13S		NM_001105572	NP_001099042			Homo sapiens phospholipase A2, group IIC (PLA2G2C), mRNA.											NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)	7		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.14e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.000528)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CTGCCACCACCGATGAGAAAA	0.502000														26			43		0	0	0.003610	0	0
BMP15	9210	broad.mit.edu	37	X	50659393	50659393	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:50659393G>A	uc011mnw.2	+	1	1014	c.965G>A	c.(964-966)gGa>gAa	p.G322E		NM_005448	NP_005439	O95972	BMP15_HUMAN	Homo sapiens bone morphogenetic protein 15 (BMP15), mRNA.	322					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					TACTGTAAAGGAACTTGTCTC	0.522000														2			47		0	0	0.003610	0	0
OR7E5P	219445	broad.mit.edu	37	11	55747217	55747217	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:55747217C>T	uc010riu.1	-	3	795	c.240G>A	c.(238-240)atG>atA	p.M80I						Homo sapiens olfactory receptor, family 7, subfamily E, member 5 pseudogene (OR7E5P), non-coding RNA.											breast(1)|kidney(1)|lung(5)	7						CAGTCAGGATCATGTCATCCT	0.468000														1			4		0	0	0.000602	0	0
MYO7B	4648	broad.mit.edu	37	2	128341880	128341881	+	Silent	DNP	CC	TT	TT			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:128341880_128341881CC>TT	uc002top.3	+	12	1580_1581	c.1527_1528CC>TT	c.(1525-1530)ctcctg>ctTTtg	p.509_510LL>LL		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	509	Myosin head-like.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TCATCTCCCTCCTGGACGAAGA	0.604000														34			9		0	0	0.004672	0	0
GGA2	23062	broad.mit.edu	37	16	23489758	23489759	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:23489758_23489759CC>TT	uc002dlq.3	-	12	1305_1306	c.1222_1223GG>AA	c.(1222-1224)ggt>AAt	p.G408N	GGA2_uc010bxo.2_Non-coding_Transcript	NM_015044	NP_055859	Q9UJY4	GGA2_HUMAN	Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 2 (GGA2), mRNA.	408	Unstructured hinge.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		GTTCTGAACACCACCGCCTGGC	0.545000														43			25		0	0	0.004672	0	0
TXNRD1	7296	broad.mit.edu	37	12	104742176	104742176	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:104742176C>T	uc021rcx.1	+	16	1949	c.1927C>T	c.(1927-1929)Ctc>Ttc	p.L643F	TXNRD1_uc021rcy.1_Missense_Mutation_p.L545F|TXNRD1_uc021rcz.1_Missense_Mutation_p.L493F|TXNRD1_uc021rda.1_Missense_Mutation_p.L493F|TXNRD1_uc021rdb.1_Missense_Mutation_p.L493F|TXNRD1_uc010swp.2_Missense_Mutation_p.L455F|TXNRD1_uc010swq.2_Missense_Mutation_p.L543F|TXNRD1_uc001tku.3_Non-coding_Transcript|TXNRD1_uc009zun.3_Missense_Mutation_p.L559F	NM_001093771		Q16881	TRXR1_HUMAN	Homo sapiens thioredoxin reductase 1 (TXNRD1), transcript variant 5, mRNA.	643					cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	NADP binding|electron carrier activity|flavin adenine dinucleotide binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						GGCAAGCATCCTCCAGGCTGG	0.522000														65			24		0	0	0.005443	0	0
UBE4A	9354	broad.mit.edu	37	11	118245820	118245820	+	Silent	SNP	C	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:118245820C>G	uc001psw.3	+	8	1461	c.1326C>G	c.(1324-1326)ctC>ctG	p.L442L	UBE4A_uc001psv.3_Silent_p.L449L	NM_001204077	NP_001191006	Q14139	UBE4A_HUMAN	Homo sapiens ubiquitination factor E4A (UBE4A), transcript variant 2, mRNA.	442					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		GTGCTGCTCTCCTGAAGCTAT	0.473000														20			22		0	0	0.002299	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44266225	44266225	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:44266225A>T	uc010xcy.1	-	5	1157	c.589T>A	c.(589-591)Ttt>Att	p.F197I	ST8SIA5_uc002lci.1_Missense_Mutation_p.F8I|ST8SIA5_uc002lcj.1_Missense_Mutation_p.F161I|ST8SIA5_uc010xcz.1_Missense_Mutation_p.F130I	NM_013305	NP_037437	O15466	SIA8E_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 (ST8SIA5), mRNA.	161					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						CACTTCTTAAACTGGGACCGG	0.587000														14			17		0	0	0.007413	0	0
LRRC8D	55144	broad.mit.edu	37	1	90398923	90398923	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:90398923C>T	uc021opq.1	+	0	296	c.296C>T	c.(295-297)tCc>tTc	p.S99F	LRRC8D_uc001dnm.3_Missense_Mutation_p.S99F|LRRC8D_uc001dnn.3_Missense_Mutation_p.S99F	NM_018103	NP_060573	Q7L1W4	LRC8D_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member D (LRRC8D), transcript variant 2, mRNA.	99						integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		AACGACATTTCCTTTGGGACA	0.498000														8			15		0	0	0.003163	0	0
C6orf165	154313	broad.mit.edu	37	6	88138360	88138360	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:88138360T>A	uc003plv.3	+	8	1100	c.977T>A	c.(976-978)cTt>cAt	p.L326H	C6orf165_uc003plu.2_Missense_Mutation_p.L326H|C6orf165_uc003plw.3_Missense_Mutation_p.L138H|C6orf165_uc010kbv.2_Non-coding_Transcript	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN	Homo sapiens chromosome 6 open reading frame 165 (C6orf165), mRNA.	326										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		TTCATTGCACTTTCTACTCTG	0.353000														61			64		0	0	0.003610	0	0
MYOCD	93649	broad.mit.edu	37	17	12666655	12666655	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:12666655G>A	uc002gno.2	+	13	2954	c.2655G>A	c.(2653-2655)ggG>ggA	p.G885G	MYOCD_uc002gnn.2_Silent_p.G837G|MYOCD_uc002gnq.2_Silent_p.G561G	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	837					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		ACTTTGATGGGATAATGGATG	0.473000														16			25		0	0	0.004656	0	0
JHDM1D	80853	broad.mit.edu	37	7	139801761	139801761	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:139801761G>A	uc003vvm.3	-	11	1632	c.1628C>T	c.(1627-1629)cCa>cTa	p.P543L	JHDM1D_uc010lng.3_Non-coding_Transcript	NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA.	543					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					CTCTTCCCATGGACACATCTC	0.388000														50			54		0	0	0.003610	0	0
GAPVD1	26130	broad.mit.edu	37	9	128069805	128069805	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:128069805C>T	uc004bpp.3	+	4	1390	c.1230C>T	c.(1228-1230)acC>acT	p.T410T	GAPVD1_uc004bpo.3_Silent_p.T410T|GAPVD1_uc011lzs.1_Silent_p.T410T|GAPVD1_uc004bpq.3_Silent_p.T410T|GAPVD1_uc010mwx.3_Silent_p.T410T|GAPVD1_uc004bpr.3_Silent_p.T410T|GAPVD1_uc004bps.3_Silent_p.T410T|GAPVD1_uc010mwy.1_Silent_p.T269T	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	Homo sapiens GTPase activating protein and VPS9 domains 1 (GAPVD1), mRNA.	410					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TTTATATAACCTACAGTCAGC	0.418000														12			25		0	0	0.005443	0	0
ACAP1	9744	broad.mit.edu	37	17	7251270	7251270	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:7251270G>A	uc002ggd.2	+	14	1579	c.1373G>A	c.(1372-1374)cGg>cAg	p.R458Q		NM_014716	NP_055531	Q15027	ACAP1_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 (ACAP1), mRNA.	458	Arf-GAP.|Required for interaction with GULP1.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						TCCAAAGTCCGGTCTCTGACC	0.602000														26			25		0	0	0.002445	0	0
ABCC4	10257	broad.mit.edu	37	13	95861831	95861831	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:95861831G>A	uc001vmd.4	-	5	761	c.642C>T	c.(640-642)ttC>ttT	p.F214F	ABCC4_uc010afk.3_Silent_p.F214F|ABCC4_uc001vme.2_Silent_p.F214F|ABCC4_uc010tih.1_Silent_p.F139F|ABCC4_uc001vmf.2_Silent_p.F171F|ABCC4_uc010afl.1_Silent_p.F171F|ABCC4_uc010afm.1_Silent_p.F227F	NM_005845	NP_005836	O15439	MRP4_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA.	214	ABC transmembrane type-1 1.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	CTGCCCACAGGAAGTGTAAGA	0.473000														14			6		0	0	0.001168	0	0
FMNL2	114793	broad.mit.edu	37	2	153475482	153475482	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:153475482G>A	uc002tye.3	+	13	1804	c.1437G>A	c.(1435-1437)ggG>ggA	p.G479G	FMNL2_uc010fob.3_5'Flank|FMNL2_uc002tyf.3_5'Flank	NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	Homo sapiens formin-like 2 (FMNL2), mRNA.	479					actin cytoskeleton organization	cytoplasm	Rho GTPase binding|actin binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						AGAAACAAGGGACCATTAAAA	0.418000														40			18		0	0	0.001523	0	0
IRX4	50805	broad.mit.edu	37	5	1879842	1879842	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:1879842G>A	uc003jcz.2	-	3	631	c.512C>T	c.(511-513)aCc>aTc	p.T171I	IRX4_uc011cmf.1_Missense_Mutation_p.T32I	NM_016358	NP_057442	P78413	IRX4_HUMAN	Homo sapiens iroquois homeobox 4 (IRX4), mRNA.	171					heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		CTCGCCCTTGGTGGGGTAGGG	0.642000														52			39		0	0	0.002222	0	0
ABCA1	19	broad.mit.edu	37	9	107568554	107568554	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:107568554G>A	uc004bcl.3	-	30	4836	c.4432C>T	c.(4432-4434)Ccc>Tcc	p.P1478S		NM_005502	NP_005493	O95477	ABCA1_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 1 (ABCA1), mRNA.	1478					Cdc42 protein signal transduction|G-protein coupled receptor protein signaling pathway|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	ATP binding|ATPase activity|anion transmembrane transporter activity|apolipoprotein A-I receptor activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GCCCCTGGGGGACACACAGGC	0.572000														21			30		0	0	0.004878	0	0
OR4K14	122740	broad.mit.edu	37	14	20482618	20482618	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:20482618G>A	uc010tky.2	-	0	735	c.735C>T	c.(733-735)atC>atT	p.I245I		NM_001004712	NP_001004712	Q8NGD5	OR4KE_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 14 (OR4K14), mRNA.	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TCACTACCATGATATGTGCAG	0.493000														13			7		0	0	0.004482	0	0
LDB3	11155	broad.mit.edu	37	10	88476310	88476310	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:88476310C>T	uc001kdv.3	+	8	1481	c.1458C>T	c.(1456-1458)agC>agT	p.S486S	LDB3_uc010qml.1_Silent_p.S423S|LDB3_uc010qmm.2_Silent_p.S491S|LDB3_uc009xsz.3_Silent_p.S115S|LDB3_uc001kdu.3_Silent_p.S376S|LDB3_uc009xta.2_5'Flank	NM_007078	NP_009009	O75112	LDB3_HUMAN	Homo sapiens LIM domain binding 3 (LDB3), transcript variant 1, mRNA.	486						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						AGCCTGCCAGCCGTCCACCCT	0.657000														43			38		0	0	0.002222	0	0
CCR1	1230	broad.mit.edu	37	3	46245801	46245801	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:46245801C>T	uc003cph.1	-	1	75	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K	CCR3_uc003cpg.2_Intron|CCR1_uc021wwy.1_Missense_Mutation_p.E2K	NM_001295	NP_001286	P32246	CCR1_HUMAN	Homo sapiens chemokine (C-C motif) receptor 1 (CCR1), mRNA.	2					G-protein signaling, coupled to cyclic nucleotide second messenger|cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity	p.M1I(1)		autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		TTTGGAGTTTCCATCCCGGCT	0.483000														6			3		0	0	0.004672	0	0
CDH23	64072	broad.mit.edu	37	10	73491868	73491868	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:73491868G>A	uc001jrx.4	+	30	4224	c.3834G>A	c.(3832-3834)atG>atA	p.M1278I	CDH23_uc001jrz.3_Missense_Mutation_p.M1278I|C10orf105_uc001jsb.2_Intron|CDH23_uc001jsc.1_Missense_Mutation_p.M88I	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	1280	Cadherin 12.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CCAGCTACATGATGAATGTGT	0.567000														10			19		0	0	0.004656	0	0
LILRA1	11024	broad.mit.edu	37	19	55086445	55086445	+	Silent	SNP	G	A	A	rs141931276		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:55086445G>A	uc010ern.3	+	4	1069	c.600G>A	c.(598-600)tcG>tcA	p.S200S	LILRA1_uc002qgg.4_Silent_p.S200S|LILRA1_uc002qgf.3_Silent_p.S200S|LILRA1_uc010yfe.1_Silent_p.S200S|LILRA1_uc010yff.1_Silent_p.S188S|LILRA1_uc010ero.3_Silent_p.S188S|LILRA1_uc010yfg.1_Silent_p.S200S			O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA.	202	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CTTATGACTCGAACTCTCCCT	0.577000														93			60		0	0	0.003610	0	0
CNNM2	54805	broad.mit.edu	37	10	104836854	104836854	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:104836854G>A	uc001kwm.3	+	7	2708	c.2545G>A	c.(2545-2547)Gag>Aag	p.E849K	CNNM2_uc001kwn.3_Missense_Mutation_p.E827K	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN	Homo sapiens cyclin M2 (CNNM2), transcript variant 1, mRNA.	849					ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GTTGCCAGACGAGACAGCCAA	0.552000														52			34		0	0	0.003755	0	0
CHIT1	1118	broad.mit.edu	37	1	203188378	203188378	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:203188378A>T	uc001gzn.2	-	8	1091	c.995T>A	c.(994-996)gTg>gAg	p.V332E	CHIT1_uc001gzm.1_Non-coding_Transcript|CHIT1_uc009xal.1_Missense_Mutation_p.V123E|CHIT1_uc009xam.1_Non-coding_Transcript|CHIT1_uc009xan.1_Non-coding_Transcript|CHIT1_uc001gzo.2_Missense_Mutation_p.V323E	NM_003465	NP_003456	Q13231	CHIT1_HUMAN	Homo sapiens chitinase 1 (chitotriosidase) (CHIT1), transcript variant 1, mRNA.	332					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						ATCAAAGCCCACCCACTGGTT	0.557000														108			29		0	0	0.004878	0	0
LPAL2	80350	broad.mit.edu	37	6	160908348	160908348	+	RNA	SNP	T	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:160908348T>A	uc003qtj.2	-	3		c.625A>T			LPAL2_uc011efy.2_Non-coding_Transcript					Homo sapiens lipoprotein, Lp(a)-like 2, pseudogene (LPAL2), transcript variant 2, non-coding RNA.											large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		CACAGCCCTATTCTTGTCTGA	0.522000														7			13		0	0	0.001368	0	0
NLRP2	55655	broad.mit.edu	37	19	55494377	55494377	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:55494377C>T	uc021vbq.1	+	5	1422	c.1311C>T	c.(1309-1311)ttC>ttT	p.F437F	NLRP2_uc010yfp.2_Silent_p.F414F|NLRP2_uc002qij.3_Silent_p.F437F|NLRP2_uc010esp.3_Silent_p.F415F|NLRP2_uc010esn.3_Silent_p.F413F|NLRP2_uc010eso.3_Silent_p.F434F	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	437	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GCAGCCGGTTCCCGCAGGGCG	0.701000														9			6		0	0	0.004482	0	0
P2RY8	286530	broad.mit.edu	37	X	1584801	1584801	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:1584801G>A	uc022brv.1	-	0	651	c.651C>T	c.(649-651)atC>atT	p.I217I	CRLF2_uc022brt.1_Intron|P2RY8_uc004cpz.2_Silent_p.I217I	NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 8 (P2RY8), mRNA.	217						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ACAGCTTGAGGATGGTGGCCG	0.652000			T	CRLF2	"""B-ALL, Downs associated ALL"""									19			12		0	0	0.001368	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756792	94756792	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:94756792C>T	uc001yct.3	-	1	605	c.139G>A	c.(139-141)Gag>Aag	p.E47K	SERPINA10_uc001ycu.4_Missense_Mutation_p.E47K	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 (SERPINA10), transcript variant 1, mRNA.	47					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TCCTCTTCCTCCTTGGGAGCC	0.632000														4			11		0	0	0.000978	0	0
APCS	325	broad.mit.edu	37	1	159558139	159558139	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:159558139G>A	uc001ftv.3	+	1	409	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K		NM_001639	NP_001630	P02743	SAMP_HUMAN	Homo sapiens amyloid P component, serum (APCS), mRNA.	105	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding	p.I104I(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					CAAAGTTATCGAAAAGTTCCC	0.423000														13			43		0	0	0.003610	0	0
AP1M1	8907	broad.mit.edu	37	19	16345234	16345235	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:16345234_16345235CC>TT	uc002ndv.2	+	12	1469_1470	c.1296_1297CC>TT	c.(1294-1299)ctccgg>ctTTgg	p.R433W	AP1M1_uc002ndu.2_Missense_Mutation_p.R421W|AP1M1_uc010xpd.1_Missense_Mutation_p.R368W	NM_001130524	NP_001123996	Q9BXS5	AP1M1_HUMAN	Homo sapiens adaptor-related protein complex 1, mu 1 subunit (AP1M1), transcript variant 1, mRNA.	421					cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						ATTACCAGCTCCGGACCCAGTG	0.688000														23			14		0	0	0.004672	0	0
C7	730	broad.mit.edu	37	5	40958162	40958162	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:40958162G>A	uc003jmh.3	+	10	1402	c.1288G>A	c.(1288-1290)Gaa>Aaa	p.E430K	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	430	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GCTGGTAAAGGAAGTACCTTG	0.393000														12			5		0	0	0.000602	0	0
FRG2B	441581	broad.mit.edu	37	10	135438886	135438886	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:135438886G>A	uc010qvg.2	-	3	607	c.554C>T	c.(553-555)gCt>gTt	p.A185V		NM_001080998	NP_001074467	Q96QU4	FRG2B_HUMAN	Homo sapiens FSHD region gene 2 family, member B (FRG2B), mRNA.	185						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TTGATAAACAGCCTCTGACAT	0.572000														74			30		0	0	0.004289	0	0
NUMBL	9253	broad.mit.edu	37	19	41179335	41179335	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:41179335G>A	uc002oon.3	-	7	1118	c.950C>T	c.(949-951)tCg>tTg	p.S317L	NUMBL_uc010xvq.2_Missense_Mutation_p.S276L|NUMBL_uc010xvr.2_Missense_Mutation_p.S276L|NUMBL_uc002ooo.3_Missense_Mutation_p.S316L	NM_004756	NP_004747	Q9Y6R0	NUMBL_HUMAN	Homo sapiens numb homolog (Drosophila)-like (NUMBL), mRNA.	317					cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			TTTGAAAGGCGAGTTCTTCTG	0.667000														10			4		0	0	0.000248	0	0
SLC6A2	6530	broad.mit.edu	37	16	55725862	55725862	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:55725862C>T	uc021tio.1	+	4	867	c.816C>T	c.(814-816)ttC>ttT	p.F272F	SLC6A2_uc002eif.3_Silent_p.F272F|SLC6A2_uc002eig.3_Silent_p.F272F|SLC6A2_uc002eii.3_Silent_p.F167F|SLC6A2_uc002eij.3_Intron	NM_001172504	NP_001165975	P23975	SC6A2_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2 (SLC6A2), transcript variant 1, mRNA.	272					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity	p.F272F(3)		breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TGCCTTACTTCGTGCTGTTCG	0.607000														5			19		0	0	0.007413	0	0
C11orf41	25758	broad.mit.edu	37	11	33667283	33667283	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:33667283C>G	uc021qfs.1	+	15	4694	c.4570C>G	c.(4570-4572)Cgg>Ggg	p.R1524G		NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	Homo sapiens chromosome 11 open reading frame 41 (C11orf41), mRNA.	1524						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	52						TCCTGAGCCCCGGGGCTATTC	0.537000														44			13		0	0	0.001855	0	0
GABRQ	55879	broad.mit.edu	37	X	151821286	151821286	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:151821286G>A	uc004ffp.1	+	8	1461	c.1441G>A	c.(1441-1443)Gaa>Aaa	p.E481K		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, theta (GABRQ), mRNA.	481						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|neurotransmitter transporter activity	p.E481K(3)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					TTTTCCTACCGAAATCCGCAA	0.547000														5			77		0	0	0.003610	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140255968	140255968	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:140255968T>A	uc003lic.2	+	0	1038	c.911T>A	c.(910-912)aTt>aAt	p.I304N	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Missense_Mutation_p.I304N	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	319	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAATTAGAATTTATGGTGAA	0.378000														71			69		0	0	0.003610	0	0
SLC30A8	169026	broad.mit.edu	37	8	118159337	118159337	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:118159337G>A	uc003yoh.3	+	1	446	c.216G>A	c.(214-216)tgG>tgA	p.W72*	SLC30A8_uc010mcz.3_Nonsense_Mutation_p.W23*|SLC30A8_uc003yog.3_Nonsense_Mutation_p.W23*|SLC30A8_uc011lia.2_Nonsense_Mutation_p.W23*|SLC30A8_uc022bab.1_Nonsense_Mutation_p.W23*	NM_173851	NP_001166286	Q8IWU4	ZNT8_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 8 (SLC30A8), transcript variant 1, mRNA.	72					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			ATGCCAAGTGGAAACTCTGTT	0.483000														83			28		0	0	0.007291	0	0
S100A12	6283	broad.mit.edu	37	1	153346398	153346398	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:153346398C>A	uc001fbr.1	-	2	252	c.184G>T	c.(184-186)Gat>Tat	p.D62Y		NM_005621	NP_005612	P80511	S10AC_HUMAN	Homo sapiens S100 calcium binding protein A12 (S100A12), mRNA.	62	EF-hand 2.				defense response to bacterium|defense response to fungus|inflammatory response|innate immune response|killing of cells of other organism|positive regulation of I-kappaB kinase/NF-kappaB cascade|xenobiotic metabolic process	cytosol|extracellular region|insoluble fraction|nucleus	RAGE receptor binding|calcium ion binding|zinc ion binding			endometrium(1)|kidney(1)|skin(2)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)		Amlexanox(DB01025)	TGATTAGCATCCAGGCCTTGG	0.438000														16			30		1.39806e-14	1.95327e-14	0.001512	1	0
DAZAP1	26528	broad.mit.edu	37	19	1421204	1421204	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:1421204C>T	uc002lsn.3	+	4	550	c.361C>T	c.(361-363)Cct>Tct	p.P121S	DAZAP1_uc002lsm.3_Missense_Mutation_p.P121S	NM_018959	NP_061832	Q96EP5	DAZP1_HUMAN	Homo sapiens DAZ associated protein 1 (DAZAP1), transcript variant 2, mRNA.	121	RRM 2.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	RNA binding|nucleotide binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGTGGAATTCCTCACAATTG	0.498000														31			35		0	0	0.006230	0	0
CASR	846	broad.mit.edu	37	3	122002657	122002657	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:122002657T>C	uc003eew.4	+	6	2324	c.1886T>C	c.(1885-1887)tTt>tCt	p.F629S	CASR_uc003eev.4_Missense_Mutation_p.F619S	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	619					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CTCACCCTCTTTGCCGTGCTG	0.542000														25			18		0	0	0.007413	0	0
DNAH5	1767	broad.mit.edu	37	5	13841965	13841965	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:13841965C>T	uc003jfd.2	-	32	5362	c.5320G>A	c.(5320-5322)Gaa>Aaa	p.E1774K		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1774	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTATCCAATTCAATCGTCTCA	0.368000									Kartagener syndrome					30			31		0	0	0.004289	0	0
ARAP2	116984	broad.mit.edu	37	4	36216095	36216095	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:36216095G>A	uc003gsq.2	-	2	1251	c.913C>T	c.(913-915)Cgt>Tgt	p.R305C	ARAP2_uc003gsr.1_Missense_Mutation_p.R305C	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	305					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						CTTCTTTCACGGAAATAGCTT	0.274000														7			8		0	0	0.003080	0	0
abParts	0	broad.mit.edu	37	15	22473085	22473085	+	RNA	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:22473085C>T	uc001yuj.2	-	6		c.243G>A								Parts of antibodies, mostly variable regions.																		CCAGCCCCTTCCCTGGGGGCT	0.572000														82			22		0	0	0.002299	0	0
PZP	5858	broad.mit.edu	37	12	9349707	9349707	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:9349707C>T	uc001qvl.3	-	7	797	c.768G>A	c.(766-768)ggG>ggA	p.G256G	PZP_uc009zgl.3_Silent_p.G125G	NM_002864	NP_002855			Homo sapiens pregnancy-zone protein (PZP), mRNA.											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GGACAGGCTTCCCATAAGTGT	0.438000														17			27		0	0	0.002096	0	0
ACAP2	23527	broad.mit.edu	37	3	195028038	195028038	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:195028038C>T	uc003fun.4	-	11	1165	c.924G>A	c.(922-924)gtG>gtA	p.V308V		NM_012287	NP_036419	Q15057	ACAP2_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 (ACAP2), mRNA.	308	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						CTTCAACTACCACAGTCGGAT	0.373000														26			46		0	0	0.003610	0	0
PAQR3	152559	broad.mit.edu	37	4	79847852	79847852	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:79847852C>T	uc003hlp.1	-	3	729	c.525G>A	c.(523-525)ttG>ttA	p.L175L	PAQR3_uc003hlm.3_Non-coding_Transcript|PAQR3_uc003hln.3_Non-coding_Transcript|PAQR3_uc003hlq.1_Silent_p.L57L	NM_001040202	NP_001035292	Q6TCH7	PAQR3_HUMAN	Homo sapiens progestin and adipoQ receptor family member III (PAQR3), mRNA.	175						Golgi membrane|integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						GCACTGTGATCAAGTACACCT	0.388000														38			23		0	0	0.003330	0	0
VWF	7450	broad.mit.edu	37	12	6140679	6140680	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:6140679_6140680GG>AA	uc001qnn.1	-	20	3000_3001	c.2750_2751CC>TT	c.(2749-2751)ccc>cTT	p.P917L	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	917	VWFD 3.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	ATTTCACTGAGGGGTGGCTGCA	0.550000														54			16		0	0	0.004672	0	0
FBLN2	2199	broad.mit.edu	37	3	13655622	13655622	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:13655622G>A	uc011avc.2	+	4	2069	c.1687G>A	c.(1687-1689)Gag>Aag	p.E563K	FBLN2_uc011auz.2_Missense_Mutation_p.E589K|FBLN2_uc011avb.2_Missense_Mutation_p.E563K|FBLN2_uc011ava.2_Missense_Mutation_p.E563K|BC152380_uc003byc.1_5'Flank	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.	563						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CATAGTACCTGAGGTTCGCCG	0.607000														7			14		0	0	0.004990	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531512	140531512	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:140531512C>T	uc003lir.3	+	0	1674	c.1674C>T	c.(1672-1674)ttC>ttT	p.F558F		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	558	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTCGCCCTTCGTGTTGTACC	0.716000														52			38		0	0	0.007835	0	0
NLK	51701	broad.mit.edu	37	17	26490649	26490649	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:26490649C>T	uc010crj.3	+	4	1044	c.832C>T	c.(832-834)Cta>Tta	p.L278L		NM_016231	NP_057315	Q9UBE8	NLK_HUMAN	Homo sapiens nemo-like kinase (NLK), mRNA.	278	Protein kinase.				Wnt receptor signaling pathway|intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	ATP binding|MAP kinase activity|SH2 domain binding|magnesium ion binding|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CAACTGTGTTCTAAAGGTAGC	0.348000														9			3		0	0	0.004672	0	0
MAMDC2	256691	broad.mit.edu	37	9	72785526	72785526	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:72785526G>A	uc004ahm.2	+	10	2247	c.1630G>A	c.(1630-1632)Gga>Aga	p.G544R	MAMDC2_uc004ahn.2_Non-coding_Transcript|LOC100507244_uc004aho.1_Intron|LOC100507244_uc004ahp.1_Non-coding_Transcript	NM_153267	NP_694999	Q7Z304	MAMC2_HUMAN	Homo sapiens MAM domain containing 2 (MAMDC2), mRNA.	544	MAM 4.					endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						AGGACCAAAGGGAGATCACAC	0.458000														12			6		0	0	0.001168	0	0
FAM190A	401145	broad.mit.edu	37	4	91229611	91229612	+	Missense_Mutation	DNP	GG	AC	AC			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:91229611_91229612GG>AC	uc003hsv.4	+	1	516_517	c.176_177GG>AC	c.(175-177)cgg>cAC	p.R59H	FAM190A_uc003hsu.3_Missense_Mutation_p.R59H|FAM190A_uc010ikv.2_Non-coding_Transcript|FAM190A_uc003hsw.3_Missense_Mutation_p.R59H	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN	Homo sapiens family with sequence similarity 190, member A (FAM190A), transcript variant 1, mRNA.	59	Ser-rich.							p.G59D(2)		NS(2)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						ACAGGTAAACGGAGGAGCATAT	0.465000														22			6		0	0	0.004672	0	0
CALML5	51806	broad.mit.edu	37	10	5541009	5541009	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:5541009G>C	uc001iic.2	-	0	525	c.393C>G	c.(391-393)gaC>gaG	p.D131E		NM_017422	NP_059118	Q9NZT1	CALL5_HUMAN	Homo sapiens calmodulin-like 5 (CALML5), mRNA.	131	EF-hand 4.				epidermis development|signal transduction		calcium ion binding|protein binding			biliary_tract(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|stomach(1)	8						TCACCCGCCCGTCCTGGTCCA	0.716000														8			3		0	0	0.000248	0	0
AKNA	80709	broad.mit.edu	37	9	117139657	117139657	+	Silent	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:117139657A>G	uc004biq.3	-	1	565	c.430T>C	c.(430-432)Ttg>Ctg	p.L144L	AKNA_uc004bio.3_5'Flank|AKNA_uc004bip.3_Silent_p.L63L|AKNA_uc004bir.3_Silent_p.L144L|AKNA_uc004bis.3_Silent_p.L144L|AKNA_uc010mve.2_Silent_p.L25L|AKNA_uc004biu.1_Intron|AKNA_uc004biv.1_Silent_p.L144L|AKNA_uc004biw.1_Silent_p.L144L	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN	Homo sapiens AT-hook transcription factor (AKNA), mRNA.	144					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						TCATACCCCAACCTTGAGGAG	0.622000														16			3		0	0	0.004672	0	0
C2orf55	343990	broad.mit.edu	37	2	99439518	99439518	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:99439518G>A	uc002szf.1	-	6	1512	c.1218C>T	c.(1216-1218)atC>atT	p.I406I		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	Homo sapiens chromosome 2 open reading frame 55 (C2orf55), mRNA.	406	Pro-rich.									NS(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						CCCCCTCAGGGATGGCGGTGG	0.731000														4			8		0	0	0.003080	0	0
OR2A25	392138	broad.mit.edu	37	7	143772038	143772038	+	Silent	SNP	C	T	T	rs143437637	by1000genomes	TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:143772038C>T	uc011ktx.2	+	0	726	c.726C>T	c.(724-726)tcC>tcT	p.S242S		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA.	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TCTGCTCCTCCCACCTCTGTG	0.468000														58			54		0	0	0.003610	0	0
TMCC3	57458	broad.mit.edu	37	12	94975784	94975784	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:94975784G>A	uc001tdj.2	-	1	727	c.609C>T	c.(607-609)tcC>tcT	p.S203S	TMCC3_uc001tdi.2_Silent_p.S172S	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 3 (TMCC3), mRNA.	203						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						CAAACTCTCTGGACTTATTGA	0.512000														53			19		0	0	0.001523	0	0
ANKRD35	148741	broad.mit.edu	37	1	145562884	145562884	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:145562884G>A	uc001eob.1	+	9	2680	c.2572G>A	c.(2572-2574)Gaa>Aaa	p.E858K	ANKRD35_uc010oyx.1_Missense_Mutation_p.E701K	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA.	858										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGCTCTGTTGGAAAAGTATAA	0.677000														8			15		0	0	0.003163	0	0
PARD3	56288	broad.mit.edu	37	10	34759113	34759113	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:34759113G>A	uc010qej.2	-	3	812	c.482C>T	c.(481-483)tCc>tTc	p.S161F	PARD3_uc010qep.2_Missense_Mutation_p.S161F|PARD3_uc010qeq.2_Missense_Mutation_p.S161F|PARD3_uc010qek.2_Missense_Mutation_p.S161F|PARD3_uc010qel.2_Missense_Mutation_p.S161F|PARD3_uc010qem.2_Missense_Mutation_p.S161F|PARD3_uc010qen.2_Missense_Mutation_p.S161F|PARD3_uc010qeo.2_Missense_Mutation_p.S161F|PARD3_uc001ixr.2_Missense_Mutation_p.S161F|PARD3_uc001ixq.2_Missense_Mutation_p.S161F|PARD3_uc001ixp.2_Missense_Mutation_p.S161F|PARD3_uc001ixt.1_Missense_Mutation_p.S26F|PARD3_uc001ixu.2_Missense_Mutation_p.S161F	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog (C. elegans) (PARD3), transcript variant 1, mRNA.	161					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	p.S161F(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				CTCTTCAGAGGAAAAATTACT	0.473000														51			49		0	0	0.003610	0	0
CDCP1	64866	broad.mit.edu	37	3	45127229	45127229	+	Silent	SNP	T	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:45127229T>C	uc003com.3	-	8	2547	c.2412A>G	c.(2410-2412)gaA>gaG	p.E804E		NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.	804						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		AGGTGTACGGTTCACTCTCAG	0.567000														25			25		0	0	0.005443	0	0
BARX1	56033	broad.mit.edu	37	9	96715078	96715078	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:96715078G>A	uc010mrh.3	-	2	713	c.533C>T	c.(532-534)tCc>tTc	p.S178F	BARX1_uc004aud.3_Missense_Mutation_p.S24F	NM_021570	NP_067545	Q9HBU1	BARX1_HUMAN	Homo sapiens BARX homeobox 1 (BARX1), mRNA.	178						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)	1						CAGGCCCAGGGACTCAGCAAG	0.592000														13			10		0	0	0.000978	0	0
ANO4	121601	broad.mit.edu	37	12	101413818	101413818	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:101413818C>T	uc010svm.1	+	8	1313	c.741C>T	c.(739-741)atC>atT	p.I247I	ANO4_uc010svl.1_Non-coding_Transcript|ANO4_uc001thw.2_Silent_p.I212I|ANO4_uc001thx.2_Silent_p.I247I	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	247						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GCAGCTTCATCATACACAACA	0.318000										HNSCC(74;0.22)				8			18		0	0	0.007413	0	0
OR52M1	119772	broad.mit.edu	37	11	4566492	4566492	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:4566492C>T	uc010qyf.2	+	0	72	c.72C>T	c.(70-72)tcC>tcT	p.S24S		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA.	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGCTGGAGTCCCTACACGTCT	0.532000														13			25		0	0	0.001786	0	0
C8A	731	broad.mit.edu	37	1	57320593	57320593	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:57320593T>A	uc001cyo.2	+	0	151	c.19T>A	c.(19-21)Ttc>Atc	p.F7I		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	7					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						TGTTGTTTTCTTCATCTTGTC	0.428000														15			4		0	0	0.000602	0	0
WBP11P1	441818	broad.mit.edu	37	18	30092744	30092744	+	RNA	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:30092744C>T	uc010dmc.3	+	0		c.1119C>T								Homo sapiens WW domain binding protein 11 pseudogene 1 (WBP11P1), non-coding RNA.																		CCTGGAAAATCAAGGAAGAAA	0.458000														13			14		0	0	0.003163	0	0
DLC1	10395	broad.mit.edu	37	8	12947854	12947854	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:12947854G>C	uc003wwm.2	-	14	4425	c.3981C>G	c.(3979-3981)gaC>gaG	p.D1327E	DLC1_uc003wwk.1_Missense_Mutation_p.D890E|DLC1_uc003wwl.1_Missense_Mutation_p.D924E|DLC1_uc011kxx.1_Missense_Mutation_p.D816E	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	1327	START.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CATCCACACAGTCCTGGAGGA	0.502000														4			17		0	0	0.006122	0	0
HUNK	30811	broad.mit.edu	37	21	33362477	33362477	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr21:33362477C>T	uc002yph.3	+	8	1653	c.1293C>T	c.(1291-1293)ttC>ttT	p.F431F		NM_014586	NP_055401	P57058	HUNK_HUMAN	Homo sapiens hormonally up-regulated Neu-associated kinase (HUNK), mRNA.	431					multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						ATCTTGAATTCCATGCCGTGC	0.443000														45			45		0	0	0.003610	0	0
FAM47A	158724	broad.mit.edu	37	X	34150161	34150161	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:34150161G>A	uc004ddg.3	-	0	287	c.235C>T	c.(235-237)Ccc>Tcc	p.P79S		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	79								p.L78L(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GATATTTTGGGGAGTAAAAAC	0.537000														0			43		0	0	0.003610	0	0
C12orf54	121273	broad.mit.edu	37	12	48888608	48888608	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:48888608G>A	uc001rrr.3	+	7	401	c.270G>A	c.(268-270)atG>atA	p.M90I	C12orf54_uc009zky.1_Non-coding_Transcript	NM_152319	NP_689532	Q6X4T0	CL054_HUMAN	Homo sapiens chromosome 12 open reading frame 54 (C12orf54), mRNA.	90										endometrium(1)|large_intestine(4)	5						ATTCCTTGATGACCCCAAAGT	0.483000														25			43		0	0	0.003610	0	0
SLC27A5	10998	broad.mit.edu	37	19	59012679	59012679	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:59012679G>A	uc002qtc.2	-	3	1266	c.1156C>T	c.(1156-1158)Ctg>Ttg	p.L386L	SLC27A5_uc002qtb.3_5'Flank	NM_012254	NP_036386	Q9Y2P5	S27A5_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 5 (SLC27A5), mRNA.	386					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		AAGTACCGCAGGAGCTCGCCC	0.527000														65			59		0	0	0.003610	0	0
TRPC3	7222	broad.mit.edu	37	4	122854176	122854176	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:122854176G>A	uc003ieg.2	-	1	311	c.237C>T	c.(235-237)tcC>tcT	p.S79S	TRPC3_uc010inr.2_Silent_p.S6S|TRPC3_uc003ief.2_Silent_p.S6S|TRPC3_uc011cgl.1_5'UTR	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA.	0					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TGCGTCTCAGGGATGGGCTTC	0.572000														37			19		0	0	0.001523	0	0
ABCA9	10350	broad.mit.edu	37	17	66978774	66978774	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:66978774G>A	uc002jhu.3	-	36	4792	c.4649C>T	c.(4648-4650)tCc>tTc	p.S1550F	ABCA9_uc010dez.3_Missense_Mutation_p.S1512F	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	1550					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GACCATCAGGGAGGAGAACCT	0.458000														56			38		0	0	0.005524	0	0
CYP2C9	1559	broad.mit.edu	37	10	96702028	96702028	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:96702028G>A	uc001kka.4	+	2	436	c.411G>A	c.(409-411)ggG>ggA	p.G137G	CYP2C9_uc009xut.3_Silent_p.G137G|CYP2C9_uc001kjz.3_Silent_p.G137G	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	137					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	TTGGGATGGGGAAGAGGAGCA	0.498000														27			22		0	0	0.003954	0	0
IRX1	79192	broad.mit.edu	37	5	3599723	3599723	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:3599723G>A	uc003jde.3	+	1	713	c.661G>A	c.(661-663)Gag>Aag	p.E221K		NM_024337	NP_077313	P78414	IRX1_HUMAN	Homo sapiens iroquois homeobox 1 (IRX1), mRNA.	221						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CGAGGACGACGAGGAGATCGA	0.627000														22			17		0	0	0.006122	0	0
CTBS	1486	broad.mit.edu	37	1	85029459	85029459	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:85029459G>A	uc001dka.2	-	4	819	c.754C>T	c.(754-756)Cct>Tct	p.P252S	CTBS_uc001dkc.3_Missense_Mutation_p.P161S|CTBS_uc001dkb.2_Missense_Mutation_p.P46S	NM_004388	NP_004379	Q01459	DIAC_HUMAN	Homo sapiens chitobiase, di-N-acetyl- (CTBS), mRNA.	252						lysosome	cation binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		CCATACCAAGGAACACCCATT	0.323000														31			66		0	0	0.003610	0	0
GCAT	23464	broad.mit.edu	37	22	38208991	38208991	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:38208991T>C	uc003aua.2	+	2	566	c.503T>C	c.(502-504)tTt>tCt	p.F168S	GCAT_uc003atz.3_Missense_Mutation_p.F142S	NM_001171690	NP_001165161	O75600	KBL_HUMAN	Homo sapiens glycine C-acetyltransferase (GCAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	142					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	GCCGGCCTCTTTGAGGTGTGT	0.577000														34			27		0	0	0.001786	0	0
CHL1	10752	broad.mit.edu	37	3	369956	369956	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:369956C>T	uc003bot.3	+	4	946	c.304C>T	c.(304-306)Cac>Tac	p.H102Y	CHL1_uc003bou.3_Missense_Mutation_p.H102Y|CHL1_uc003bow.2_Missense_Mutation_p.H102Y|CHL1_uc011asi.2_Missense_Mutation_p.H102Y	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	102	Ig-like C2-type 1.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		GCACATATCTCACTTTCAAGG	0.403000														10			10		0	0	0.000978	0	0
PDZD4	57595	broad.mit.edu	37	X	153073942	153073943	+	Silent	DNP	GG	TA	TA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:153073942_153073943GG>TA	uc004fja.1	-	1	418_419	c.168_169CC>TA	c.(166-171)ctccgg>ctTAgg	p.56_57LR>LR	PDZD4_uc004fiy.1_5'UTR|PDZD4_uc004fiz.1_Silent_p.56_57LR>LR|PDZD4_uc004fix.2_5'UTR|PDZD4_uc011mze.1_Intron	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	Homo sapiens PDZ domain containing 4 (PDZD4), mRNA.	56						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGTCCCCCCGGAGGCGGGGGC	0.649000														0			14		0	0	0.004672	0	0
NPFFR2	10886	broad.mit.edu	37	4	73003785	73003785	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:73003785G>A	uc003hgg.2	+	2	761	c.663G>A	c.(661-663)aaG>aaA	p.K221K	NPFFR2_uc010iig.2_Silent_p.K3K|NPFFR2_uc003hgi.2_Silent_p.K122K|NPFFR2_uc003hgh.2_Silent_p.K119K	NM_004885	NP_444264	Q9Y5X5	NPFF2_HUMAN	Homo sapiens neuropeptide FF receptor 2 (NPFFR2), transcript variant 1, mRNA.	221					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			CGATGTGCAAGATCAGTGGAT	0.383000														14			11		0	0	0.000978	0	0
NFASC	23114	broad.mit.edu	37	1	204951081	204951081	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:204951081C>T	uc010prc.2	+	19	2633	c.1104C>T	c.(1102-1104)gtC>gtT	p.V368V	NFASC_uc001hbj.3_Silent_p.V801V|NFASC_uc010pra.2_Silent_p.V797V|NFASC_uc001hbi.3_Silent_p.V797V|NFASC_uc010prb.2_Silent_p.V812V|NFASC_uc001hbk.1_Silent_p.V607V|NFASC_uc001hbl.2_Silent_p.V51V			O94856	NFASC_HUMAN	Homo sapiens neurofascin (NFASC), transcript variant 2, mRNA.	801	Ig-like C2-type 4.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	p.V797V(1)|p.V801V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AGATCCGAGTCCAGGCTGAAA	0.602000														4			14		0	0	0.002450	0	0
KIF5C	3800	broad.mit.edu	37	2	149853789	149853789	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:149853789G>A	uc010zbu.2	+	17	2430	c.2035G>A	c.(2035-2037)Gaa>Aaa	p.E679K	KIF5C_uc002tws.1_Non-coding_Transcript|KIF5C_uc002twt.3_Missense_Mutation_p.E231K|KIF5C_uc002twu.1_5'Flank	NM_004522	NP_004513	O60282	KIF5C_HUMAN	Homo sapiens kinesin family member 5C (KIF5C), mRNA.	679					microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		AAAAATGCACGAAGTCAGCTT	0.403000														18			7		0	0	0.004482	0	0
FBXW10	10517	broad.mit.edu	37	17	18682579	18682579	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:18682579G>A	uc002gul.3	+	11	3386	c.3154G>A	c.(3154-3156)Gcc>Acc	p.A1052T	FBXW10_uc002guj.3_Missense_Mutation_p.A1042T|FBXW10_uc002guk.3_Missense_Mutation_p.A1043T|FBXW10_uc010cqh.2_Missense_Mutation_p.A990T|FAM18B1_uc002gum.2_5'Flank	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN	Homo sapiens F-box and WD repeat domain containing 10 (FBXW10), mRNA.	1043										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						GAAAACAGCGGCCCCTGAACT	0.428000														0			17		0	0	0.004007	0	0
SLC36A2	153201	broad.mit.edu	37	5	150715005	150715005	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:150715005G>A	uc003lty.3	-	5	759	c.629C>T	c.(628-630)cCc>cTc	p.P210L	SLC36A2_uc003ltz.3_Non-coding_Transcript|SLC36A2_uc003lua.3_Missense_Mutation_p.P12L|SLC36A2_uc010jhv.2_Missense_Mutation_p.P210L	NM_181776	NP_861441	Q495M3	S36A2_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 2 (SLC36A2), mRNA.	210					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity	p.P210H(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACCAGGAAGGGCAGGAAGGA	0.522000														54			34		0	0	0.004878	0	0
SERPINA3	12	broad.mit.edu	37	14	95085539	95085539	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:95085539G>T	uc001ydp.3	+	2	810	c.651G>T	c.(649-651)tgG>tgT	p.W217C	SERPINA3_uc001ydo.4_Missense_Mutation_p.W242C|SERPINA3_uc001ydr.3_Intron|SERPINA3_uc021sbb.1_Intron|SERPINA3_uc010avg.3_Missense_Mutation_p.W217C|SERPINA3_uc001yds.3_Missense_Mutation_p.W217C	NM_001085	NP_001076	P01011	AACT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 (SERPINA3), mRNA.	217					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		CAGCCAAATGGGAGATGCCCT	0.532000														41			17		2.48551e-13	3.46761e-13	0.004990	1	0
GPR63	81491	broad.mit.edu	37	6	97246859	97246859	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:97246859G>A	uc010kcl.3	-	2	1227	c.749C>T	c.(748-750)tCt>tTt	p.S250F	GPR63_uc003pou.3_Missense_Mutation_p.S250F|GPR63_uc021zcy.1_Missense_Mutation_p.S250F	NM_001143957	NP_001137429	Q9BZJ6	GPR63_HUMAN	Homo sapiens G protein-coupled receptor 63 (GPR63), transcript variant 1, mRNA.	250						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		TATGAAGAAAGAAATGAGAGA	0.468000														23			27		0	0	0.007291	0	0
ESF1	51575	broad.mit.edu	37	20	13695813	13695813	+	Splice_Site	SNP	A	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:13695813A>C	uc002woj.3	-	14	2371	c.2263_splice	c.e14-1	p.V755_splice		NM_016649	NP_057733	Q9H501	ESF1_HUMAN	Homo sapiens ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae) (ESF1), mRNA.	755	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						GTTAACATTTACCTGCAAATC	0.338000														20			10		0	0	0.000978	0	0
IDE	3416	broad.mit.edu	37	10	94230032	94230032	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:94230032G>A	uc001kia.3	-	17	2263	c.2187C>T	c.(2185-2187)ctC>ctT	p.L729L	IDE_uc010qnp.2_Silent_p.L174L|IDE_uc001khz.3_Silent_p.L174L	NM_004969	NP_004960	P14735	IDE_HUMAN	Homo sapiens insulin-degrading enzyme (IDE), transcript variant 1, mRNA.	729					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGTTTCCATGGAGAAGGGCTT	0.443000														252			207		0	0	0.003610	0	0
ZNF672	79894	broad.mit.edu	37	1	249142794	249142794	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:249142794C>T	uc001iex.3	+	3	2016	c.1321C>T	c.(1321-1323)Ccg>Tcg	p.P441S	ZNF672_uc021pme.1_Missense_Mutation_p.P441S	NM_024836	NP_079112	Q499Z4	ZN672_HUMAN	Homo sapiens zinc finger protein 672 (ZNF672), mRNA.	441					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(1)	5	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CTTTGAGGGGCCGGCTGAACA	0.622000														13			5		0	0	0.001168	0	0
WDR67	93594	broad.mit.edu	37	8	124138819	124138819	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:124138819C>T	uc003ypp.2	+	12	1866	c.1776C>T	c.(1774-1776)ttC>ttT	p.F592F	WDR67_uc011lig.2_Silent_p.F592F|WDR67_uc011lih.2_Silent_p.F482F|WDR67_uc003ypq.2_Non-coding_Transcript|WDR67_uc003yps.2_Silent_p.F305F|WDR67_uc003ypu.2_Silent_p.F49F	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	Homo sapiens WD repeat domain 67 (WDR67), transcript variant 1, mRNA.	592	Rab-GAP TBC.					centrosome	Rab GTPase activator activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			TGAAATTGTTCGATAATATCT	0.383000														15			28		0	0	0.006320	0	0
EHD2	30846	broad.mit.edu	37	19	48220248	48220248	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:48220248C>T	uc002phj.4	+	1	629	c.379C>T	c.(379-381)Cct>Tct	p.P127S	EHD2_uc010xyu.2_Intron	NM_014601	NP_055416	Q9NZN4	EHD2_HUMAN	Homo sapiens EH-domain containing 2 (EHD2), mRNA.	127					blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|nucleic acid binding	p.P127L(1)		endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		CAAACTCAACCCTTTCGGAAA	0.587000														29			29		0	0	0.002096	0	0
MASP2	10747	broad.mit.edu	37	1	11106723	11106723	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:11106723G>A	uc001aru.3	-	2	334	c.302C>T	c.(301-303)cCt>cTt	p.P101L	MASP2_uc001arv.3_Missense_Mutation_p.P101L|MASP2_uc001arw.3_Missense_Mutation_p.P101L|MASP2_uc001arx.2_Missense_Mutation_p.P101L	NM_006610	NP_006601	O00187	MASP2_HUMAN	Homo sapiens mannan-binding lectin serine peptidase 2 (MASP2), transcript variant 1, mRNA.	101	CUB 1.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		GTCCTTGCCAGGGGCCCGCTC	0.632000														25			6		0	0	0.001168	0	0
ANK3	288	broad.mit.edu	37	10	61834223	61834223	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:61834223G>A	uc001jky.3	-	36	6754	c.6416C>T	c.(6415-6417)tCa>tTa	p.S2139L	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	2139					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTGTGGGGCTGAAGGTGTCTT	0.423000														31			35		0	0	0.003755	0	0
TTN	7273	broad.mit.edu	37	2	179416710	179416710	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:179416710C>T	uc021vsy.1	-	283	83438	c.83213G>A	c.(83212-83214)gGa>gAa	p.G27738E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G21433E|TTN_uc021vta.1_Missense_Mutation_p.G21366E|TTN_uc021vtb.1_Missense_Mutation_p.G21241E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	28665	Fibronectin type-III 102.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGGCTGACTCCGTATCTGTT	0.433000														20			30		0	0	0.001512	0	0
CUX1	1523	broad.mit.edu	37	7	101917540	101917540	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:101917540A>C	uc003uyt.3	+	15	1536	c.1409A>C	c.(1408-1410)aAg>aCg	p.K470T	CUX1_uc003uyw.3_Missense_Mutation_p.K424T|CUX1_uc003uyv.3_Missense_Mutation_p.K454T|CUX1_uc003uyu.3_Missense_Mutation_p.K468T|CUX1_uc011kkn.2_Missense_Mutation_p.K431T	NM_001913	NP_001904	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 2, mRNA.	311					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CGCCTGGAGAAGATCCCAGAG	0.592000														35			20		0	0	0.003330	0	0
KIAA1244	57221	broad.mit.edu	37	6	138601299	138601299	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:138601299C>T	uc003qhu.3	+	13	2630	c.2459C>T	c.(2458-2460)aCc>aTc	p.T820I		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	820					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		ACAATGCTGACCGGTCAGTGG	0.562000														9			4		0	0	0.000248	0	0
GPR139	124274	broad.mit.edu	37	16	20084858	20084858	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:20084858G>A	uc002dgu.1	-	0	243	c.81C>T	c.(79-81)ttC>ttT	p.F27F	GPR139_uc010vaw.1_5'UTR	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA.	27						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						CCACGGGCACGAAACCCAAGC	0.682000														9			4		0	0	0.001168	0	0
DOCK6	57572	broad.mit.edu	37	19	11363581	11363581	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:11363581G>A	uc002mqs.4	-	2	227	c.186C>T	c.(184-186)agC>agT	p.S62S		NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	Homo sapiens dedicator of cytokinesis 6 (DOCK6), mRNA.	62					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CTGGTGGCCGGCTCAGAAGTA	0.607000														16			5		0	0	0.000602	0	0
TLE2	7089	broad.mit.edu	37	19	3006639	3006639	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:3006639C>T	uc010dth.3	-	14	1545	c.1282G>A	c.(1282-1284)Ggg>Agg	p.G428R	TLE2_uc010xhb.2_Missense_Mutation_p.G94R|TLE2_uc002lww.3_Missense_Mutation_p.G427R|TLE2_uc010xhc.2_Missense_Mutation_p.G305R|TLE2_uc010dti.3_Missense_Mutation_p.G441R|TLE2_uc010xhd.1_Missense_Mutation_p.G335R	NM_003260	NP_003251	Q04725	TLE2_HUMAN	Homo sapiens transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) (TLE2), transcript variant 1, mRNA.	427					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				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)		TGCATCTGCCCGTCCGCAGAC	0.716000														14			10		0	0	0.000673	0	0
SLC22A16	85413	broad.mit.edu	37	6	110777963	110777963	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:110777963T>A	uc003puf.3	-	1	378	c.311A>T	c.(310-312)aAt>aTt	p.N104I	SLC22A16_uc003pue.3_Missense_Mutation_p.N85I|SLC22A16_uc003pug.3_Missense_Mutation_p.N104I	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 16 (SLC22A16), mRNA.	104					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		CTCCCTCTTATTCCTGCTACA	0.473000														80			75		0	0	0.003610	0	0
FBN2	2201	broad.mit.edu	37	5	127674734	127674734	+	Silent	SNP	A	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:127674734A>T	uc003kuu.3	-	25	3802	c.3363T>A	c.(3361-3363)atT>atA	p.I1121I	FBN2_uc003kuv.2_Silent_p.I1088I	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	1121	EGF-like 16; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGTCAGGAGAAATCCTGCACT	0.453000														25			22		0	0	0.002780	0	0
DSP	1832	broad.mit.edu	37	6	7567682	7567682	+	Splice_Site	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:7567682G>A	uc003mxp.1	+	9	1419	c.1140_splice	c.e9+1	p.Q380_splice	DSP_uc003mxq.1_Splice_Site_p.Q380_splice|DSP_uc021yle.1_Splice_Site_p.Q380_splice	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	380	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CCTACTTTCAGGTTTTTATAT	0.343000														42			12		0	0	0.003163	0	0
NEK9	91754	broad.mit.edu	37	14	75551277	75551278	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:75551277_75551278GG>AA	uc001xrl.3	-	21	3083_3084	c.2929_2930CC>TT	c.(2929-2931)ccc>TTc	p.P977F	NEK9_uc001xrj.3_Missense_Mutation_p.P196F|NEK9_uc001xrk.3_Missense_Mutation_p.P477F	NM_033116	NP_149107	Q8TD19	NEK9_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 9 (NEK9), mRNA.	977					cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		CTAGAGGCTGGGTCTACAGGAG	0.515000														94			66		0	0	0.004672	0	0
AHNAK2	113146	broad.mit.edu	37	14	105419328	105419328	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:105419328G>A	uc010axc.1	-	6	2580	c.2460C>T	c.(2458-2460)tcC>tcT	p.S820S	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.S720S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	820						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGTCGGCCAGGGACAGGTCCC	0.602000														262			98		0	0	0.003610	0	0
DCC	1630	broad.mit.edu	37	18	50918176	50918176	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:50918176C>T	uc002lfe.2	+	16	3223	c.2607C>T	c.(2605-2607)gtC>gtT	p.V869V	DCC_uc010xdr.1_Silent_p.V697V|DCC_uc010dpf.2_Silent_p.V504V	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	869	Fibronectin type-III 5.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ACAACTCTGTCCCTAAGAACC	0.522000														34			21		0	0	0.003330	0	0
RGNEF	64283	broad.mit.edu	37	5	73207295	73207295	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:73207295G>A	uc010izf.3	+	34	5019	c.4843G>A	c.(4843-4845)Gac>Aac	p.D1615N	RGNEF_uc011csq.2_Missense_Mutation_p.D1615N|RGNEF_uc021yam.1_Missense_Mutation_p.D1615N|RGNEF_uc011csr.2_Missense_Mutation_p.D1302N|RGNEF_uc003kcz.4_Missense_Mutation_p.D579N|RGNEF_uc003kda.4_Missense_Mutation_p.D535N	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.	1615	Interaction with microtubules (By similarity).				cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	RNA binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding						Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		CCTCAAGGTGGACCCTTCTCA	0.468000														18			9		0	0	0.006214	0	0
COG7	91949	broad.mit.edu	37	16	23444941	23444941	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:23444941G>A	uc002dlo.3	-	5	932	c.735C>T	c.(733-735)tcC>tcT	p.S245S		NM_153603	NP_705831	P83436	COG7_HUMAN	Homo sapiens component of oligomeric golgi complex 7 (COG7), mRNA.	245					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		GCCGGTCCAGGGATAGGTCAC	0.507000														14			23		0	0	0.003330	0	0
FASLG	356	broad.mit.edu	37	1	172634825	172634825	+	Missense_Mutation	SNP	C	T	T	rs80358236		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:172634825C>T	uc001gis.3	+	3	672	c.515C>T	c.(514-516)tCt>tTt	p.S172F	FASLG_uc001git.3_3'UTR	NM_000639	NP_000630	P48023	TNFL6_HUMAN	Homo sapiens Fas ligand (TNF superfamily, member 6) (FASLG), mRNA.	172					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						GTCCTGCTTTCTGGAGTGAAG	0.433000														43			15		0	0	0.006122	0	0
WRB	7485	broad.mit.edu	37	21	40762755	40762755	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr21:40762755G>A	uc002yxs.3	+	1	332	c.234G>A	c.(232-234)aaG>aaA	p.K78K	WRB_uc011aeo.1_Non-coding_Transcript|WRB_uc011aep.1_Silent_p.K78K|WRB_uc002yxt.4_Silent_p.K44K|WRB_uc010goj.3_Non-coding_Transcript	NM_004627	NP_001139690	O00258	WRB_HUMAN	Homo sapiens tryptophan rich basic protein (WRB), transcript variant 1, mRNA.	78						integral to membrane|nucleolus				endometrium(3)	3		Prostate(19;1.2e-06)				TGGAAAGAAAGATCAACAAGA	0.493000														16			11		0	0	0.001368	0	0
FHOD3	80206	broad.mit.edu	37	18	34205568	34205568	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:34205568G>A	uc021uiv.1	+	9	1149	c.1052G>A	c.(1051-1053)gGa>gAa	p.G351E	FHOD3_uc002kzr.1_Missense_Mutation_p.G351E|FHOD3_uc002kzs.1_Missense_Mutation_p.G351E|FHOD3_uc002kzt.1_Missense_Mutation_p.G351E|FHOD3_uc002kzu.1_Missense_Mutation_p.G176E|FHOD3_uc010dmz.1_Missense_Mutation_p.G104E	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	Homo sapiens formin homology 2 domain containing 3 (FHOD3), mRNA.	351	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				TCCAGTGGCGGAGGCGAGCAC	0.697000														12			5		0	0	0.000602	0	0
MED13L	23389	broad.mit.edu	37	12	116429709	116429709	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:116429709T>A	uc001tvw.3	-	16	3105	c.3050A>T	c.(3049-3051)cAg>cTg	p.Q1017L		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	Homo sapiens mediator complex subunit 13-like (MED13L), mRNA.	1017					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TGTGTTCATCTGTGGTGTGTT	0.547000														5			14		0	0	0.003163	0	0
RPL10	6134	broad.mit.edu	37	X	153628953	153628953	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:153628953C>T	uc004fkm.2	+	5	666	c.478C>T	c.(478-480)Cct>Tct	p.P160S	AK307233_uc010nuv.2_5'Flank|RPL10_uc004fko.2_Intron|RPL10_uc004fkn.1_Missense_Mutation_p.P160S|RPL10_uc004fkq.1_Intron|RPL10_uc004fkr.1_Missense_Mutation_p.P85S	NM_006013	NP_006004	P27635	RL10_HUMAN	Homo sapiens ribosomal protein L10 (RPL10), transcript variant 1, mRNA.	160					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome			large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTTCAAGTTTCCTGGCCGCCA	0.557000														2			48		0	0	0.003610	0	0
CCM2	83605	broad.mit.edu	37	7	45104172	45104172	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:45104172G>A	uc003tms.3	+	3	533	c.462G>A	c.(460-462)agG>agA	p.R154R	CCM2_uc003tmn.3_Non-coding_Transcript|CCM2_uc003tmo.3_Silent_p.R133R|CCM2_uc003tmp.3_Silent_p.R75R|CCM2_uc003tmr.3_Silent_p.R133R|CCM2_uc011kcb.2_Silent_p.R96R|CCM2_uc011kcc.2_Silent_p.R126R	NM_001029835	NP_001025006	Q9BSQ5	CCM2_HUMAN	Homo sapiens cerebral cavernous malformation 2 (CCM2), transcript variant 1, mRNA.	133	PID.				endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding			NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						TCATCCTCAGGGTGCCCATCC	0.602000														2			15		0	0	0.003163	0	0
PSD4	23550	broad.mit.edu	37	2	113942555	113942555	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:113942555C>T	uc002tjc.3	+	2	1261	c.1078C>T	c.(1078-1080)Cca>Tca	p.P360S	PSD4_uc002tjd.3_5'UTR|PSD4_uc002tje.3_Missense_Mutation_p.P359S|PSD4_uc002tjf.3_5'UTR	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	360					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	p.P360Q(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGGTCCTGCTCCATCTgcagc	0.547000														64			82		0	0	0.003610	0	0
ZNF444	55311	broad.mit.edu	37	19	56671149	56671149	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:56671149C>T	uc002qmm.3	+	4	951	c.563C>T	c.(562-564)tCc>tTc	p.S188F	ZNF444_uc002qmn.2_Missense_Mutation_p.S187F	NM_018337	NP_060807	Q8N0Y2	ZN444_HUMAN	Homo sapiens zinc finger protein 444 (ZNF444), transcript variant 1, mRNA.	188					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|lung(5)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0531)		GGCAAAACGTCCCTGAAACCA	0.716000														3			3		0	0	0.004672	0	0
MXRA5	25878	broad.mit.edu	37	X	3235955	3235955	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:3235955G>A	uc004crg.4	-	5	5924	c.5767C>T	c.(5767-5769)Cga>Tga	p.R1923*		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1923	Ig-like C2-type 3.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TACTGGCCTCGATCTTGTACT	0.512000														0			29		0	0	0.001786	0	0
KIF26B	55083	broad.mit.edu	37	1	245848728	245848728	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:245848728G>A	uc001ibf.1	+	11	2883	c.2443G>A	c.(2443-2445)Ggg>Agg	p.G815R	KIF26B_uc001ibg.1_Missense_Mutation_p.G433R|KIF26B_uc001ibh.1_Missense_Mutation_p.G57R	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	Homo sapiens kinesin family member 26B (KIF26B), mRNA.	815					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.G815R(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CTCGTCCGGCGGGGAGAGCTC	0.647000														4			12		0	0	0.002450	0	0
NCKAP5	344148	broad.mit.edu	37	2	133539940	133539940	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:133539940C>T	uc002ttp.3	-	13	4818	c.4444G>A	c.(4444-4446)Gaa>Aaa	p.E1482K	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	1482							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TCCACATTTTCCTGAATGCAC	0.517000														26			19		0	0	0.001216	0	0
TBC1D1	23216	broad.mit.edu	37	4	38016501	38016501	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:38016501C>T	uc003gtb.3	+	2	1147	c.789C>T	c.(787-789)tcC>tcT	p.S263S	TBC1D1_uc011byd.2_Silent_p.S263S|TBC1D1_uc010ifd.3_Intron|TBC1D1_uc011byf.1_Silent_p.S134S	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	Homo sapiens TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 (TBC1D1), transcript variant 1, mRNA.	263	PID.					nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TCTTCAGCTCCTTCGAGGAGA	0.562000														16			5		0	0	0.000602	0	0
OR5P2	120065	broad.mit.edu	37	11	7818383	7818383	+	Missense_Mutation	SNP	G	A	A	rs138967151	by1000genomes	TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:7818383G>A	uc001mfp.1	-	0	107	c.107C>T	c.(106-108)tCt>tTt	p.S36F		NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 2 (OR5P2), mRNA.	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GAGATTACCAGATAGGATGAT	0.438000														15			8		0	0	0.004482	0	0
LCA5	167691	broad.mit.edu	37	6	80197313	80197313	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:80197313G>A	uc003piy.3	-	8	2114	c.1502C>T	c.(1501-1503)tCc>tTc	p.S501F	LCA5_uc003pix.3_Missense_Mutation_p.S501F	NM_181714	NP_859065	Q86VQ0	LCA5_HUMAN	Homo sapiens Leber congenital amaurosis 5 (LCA5), transcript variant 1, mRNA.	501					protein transport	cilium axoneme|microtubule basal body	protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		TCTCTCTGGGGAGTGTAGTTT	0.383000														55			33		0	0	0.005524	0	0
CFLAR	8837	broad.mit.edu	37	2	202000808	202000808	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:202000808A>T	uc002uxb.4	+	3	966	c.501A>T	c.(499-501)aaA>aaT	p.K167N	CFLAR_uc002uwy.3_Missense_Mutation_p.K167N|CFLAR_uc002uwz.3_Missense_Mutation_p.K167N|CFLAR_uc010zhk.2_Missense_Mutation_p.K71N|CFLAR_uc010zhl.2_Missense_Mutation_p.K71N|CFLAR_uc002uxc.4_Missense_Mutation_p.K167N|CFLAR_uc010fsw.2_Non-coding_Transcript|CFLAR_uc002uxd.4_Missense_Mutation_p.K167N|CFLAR_uc002uxe.2_Missense_Mutation_p.K167N|CFLAR_uc021vuw.1_Missense_Mutation_p.K167N|CFLAR_uc010fsx.3_Missense_Mutation_p.K167N|CFLAR_uc010fsy.3_Non-coding_Transcript|CFLAR_uc002uxf.3_Missense_Mutation_p.K167N|CFLAR_uc010zhm.2_Missense_Mutation_p.K71N|CFLAR_uc010fsz.3_5'UTR	NM_003879	NP_001189446	O15519	CFLAR_HUMAN	Homo sapiens CASP8 and FADD-like apoptosis regulator (CFLAR), transcript variant 1, mRNA.	167	DED 2.|Interaction with FADD.|Interaction with caspase-8 propeptide.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						TGAAGACAAAAATCCAGAAGT	0.418000														43			17		0	0	0.007413	0	0
CARD18	59082	broad.mit.edu	37	11	105009598	105009598	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:105009598A>T	uc021qpy.1	-	1	223	c.215T>A	c.(214-216)tTt>tAt	p.F72Y		NM_021571	NP_067546	P57730	CAR18_HUMAN	Homo sapiens caspase recruitment domain family, member 18 (CARD18), mRNA.	72	CARD.				inflammatory response|regulation of apoptosis	intracellular	cysteine-type endopeptidase inhibitor activity			central_nervous_system(1)|ovary(1)	2						ATGCTTGATAAATTTGCAGCA	0.428000														59			62		0	0	0.003610	0	0
PCDH15	65217	broad.mit.edu	37	10	55582826	55582826	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:55582826G>A	uc010qhy.1	-	34	5076	c.4681C>T	c.(4681-4683)Ccc>Tcc	p.P1561S	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_Intron|PCDH15_uc021pqw.1_Intron|PCDH15_uc010qht.2_Intron|PCDH15_uc021pqx.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.P1556S|PCDH15_uc021pqz.1_Missense_Mutation_p.P1531S|PCDH15_uc010qhv.1_Missense_Mutation_p.P1551S|PCDH15_uc010qhw.1_Missense_Mutation_p.P1514S|PCDH15_uc010qhx.1_Missense_Mutation_p.P1485S|PCDH15_uc010qhz.1_Missense_Mutation_p.P1556S|PCDH15_uc010qia.1_Missense_Mutation_p.P1534S|PCDH15_uc001jju.1_Missense_Mutation_p.P1554S|PCDH15_uc010qib.1_Missense_Mutation_p.P1531S	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1554					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGTATTTTGGGTGAAAATGGG	0.423000										HNSCC(58;0.16)				34			22		0	0	0.002780	0	0
PRADC1	84279	broad.mit.edu	37	2	73456686	73456686	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:73456686C>T	uc002siy.3	-	2	249	c.181G>A	c.(181-183)Gag>Aag	p.E61K		NM_032319	NP_115695	Q9BSG0	PADC1_HUMAN	Homo sapiens protease-associated domain containing 1 (PRADC1), mRNA.	61						extracellular region				endometrium(1)|large_intestine(1)|lung(2)	4						TGAATCTGCTCATACCTTGTG	0.507000														35			32		0	0	0.002445	0	0
IDO1	3620	broad.mit.edu	37	8	39780118	39780118	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:39780118G>A	uc003xnm.3	+	5	599	c.485G>A	c.(484-486)gGa>gAa	p.G162E		NM_002164	NP_002155	P14902	I23O1_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 1 (IDO1), mRNA.	162					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	TGCAGTAAAGGATTCTTCCTG	0.383000														2			14		0	0	0.007413	0	0
KDR	3791	broad.mit.edu	37	4	55955950	55955950	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:55955950C>T	uc003has.3	-	23	3514	c.3212G>A	c.(3211-3213)tGg>tAg	p.W1071*	KDR_uc003hat.1_Nonsense_Mutation_p.W1071*	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	1071	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TGGGGCCATCCATTTCAAAGG	0.423000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				48			23		0	0	0.002299	0	0
TNRC6B	23112	broad.mit.edu	37	22	40708540	40708540	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:40708540C>T	uc011aor.2	+	17	4678	c.4467C>T	c.(4465-4467)atC>atT	p.I1489I	TNRC6B_uc003aym.3_Silent_p.I685I|TNRC6B_uc003ayn.4_Silent_p.I1379I|TNRC6B_uc003ayo.3_Silent_p.I1236I	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	Homo sapiens trinucleotide repeat containing 6B (TNRC6B), transcript variant 1, mRNA.	1489					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	RNA binding|nucleotide binding			breast(1)	1						GGAAAGGTATCCAAAACATTG	0.433000														28			30		0	0	0.001512	0	0
C6orf222	389384	broad.mit.edu	37	6	36298049	36298049	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:36298049C>T	uc003oly.3	-	1	597	c.419G>A	c.(418-420)gGg>gAg	p.G140E		NM_001010903	NP_001010903	P0C671	CF222_HUMAN	Homo sapiens chromosome 6 open reading frame 222 (C6orf222), mRNA.	140										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						GGCTGGCTCCCCTGCTGCTTC	0.622000														33			33		0	0	0.003271	0	0
EIF4A2	1974	broad.mit.edu	37	3	186502263	186502263	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:186502263C>T	uc003fqs.3	+	1	111	c.72C>T	c.(70-72)atC>atT	p.I24I	EIF4A2_uc003fqu.3_Silent_p.I25I|EIF4A2_uc003fqv.3_5'UTR|EIF4A2_uc003fqw.3_5'UTR|SNORD2_uc010hyu.1_5'Flank|EIF4A2_uc011bsb.2_5'Flank|SNORA81_uc010hyv.2_5'Flank|SNORA63_uc010hyw.1_5'Flank	NM_001967	NP_001958	Q14240	IF4A2_HUMAN	Homo sapiens eukaryotic translation initiation factor 4A2 (EIF4A2), mRNA.	24					interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		ATGGTGTCATCGAGGTAAGAA	0.478000			T	BCL6	NHL									26			50		0	0	0.003610	0	0
RSF1	51773	broad.mit.edu	37	11	77388020	77388020	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:77388020G>A	uc001oyn.3	-	12	3278	c.3158C>T	c.(3157-3159)tCc>tTc	p.S1053F	RSF1_uc001oym.3_Missense_Mutation_p.S801F	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	Homo sapiens remodeling and spacing factor 1 (RSF1), mRNA.	1053					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TGTGATGGTGGAGATATCTTT	0.433000														52			32		0	0	0.006999	0	0
IFRD2	7866	broad.mit.edu	37	3	50326071	50326071	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:50326071G>A	uc003czb.3	-	12	1593	c.1593C>T	c.(1591-1593)caC>caT	p.H531H	IFRD2_uc011bdp.2_Silent_p.H429H	NM_006764	NP_006755	Q12894	IFRD2_HUMAN	Homo sapiens interferon-related developmental regulator 2 (IFRD2), mRNA.	429							binding			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CGTAGATCCGGTGCCGAGCCC	0.607000														13			8		0	0	0.004482	0	0
FBXO11	80204	broad.mit.edu	37	2	48036402	48036402	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:48036402T>A	uc002rwe.3	-	20	2523	c.2450A>T	c.(2449-2451)aAc>aTc	p.N817I	FBXO11_uc010fbl.3_Missense_Mutation_p.N733I|FBXO11_uc010fbk.3_Missense_Mutation_p.N241I	NM_001190274	NP_001177203	Q86XK2	FBX11_HUMAN	Homo sapiens F-box protein 11 (FBXO11), transcript variant 4, mRNA.	817					ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CATTATTTTGTTATCTGTAAT	0.279000			"""Mis, F, D"""		DLBCL									29			20		0	0	0.001216	0	0
CCR9	10803	broad.mit.edu	37	3	45936438	45936438	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:45936438G>A	uc003coz.2	+	1	193	c.13G>A	c.(13-15)Gac>Aac	p.D5N	LZTFL1_uc003coy.1_Intron|LZTFL1_uc011bak.1_Intron|CCR9_uc010hiv.2_5'UTR|CCR9_uc003cpa.2_Intron	NM_031200	NP_006632	P51686	CCR9_HUMAN	Homo sapiens chemokine (C-C motif) receptor 9 (CCR9), transcript variant A, mRNA.	5					cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane				breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		GACACCCACAGACTTCACAGT	0.493000														56			27		0	0	0.002096	0	0
COX4I2	84701	broad.mit.edu	37	20	30226841	30226841	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:30226841G>A	uc002wwj.1	+	1	96	c.21G>A	c.(19-21)tgG>tgA	p.W7*		NM_032609	NP_115998	Q96KJ9	COX42_HUMAN	Homo sapiens cytochrome c oxidase subunit IV isoform 2 (lung) (COX4I2), nuclear gene encoding mitochondrial protein, mRNA.	7					cellular respiration		cytochrome-c oxidase activity			breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	11	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			GAGCTGCCTGGAGCTTGGTGC	0.592000														14			11		0	0	0.002450	0	0
MPP7	143098	broad.mit.edu	37	10	28409238	28409238	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:28409238T>G	uc001iua.1	-	11	1176	c.772A>C	c.(772-774)Aag>Cag	p.K258Q	MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Missense_Mutation_p.K258Q|MPP7_uc009xla.2_Missense_Mutation_p.K258Q|MPP7_uc010qdv.1_Non-coding_Transcript	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.	258	SH3.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						ATATCTCCCTTTTTGAAAGAA	0.428000														35			30		0	0	0.006999	0	0
ANPEP	290	broad.mit.edu	37	15	90335500	90335500	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:90335500C>T	uc002bop.4	-	17	2711	c.2419G>A	c.(2419-2421)Gag>Aag	p.E807K		NM_001150	NP_001141	P15144	AMPN_HUMAN	Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA.	807	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	ER-Golgi intermediate compartment|cytosol|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	TCCCACTCCTCCTCCCCGCCC	0.632000														74			22		0	0	0.003330	0	0
PHLDB2	90102	broad.mit.edu	37	3	111688687	111688687	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:111688687A>T	uc010hqa.3	+	15	3877	c.3466A>T	c.(3466-3468)Aaa>Taa	p.K1156*	PHLDB2_uc003dyc.3_Nonsense_Mutation_p.K1140*|PHLDB2_uc003dyd.3_Nonsense_Mutation_p.K1113*|PHLDB2_uc003dyg.3_Nonsense_Mutation_p.K1156*|PHLDB2_uc003dyh.3_Nonsense_Mutation_p.K1113*|PHLDB2_uc003dyi.3_Nonsense_Mutation_p.K647*|PHLDB2_uc003dyj.3_Nonsense_Mutation_p.K211*	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	1156	PH.					cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AATGGGTGGGAAAATTAAAAC	0.413000														14			19		0	0	0.001523	0	0
KIAA0240	23506	broad.mit.edu	37	6	42797892	42797892	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:42797892G>A	uc003osn.1	+	5	1972	c.1821G>A	c.(1819-1821)caG>caA	p.Q607Q	KIAA0240_uc003osm.1_Silent_p.Q607Q|KIAA0240_uc011duw.1_Silent_p.Q607Q|KIAA0240_uc003oso.1_Silent_p.Q607Q|KIAA0240_uc003osp.1_Silent_p.Q607Q	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	Homo sapiens KIAA0240 (KIAA0240), mRNA.	607										NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(3)|skin(3)	44	Colorectal(47;0.196)		Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)			CAGGAACCCAGCAACAATTCT	0.398000														18			15		0	0	0.004007	0	0
OR4C15	81309	broad.mit.edu	37	11	55322441	55322441	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:55322441C>T	uc010rig.2	+	0	659	c.659C>T	c.(658-660)cCc>cTc	p.P220L		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TTCCAGCTTCCCTTTTGTGGC	0.483000										HNSCC(20;0.049)				3			3		0	0	0.004672	0	0
BTNL8	79908	broad.mit.edu	37	5	180377460	180377460	+	Silent	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:180377460A>G	uc003mmp.3	+	7	1653	c.1419A>G	c.(1417-1419)caA>caG	p.Q473Q	BTNL8_uc003mmq.3_3'UTR|BTNL8_uc010jll.3_3'UTR|BTNL8_uc011dhg.2_Silent_p.Q348Q|BTNL8_uc010jlm.3_Silent_p.Q357Q|BTNL8_uc011dhh.2_Silent_p.Q289Q	NM_001040462	NP_001153182	Q6UX41	BTNL8_HUMAN	Homo sapiens butyrophilin-like 8 (BTNL8), transcript variant 2, mRNA.	473						integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTCTTGGCAAAGGGCCTCTG	0.522000														64			57		0	0	0.003610	0	0
NIPBL	25836	broad.mit.edu	37	5	36984867	36984867	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:36984867G>C	uc003jkl.4	+	9	2084	c.1585G>C	c.(1585-1587)Ggt>Cgt	p.G529R	NIPBL_uc003jkk.4_Missense_Mutation_p.G529R|NIPBL_uc003jkm.1_Missense_Mutation_p.G408R	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	529					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	p.T528T(1)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TCAGGAGACGGGTTCTACGGG	0.448000														47			34		0	0	0.005524	0	0
CCDC14	64770	broad.mit.edu	37	3	123633735	123633735	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:123633735G>T	uc011bjx.2	-	12	2844	c.2753C>A	c.(2752-2754)tCa>tAa	p.S918*	CCDC14_uc003egv.4_Nonsense_Mutation_p.S559*|CCDC14_uc003egx.4_Nonsense_Mutation_p.S718*|CCDC14_uc010hrt.3_Nonsense_Mutation_p.S877*|CCDC14_uc003egy.4_Nonsense_Mutation_p.S718*|CCDC14_uc003egz.2_3'UTR	NM_022757	NP_073594	Q49A88	CCD14_HUMAN	Homo sapiens coiled-coil domain containing 14 (CCDC14), mRNA.	918						centrosome				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		AGTGAACGTTGAAAACGAAGA	0.443000														13			9		7.48243e-07	1.03427e-06	0.006214	1	0
BANK1	55024	broad.mit.edu	37	4	102776332	102776332	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:102776332G>A	uc003hvy.4	+	2	884	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K	BANK1_uc003hvx.4_Missense_Mutation_p.E189K|BANK1_uc010ill.3_Missense_Mutation_p.E71K|BANK1_uc003hvz.4_Missense_Mutation_p.E174K	NM_017935	NP_001077376	Q8NDB2	BANK1_HUMAN	Homo sapiens B-cell scaffold protein with ankyrin repeats 1 (BANK1), transcript variant 1, mRNA.	204	DBB.				B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		GCTTCCCACTGAAATTCCATG	0.428000														33			21		0	0	0.002780	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138444555	138444555	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:138444555C>T	uc003vuf.3	-	6	819	c.581G>A	c.(580-582)cGa>cAa	p.R194Q	ATP6V0A4_uc003vug.3_Missense_Mutation_p.R194Q|ATP6V0A4_uc003vuh.3_Missense_Mutation_p.R194Q	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA.	194					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CACGTTTCCTCGGCAGATTCG	0.527000														28			27		0	0	0.004656	0	0
C20orf151	140893	broad.mit.edu	37	20	60990934	60990934	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:60990934G>A	uc002ycw.2	-	6	651	c.454C>T	c.(454-456)Cct>Tct	p.P152S		NM_080833	NP_543023	Q8NC74	CT151_HUMAN	Homo sapiens chromosome 20 open reading frame 151 (C20orf151), mRNA.	152										large_intestine(3)|lung(3)|prostate(1)|skin(4)|stomach(1)	12	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;6.43e-06)			CAGCCACCAGGGGAGGGGAGC	0.697000														7			8		0	0	0.004482	0	0
MYPN	84665	broad.mit.edu	37	10	69926384	69926384	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:69926384C>T	uc001jnm.4	+	10	2119	c.1934C>T	c.(1933-1935)cCc>cTc	p.P645L	MYPN_uc001jnl.1_Missense_Mutation_p.P645L|MYPN_uc001jnn.4_Missense_Mutation_p.P370L|MYPN_uc001jno.4_Missense_Mutation_p.P645L|MYPN_uc009xps.3_Missense_Mutation_p.P645L|MYPN_uc009xpt.3_Missense_Mutation_p.P645L|MYPN_uc010qit.2_Missense_Mutation_p.P351L|MYPN_uc010qiu.2_Non-coding_Transcript	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	Homo sapiens myopalladin (MYPN), transcript variant 1, mRNA.	645						nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						CCTTCTTCCCCCGTGAAAGAG	0.512000														20			20		0	0	0.007413	0	0
ABCA12	26154	broad.mit.edu	37	2	215884292	215884292	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:215884292G>A	uc002vew.3	-	11	1736	c.1516C>T	c.(1516-1518)Cca>Tca	p.P506S	ABCA12_uc002vev.3_Missense_Mutation_p.P188S|ABCA12_uc010zjn.2_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	506					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ATTTTGCTTGGATCTCCAGTC	0.368000														18			18		0	0	0.001216	0	0
FAM90A1	55138	broad.mit.edu	37	12	8374676	8374676	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:8374676G>A	uc001qui.2	-	6	1696	c.1137C>T	c.(1135-1137)tcC>tcT	p.S379S	FAM90A1_uc001quh.2_Silent_p.S379S	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN	Homo sapiens family with sequence similarity 90, member A1 (FAM90A1), mRNA.	379							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		CTGGGTGATGGGACATGGTGC	0.672000														19			15		0	0	0.004990	0	0
HSPG2	3339	broad.mit.edu	37	1	22168862	22168862	+	Silent	SNP	G	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:22168862G>T	uc009vqd.3	-	67	8965	c.8925C>A	c.(8923-8925)tcC>tcA	p.S2975S	HSPG2_uc001bfj.3_Silent_p.S2974S	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	2974	Ig-like C2-type 15.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GCCGCAGCTGGGAGCCATGGG	0.617000														4			9		1.58986e-06	2.19684e-06	0.000673	1	0
STYK1	55359	broad.mit.edu	37	12	10783813	10783813	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:10783813G>A	uc001qys.2	-	4	803	c.282C>T	c.(280-282)aaC>aaT	p.N94N		NM_018423	NP_060893	Q6J9G0	STYK1_HUMAN	Homo sapiens serine/threonine/tyrosine kinase 1 (STYK1), mRNA.	94						integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						CTCCCAGAAAGTTTTCCACGG	0.557000										HNSCC(73;0.22)				29			18		0	0	0.006122	0	0
TTN	7273	broad.mit.edu	37	2	179575621	179575621	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:179575621G>A	uc021vsy.1	-	94	24696	c.24471C>T	c.(24469-24471)atC>atT	p.I8157I	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.I4818I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9084	Ig-like 64.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGCAAGACGGATGTCAAAGA	0.488000														16			10		0	0	0.000673	0	0
CALCRL	10203	broad.mit.edu	37	2	188248013	188248013	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:188248013A>G	uc010frt.3	-	3	454	c.71T>C	c.(70-72)tTa>tCa	p.L24S	CALCRL_uc002upv.4_Missense_Mutation_p.L24S	NM_005795	NP_005786	Q16602	CALRL_HUMAN	Homo sapiens calcitonin receptor-like (CALCRL), mRNA.	24						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			ACTCTCTTCTAATTCTGCTGT	0.348000														14			8		0	0	0.003080	0	0
SLC12A5	57468	broad.mit.edu	37	20	44678397	44678397	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:44678397G>A	uc010zxl.1	+	16	2294	c.2218G>A	c.(2218-2220)Gaa>Aaa	p.E740K	SLC12A5_uc010zxm.1_Non-coding_Transcript|SLC12A5_uc002xrb.2_Missense_Mutation_p.E717K	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	740					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CACCTTTCTGGAAAATCATCC	0.582000														12			11		0	0	0.000673	0	0
ZNF568	374900	broad.mit.edu	37	19	37428067	37428067	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:37428067C>T	uc002ofc.3	+	5	799	c.281C>T	c.(280-282)cCg>cTg	p.P94L	ZNF568_uc010efg.3_Missense_Mutation_p.P94L|ZNF568_uc010xtn.2_Missense_Mutation_p.P30L|ZNF568_uc021uts.1_Missense_Mutation_p.P94L|ZNF568_uc002ofd.3_Missense_Mutation_p.P30L|ZNF568_uc010efe.3_Missense_Mutation_p.P30L|ZNF568_uc010eff.2_Missense_Mutation_p.P80L	NM_198539	NP_001191766	Q3ZCX4	ZN568_HUMAN	Homo sapiens zinc finger protein 568 (ZNF568), transcript variant 1, mRNA.	94	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTCACCAAACCGGATGTGATA	0.463000														41			29		0	0	0.002096	0	0
CENPF	1063	broad.mit.edu	37	1	214837042	214837042	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:214837042C>T	uc001hkm.3	+	19	9424	c.9250C>T	c.(9250-9252)Ccc>Tcc	p.P3084S		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	3180	Sufficient for centromere localization.|Sufficient for nuclear localization.				DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GACTGACAGCCCCAGAGAGGG	0.582000														6			22		0	0	0.001523	0	0
IRAK1BP1	134728	broad.mit.edu	37	6	79607566	79607566	+	Silent	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:79607566A>G	uc003pim.3	+	2	507	c.402A>G	c.(400-402)gaA>gaG	p.E134E	IRAK1BP1_uc010kbg.1_Non-coding_Transcript|IRAK1BP1_uc003pin.2_Silent_p.E47E	NM_001010844	NP_001010844	Q5VVH5	IKBP1_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 1 binding protein 1 (IRAK1BP1), mRNA.	134					I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(3)	12		all_cancers(76;0.0398)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)		BRCA - Breast invasive adenocarcinoma(397;0.21)		CATTTACTGAATTTGGAAAAA	0.333000														11			11		0	0	0.000673	0	0
FMN2	56776	broad.mit.edu	37	1	240255924	240255924	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:240255924G>A	uc010pye.2	+	0	740	c.515G>A	c.(514-516)gGa>gAa	p.G172E	FMN2_uc010pyd.2_Missense_Mutation_p.G172E	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	172					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GCGCAGGATGGACAAAGGACC	0.632000														41			15		0	0	0.004007	0	0
SLC2A9	56606	broad.mit.edu	37	4	9836517	9836517	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:9836517G>A	uc003gmc.3	-	10	1468	c.1407C>T	c.(1405-1407)ttC>ttT	p.F469F	SLC2A9_uc003gmd.3_Silent_p.F440F	NM_020041	NP_064425	Q9NRM0	GTR9_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 9 (SLC2A9), transcript variant 1, mRNA.	469					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						GAATGAATGGGAAGAGGAGCC	0.512000														21			4		0	0	0.000248	0	0
GPC6	10082	broad.mit.edu	37	13	95055327	95055328	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:95055327_95055328GG>AA	uc001vlt.3	+	8	2156_2157	c.1524_1525GG>AA	c.(1522-1527)acggag>acAAag	p.E509K		NM_005708	NP_005699	Q9Y625	GPC6_HUMAN	Homo sapiens glypican 6 (GPC6), mRNA.	509						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				TGTGTCCCACGGAGTTTGAGTT	0.559000														69			65		0	0	0.004672	0	0
CREB3L1	90993	broad.mit.edu	37	11	46341928	46341928	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:46341928C>T	uc021qil.1	+	10	1807	c.1372C>T	c.(1372-1374)Ccg>Tcg	p.P458S	CREB3L1_uc021qik.1_Missense_Mutation_p.P458S|CREB3L1_uc001ncg.3_Missense_Mutation_p.P92S	NM_052854	NP_443086	Q96BA8	CR3L1_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 1 (CREB3L1), mRNA.	458					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		CCCCGGGGGGCCGGCAGAGCA	0.647000			T	FUS	myxofibrosarcoma									2			6		0	0	0.001984	0	0
PACSIN2	11252	broad.mit.edu	37	22	43287041	43287041	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:43287041T>C	uc010gzg.3	-	3	587	c.365A>G	c.(364-366)aAg>aGg	p.K122R	PACSIN2_uc003bdg.4_Missense_Mutation_p.K122R|PACSIN2_uc003bdf.4_Missense_Mutation_p.K122R	NM_007229	NP_009160	Q9UNF0	PACN2_HUMAN	Homo sapiens protein kinase C and casein kinase substrate in neurons 2 (PACSIN2), transcript variant 2, mRNA.	122					actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				CATCATCTGCTTGTGAAAGGC	0.552000														25			21		0	0	0.002299	0	0
UGT3A2	167127	broad.mit.edu	37	5	36039616	36039616	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:36039616C>T	uc003jjz.2	-	4	1170	c.1038G>A	c.(1036-1038)gtG>gtA	p.V346V	UGT3A2_uc011cos.2_Silent_p.V312V|UGT3A2_uc011cot.2_Silent_p.V44V	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	346						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCACAATTTTCACATTTGCAG	0.532000														37			26		0	0	0.001786	0	0
RNF44	22838	broad.mit.edu	37	5	175957085	175957085	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:175957085G>A	uc003mek.1	-	6	1449	c.924C>T	c.(922-924)ttC>ttT	p.F308F	RNF44_uc011dfo.1_Silent_p.F216F|RNF44_uc003mel.1_5'Flank	NM_014901	NP_055716	Q7L0R7	RNF44_HUMAN	Homo sapiens ring finger protein 44 (RNF44), mRNA.	308	Pro-rich.						zinc ion binding			endometrium(2)|lung(3)|prostate(1)|skin(1)|stomach(1)	8	all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATACTTACAGGAAGTAGGGCA	0.652000														9			4		0	0	0.000248	0	0
CEP112	201134	broad.mit.edu	37	17	64059110	64059110	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:64059110C>T	uc002jfl.3	-	10	1264	c.1045G>A	c.(1045-1047)Gaa>Aaa	p.E349K	CEP112_uc010deo.3_Missense_Mutation_p.E91K|CEP112_uc002jfm.3_Missense_Mutation_p.E349K|CEP112_uc010dep.2_Missense_Mutation_p.E307K	NM_145036	NP_659473	Q8N8E3	CE112_HUMAN	Homo sapiens centrosomal protein 112kDa (CEP112), transcript variant 1, mRNA.	349						centrosome				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						TTTAGAGATTCCGTACTTTGT	0.313000														22			14		0	0	0.002450	0	0
C4BPA	722	broad.mit.edu	37	1	207307782	207307782	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:207307782G>A	uc001hfo.3	+	8	1312	c.1118G>A	c.(1117-1119)gGt>gAt	p.G373D		NM_000715	NP_000706	P04003	C4BPA_HUMAN	Homo sapiens complement component 4 binding protein, alpha (C4BPA), mRNA.	373	Sushi 6.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						CTAAATAATGGTGAAATCACT	0.383000														30			42		0	0	0.003610	0	0
UBE4B	10277	broad.mit.edu	37	1	10190589	10190589	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:10190589C>T	uc021ogc.1	+	13	2568	c.1880C>T	c.(1879-1881)tCc>tTc	p.S627F	UBE4B_uc001aqs.4_Missense_Mutation_p.S576F|UBE4B_uc001aqr.4_Missense_Mutation_p.S447F|UBE4B_uc010oai.2_Non-coding_Transcript|UBE4B_uc010oaj.2_Missense_Mutation_p.S31F	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	Homo sapiens ubiquitination factor E4B (UBE4B), transcript variant 1, mRNA.	576					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TTGCCGAAATCCTTAAGTCCT	0.488000														43			95		0	0	0.003610	0	0
OR9I1	219954	broad.mit.edu	37	11	57886267	57886267	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:57886267G>A	uc001nml.1	-	0	650	c.650C>T	c.(649-651)tCc>tTc	p.S217F	OR9Q1_uc001nmj.3_Intron	NM_001005211	NP_001005211	Q8NGQ6	OR9I1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily I, member 1 (OR9I1), mRNA.	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				GAGCAGATAGGAAATCAGGAT	0.473000														8			16		0	0	0.007413	0	0
SPATA16	83893	broad.mit.edu	37	3	172674602	172674602	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:172674602C>T	uc003fin.4	-	5	1130	c.946G>A	c.(946-948)Gaa>Aaa	p.E316K		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	Homo sapiens spermatogenesis associated 16 (SPATA16), mRNA.	316					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			GTGATGGCTTCCTCAATCATG	0.328000														15			5		0	0	0.001984	0	0
LOC644936	644936	broad.mit.edu	37	5	79595557	79595557	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:79595557C>T	uc010jai.3	-	0	741	c.600G>A	c.(598-600)tgG>tgA	p.W200*						Homo sapiens actin, beta pseudogene (LOC644936), non-coding RNA.																		GCTTGCTGATCCACATCTGCT	0.517000														30			17		0	0	0.006122	0	0
FCRLA	84824	broad.mit.edu	37	1	161681133	161681133	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:161681133G>A	uc001gbe.3	+	3	679	c.437G>A	c.(436-438)gGg>gAg	p.G146E	FCRLA_uc001gbg.3_Intron|FCRLA_uc009wup.3_Intron|FCRLA_uc009wuq.3_Intron|FCRLA_uc001gbd.3_Missense_Mutation_p.G140E|FCRLA_uc001gbf.3_Intron|FCRLA_uc009wuo.3_Intron	NM_001184866	NP_001171795	Q7L513	FCRLA_HUMAN	Homo sapiens Fc receptor-like A (FCRLA), transcript variant 1, mRNA.	123	Ig-like C2-type 1.				cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			GGTCCCCCCGGGCCTAACAGG	0.602000														28			4		0	0	0.000248	0	0
C2orf71	388939	broad.mit.edu	37	2	29294603	29294603	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:29294603G>A	uc002rmt.2	-	0	2525	c.2525C>T	c.(2524-2526)tCa>tTa	p.S842L		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	842					response to stimulus|visual perception	photoreceptor outer segment		p.K841K(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						AGAAGCGAATGATTTGTCCAT	0.582000														82			61		0	0	0.003610	0	0
DDC	1644	broad.mit.edu	37	7	50611728	50611728	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:50611728T>C	uc003tpg.4	-	1	257	c.56A>G	c.(55-57)aAc>aGc	p.N19S	DDC_uc022ade.1_Missense_Mutation_p.N19S|DDC_uc003tpf.4_Missense_Mutation_p.N19S|DDC_uc022adb.1_Missense_Mutation_p.N19S|DDC_uc022adc.1_Missense_Mutation_p.N19S|DDC_uc022add.1_Missense_Mutation_p.N19S|DDC_uc022adf.1_Missense_Mutation_p.N19S	NM_001082971	NP_001076440	P20711	DDC_HUMAN	Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA.	19					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	TTCCATGTAGTTGGCCATGTA	0.572000														6			61		0	0	0.003610	0	0
TMEM74	157753	broad.mit.edu	37	8	109796663	109796663	+	Missense_Mutation	SNP	G	C	C	rs61753521		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:109796663G>C	uc003ymy.1	-	1	770	c.665C>G	c.(664-666)gCg>gGg	p.A222G	TMEM74_uc003ymx.3_Intron|TMEM74_uc022azr.1_Missense_Mutation_p.A222G	NM_153015	NP_694560	Q96NL1	TMM74_HUMAN	Homo sapiens transmembrane protein 74 (TMEM74), mRNA.	222					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			CCCCAGCCTCGCACTCTCCTT	0.612000														15			9		0	0	0.006214	0	0
GALNT4	8693	broad.mit.edu	37	12	89917436	89917437	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:89917436_89917437CC>TT	uc001tbd.3	-	0	1147_1148	c.890_891GG>AA	c.(889-891)cgg>cAA	p.R297Q	GALNT4_uc001tba.3_Intron|GALNT4_uc001tbb.3_Intron|GALNT4_uc010sun.2_Intron|GALNT4_uc001tbc.3_Intron|GALNT4_uc001tbe.3_Missense_Mutation_p.R294Q|GALNT4_uc010suo.2_Missense_Mutation_p.R125Q	NM_003774	NP_003765	Q8N4A0	GALT4_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 (GalNAc-T4) (GALNT4), mRNA.	297					carbohydrate metabolic process	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.R297R(2)		endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)	14						TTCTTGATATCCGCCTGTCCCT	0.455000														35			10		0	0	0.004672	0	0
BTRC	8945	broad.mit.edu	37	10	103310563	103310563	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:103310563C>T	uc001kta.3	+	13	1877	c.1764C>T	c.(1762-1764)gcC>gcT	p.A588A	BTRC_uc001ktb.3_Silent_p.A552A|BTRC_uc001ktc.3_Silent_p.A562A	NM_033637	NP_378663	Q9Y297	FBW1A_HUMAN	Homo sapiens beta-transducin repeat containing (BTRC), transcript variant 1, mRNA.	588					Wnt receptor signaling pathway|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction	SCF ubiquitin ligase complex|cytosol|nucleus				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		ATCCAGCTGCCCAAGCTGAAC	0.453000														39			37		0	0	0.006999	0	0
ETS1	2113	broad.mit.edu	37	11	128332386	128332386	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:128332386T>A	uc010sbs.1	-	7	1512	c.1196A>T	c.(1195-1197)aAa>aTa	p.K399I	ETS1_uc001qej.2_Missense_Mutation_p.K443I|ETS1_uc009zch.2_Missense_Mutation_p.K183I|ETS1_uc009zcg.2_3'UTR	NM_005238	NP_005229	P14921	ETS1_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog 1 (avian) (ETS1), transcript variant 2, mRNA.	399					PML body organization|cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		GATGATGTTTTTGTCGTAATA	0.498000														29			18		0	0	0.001882	0	0
CNGB3	54714	broad.mit.edu	37	8	87645075	87645075	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:87645075C>T	uc003ydx.3	-	10	1273	c.1225G>A	c.(1225-1227)Ggt>Agt	p.G409S	CNGB3_uc010maj.3_Missense_Mutation_p.G271S	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	409					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						GGAAGGCCACCAATGGTAATT	0.328000														13			12		0	0	0.001855	0	0
CARD6	84674	broad.mit.edu	37	5	40852977	40852977	+	Missense_Mutation	SNP	G	A	A	rs76751505	by1000genomes	TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:40852977G>A	uc003jmg.3	+	2	1618	c.1543G>A	c.(1543-1545)Gat>Aat	p.D515N		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.	515					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TCCTGATAGCGATGATAGAAA	0.413000														34			34		0	0	0.003271	0	0
KLHL18	23276	broad.mit.edu	37	3	47371613	47371613	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:47371613G>A	uc003crd.3	+	3	700	c.574G>A	c.(574-576)Gag>Aag	p.E192K	KLHL18_uc003crc.2_Missense_Mutation_p.E192K|KLHL18_uc011bav.2_Missense_Mutation_p.E80K|KLHL18_uc010hjq.2_Missense_Mutation_p.E43K	NM_025010	NP_079286	O94889	KLH18_HUMAN	Homo sapiens kelch-like 18 (Drosophila) (KLHL18), mRNA.	192	BACK.							p.E192A(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		GTCTCGGGATGAGCTGAATGT	0.498000														11			13		0	0	0.002450	0	0
ZNF624	57547	broad.mit.edu	37	17	16537259	16537259	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:16537259G>A	uc010cpi.2	-	4	385	c.293C>T	c.(292-294)tCc>tTc	p.S98F		NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN	Homo sapiens zinc finger protein 624 (ZNF624), mRNA.	98	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GTCTGGTTTGGAAACTGCAAG	0.428000														13			17		0	0	0.001882	0	0
PIGZ	80235	broad.mit.edu	37	3	196678714	196678714	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:196678714G>A	uc003fxh.3	-	1	336	c.189C>T	c.(187-189)ttC>ttT	p.F63F		NM_025163	NP_079439	Q86VD9	PIGZ_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class Z (PIGZ), mRNA.	63					GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		CAGGGGACTGGAAGAACTCAT	0.577000														6			8		0	0	0.000978	0	0
NLRP10	338322	broad.mit.edu	37	11	7981922	7981922	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:7981922G>A	uc001mfv.1	-	1	1254	c.1237C>T	c.(1237-1239)Ctg>Ttg	p.L413L		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	413	NACHT.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGGGAGCACAGACTCCTCAGG	0.542000														26			14		0	0	0.001855	0	0
C20orf152	140894	broad.mit.edu	37	20	34572684	34572684	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:34572684C>T	uc002xer.1	+	5	856	c.700C>T	c.(700-702)Cgg>Tgg	p.R234W	C20orf152_uc002xes.1_Missense_Mutation_p.R234W|C20orf152_uc010gfp.1_Non-coding_Transcript	NM_080834	NP_543024	Q96M20	CT152_HUMAN	Homo sapiens chromosome 20 open reading frame 152 (C20orf152), transcript variant 1, mRNA.	234										breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)	18	Breast(12;0.00631)					TGCTCAGTATCGGTTTGAATT	0.448000														44			40		0	0	0.003610	0	0
MYO5B	4645	broad.mit.edu	37	18	47480803	47480803	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:47480803G>A	uc002leb.2	-	12	1836	c.1548C>T	c.(1546-1548)gtC>gtT	p.V516V	MYO5B_uc021ukb.1_Silent_p.V515V	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	516	Myosin head-like.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TTCCTTTGGGGACCTGCAGAA	0.572000														11			14		0	0	0.003163	0	0
CNGA1	1259	broad.mit.edu	37	4	47945274	47945274	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:47945274C>T	uc003gxu.3	-	6	721	c.580G>A	c.(580-582)Gac>Aac	p.D194N	BC041434_uc003gxr.1_Intron|CNGA1_uc003gxt.4_Missense_Mutation_p.D125N|CNGA1_uc003gxv.1_Missense_Mutation_p.D125N	NM_001142564	NP_000078	P29973	CNGA1_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 1 (CNGA1), transcript variant 1, mRNA.	125					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						ttctctGGGTCGTTTTTATTT	0.313000														2			4		0	0	0.000248	0	0
ACSM5	54988	broad.mit.edu	37	16	20430623	20430623	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:20430623C>T	uc002dhe.3	+	3	636	c.489C>T	c.(487-489)gcC>gcT	p.A163A	ACSM5_uc002dhd.1_Silent_p.A163A	NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 5 (ACSM5), mRNA.	163					fatty acid metabolic process	mitochondrial matrix	ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						CGTCCAGGGCCAAGTCCATTA	0.567000														23			21		0	0	0.001216	0	0
TTN	7273	broad.mit.edu	37	2	179665387	179665387	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:179665387G>A	uc021vsy.1	-	3	543	c.318C>T	c.(316-318)ttC>ttT	p.F106F	TTN_uc021vsz.1_Silent_p.F106F|TTN_uc021vta.1_Silent_p.F106F|TTN_uc021vtb.1_Silent_p.F106F|TTN_uc002unb.2_Silent_p.F106F|TTN_uc002und.3_Silent_p.F106F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	106	Ig-like 2.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.F106F(5)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCGTTGAACGAAGTTGGGTG	0.512000														24			8		0	0	0.006214	0	0
ZBTB16	7704	broad.mit.edu	37	11	114113047	114113047	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:114113047C>T	uc001pop.3	+	4	1876	c.1612C>T	c.(1612-1614)Cgc>Tgc	p.R538C	ZBTB16_uc001poq.3_Missense_Mutation_p.R538C	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	Homo sapiens zinc finger and BTB domain containing 16 (ZBTB16), transcript variant 1, mRNA.	538					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	PML body|nuclear speck|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		ACGCCACCTGCGCTCACATAC	0.597000														15			7		0	0	0.004482	0	0
KCNJ1	3758	broad.mit.edu	37	11	128710121	128710121	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:128710121C>T	uc001qeo.1	-	1	126	c.75G>A	c.(73-75)cgG>cgA	p.R25R	KCNJ1_uc001qep.1_Silent_p.R6R|KCNJ1_uc001qeq.1_Silent_p.R6R|KCNJ1_uc001qer.1_Silent_p.R6R|KCNJ1_uc001qes.1_Silent_p.R6R|KCNJ1_uc021qsb.1_Silent_p.R6R	NM_000220	NP_000211	P48048	IRK1_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 1 (KCNJ1), transcript variant rom-k1, mRNA.	25					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	CGACCCATTTCCGAAGATGTT	0.408000														15			23		0	0	0.003330	0	0
NIPSNAP3B	55335	broad.mit.edu	37	9	107521577	107521577	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:107521577G>A	uc004bch.1	+	5	807	c.702G>A	c.(700-702)caG>caA	p.Q234Q	NIPSNAP3B_uc011lvt.2_3'UTR|NIPSNAP3B_uc011lvu.1_Intron	NM_015469	NP_056284	Q9BS92	NPS3B_HUMAN	Homo sapiens nipsnap homolog 3A (C. elegans) (NIPSNAP3A), mRNA.	234								p.Q234Q(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	11						TATCTCAGCAGAATATGCTTC	0.338000														33			9		0	0	0.000978	0	0
PDZD2	23037	broad.mit.edu	37	5	32088277	32088277	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:32088277G>A	uc003jhl.3	+	19	5111	c.4723G>A	c.(4723-4725)Gac>Aac	p.D1575N	PDZD2_uc003jhm.3_Missense_Mutation_p.D1575N	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	1575					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TTCTGCCAGGGACGGCTGGTC	0.557000														40			39		0	0	0.002522	0	0
MYO5B	4645	broad.mit.edu	37	18	47479645	47479645	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:47479645G>A	uc002leb.2	-	13	2025	c.1737C>T	c.(1735-1737)atC>atT	p.I579I	MYO5B_uc021ukb.1_Silent_p.I578I	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	579	Myosin head-like.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TGGCCTTCAGGATATTGATCT	0.537000														25			30		0	0	0.002445	0	0
DGKG	1608	broad.mit.edu	37	3	185993452	185993452	+	Splice_Site	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:185993452C>T	uc003fqa.3	-	10	1330	c.793_splice	c.e10-1	p.G265_splice	DGKG_uc003fqb.3_Splice_Site_p.G265_splice|DGKG_uc003fqc.3_Splice_Site_p.G265_splice|DGKG_uc011brx.2_Splice_Site_p.G265_splice	NM_001346	NP_001337	P49619	DGKG_HUMAN	Homo sapiens diacylglycerol kinase, gamma 90kDa (DGKG), transcript variant 1, mRNA.	265					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CCCCTTGGAGCCCTGCAGGGG	0.557000														17			7		0	0	0.001984	0	0
LINC00477	144360	broad.mit.edu	37	12	24736446	24736446	+	RNA	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:24736446G>A	uc001rgb.1	-	0		c.657C>T								Homo sapiens long intergenic non-protein coding RNA 477 (LINC00477), non-coding RNA.																		GTGGGCAGAAGAAAAGGAAGT	0.552000														6			10		0	0	0.006214	0	0
LPPR2	64748	broad.mit.edu	37	19	11470540	11470540	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:11470540C>T	uc002mrf.2	+	4	600	c.224C>T	c.(223-225)cCt>cTt	p.P75L	LPPR2_uc002mre.2_Missense_Mutation_p.P100L|LPPR2_uc010dxy.2_5'UTR|Prion_pknot_uc021uph.1_5'Flank	NM_001170635	NP_001164106	Q96GM1	LPPR2_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 2 (LPPR2), transcript variant 2, mRNA.	100						integral to membrane	phosphatidate phosphatase activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	6						CCTGCACCACCTTCAGCCGTC	0.647000														18			11		0	0	0.000978	0	0
CSTA	1475	broad.mit.edu	37	3	122044184	122044184	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:122044184A>C	uc003eex.3	+	0	174	c.45A>C	c.(43-45)gaA>gaC	p.E15D		NM_005213	NP_005204	P01040	CYTA_HUMAN	Homo sapiens cystatin A (stefin A) (CSTA), mRNA.	15					keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity|protease binding|protein binding, bridging|structural molecule activity			large_intestine(2)|lung(2)	4				GBM - Glioblastoma multiforme(114;0.155)		CCACTCCAGAAATCCAGGAGA	0.463000														12			18		0	0	0.003755	0	0
VPS53	55275	broad.mit.edu	37	17	602612	602612	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:602612C>T	uc010cjo.2	-	2	324	c.177G>A	c.(175-177)gcG>gcA	p.A59A	VPS53_uc002frl.2_Non-coding_Transcript|VPS53_uc002frm.2_Silent_p.A59A|VPS53_uc002frn.2_Silent_p.A59A|VPS53_uc002fro.2_5'UTR|VPS53_uc010cjp.1_Silent_p.A59A	NM_001128159	NP_001121631	Q5VIR6	VPS53_HUMAN	Homo sapiens vacuolar protein sorting 53 homolog (S. cerevisiae) (VPS53), transcript variant 1, mRNA.	59					protein transport	Golgi apparatus|endosome membrane				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		CGTCTATGTTCGCCAGAGACT	0.353000														24			31		0	0	0.004878	0	0
SULT1A1	6817	broad.mit.edu	37	16	28619821	28619821	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:28619821G>A	uc002dqn.3	-	5	1117	c.525C>T	c.(523-525)ttC>ttT	p.F175F	NPIPL1_uc010vct.2_Intron|SULT1A1_uc002dqj.3_Silent_p.F84F|SULT1A1_uc002dqi.3_Silent_p.F84F|SULT1A1_uc002dqk.3_Silent_p.F84F|SULT1A1_uc002dql.3_Silent_p.F84F|SULT1A1_uc002dqm.3_Intron|SULT1A1_uc002dqp.3_Silent_p.F84F	NM_177534	NP_803878	P50225	ST1A1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 (SULT1A1), transcript variant 4, mRNA.	84					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						CTGGGGCTTTGAACTCAAGGA	0.582000														20			29		0	0	0.001512	0	0
ATP1A2	477	broad.mit.edu	37	1	160106410	160106410	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:160106410G>A	uc001fvc.3	+	18	2746	c.2614G>A	c.(2614-2616)Gag>Aag	p.E872K	ATP1A2_uc001fvb.2_Missense_Mutation_p.E872K|ATP1A2_uc001fvd.3_Splice_Site_p.E591_splice	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	872					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.E872E(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GATCCTGGCAGAGAACGGTTT	0.577000														16			45		0	0	0.003610	0	0
ROBO4	54538	broad.mit.edu	37	11	124763833	124763833	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:124763833A>G	uc001qbg.3	-	8	1567	c.1427T>C	c.(1426-1428)gTt>gCt	p.V476A	ROBO4_uc010sas.2_Missense_Mutation_p.V331A|ROBO4_uc001qbh.2_Missense_Mutation_p.V366A|ROBO4_uc001qbi.3_Missense_Mutation_p.V34A|ROBO4_uc010sat.1_Missense_Mutation_p.V34A	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 4 (Drosophila) (ROBO4), mRNA.	476					angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CCAGAGTGCAACACCGCAGGT	0.657000														6			6		0	0	0.003080	0	0
PLEKHM1P	440456	broad.mit.edu	37	17	62782740	62782740	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:62782740G>A	uc002jew.4	-	9	2340	c.1429C>T	c.(1429-1431)Cag>Tag	p.Q477*	PLEKHM1P_uc002jev.3_Non-coding_Transcript					Homo sapiens pleckstrin homology domain containing, family M (with RUN domain) member 1 pseudogene (PLEKHM1P), non-coding RNA.																		TGGCAGATCTGGCAGATGAAG	0.567000														6			13		0	0	0.002450	0	0
PANK4	55229	broad.mit.edu	37	1	2452206	2452206	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:2452206G>A	uc001ajm.1	-	3	571	c.562C>T	c.(562-564)Ccc>Tcc	p.P188S	PANK4_uc010nza.1_Missense_Mutation_p.P149S	NM_018216	NP_060686	Q9NVE7	PANK4_HUMAN	Homo sapiens pantothenate kinase 4 (PANK4), mRNA.	188					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		AGAAGATAGGGGAAAATGTGG	0.502000														23			53		0	0	0.003610	0	0
CDH23	64072	broad.mit.edu	37	10	73544156	73544156	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:73544156G>A	uc001jrx.4	+	39	5862	c.5472G>A	c.(5470-5472)ggG>ggA	p.G1824G		NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	1827	Cadherin 17.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GTGACCGGGGGATGCCCCCAC	0.612000														32			26		0	0	0.007291	0	0
TBC1D1	23216	broad.mit.edu	37	4	38051474	38051474	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:38051474T>C	uc003gtb.3	+	10	2223	c.1865T>C	c.(1864-1866)cTt>cCt	p.L622P	TBC1D1_uc011byd.2_Missense_Mutation_p.L622P|TBC1D1_uc010ifd.3_Missense_Mutation_p.L369P|TBC1D1_uc011byf.1_Missense_Mutation_p.L493P	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	Homo sapiens TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 (TBC1D1), transcript variant 1, mRNA.	622						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CAAAGGAAACTTATGAGGTAT	0.512000														48			18		0	0	0.001216	0	0
NUDT4	11163	broad.mit.edu	37	12	93793043	93793043	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:93793043A>G	uc010sup.2	+	4	832	c.434A>G	c.(433-435)aAg>aGg	p.K145R	NUDT4_uc001tcm.3_Missense_Mutation_p.K144R|NUDT4_uc001tcn.3_Missense_Mutation_p.K92R|NUDT4_uc010suq.2_Missense_Mutation_p.K93R|NUDT4_uc001tco.3_Missense_Mutation_p.K92R	NM_199040	NP_950241	Q9NZJ9	NUDT4_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 4 (NUDT4), transcript variant 2, mRNA.	144					calcium-mediated signaling|cyclic nucleotide metabolic process|cyclic-nucleotide-mediated signaling|intracellular transport|regulation of RNA export from nucleus	cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding			endometrium(2)|kidney(1)|lung(2)	5						GAAAAGCTAAAGCTGGGTTGT	0.448000														92			8		0	0	0.000673	0	0
RLF	6018	broad.mit.edu	37	1	40701717	40701717	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:40701717C>T	uc001cfc.4	+	7	1374	c.1343C>T	c.(1342-1344)cCa>cTa	p.P448L	RLF_uc001cfd.4_Missense_Mutation_p.P139L	NM_012421	NP_036553	Q13129	RLF_HUMAN	Homo sapiens rearranged L-myc fusion (RLF), mRNA.	448					DNA integration|DNA mediated transformation|chromosome organization|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			GCACCGGTTCCAAATTCTCTT	0.373000														34			77		0	0	0.003610	0	0
RYR3	6263	broad.mit.edu	37	15	33840344	33840344	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:33840344G>A	uc001zhi.3	+	8	824	c.754G>A	c.(754-756)Gaa>Aaa	p.E252K	RYR3_uc010bar.3_Missense_Mutation_p.E252K	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	252	MIR 3.				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)		GATATTCTACGAAGCTGGGGG	0.532000														1			8		0	0	0.006214	0	0
FGFR2	2263	broad.mit.edu	37	10	123274827	123274827	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:123274827C>T	uc021pzz.1	-	8	1738	c.1091G>A	c.(1090-1092)gGa>gAa	p.G364E	FGFR2_uc021pzv.1_Missense_Mutation_p.G252E|FGFR2_uc021pzw.1_Missense_Mutation_p.G249E|FGFR2_uc021pzx.1_Missense_Mutation_p.G275E|FGFR2_uc021pzy.1_Missense_Mutation_p.G365E|FGFR2_uc010qtl.2_Intron|FGFR2_uc010qtm.2_Missense_Mutation_p.G249E|FGFR2_uc021qaa.1_Missense_Mutation_p.G365E|FGFR2_uc021qab.1_Missense_Mutation_p.G276E|FGFR2_uc021qac.1_Missense_Mutation_p.G295E|FGFR2_uc001lfn.4_Non-coding_Transcript|FGFR2_uc001lfg.4_5'UTR	NM_000141	NP_000132	P21802	FGFR2_HUMAN	Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA.	364					angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	CTTTTCTCTTCCAGGCGCTAG	0.478000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome					33			28		0	0	0.001786	0	0
VAT1L	57687	broad.mit.edu	37	16	77822714	77822714	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:77822714G>A	uc002ffg.1	+	0	232	c.135G>A	c.(133-135)gtG>gtA	p.V45V		NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN	Homo sapiens vesicle amine transport protein 1 homolog (T. californica)-like (VAT1L), mRNA.	45							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						TGCGCGCGGTGGTGCTGGCTG	0.697000														1			4		0	0	0.000602	0	0
MAPK8IP2	23542	broad.mit.edu	37	22	51049160	51049160	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:51049160G>A	uc003bmx.3	+	12	2542	c.2425G>A	c.(2425-2427)Gag>Aag	p.E809K	MAPK8IP2_uc003bmy.3_Missense_Mutation_p.E782K|MAPK8IP2_uc011asc.2_Missense_Mutation_p.E164K	NM_012324	NP_036456	Q13387	JIP2_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 2 (MAPK8IP2), transcript variant 1, mRNA.	810	PID.				MAPKKK cascade|behavioral fear response|dendrite morphogenesis|nonassociative learning|positive regulation of anti-apoptosis|regulation of JNK cascade|regulation of excitatory postsynaptic membrane potential|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	MAP-kinase scaffold activity|beta-amyloid binding|kinesin binding|protein kinase activator activity|protein kinase binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GTACTACCAAGAGCACCTGGC	0.657000														6			8		0	0	0.000978	0	0
NEIL1	79661	broad.mit.edu	37	15	75647320	75647321	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:75647320_75647321GG>AA	uc002bae.3	+	9	1529_1530	c.1376_1377GG>AA	c.(1375-1377)cgg>cAA	p.R459Q	NEIL1_uc002bad.3_Missense_Mutation_p.R373Q|MIR631_uc021sqo.1_5'Flank	NM_024608	NP_078884	Q96FI4	NEIL1_HUMAN	Homo sapiens nei endonuclease VIII-like 1 (E. coli) (NEIL1), mRNA.	373					base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress	cytoplasm|nucleus	DNA-(apurinic or apyrimidinic site) lyase activity|damaged DNA binding|protein C-terminus binding|zinc ion binding	p.R373Q(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						TGCAGACCCCGGAAGGTCAAGG	0.579000								Base excision repair (BER), DNA glycosylases						12			9		0	0	0.004672	0	0
SPRR3	6707	broad.mit.edu	37	1	152975727	152975727	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:152975727C>T	uc021ozo.1	+	0	231	c.231C>T	c.(229-231)gtC>gtT	p.V77V	SPRR3_uc001fax.4_Silent_p.V77V|SPRR3_uc001faz.4_Silent_p.V77V|SPRR3_uc001fay.2_Silent_p.V69V	NM_005416	NP_005407	Q9UBC9	SPRR3_HUMAN	Homo sapiens small proline-rich protein 3 (SPRR3), transcript variant 1, mRNA.	77	14 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTACCAAGGTCCCTGAGCCAG	0.587000														24			6		0	0	0.001168	0	0
MXRA5	25878	broad.mit.edu	37	X	3239541	3239541	+	Silent	SNP	T	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:3239541T>A	uc004crg.4	-	4	4342	c.4185A>T	c.(4183-4185)atA>atT	p.I1395I		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1395						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGGTAACAGGTATGCCTGTCT	0.493000														1			14		0	0	0.004007	0	0
SNCAIP	9627	broad.mit.edu	37	5	121786716	121786716	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:121786716C>T	uc003ksw.1	+	9	2380	c.2174C>T	c.(2173-2175)aCc>aTc	p.T725I	SNCAIP_uc011cwl.1_Missense_Mutation_p.T283I|SNCAIP_uc003ksy.1_Missense_Mutation_p.T359I|SNCAIP_uc003ksx.1_Missense_Mutation_p.T772I|SNCAIP_uc003ksz.1_Missense_Mutation_p.T359I|SNCAIP_uc010jcu.2_Missense_Mutation_p.T321I|SNCAIP_uc011cwm.1_Missense_Mutation_p.T359I|SNCAIP_uc003kta.1_Missense_Mutation_p.T357I|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.T419I|SNCAIP_uc010jcx.1_Missense_Mutation_p.T665I|BC029465_uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Missense_Mutation_p.T241I	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	725					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AAGAAACACACCTTGGCATCA	0.562000														26			16		0	0	0.006122	0	0
ADAM29	11086	broad.mit.edu	37	4	175897250	175897250	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:175897250G>A	uc003iuc.3	+	4	1244	c.574G>A	c.(574-576)Ggc>Agc	p.G192S	ADAM29_uc003iud.3_Missense_Mutation_p.G192S|ADAM29_uc010irr.3_Missense_Mutation_p.G192S|ADAM29_uc011cki.2_Missense_Mutation_p.G192S|ADAM29_uc021xuo.1_Missense_Mutation_p.G192S	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	192					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TTCTTATGTGGGCTGGTGGAT	0.358000														10			33		0	0	0.001786	0	0
HYDIN	54768	broad.mit.edu	37	16	70908326	70908326	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:70908326C>T	uc002ezr.3	-	63	10978	c.10827G>A	c.(10825-10827)gaG>gaA	p.E3609E		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	3610										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGATGTCATCCTCATAGCCCT	0.498000														15			6		0	0	0.000978	0	0
TUFM	7284	broad.mit.edu	37	16	28855357	28855357	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:28855357G>A	uc002drh.2	-	7	1127	c.988C>T	c.(988-990)Cga>Tga	p.R330*	NPIPL1_uc010vct.2_Intron|TUFM_uc021tft.1_5'Flank|SH2B1_uc002dri.3_5'Flank	NM_003321	NP_003312	P49411	EFTU_HUMAN	Homo sapiens Tu translation elongation factor, mitochondrial (TUFM), nuclear gene encoding mitochondrial protein, mRNA.	327						mitochondrial nucleoid	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13						TTCAAGCCTCGGACCAGGGCC	0.632000														26			24		0	0	0.004656	0	0
MARCH10	162333	broad.mit.edu	37	17	60837199	60837199	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:60837199G>A	uc010dds.3	-	3	664	c.379C>T	c.(379-381)Cca>Tca	p.P127S	MARCH10_uc010ddr.3_Missense_Mutation_p.P127S|MARCH10_uc002jag.4_Missense_Mutation_p.P127S|MARCH10_uc002jah.2_Missense_Mutation_p.P127S	NM_152598	NP_689811	Q8NA82	MARHA_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 10 (MARCH10), transcript variant 1, mRNA.	127							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						CACTCACCTGGAGAGGGTTCG	0.458000														37			34		0	0	0.006999	0	0
STAB2	55576	broad.mit.edu	37	12	104083682	104083682	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:104083682C>T	uc001tjw.3	+	28	3290	c.3104C>T	c.(3103-3105)tCc>tTc	p.S1035F		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1035	FAS1 3.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CTCGTGCCTTCCCAACAAGCT	0.438000														20			33		0	0	0.004289	0	0
ABHD15	116236	broad.mit.edu	37	17	27889813	27889813	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:27889813G>A	uc002hed.2	-	1	1231	c.1173C>T	c.(1171-1173)caC>caT	p.H391H		NM_198147	NP_937790	Q6UXT9	ABH15_HUMAN	Homo sapiens abhydrolase domain containing 15 (ABHD15), mRNA.	391						extracellular region	carboxylesterase activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						GGAAGCCACAGTGGCCTCCGT	0.607000														29			12		0	0	0.001368	0	0
MYBPC1	4604	broad.mit.edu	37	12	102038561	102038561	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:102038561C>T	uc001tii.3	+	9	1017	c.877C>T	c.(877-879)Cga>Tga	p.R293*	MYBPC1_uc001tif.2_Nonsense_Mutation_p.R306*|MYBPC1_uc001tig.3_Nonsense_Mutation_p.R318*|MYBPC1_uc010svr.2_Nonsense_Mutation_p.R293*|MYBPC1_uc010svs.2_Nonsense_Mutation_p.R293*|MYBPC1_uc001tij.3_Nonsense_Mutation_p.R293*|MYBPC1_uc010svt.2_Nonsense_Mutation_p.R281*|MYBPC1_uc010svu.2_Nonsense_Mutation_p.R274*|MYBPC1_uc001tik.3_Nonsense_Mutation_p.R267*|MYBPC1_uc001tih.3_Nonsense_Mutation_p.R318*|MYBPC1_uc010svq.2_Nonsense_Mutation_p.R280*	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	Homo sapiens myosin binding protein C, slow type (MYBPC1), transcript variant 3, mRNA.	293	Ig-like C2-type 2.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						TCAAGAAATTCGACCCAGTAC	0.398000														4			10		0	0	0.000673	0	0
ZNF343	79175	broad.mit.edu	37	20	2473408	2473408	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:2473408G>A	uc002wge.1	-	4	729	c.241C>T	c.(241-243)Cca>Tca	p.P81S	ZNF343_uc010gao.1_Missense_Mutation_p.P81S|ZNF343_uc002wgd.1_5'UTR	NM_024325	NP_077301	Q6P1L6	ZN343_HUMAN	Homo sapiens zinc finger protein 343 (ZNF343), mRNA.	81	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						CTCTGCTCTGGACTCAGTCTC	0.408000														56			32		0	0	0.003755	0	0
UNC119B	84747	broad.mit.edu	37	12	121154737	121154737	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:121154737C>T	uc001tyz.3	+	3	982	c.535C>T	c.(535-537)Cgg>Tgg	p.R179W		NM_001080533	NP_001074002	A6NIH7	U119B_HUMAN	Homo sapiens unc-119 homolog B (C. elegans) (UNC119B), mRNA.	179										breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GCACTATTTCCGGGAACACTT	0.458000														136			238		0	0	0.003610	0	0
SPTA1	6708	broad.mit.edu	37	1	158604364	158604364	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:158604364C>T	uc001fst.1	-	38	5733	c.5534G>A	c.(5533-5535)gGa>gAa	p.G1845E		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1845					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	p.R1844L(1)		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)					TCCACAATCTCCTCGGACAGC	0.403000														66			26		0	0	0.006320	0	0
TPCN1	53373	broad.mit.edu	37	12	113723740	113723740	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:113723740G>A	uc001tux.3	+	18	1890	c.1716G>A	c.(1714-1716)gtG>gtA	p.V572V	TPCN1_uc001tuw.3_Silent_p.V500V|TPCN1_uc010syt.1_Silent_p.V432V	NM_001143819	NP_060371	Q9ULQ1	TPC1_HUMAN	Homo sapiens two pore segment channel 1 (TPCN1), transcript variant 1, mRNA.	500						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						TGGGCCCTGTGGAGTACTTGT	0.582000														25			34		0	0	0.006999	0	0
PSMA5	5686	broad.mit.edu	37	1	109954795	109954795	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:109954795G>A	uc001dxn.3	-	4	421	c.303C>T	c.(301-303)ttC>ttT	p.F101F	PSMA5_uc010ovj.2_Silent_p.F43F|PSMA5_uc021ord.1_Silent_p.F43F|PSMA5_uc021ore.1_Silent_p.F43F	NM_002790	NP_001186703	P28066	PSA5_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 5 (PSMA5), transcript variant 1, mRNA.	101					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|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|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|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, alpha-subunit complex	protein binding|threonine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)	5		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.045)|Colorectal(144;0.116)|Epithelial(280;0.187)|all cancers(265;0.196)|LUSC - Lung squamous cell carcinoma(189;0.235)		CATTGTAGGTGAACCAGTGGT	0.468000														64			163		0	0	0.003610	0	0
FAM47A	158724	broad.mit.edu	37	X	34148258	34148259	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:34148258_34148259GG>AA	uc004ddg.3	-	0	2189_2190	c.2137_2138CC>TT	c.(2137-2139)cct>TTt	p.P713F		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	713								p.P713T(2)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GTCAATCAAAGGTTCATCACTT	0.426000														2			43		0	0	0.004672	0	0
MYH1	4619	broad.mit.edu	37	17	10412913	10412913	+	Silent	SNP	G	A	A	rs141597159		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:10412913G>A	uc002gmo.3	-	14	1570	c.1476C>T	c.(1474-1476)ttC>ttT	p.F492F	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	492	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.F492F(2)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGTGGTGGTTGAAAAACTGTT	0.443000														50			24		0	0	0.007291	0	0
QTRT1	81890	broad.mit.edu	37	19	10822887	10822888	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:10822887_10822888GG>AA	uc002mpr.3	+	5	722_723	c.697_698GG>AA	c.(697-699)ggt>AAt	p.G233N	DNM2_uc010dxk.2_5'Flank	NM_031209	NP_112486	Q9BXR0	TGT_HUMAN	Homo sapiens queuine tRNA-ribosyltransferase 1 (QTRT1), mRNA.	233					queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			CCTGAGCGGGGGTGAGAGCAAG	0.614000														47			28		0	0	0.004672	0	0
RSPRY1	89970	broad.mit.edu	37	16	57238576	57238576	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:57238576C>T	uc002elb.3	+	1	284	c.6C>T	c.(4-6)atC>atT	p.I2I	RSPRY1_uc002elc.3_Silent_p.I2I|RSPRY1_uc002eld.3_Silent_p.I2I|RSPRY1_uc002ele.1_Silent_p.I2I	NM_133368	NP_588609	Q96DX4	RSPRY_HUMAN	Homo sapiens ring finger and SPRY domain containing 1 (RSPRY1), mRNA.	2						extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						CCTAAATGATCGTCTTTGGTT	0.448000														11			91		0	0	0.003610	0	0
FAM75A6	389730	broad.mit.edu	37	9	43627778	43627778	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:43627778G>A	uc011lrb.2	-	3	938	c.909C>T	c.(907-909)tcC>tcT	p.S303S		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA.	303						integral to membrane				breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1)	54						GTGGGTGGCGGGAAAGAGGAT	0.542000														171			83		0	0	0.003610	0	0
HDC	3067	broad.mit.edu	37	15	50535044	50535044	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:50535044G>A	uc001zxz.3	-	11	1744	c.1402C>T	c.(1402-1404)Cga>Tga	p.R468*	HDC_uc001zxy.3_Nonsense_Mutation_p.R211*|HDC_uc010uff.2_Nonsense_Mutation_p.R435*	NM_002112	NP_002103	P19113	DCHS_HUMAN	Homo sapiens histidine decarboxylase (HDC), mRNA.	468					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)	GCAGCATCTCGAATGAGATTC	0.542000														20			23		0	0	0.003954	0	0
CCDC141	285025	broad.mit.edu	37	2	179736979	179736979	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:179736979C>T	uc002une.2	-	12	2078	c.1960G>A	c.(1960-1962)Gaa>Aaa	p.E654K	CCDC141_uc002unf.1_Missense_Mutation_p.E133K	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	79							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TTCTGGTTTTCCATGGTGTTC	0.423000														18			18		0	0	0.001882	0	0
MYO7B	4648	broad.mit.edu	37	2	128394369	128394369	+	Splice_Site	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:128394369G>A	uc002top.3	+	46	6183	c.6130_splice	c.e46-1	p.D2044_splice	MYO7B_uc002tos.2_Splice_Site_p.D154_splice	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	2044	FERM 2.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CTGCCCCCAGGACCTGCTCAC	0.657000														18			29		0	0	0.007291	0	0
ADAMTSL2	9719	broad.mit.edu	37	9	136402603	136402603	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:136402603G>A	uc011mdl.2	+	2	724	c.167G>A	c.(166-168)tGg>tAg	p.W56*	ADAMTSL2_uc004cei.3_Nonsense_Mutation_p.W56*	NM_001145320	NP_055509	Q86TH1	ATL2_HUMAN	Homo sapiens ADAMTS-like 2 (ADAMTSL2), transcript variant 2, mRNA.	56	TSP type-1 1.				negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		TGGACCAAGTGGACGGCGTGT	0.677000														25			35		0	0	0.003271	0	0
BTAF1	9044	broad.mit.edu	37	10	93768959	93768959	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:93768959G>C	uc001khr.3	+	27	4195	c.4097G>C	c.(4096-4098)aGa>aCa	p.R1366T		NM_003972	NP_003963	O14981	BTAF1_HUMAN	Homo sapiens BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) (BTAF1), mRNA.	1366	Helicase ATP-binding.				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	p.E1365K(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				CCCACTGAAAGAATAAGGTAA	0.353000														27			19		0	0	0.001523	0	0
CCR1	1230	broad.mit.edu	37	3	46245057	46245057	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:46245057G>A	uc003cph.1	-	1	819	c.748C>T	c.(748-750)Ctc>Ttc	p.L250F	CCR3_uc003cpg.2_Intron|CCR1_uc021wwy.1_Missense_Mutation_p.L250F	NM_001295	NP_001286	P32246	CCR1_HUMAN	Homo sapiens chemokine (C-C motif) receptor 1 (CCR1), mRNA.	250					G-protein signaling, coupled to cyclic nucleotide second messenger|cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GTCCAAAAGAGAAAAAAGATG	0.403000														18			9		0	0	0.000673	0	0
GPR139	124274	broad.mit.edu	37	16	20043735	20043735	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:20043735G>A	uc002dgu.1	-	1	546	c.384C>T	c.(382-384)atC>atT	p.I128I	GPR139_uc010vaw.1_Silent_p.I35I	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA.	128						integral to membrane|plasma membrane		p.I128N(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						GGCAGACAGCGATATACCTGT	0.507000														64			47		0	0	0.003610	0	0
COPG2	26958	broad.mit.edu	37	7	130147558	130147558	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:130147558G>A	uc003vqh.1	-	11	1034	c.944C>T	c.(943-945)aCc>aTc	p.T315I		NM_012133	NP_036265	Q9UBF2	COPG2_HUMAN	Homo sapiens coatomer protein complex, subunit gamma 2 (COPG2), mRNA.	785					intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat	protein binding|structural molecule activity			large_intestine(1)	1	Melanoma(18;0.0435)					GAGGGCAAAGGTTTCCTCTTT	0.428000														163			117		0	0	0.003610	0	0
GATAD2A	54815	broad.mit.edu	37	19	19606633	19606633	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:19606633C>T	uc010xqt.2	+	5	1007	c.695C>T	c.(694-696)tCg>tTg	p.S232L	GATAD2A_uc010xqu.2_Intron|GATAD2A_uc010xqv.2_Missense_Mutation_p.S251L|GATAD2A_uc010xqw.2_Missense_Mutation_p.S59L	NM_017660	NP_060130	Q86YP4	P66A_HUMAN	Homo sapiens GATA zinc finger domain containing 2A (GATAD2A), mRNA.	232					DNA methylation|negative regulation of transcription, DNA-dependent	NuRD complex|nuclear speck	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						CAGGCGTCCTCGAAGCTGGGG	0.647000														25			13		0	0	0.002450	0	0
MYH6	4624	broad.mit.edu	37	14	23855611	23855611	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:23855611G>A	uc001wjv.3	-	32	4943	c.4872C>T	c.(4870-4872)ctC>ctT	p.L1624L		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	1624					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCATCTCATTGAGGTCTCCTT	0.607000														37			41		0	0	0.002222	0	0
HS3ST1	9957	broad.mit.edu	37	4	11401111	11401111	+	Silent	SNP	G	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:11401111G>T	uc003gmq.3	-	1	842	c.519C>A	c.(517-519)tcC>tcA	p.S173S	HS3ST1_uc021xmg.1_Silent_p.S173S	NM_005114	NP_005105	O14792	HS3S1_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 1 (HS3ST1), mRNA.	173						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						ACTCCTCGATGGACGGGTAGG	0.587000														27			18		1.10513e-12	1.54126e-12	0.002299	1	0
NFATC4	4776	broad.mit.edu	37	14	24839800	24839801	+	Splice_Site	DNP	GG	AA	AA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:24839800_24839801GG>AA	uc001wpc.3	+	2	1517	c.1196_splice	c.e2+1	p.R399_splice	NFATC4_uc010alr.3_Splice_Site_p.R462_splice|NFATC4_uc010tok.2_Splice_Site_p.R462_splice|NFATC4_uc010tol.2_Splice_Site_p.R462_splice|NFATC4_uc010als.2_Splice_Site_p.R412_splice|NFATC4_uc010too.2_Splice_Site_p.R412_splice|NFATC4_uc010tom.2_Splice_Site_p.R412_splice|NFATC4_uc010ton.2_Splice_Site_p.R412_splice|NFATC4_uc010toq.2_Splice_Site_p.R431_splice|NFATC4_uc010alt.3_Splice_Site_p.R431_splice|NFATC4_uc010top.2_Splice_Site_p.R431_splice|NFATC4_uc010alu.3_Intron|NFATC4_uc010tor.2_Splice_Site_p.R399_splice|NFATC4_uc010tos.2_Splice_Site_p.R329_splice|NFATC4_uc010tot.2_Splice_Site_p.R387_splice|NFATC4_uc010tou.2_Splice_Site_p.R329_splice|NFATC4_uc010tov.2_Splice_Site_p.R387_splice|NFATC4_uc010tow.2_Splice_Site_p.R329_splice|NFATC4_uc010alv.3_Splice_Site_p.R387_splice|NFATC4_uc010tox.2_Splice_Site_p.R329_splice|NFATC4_uc001wpd.3_5'Flank|NFATC4_uc010toy.2_5'Flank|NFATC4_uc010toz.2_5'Flank	NM_004554	NP_001185895	Q14934	NFAC4_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 (NFATC4), transcript variant 2, mRNA.	399					cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CCTATCTTCAGGTGAGGGTTGC	0.599000														13			13		0	0	0.004672	0	0
DSG1	1828	broad.mit.edu	37	18	28935179	28935179	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:28935179G>A	uc002kwp.3	+	14	3232	c.3020G>A	c.(3019-3021)gGa>gAa	p.G1007E	DSG1_uc010xbp.2_Missense_Mutation_p.G366E	NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	1007	Gly/Ser-rich.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	p.G1007V(2)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			AGCAGCTTGGGAGGGACAGCC	0.587000														27			15		0	0	0.002450	0	0
TRIM3	10612	broad.mit.edu	37	11	6478607	6478607	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:6478607G>A	uc001mdh.3	-	5	1011	c.615C>T	c.(613-615)ttC>ttT	p.F205F	TRIM3_uc001mdi.3_Silent_p.F205F|TRIM3_uc010raj.2_Silent_p.F86F|TRIM3_uc009yfd.3_Silent_p.F205F|TRIM3_uc010rak.1_Silent_p.F205F|TRIM3_uc001mdj.2_Silent_p.F86F	NM_006458	NP_006449	O75382	TRIM3_HUMAN	Homo sapiens tripartite motif containing 3 (TRIM3), transcript variant 1, mRNA.	205					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCAGGTCCTCGAACGCTGCAC	0.612000														22			34		0	0	0.002445	0	0
GALNT13	114805	broad.mit.edu	37	2	155099233	155099233	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:155099233G>A	uc002tyt.4	+	3	605	c.501G>A	c.(499-501)gaG>gaA	p.E167E	GALNT13_uc002tyr.4_Silent_p.E167E|GALNT13_uc010foc.1_5'UTR	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA.	167	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.L166I(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TGACATTAGAGAATTACGTGA	0.338000														7			16		0	0	0.006122	0	0
MMEL1	79258	broad.mit.edu	37	1	2525362	2525362	+	Silent	SNP	G	A	A	rs141783638		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:2525362G>A	uc001ajy.2	-	18	1972	c.1758C>T	c.(1756-1758)gcC>gcT	p.A586A	MMEL1_uc009vlg.1_Non-coding_Transcript	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN	Homo sapiens membrane metallo-endopeptidase-like 1 (MMEL1), mRNA.	586					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GGAGGATCCCGGCAGGGAATA	0.597000														32			9		0	0	0.000978	0	0
GPR3	2827	broad.mit.edu	37	1	27720878	27720878	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:27720878G>A	uc001bod.3	+	1	671	c.576G>A	c.(574-576)aaG>aaA	p.K192K	GPR3_uc021ojv.1_Silent_p.K192K	NM_005281	NP_005272	P46089	GPR3_HUMAN	Homo sapiens G protein-coupled receptor 3 (GPR3), mRNA.	192					activation of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane				endometrium(3)|lung(3)|ovary(1)|skin(1)	8		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419)		CACTCTCCAAGAACCATCTGG	0.597000														109			27		0	0	0.001786	0	0
ENO1	2023	broad.mit.edu	37	1	8925417	8925418	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:8925417_8925418GG>AA	uc001apj.2	-	7	1313_1314	c.791_792CC>TT	c.(790-792)ccc>cTT	p.P264L	ENO1_uc001api.2_Missense_Mutation_p.P171L|ENO1_uc009vml.2_Missense_Mutation_p.P264L	NM_001428	NP_001188412	P06733	ENOA_HUMAN	Homo sapiens enolase 1, (alpha) (ENO1), transcript variant 1, mRNA.	264					gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		TGGGGTCATCGGGAGACTTGAA	0.559000														26			32		0	0	0.004672	0	0
DKK4	27121	broad.mit.edu	37	8	42231868	42231869	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:42231868_42231869CC>TT	uc003xpb.3	-	3	535_536	c.424_425GG>AA	c.(424-426)gga>AAa	p.G142K		NM_014420	NP_055235	Q9UBT3	DKK4_HUMAN	Homo sapiens dickkopf homolog 4 (Xenopus laevis) (DKK4), mRNA.	142					Wnt receptor signaling pathway|multicellular organismal development|negative regulation of Wnt receptor signaling pathway	extracellular region		p.E141D(1)		NS(1)|endometrium(1)|large_intestine(7)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)			ACAACTTTCTCCCTCTTGTCCT	0.465000														2			16		0	0	0.004672	0	0
SNX25	83891	broad.mit.edu	37	4	186180011	186180011	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:186180011A>T	uc003ixh.3	+	2	221	c.32A>T	c.(31-33)tAc>tTc	p.Y11F		NM_031953	NP_114159	Q9H3E2	SNX25_HUMAN	Homo sapiens sorting nexin 25 (SNX25), mRNA.	11	PXA.				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		GTGTTCGACTACAGTTATAGA	0.403000														65			20		0	0	0.002299	0	0
ADCY2	108	broad.mit.edu	37	5	7757592	7757592	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:7757592A>T	uc003jdz.1	+	15	2054	c.1987A>T	c.(1987-1989)Atg>Ttg	p.M663L	ADCY2_uc011cmo.1_Missense_Mutation_p.M483L	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	Homo sapiens adenylate cyclase 2 (brain) (ADCY2), mRNA.	663					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TCCCCTGCTCATGTGGCTTTT	0.483000														79			64		0	0	0.003610	0	0
DHX35	60625	broad.mit.edu	37	20	37601254	37601254	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:37601254T>C	uc002xjh.3	+	2	257	c.227T>C	c.(226-228)gTt>gCt	p.V76A	DHX35_uc010zwa.2_5'UTR|DHX35_uc010zwc.2_Intron|DHX35_uc010zwb.2_5'UTR	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 35 (DHX35), transcript variant 1, mRNA.	76	Helicase ATP-binding.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				GTGGTGATTGTTGGTGAAACA	0.348000														24			16		0	0	0.001216	0	0
DNAH3	55567	broad.mit.edu	37	16	20975263	20975263	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:20975263C>T	uc010vbe.2	-	52	9943	c.9943G>A	c.(9943-9945)Gag>Aag	p.E3315K	DNAH3_uc010vbd.2_Missense_Mutation_p.E750K	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3315					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TACATCGGCTCGATGTTGGCC	0.502000														33			39		0	0	0.007835	0	0
BCLAF1	9774	broad.mit.edu	37	6	136594245	136594245	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:136594245G>A	uc003qgx.1	-	6	2186	c.1933C>T	c.(1933-1935)Cgg>Tgg	p.R645W	BCLAF1_uc003qgy.1_Missense_Mutation_p.R643W|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.R643W|BCLAF1_uc003qgw.1_Missense_Mutation_p.R472W	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	645					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.R645W(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CTCTTTTGCCGAGTACTATGT	0.393000														40			6		0	0	0.001168	0	0
CNTRL	11064	broad.mit.edu	37	9	123912507	123912507	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:123912507C>T	uc004bkx.1	+	22	3740	c.3709C>T	c.(3709-3711)Cca>Tca	p.P1237S	CNTRL_uc004bky.1_Missense_Mutation_p.P841S|CNTRL_uc004bla.1_Missense_Mutation_p.P685S|CNTRL_uc010mvo.1_5'UTR|CNTRL_uc004blb.1_5'Flank	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN	Homo sapiens centriolin (CNTRL), mRNA.	1237	Pro-rich.				G2/M transition of mitotic cell cycle|cell division	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						AGAAGAACCCCCATTTGTGCC	0.483000														19			16		0	0	0.004990	0	0
CCDC88C	440193	broad.mit.edu	37	14	91770158	91770158	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:91770158C>T	uc010aty.3	-	19	3676	c.3522G>A	c.(3520-3522)ctG>ctA	p.L1174L		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	1174					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GCAGCGTGCCCAGGTGCTCGT	0.632000														24			19		0	0	0.006122	0	0
PRDM9	56979	broad.mit.edu	37	5	23510065	23510065	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:23510065G>A	uc003jgo.3	+	3	412	c.230G>A	c.(229-231)cGa>cAa	p.R77Q		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	77	KRAB-related.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ATGTGTCACCGAAGGCAGGCC	0.468000										HNSCC(3;0.000094)				37			26		0	0	0.007291	0	0
STAG1	10274	broad.mit.edu	37	3	136162195	136162195	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:136162195C>T	uc003era.1	-	14	1772	c.1480G>A	c.(1480-1482)Gaa>Aaa	p.E494K	STAG1_uc003erb.1_Missense_Mutation_p.E494K|STAG1_uc003erc.1_Missense_Mutation_p.E268K|STAG1_uc010hua.1_Missense_Mutation_p.E357K	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	Homo sapiens stromal antigen 1 (STAG1), mRNA.	494					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						TTCAACAGTTCTTGAGAGCTC	0.343000														43			12		0	0	0.003163	0	0
ANK3	288	broad.mit.edu	37	10	61834260	61834260	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:61834260C>T	uc001jky.3	-	36	6717	c.6379G>A	c.(6379-6381)Gac>Aac	p.D2127N	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	2127					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.D2127E(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AAGCCACTGTCAGACAAGGGA	0.418000														31			24		0	0	0.002780	0	0
PDIA5	10954	broad.mit.edu	37	3	122808015	122808015	+	Splice_Site	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:122808015G>A	uc003egc.2	+	2	199	c.43_splice	c.e2-1	p.V15_splice	PDIA5_uc003egd.2_Splice_Site	NM_006810	NP_006801	Q14554	PDIA5_HUMAN	Homo sapiens protein disulfide isomerase family A, member 5 (PDIA5), transcript variant 1, mRNA.	15					cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		TGATCCCCAGGTGGTCCTGCC	0.537000														17			25		0	0	0.005443	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841699	8841699	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:8841699C>T	uc010xkg.2	+	0	309	c.309C>T	c.(307-309)ttC>ttT	p.F103F		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA.	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AAATATTCTTCCTCACACTGA	0.532000														31			26		0	0	0.003954	0	0
CACNA1B	774	broad.mit.edu	37	9	140881234	140881234	+	Splice_Site	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:140881234G>A	uc004cog.3	+	15	2047	c.1902_splice	c.e15-1	p.Q634_splice	CACNA1B_uc022bqn.1_Splice_Site_p.Q634_splice|CACNA1B_uc011mfd.2_Splice_Site_p.Q236_splice	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	634					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TTTTCCTCAGGTTCAACTTCC	0.597000														40			69		0	0	0.003610	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77465432	77465432	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:77465432C>T	uc002ffc.4	-	2	674	c.255G>A	c.(253-255)agG>agA	p.R85R	ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_Non-coding_Transcript	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	85					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ATCGCTTTTTCCTGCCGTTGT	0.478000														11			122		0	0	0.003610	0	0
ABCC1	4363	broad.mit.edu	37	16	16177348	16177348	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:16177348C>T	uc010bvi.3	+	16	2416	c.2241C>T	c.(2239-2241)ctC>ctT	p.L747L	ABCC1_uc010bvj.3_Intron|ABCC1_uc010bvk.3_Silent_p.L747L|ABCC1_uc010bvl.3_Silent_p.L747L|ABCC1_uc010bvm.3_Intron|ABCC1_uc002del.4_Silent_p.L631L	NM_004996	NP_004987	P33527	MRP1_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA.	747	ABC transporter 1.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GTGCCCTCCTCCCAGACCTGG	0.532000														33			30		0	0	0.004289	0	0
MUC16	94025	broad.mit.edu	37	19	9089128	9089128	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:9089128G>A	uc002mkp.3	-	0	2891	c.2687C>T	c.(2686-2688)cCa>cTa	p.P896L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	896	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						GGGGAATACTGGGGTAGGGAC	0.517000														8			10		0	0	0.000978	0	0
PCDHB1	29930	broad.mit.edu	37	5	140431773	140431774	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:140431773_140431774CC>TT	uc003lik.1	+	0	795_796	c.718_719CC>TT	c.(718-720)ccc>TTc	p.P240F		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	240	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGACCACGTGCCCCAGTTCTCG	0.599000														10			13		0	0	0.004672	0	0
RBM38	55544	broad.mit.edu	37	20	55982669	55982669	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:55982669C>T	uc010zzj.2	+	3	671	c.487C>T	c.(487-489)Ccg>Tcg	p.P163S	MIR5095_uc021wfc.1_Intron|RBM38_uc010zzk.2_3'UTR	NM_017495	NP_059965	Q9H0Z9	RBM38_HUMAN	Homo sapiens RNA binding motif protein 38 (RBM38), transcript variant 1, mRNA.	163					3'-UTR-mediated mRNA stabilization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|RNA splicing|cell cycle|cell cycle arrest|cell differentiation|mRNA processing|negative regulation of cell proliferation|regulation of RNA splicing	cytosol|nucleus	RNA binding|mRNA 3'-UTR binding|mRNA binding|nucleotide binding			large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08)			CGCCCCTGTCCCGTCGCTGTC	0.677000														11			13		0	0	0.001368	0	0
THOP1	7064	broad.mit.edu	37	19	2808345	2808345	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:2808345C>T	uc002lwj.3	+	8	1513	c.1358C>T	c.(1357-1359)aCc>aTc	p.T453I	THOP1_uc010xgz.2_Missense_Mutation_p.T332I|THOP1_uc002lwk.3_5'Flank	NM_003249	NP_003240	P52888	THOP1_HUMAN	Homo sapiens thimet oligopeptidase 1 (THOP1), mRNA.	453					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				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)		GCCAACTTCACCAAGCCCACA	0.662000														6			7		0	0	0.003080	0	0
PTRHD1	391356	broad.mit.edu	37	2	25016001	25016001	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:25016001G>A	uc002rfm.3	-	0	251	c.246C>T	c.(244-246)gtC>gtT	p.V82V	CENPO_uc002rfp.2_5'Flank|CENPO_uc002rfq.2_5'Flank	NM_001013663	NP_001013685	Q6GMV3	PTRD1_HUMAN	Homo sapiens peptidyl-tRNA hydrolase domain containing 1 (PTRHD1), mRNA.	82					translation		aminoacyl-tRNA hydrolase activity|protein tyrosine phosphatase activity			autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|skin(1)	6						TCACCTCGAGGACCACTTTGC	0.687000														14			13		0	0	0.001855	0	0
THSD7B	80731	broad.mit.edu	37	2	137917931	137917931	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:137917931G>A	uc002tva.1	+	4	1425	c.1425G>A	c.(1423-1425)ggG>ggA	p.G475G	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Silent_p.G365G	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ATCCTCAGGGGAAAAAAGGTG	0.468000														10			6		0	0	0.001168	0	0
DNAH5	1767	broad.mit.edu	37	5	13867897	13867897	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:13867897G>A	uc003jfd.2	-	24	4081	c.4039C>T	c.(4039-4041)Ctg>Ttg	p.L1347L		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1347	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCATAGTCCAGATAAAACTGG	0.403000									Kartagener syndrome					28			23		0	0	0.005443	0	0
ZNF287	57336	broad.mit.edu	37	17	16455996	16455996	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:16455996T>C	uc021trd.1	-	5	2078	c.1460A>G	c.(1459-1461)aAa>aGa	p.K487R	ZNF287_uc002gqi.2_Missense_Mutation_p.K487R	NM_020653	NP_065704	Q9HBT7	ZN287_HUMAN	Homo sapiens zinc finger protein 287 (ZNF287), mRNA.	480					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		ACTGAAGGTTTTACCACATTC	0.398000														30			22		0	0	0.004656	0	0
WDR6	11180	broad.mit.edu	37	3	49051112	49051112	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:49051112G>A	uc003cvj.2	+	1	2373	c.2235G>A	c.(2233-2235)ctG>ctA	p.L745L	WDR6_uc011bbx.1_3'UTR|WDR6_uc011bby.1_Silent_p.L193L|WDR6_uc010hkn.2_Silent_p.L689L|WDR6_uc011bbz.1_Silent_p.L664L	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN	Homo sapiens WD repeat domain 6 (WDR6), mRNA.	715					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		CCATTACCCTGGGGCCTGAAT	0.592000											OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		21			5		0	0	0.000602	0	0
COL6A6	131873	broad.mit.edu	37	3	130282258	130282258	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:130282258C>T	uc010htl.3	+	1	442	c.411C>T	c.(409-411)gtC>gtT	p.V137V		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	137	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen		p.V137L(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TTCTAGTGGTCCTGGCTTCAT	0.502000														17			8		0	0	0.006214	0	0
LAMB3	3914	broad.mit.edu	37	1	209823372	209823372	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:209823372A>T	uc001hhg.3	-	1	510	c.120T>A	c.(118-120)ttT>ttA	p.F40L	LAMB3_uc009xco.3_Missense_Mutation_p.F40L|LAMB3_uc001hhh.3_Missense_Mutation_p.F40L|LAMB3_uc010psl.1_Non-coding_Transcript|LAMB3_uc009xcp.1_Missense_Mutation_p.F40L	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	40	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		AAGCTCGGAGAAACCGGGTCC	0.607000														8			21		0	0	0.003330	0	0
CYP2C19	1557	broad.mit.edu	37	10	96535251	96535251	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:96535251C>T	uc010qnz.2	+	2	436	c.436C>T	c.(436-438)Caa>Taa	p.Q146*	CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_Nonsense_Mutation_p.Q124*	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	146					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GGACCGTGTTCAAGAGGAAGC	0.517000														50			40		0	0	0.003610	0	0
ARHGAP27	201176	broad.mit.edu	37	17	43474071	43474071	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:43474071G>A	uc002iix.3	-	11	1463	c.1014C>T	c.(1012-1014)ccC>ccT	p.P338P	ARHGAP27_uc010dak.3_Silent_p.P311P	NM_199282	NP_954976	Q6ZUM4	RHG27_HUMAN	Homo sapiens Rho GTPase activating protein 27 (ARHGAP27), transcript variant 1, mRNA.	679					positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					ACTGCAGTGTGGGCCGCCTCT	0.731000														24			30		0	0	0.003271	0	0
LOC100131320	100131320	broad.mit.edu	37	2	130725897	130725897	+	RNA	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:130725897G>A	uc002tpw.1	-	5		c.728C>T								Homo sapiens uncharacterized LOC100131320 (LOC100131320), non-coding RNA.																		TCCCAAAGGGGAAAGTCTGTA	0.418000														22			7		0	0	0.003080	0	0
FRMPD2	143162	broad.mit.edu	37	10	49386146	49386146	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:49386146C>T	uc001jgi.3	-	21	3170	c.2839G>A	c.(2839-2841)Gaa>Aaa	p.E947K	FRMPD2_uc001jgh.3_Missense_Mutation_p.E915K|FRMPD2_uc001jgj.3_Missense_Mutation_p.E916K|FRMPD2_uc001jgf.3_5'Flank|FRMPD2_uc001jgg.3_5'Flank|FRMPD2_uc001jgk.3_5'UTR	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	947					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		AAGTAGATTTCACCAGCACTG	0.408000														27			22		0	0	0.007291	0	0
MAN2A1	4124	broad.mit.edu	37	5	109159519	109159519	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:109159519C>T	uc003kou.1	+	15	3510	c.2547C>T	c.(2545-2547)gtC>gtT	p.V849V		NM_002372	NP_002363	Q16706	MA2A1_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 1 (MAN2A1), mRNA.	849					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		CTCATAGAGTCCGACTATACC	0.358000														36			30		0	0	0.001512	0	0
ZNF831	128611	broad.mit.edu	37	20	57781969	57781969	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:57781969G>A	uc002yan.3	+	2	3885	c.3885G>A	c.(3883-3885)ggG>ggA	p.G1295G		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1295						intracellular	nucleic acid binding|zinc ion binding	p.K1294Q(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGTACAAAGGGAATTTCTTGC	0.537000														102			76		0	0	0.003610	0	0
CADM3	57863	broad.mit.edu	37	1	159163804	159163804	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:159163804C>T	uc001ftl.2	+	4	844	c.665C>T	c.(664-666)tCc>tTc	p.S222F	CADM3_uc009wsy.1_Intron|CADM3_uc001ftk.2_Missense_Mutation_p.S256F	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	Homo sapiens cell adhesion molecule 3 (CADM3), transcript variant 2, mRNA.	222	Ig-like C2-type 1.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	p.T221A(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					GCTGACAGATCCACCTCTCAA	0.507000														13			32		0	0	0.003271	0	0
PLD2	5338	broad.mit.edu	37	17	4721629	4721629	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:4721629T>C	uc002fzc.3	+	18	2084	c.1958T>C	c.(1957-1959)gTt>gCt	p.V653A	PLD2_uc010vsj.2_3'UTR|PLD2_uc002fzd.3_Missense_Mutation_p.V653A	NM_002663	NP_002654	O14939	PLD2_HUMAN	Homo sapiens phospholipase D2 (PLD2), transcript variant 1, mRNA.	653	Catalytic.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	GGGCGGACGGTTCTGAACAAG	0.572000														21			29		0	0	0.002836	0	0
EDAR	10913	broad.mit.edu	37	2	109527359	109527359	+	Silent	SNP	C	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:109527359C>G	uc010fjn.3	-	7	1246	c.699G>C	c.(697-699)ccG>ccC	p.P233P	EDAR_uc010yws.2_Silent_p.P233P|EDAR_uc002teq.4_Intron	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN	Homo sapiens ectodysplasin A receptor (EDAR), mRNA.	217					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity	p.Q232K(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						GGGGAGTTGACGGAGAGTCCA	0.637000														16			8		0	0	0.003080	0	0
BUB1	699	broad.mit.edu	37	2	111414627	111414627	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:111414627G>A	uc002tgc.3	-	14	1796	c.1684C>T	c.(1684-1686)Cct>Tct	p.P562S	BUB1_uc010yxh.2_Missense_Mutation_p.P542S|BUB1_uc010fkb.3_Missense_Mutation_p.P562S	NM_004336	NP_004327	O43683	BUB1_HUMAN	Homo sapiens budding uninhibited by benzimidazoles 1 homolog (yeast) (BUB1), mRNA.	562					apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		GGTTTTGAAGGAAGTCTGCTG	0.383000														8			17		0	0	0.001216	0	0
SARDH	1757	broad.mit.edu	37	9	136578194	136578194	+	Silent	SNP	T	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:136578194T>G	uc004cep.4	-	8	1337	c.1203A>C	c.(1201-1203)cgA>cgC	p.R401R	SARDH_uc004ceo.3_Silent_p.R401R|SARDH_uc011mdo.2_Silent_p.R233R|SARDH_uc011mdn.2_Silent_p.R401R	NM_001134707	NP_009032	Q9UL12	SARDH_HUMAN	Homo sapiens sarcosine dehydrogenase (SARDH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	401					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GGAAGAACCCTCGGAGCTCAG	0.622000														14			5		0	0	0.000602	0	0
CACNA1C	775	broad.mit.edu	37	12	2622135	2622135	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:2622135G>A	uc009zdu.1	+	8	1688	c.1375G>A	c.(1375-1377)Gag>Aag	p.E459K	CACNA1C_uc001qkc.2_Missense_Mutation_p.E459K|CACNA1C_uc001qjz.2_Missense_Mutation_p.E459K|CACNA1C_uc001qkd.2_Missense_Mutation_p.E459K|CACNA1C_uc001qke.2_Missense_Mutation_p.E459K|CACNA1C_uc001qkf.2_Missense_Mutation_p.E459K|CACNA1C_uc009zdw.1_Missense_Mutation_p.E459K|CACNA1C_uc001qkg.2_Missense_Mutation_p.E459K|CACNA1C_uc001qkh.2_Missense_Mutation_p.E459K|CACNA1C_uc001qkl.2_Missense_Mutation_p.E459K|CACNA1C_uc001qkj.2_Missense_Mutation_p.E459K|CACNA1C_uc001qkk.2_Missense_Mutation_p.E459K|CACNA1C_uc001qkn.2_Missense_Mutation_p.E459K|CACNA1C_uc001qkm.2_Missense_Mutation_p.E459K|CACNA1C_uc001qko.2_Missense_Mutation_p.E459K|CACNA1C_uc001qkp.2_Missense_Mutation_p.E459K|CACNA1C_uc001qkq.2_Missense_Mutation_p.E459K|CACNA1C_uc001qku.2_Missense_Mutation_p.E459K|CACNA1C_uc001qkr.2_Missense_Mutation_p.E459K|CACNA1C_uc001qks.2_Missense_Mutation_p.E459K|CACNA1C_uc001qkt.2_Missense_Mutation_p.E459K|CACNA1C_uc009zdv.1_Missense_Mutation_p.E456K|CACNA1C_uc001qkb.2_Missense_Mutation_p.E459K|CACNA1C_uc001qka.1_Intron|CACNA1C_uc001qki.1_Missense_Mutation_p.E195K|CACNA1C_uc009zdy.1_Missense_Mutation_p.E84K|CACNA1C_uc001qkv.1_Missense_Mutation_p.E4K	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	459					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CATGGATGAGGAGAAGCCCCG	0.552000														2			3		0	0	0.004672	0	0
SLC22A2	6582	broad.mit.edu	37	6	160670397	160670397	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:160670397C>T	uc003qtf.3	-	3	867	c.693G>A	c.(691-693)cgG>cgA	p.R231R	SLC22A2_uc003qth.2_3'UTR	NM_003058	NP_003049	O15244	S22A2_HUMAN	Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA.	231					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		TCCGATATCTCCGCCCAACAA	0.458000														49			27		0	0	0.007291	0	0
CAPN13	92291	broad.mit.edu	37	2	30966414	30966414	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:30966414A>T	uc021vfn.1	-	11	1312	c.1280T>A	c.(1279-1281)tTt>tAt	p.F427Y	CAPN13_uc002rnm.3_Non-coding_Transcript|CAPN13_uc021vfm.1_Missense_Mutation_p.F423Y|CAPN13_uc002rno.3_5'UTR	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	427					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					GAACGAGGAAAAAAACACGGG	0.463000														45			35		0	0	0.004289	0	0
CDK13	8621	broad.mit.edu	37	7	40085496	40085496	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:40085496C>T	uc003thh.4	+	5	2697	c.2415C>T	c.(2413-2415)ggC>ggT	p.G805G	CDK13_uc003thi.4_Silent_p.G805G|CDK13_uc011kbf.2_Silent_p.G191G	NM_003718	NP_003709	Q14004	CDK13_HUMAN	Homo sapiens cyclin-dependent kinase 13 (CDK13), transcript variant 1, mRNA.	805	Protein kinase.				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						TGGAATCAGGCTTGGTTCATT	0.328000														3			88		0	0	0.003610	0	0
ZNF234	10780	broad.mit.edu	37	19	44660892	44660892	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:44660892C>T	uc002oym.3	+	5	1030	c.723C>T	c.(721-723)ttC>ttT	p.F241F	ZNF234_uc002oyl.4_Silent_p.F241F	NM_006630	NP_006621	Q14588	ZN234_HUMAN	Homo sapiens zinc finger protein 234 (ZNF234), transcript variant 1, mRNA.	241					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				GGAAAGGCTTCAGTCGTAGAT	0.423000														54			37		0	0	0.007835	0	0
PSIP1	11168	broad.mit.edu	37	9	15469277	15469277	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:15469277T>C	uc003zlv.4	-	11	1421	c.1091A>G	c.(1090-1092)aAa>aGa	p.K364R	PSIP1_uc003zlw.4_Missense_Mutation_p.K364R	NM_033222	NP_150091	O75475	PSIP1_HUMAN	Homo sapiens PC4 and SFRS1 interacting protein 1 (PSIP1), transcript variant 2, mRNA.	364					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	DNA secondary structure binding|RNA polymerase II transcription coactivator activity|activating transcription factor binding|chromatin binding			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		ATTATCAATTTTGAGTGAATT	0.274000														14			21		0	0	0.004656	0	0
PTPN13	5783	broad.mit.edu	37	4	87622698	87622698	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:87622698C>T	uc003hpz.3	+	6	1419	c.939C>T	c.(937-939)ttC>ttT	p.F313F	PTPN13_uc003hpy.3_Silent_p.F313F|PTPN13_uc003hqa.3_Silent_p.F313F|PTPN13_uc003hqb.3_Silent_p.F313F	NM_080683	NP_542414	Q12923	PTN13_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) (PTPN13), transcript variant 1, mRNA.	313						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		ACAGAGACTTCTCTTCAGGAG	0.473000														25			14		0	0	0.004990	0	0
ACAP2	23527	broad.mit.edu	37	3	195022365	195022365	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:195022365C>T	uc003fun.4	-	14	1575	c.1334G>A	c.(1333-1335)gGg>gAg	p.G445E		NM_012287	NP_036419	Q15057	ACAP2_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 (ACAP2), mRNA.	445	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						AAAATGAACCCCAAGGCTCCT	0.338000														23			16		0	0	0.006122	0	0
OBSCN	84033	broad.mit.edu	37	1	228505416	228505416	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:228505416G>T	uc009xez.1	+	51	13857	c.13813G>T	c.(13813-13815)Ggg>Tgg	p.G4605W	OBSCN_uc001hsn.3_Missense_Mutation_p.G4605W	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	4605	Fibronectin type-III 3.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGTGGGTGCTGGGGAACCGGT	0.667000														28			50		1.22587e-43	1.72445e-43	0.003610	1	0
B9D2	80776	broad.mit.edu	37	19	41863860	41863861	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:41863860_41863861CC>TT	uc002oqj.2	-	2	375_376	c.155_156GG>AA	c.(154-156)ggg>gAA	p.G52E	BCKDHA_uc002oqi.3_Intron	NM_030578	NP_085055	Q9BPU9	B9D2_HUMAN	Homo sapiens B9 protein domain 2 (B9D2), mRNA.	52	B9.				cilium assembly|mitotic prometaphase	centrosome|cilium axoneme|cytosol|microtubule basal body|nucleus	gamma-tubulin binding			large_intestine(1)|ovary(1)	2						AAGCCATGTCCCCTATCTGCGG	0.644000														24			17		0	0	0.004672	0	0
LRTM1	57408	broad.mit.edu	37	3	54958972	54958972	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:54958972G>A	uc003dhl.3	-	1	412	c.278C>T	c.(277-279)gCt>gTt	p.A93V	CACNA2D3_uc003dhf.3_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 1 (LRTM1), mRNA.	93						integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		CCCATGGAAAGCTCCAGGGGC	0.468000														7			15		0	0	0.003163	0	0
PTPRT	11122	broad.mit.edu	37	20	40877330	40877330	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:40877330C>T	uc002xkg.3	-	13	2493	c.2309G>A	c.(2308-2310)aGg>aAg	p.R770K	PTPRT_uc010ggj.3_Missense_Mutation_p.R789K	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	770					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.V769M(1)		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)				GACTCACCTCCTTTTGATGGT	0.547000														41			33		0	0	0.003271	0	0
LHCGR	3973	broad.mit.edu	37	2	48958396	48958396	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:48958396G>A	uc002rwu.4	-	1	273	c.203C>T	c.(202-204)gCt>gTt	p.A68V	STON1-GTF2A1L_uc021vhf.1_Intron|LHCGR_uc002rwv.2_Non-coding_Transcript	NM_000233	NP_000224	P22888	LSHR_HUMAN	Homo sapiens luteinizing hormone/choriogonadotropin receptor (LHCGR), mRNA.	68				A -> S (in Ref. 3; AAA70231).	male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	TCCTCTGAAAGCTTGAGATGG	0.333000														31			16		0	0	0.001523	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891277	18891277	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:18891277G>A	uc001rdy.3	+	0	233	c.75G>A	c.(73-75)ggG>ggA	p.G25G	PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank	NM_033328	NP_201585	Q96KX2	CAZA3_HUMAN	Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA.	25					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				CCCCTCCAGGGGAATTTGTAA	0.458000														11			17		0	0	0.004007	0	0
FAM70A	55026	broad.mit.edu	37	X	119410865	119410865	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:119410865C>T	uc004eso.4	-	7	849	c.622G>A	c.(622-624)Gat>Aat	p.D208N	FAM70A_uc004esp.4_Missense_Mutation_p.D184N|FAM70A_uc010nqo.3_Intron	NM_017938	NP_060408	Q5JRV8	FA70A_HUMAN	Homo sapiens family with sequence similarity 70, member A (FAM70A), transcript variant 1, mRNA.	208						integral to membrane		p.I207I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(7)|lung(4)|prostate(2)	19						CTGCTGACATCGATGTATTCG	0.587000														4			38		0	0	0.006999	0	0
TNXB	7148	broad.mit.edu	37	6	32030125	32030125	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:32030125G>A	uc003nzl.2	-	19	7179	c.6977C>T	c.(6976-6978)cCc>cTc	p.P2326L		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2388	Fibronectin type-III 15.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTGTCCCTCGGGAACCGTCCA	0.617000														138			183		0	0	0.003610	0	0
C20orf96	140680	broad.mit.edu	37	20	257922	257922	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:257922G>A	uc002wde.2	-	6	836	c.668C>T	c.(667-669)tCt>tTt	p.S223F	C20orf96_uc021vzl.1_Missense_Mutation_p.S222F|C20orf96_uc010zpi.2_Missense_Mutation_p.S170F|C20orf96_uc010zpj.1_Missense_Mutation_p.S188F|C20orf96_uc010zpk.2_Missense_Mutation_p.S161F	NM_153269	NP_695001	Q9NUD7	CT096_HUMAN	Homo sapiens chromosome 20 open reading frame 96 (C20orf96), transcript variant 1, mRNA.	223										endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GATCTGGACAGACTTGATGGA	0.557000														90			86		0	0	0.003610	0	0
SAMD11	148398	broad.mit.edu	37	1	879085	879086	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:879085_879086GG>AA	uc001abw.1	+	12	1777_1778	c.1697_1698GG>AA	c.(1696-1698)agg>aAA	p.R566K	SAMD11_uc001abx.1_Missense_Mutation_p.R429K	NM_152486	NP_689699	Q96NU1	SAM11_HUMAN	Homo sapiens sterile alpha motif domain containing 11 (SAMD11), mRNA.	566	SAM.					nucleus				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		CAGGTCTTCAGGGAGCAGGGGA	0.668000														13			5		0	0	0.004672	0	0
COL6A2	1292	broad.mit.edu	37	21	47541503	47541503	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr21:47541503C>T	uc002zia.1	+	17	1574	c.1492C>T	c.(1492-1494)Cgt>Tgt	p.R498C	COL6A2_uc002zhz.1_Missense_Mutation_p.R498C|COL6A2_uc002zhy.1_Missense_Mutation_p.R498C	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	498	Triple-helical region.		R -> H (in UCMD).		axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		TGCAGGACCCCGTGGAGACTC	0.657000														9			19		0	0	0.004656	0	0
TIAM2	26230	broad.mit.edu	37	6	155569312	155569313	+	Splice_Site	DNP	GG	AA	AA	rs147559685		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:155569312_155569313GG>AA	uc003qqb.3	+	22	5105	c.3832_splice	c.e22+1	p.E1278_splice	TIAM2_uc003qqe.3_Splice_Site_p.E1278_splice|TIAM2_uc010kjj.3_Splice_Site_p.E811_splice|TIAM2_uc003qqf.3_Splice_Site_p.E654_splice|TIAM2_uc011efl.1_Splice_Site_p.E614_splice|TIAM2_uc003qqg.3_Splice_Site_p.E590_splice|TIAM2_uc003qqh.3_Splice_Site_p.E203_splice	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	1278	DH.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		ACCACCTGACGGGTGAGGCGGC	0.683000											OREG0017745	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		13			9		0	0	0.004672	0	0
SH3RF2	153769	broad.mit.edu	37	5	145393495	145393495	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:145393495G>A	uc003lnt.3	+	4	1168	c.930G>A	c.(928-930)cgG>cgA	p.R310R	SH3RF2_uc011dbl.1_Silent_p.R310R	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	310							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCTCAACCGGATGGTCCATT	0.582000														52			41		0	0	0.006999	0	0
GTF3C1	2975	broad.mit.edu	37	16	27504563	27504563	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:27504563G>A	uc002dov.2	-	16	2873	c.2833C>T	c.(2833-2835)Cgc>Tgc	p.R945C	GTF3C1_uc002dou.3_Missense_Mutation_p.R945C	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	945						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GGGAGAAAGCGGATCAGCGTG	0.567000														31			16		0	0	0.001523	0	0
CAMTA1	23261	broad.mit.edu	37	1	7796526	7796527	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:7796526_7796527CC>TT	uc001aoi.3	+	12	3396_3397	c.3189_3190CC>TT	c.(3187-3192)ttccgc>ttTTgc	p.R1064C	CAMTA1_uc010nzv.1_Missense_Mutation_p.R151C|CAMTA1_uc001aok.4_Missense_Mutation_p.R107C|CAMTA1_uc001aoj.3_Missense_Mutation_p.R20C	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	1064					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CAAAGACTTTCCGCGGAATGAC	0.594000			T	WWTR1	epitheliod hemangioendothelioma									27			41		0	0	0.004672	0	0
SON	6651	broad.mit.edu	37	21	34945679	34945679	+	Silent	SNP	C	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr21:34945679C>G	uc002yse.1	+	8	7000	c.6951C>G	c.(6949-6951)ggC>ggG	p.G2317G	SON_uc002ysd.3_Silent_p.G1308G|SON_uc002ysf.1_Silent_p.G345G|SON_uc002ysh.3_Silent_p.G10G	NM_138927	NP_620305	P18583	SON_HUMAN	Homo sapiens SON DNA binding protein (SON), transcript variant f, mRNA.	2317	G-patch.				RNA splicing|anti-apoptosis|cytokinesis|mRNA processing|regulation of RNA splicing|regulation of cell cycle|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						GAAAAATGGGCTGGAGAGAAG	0.408000														30			16		0	0	0.004007	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94639588	94639588	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:94639588T>G	uc001dqj.4	-	22	3992	c.3623A>C	c.(3622-3624)gAc>gCc	p.D1208A	ARHGAP29_uc009wdq.1_Intron	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	1208					Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TTTGTCTGGGTCTGGCATTGA	0.537000														2			26		0	0	0.005443	0	0
SLC25A20	788	broad.mit.edu	37	3	48896047	48896047	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:48896047G>A	uc003cva.4	-	7	935	c.736C>T	c.(736-738)Cct>Tct	p.P246S	SLC25A20_uc011bbw.2_Missense_Mutation_p.P196S	NM_000387	NP_000378	O43772	MCAT_HUMAN	Homo sapiens solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 (SLC25A20), nuclear gene encoding mitochondrial protein, mRNA.	246					carnitine shuttle|cellular lipid metabolic process|regulation of fatty acid oxidation	integral to membrane|mitochondrial inner membrane	acyl carnitine transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000168)|Kidney(197;0.00231)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	L-Carnitine(DB00583)	AAACCATTAGGATATTTCCCA	0.498000														54			9		0	0	0.004482	0	0
NLRP1	22861	broad.mit.edu	37	17	5424894	5424894	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:5424894C>T	uc002gci.3	-	12	4288	c.3733G>A	c.(3733-3735)Gaa>Aaa	p.E1245K	NLRP1_uc002gcg.1_Missense_Mutation_p.E1249K|NLRP1_uc002gch.4_Missense_Mutation_p.E1245K|NLRP1_uc002gck.3_Missense_Mutation_p.E1245K|NLRP1_uc002gcj.3_Missense_Mutation_p.E1215K|NLRP1_uc002gcl.3_Missense_Mutation_p.E1215K	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	1245					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				AAGGTGACTTCCTCAGGATGG	0.547000														21			17		0	0	0.004990	0	0
ELTD1	64123	broad.mit.edu	37	1	79383564	79383564	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:79383564C>T	uc001diq.4	-	10	1789	c.1633G>A	c.(1633-1635)Gtt>Att	p.V545I		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	545					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GAAAATCCAACTACCACGGCT	0.373000														5			7		0	0	0.003080	0	0
OR6C2	341416	broad.mit.edu	37	12	55846490	55846490	+	Missense_Mutation	SNP	G	A	A	rs140332483		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:55846490G>A	uc001sgz.1	+	0	493	c.493G>A	c.(493-495)Gaa>Aaa	p.E165K		NM_054105	NP_473446	Q9NZP2	OR6C2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 2 (OR6C2), mRNA.	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E165K(2)		kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						CCTCCAGCTCGAATTCTGTGA	0.448000														23			6		0	0	0.001984	0	0
KIAA1683	80726	broad.mit.edu	37	19	18368682	18368682	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:18368682G>A	uc010ebn.2	-	3	3628	c.3412C>T	c.(3412-3414)Cgg>Tgg	p.R1138W	PDE4C_uc002nil.4_5'Flank|PDE4C_uc021uql.1_5'Flank|KIAA1683_uc002nin.2_Missense_Mutation_p.R951W|KIAA1683_uc010xqe.1_Missense_Mutation_p.R905W|KIAA1683_uc010xqf.1_Non-coding_Transcript	NM_001145304	NP_001138776	Q9H0B3	K1683_HUMAN	Homo sapiens KIAA1683 (KIAA1683), transcript variant 1, mRNA.	1138	IQ 5.|IQ 6.					mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ATGGCCCCCCGGTGCCACAGC	0.667000														24			36		0	0	0.004878	0	0
LNX2	222484	broad.mit.edu	37	13	28136562	28136562	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:28136562G>A	uc001url.4	-	4	1521	c.1212C>T	c.(1210-1212)gcC>gcT	p.A404A	LNX2_uc001urm.1_Silent_p.A404A	NM_153371	NP_699202	Q8N448	LNX2_HUMAN	Homo sapiens ligand of numb-protein X 2 (LNX2), mRNA.	404	PDZ 2.						zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		GAATAATCTGGGCAGCAAGCT	0.502000														49			24		0	0	0.003954	0	0
PLA1A	51365	broad.mit.edu	37	3	119336889	119336889	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:119336889C>T	uc003ecu.3	+	6	844	c.778C>T	c.(778-780)Cac>Tac	p.H260Y	PLA1A_uc003ecv.3_Missense_Mutation_p.H244Y|PLA1A_uc011bjc.2_Missense_Mutation_p.H87Y|PLA1A_uc003ecw.3_Non-coding_Transcript	NM_015900	NP_001193890	Q53H76	PLA1A_HUMAN	Homo sapiens phospholipase A1 member A (PLA1A), transcript variant 1, mRNA.	260					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity	p.H260Y(2)|p.D259H(1)		NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GATCTGTGATCACATGAGGGC	0.463000														95			45		0	0	0.003610	0	0
AKAP6	9472	broad.mit.edu	37	14	33201778	33201778	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:33201778C>T	uc001wrq.3	+	9	3289	c.3119C>T	c.(3118-3120)tCa>tTa	p.S1040L	AKAP6_uc010aml.3_Missense_Mutation_p.S1037L	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	1040					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AAAGTGGATTCAATTAATGAA	0.373000														14			10		0	0	0.000978	0	0
NDE1	54820	broad.mit.edu	37	16	15758664	15758664	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:15758664C>T	uc002ddt.1	+	0	72	c.29C>T	c.(28-30)tCc>tTc	p.S10F	NDE1_uc010uzy.2_Missense_Mutation_p.S10F|NDE1_uc002dds.3_Missense_Mutation_p.S10F	NM_017668	NP_060138	Q9NXR1	NDE1_HUMAN	Homo sapiens nudE nuclear distribution gene E homolog 1 (A. nidulans) (NDE1), transcript variant 2, mRNA.	10	Self-association (By similarity).				G2/M transition of mitotic cell cycle|cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|mitotic prometaphase|nervous system development	cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome	microtubule binding			endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						ACTTTCAGCTCCGAGGAGGAA	0.438000														90			56		0	0	0.003610	0	0
FAHD2A	51011	broad.mit.edu	37	2	96078440	96078440	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:96078440C>T	uc002sur.3	+	6	989	c.810C>T	c.(808-810)taC>taT	p.Y270Y	AX747836_uc002sut.1_5'Flank	NM_016044	NP_057128	Q96GK7	FAH2A_HUMAN	Homo sapiens fumarylacetoacetate hydrolase domain containing 2A (FAHD2A), mRNA.	270							hydrolase activity|metal ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	8						TTACCTTTTACCCAGGGGATG	0.552000														3			11		0	0	0.001368	0	0
SLC35F5	80255	broad.mit.edu	37	2	114513101	114513101	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:114513101G>A	uc002tku.1	-	1	475	c.61C>T	c.(61-63)Cct>Tct	p.P21S	SLC35F5_uc002tkt.3_Non-coding_Transcript|SLC35F5_uc002tkv.3_Missense_Mutation_p.P15S	NM_025181	NP_079457	Q8WV83	S35F5_HUMAN	Homo sapiens solute carrier family 35, member F5 (SLC35F5), mRNA.	21					transport	integral to membrane				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						AGTCTAAAAGGAGGTGAAGAA	0.393000														22			7		0	0	0.003080	0	0
GPR152	390212	broad.mit.edu	37	11	67219722	67219722	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:67219722C>T	uc001olm.3	-	0	479	c.474G>A	c.(472-474)ctG>ctA	p.L158L	CABP4_uc009yrw.1_5'Flank|CABP4_uc001oln.3_5'Flank	NM_206997	NP_996880	Q8TDT2	GP152_HUMAN	Homo sapiens G protein-coupled receptor 152 (GPR152), mRNA.	158						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			AGAGTGTGGCCAGCACCCAGA	0.682000														19			14		0	0	0.004007	0	0
OR8S1	341568	broad.mit.edu	37	12	48921816	48921816	+	Missense_Mutation	SNP	C	T	T	rs111309347		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:48921816C>T	uc010slu.2	+	1	1010	c.1010C>T	c.(1009-1011)cCg>cTg	p.P337L		NM_001005203	NP_001005203	Q8NH09	OR8S1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily S, member 1 (OR8S1), mRNA.	337					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						CTGAGCATTCCGGTCACGCCT	0.672000														6			10		0	0	0.006214	0	0
DNAH12	201625	broad.mit.edu	37	3	57496597	57496597	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:57496597C>T	uc003dit.2	-	4	570	c.389G>A	c.(388-390)gGg>gAg	p.G130E	DNAH12_uc003diu.2_Missense_Mutation_p.G130E	NM_178504	NP_848599	Q6ZR08	DYH12_HUMAN	Homo sapiens dynein, axonemal, heavy chain 12 (DNAH12), transcript variant 1, mRNA.	130	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TCTTTCTTTCCCTTCCTTTAA	0.373000														21			30		0	0	0.002836	0	0
SIK1	150094	broad.mit.edu	37	21	44840298	44840298	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr21:44840298G>A	uc002zdf.2	-	7	915	c.788C>T	c.(787-789)cCc>cTc	p.P263L		NM_173354	NP_775490	P57059	SIK1_HUMAN	Homo sapiens salt-inducible kinase 1 (SIK1), mRNA.	263	Protein kinase.				anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						GCGCCTGGCGGGGTCCACCAC	0.726000														17			16		0	0	0.001216	0	0
LHFPL5	222662	broad.mit.edu	37	6	35773644	35773644	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:35773644C>T	uc003olg.1	+	0	574	c.197C>T	c.(196-198)tCc>tTc	p.S66F		NM_182548	NP_872354	Q8TAF8	TMHS_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 5 (LHFPL5), mRNA.	66						integral to membrane				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						GGCCTTTTCTCCTACTGCGTG	0.587000														69			65		0	0	0.003610	0	0
LAMA4	3910	broad.mit.edu	37	6	112435333	112435333	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:112435333G>A	uc003pvu.2	-	37	5581	c.5272C>T	c.(5272-5274)Ctg>Ttg	p.L1758L	LAMA4_uc003pvv.2_Silent_p.L1751L|LAMA4_uc003pvt.2_Silent_p.L1751L	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA.	1758	Laminin G-like 5.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TTTGGATTCAGGGGTCCAACC	0.428000														24			28		0	0	0.004656	0	0
TTN	7273	broad.mit.edu	37	2	179395115	179395115	+	Silent	SNP	T	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:179395115T>C	uc021vsy.1	-	306	98748	c.98523A>G	c.(98521-98523)gaA>gaG	p.E32841E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.E26536E|TTN_uc021vta.1_Silent_p.E26469E|TTN_uc021vtb.1_Silent_p.E26344E|TTN_uc002umq.3_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	33768							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGCTTTTGGTTCAGTTTTTC	0.378000														51			24		0	0	0.006320	0	0
ANKRD13A	88455	broad.mit.edu	37	12	110450985	110450985	+	Silent	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:110450985A>G	uc001tpx.3	+	2	544	c.285A>G	c.(283-285)caA>caG	p.Q95Q	ANKRD13A_uc009zvl.1_Non-coding_Transcript|ANKRD13A_uc009zvm.2_Silent_p.Q95Q|ANKRD13A_uc010sxw.2_Silent_p.Q95Q	NM_033121	NP_149112	Q8IZ07	AN13A_HUMAN	Homo sapiens ankyrin repeat domain 13A (ANKRD13A), mRNA.	95										endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						CAGTTCTCCAACATCGAGACT	0.443000														13			19		0	0	0.001216	0	0
NME6	10201	broad.mit.edu	37	3	48336567	48336567	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:48336567G>A	uc003cso.3	-	4	462	c.416C>T	c.(415-417)tCg>tTg	p.S139L	NME6_uc011bbh.2_Missense_Mutation_p.R118W|NME6_uc010hju.3_Missense_Mutation_p.S33L|NME6_uc003csp.4_Missense_Mutation_p.S131L|NME6_uc011bbi.2_Intron	NM_005793	NP_005784	O75414	NDK6_HUMAN	Homo sapiens non-metastatic cells 6, protein expressed in (nucleoside-diphosphate kinase) (NME6), mRNA.	131					CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|anti-apoptosis|apoptosis|negative regulation of cell growth|negative regulation of mitosis	mitochondrion	ATP binding|metal ion binding|nucleoside diphosphate kinase activity			breast(1)|large_intestine(5)	6				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		GGACTCACCCGAACCATGGGT	0.577000														44			21		0	0	0.003330	0	0
TBC1D2	55357	broad.mit.edu	37	9	100971427	100971427	+	Splice_Site	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:100971427C>T	uc011lvb.2	-	9	1854	c.1674_splice	c.e9-1	p.S558_splice	TBC1D2_uc004ayp.3_Splice_Site_p.S98_splice|TBC1D2_uc004ayq.3_Splice_Site_p.S558_splice|TBC1D2_uc004ayr.3_Splice_Site_p.S340_splice	NM_018421	NP_060891	Q9BYX2	TBD2A_HUMAN	Homo sapiens TBC1 domain family, member 2 (TBC1D2), mRNA.	558						cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		ATCATACTTACTGCCAGCAAA	0.577000														110			116		0	0	0.003610	0	0
LARP4	113251	broad.mit.edu	37	12	50869446	50869446	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:50869446G>A	uc001rwp.2	+	15	2176	c.1974G>A	c.(1972-1974)gaG>gaA	p.E658E	LARP4_uc001rwq.2_Silent_p.E587E|LARP4_uc001rwt.2_Silent_p.E516E|LARP4_uc001rws.2_Silent_p.E657E|LARP4_uc001rwr.2_Silent_p.E587E|LARP4_uc021qxv.1_Silent_p.E588E|LARP4_uc009zlr.1_Silent_p.E457E	NM_052879	NP_443111	Q71RC2	LARP4_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4 (LARP4), transcript variant 1, mRNA.	658							RNA binding|nucleotide binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						GAGCTCCTGAGAACTCCGTTG	0.498000														53			24		0	0	0.003330	0	0
SUV420H1	51111	broad.mit.edu	37	11	67926252	67926252	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:67926252G>T	uc001onm.1	-	10	1817	c.1561C>A	c.(1561-1563)Cct>Act	p.P521T	SUV420H1_uc009yse.1_Missense_Mutation_p.P107T|SUV420H1_uc001onn.1_Missense_Mutation_p.P349T|SUV420H1_uc009ysf.2_Missense_Mutation_p.P281T	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN	Homo sapiens suppressor of variegation 4-20 homolog 1 (Drosophila) (SUV420H1), transcript variant 1, mRNA.	521					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						CCTCTCACAGGATTCTGTCTG	0.552000														37			22		3.5997e-14	5.02565e-14	0.002299	1	0
RUNX1T1	862	broad.mit.edu	37	8	92999138	92999138	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:92999138C>T	uc022axs.1	-	7	1418	c.1231G>A	c.(1231-1233)Gaa>Aaa	p.E411K	RUNX1T1_uc003yfc.2_Missense_Mutation_p.E325K|RUNX1T1_uc010mam.3_Missense_Mutation_p.E325K|RUNX1T1_uc003yfe.2_Missense_Mutation_p.E315K|RUNX1T1_uc003yfd.3_Missense_Mutation_p.E352K|RUNX1T1_uc022axo.1_Missense_Mutation_p.E352K|RUNX1T1_uc010mao.3_Missense_Mutation_p.E325K|RUNX1T1_uc011lgi.2_Missense_Mutation_p.E363K|RUNX1T1_uc022axp.1_Missense_Mutation_p.E352K|RUNX1T1_uc022axq.1_Missense_Mutation_p.E352K|RUNX1T1_uc022axr.1_Missense_Mutation_p.E352K|RUNX1T1_uc022axt.1_Missense_Mutation_p.E352K|RUNX1T1_uc022axu.1_Missense_Mutation_p.E332K|RUNX1T1_uc022axv.1_Missense_Mutation_p.E352K|RUNX1T1_uc010man.2_5'UTR|RUNX1T1_uc003yfb.2_Missense_Mutation_p.E315K	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	352	Poly-Ser.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TTCCACTCTTCTGCCCATTCT	0.368000														48			14		0	0	0.004007	0	0
CLYBL	171425	broad.mit.edu	37	13	100517153	100517153	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:100517153C>T	uc001vok.3	+	4	653	c.622C>T	c.(622-624)Cga>Tga	p.R208*	CLYBL_uc010tix.2_Nonsense_Mutation_p.R208*|CLYBL_uc010tiy.2_Nonsense_Mutation_p.R174*	NM_206808	NP_996531	Q8N0X4	CLYBL_HUMAN	Homo sapiens citrate lyase beta like (CLYBL), mRNA.	208					cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding			NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AGAAGACTTTCGAGCCAGCAT	0.443000														42			29		0	0	0.001786	0	0
DDX10	1662	broad.mit.edu	37	11	108544193	108544193	+	Splice_Site	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:108544193G>A	uc001pkm.3	+	2	252	c.187_splice	c.e2-1	p.I63_splice	DDX10_uc001pkl.1_Splice_Site_p.I63_splice	NM_004398	NP_004389	Q13206	DDX10_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 (DDX10), mRNA.	63							ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		TTTTTTTCCAGATAAATGTAA	0.353000			T	NUP98	AML*									13			10		0	0	0.000978	0	0
BCAS4	55653	broad.mit.edu	37	20	49446839	49446839	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:49446839C>T	uc002xvq.3	+	2	340	c.276C>T	c.(274-276)atC>atT	p.I92I	BCAS4_uc002xvp.1_Silent_p.I92I|BCAS4_uc002xvr.3_Silent_p.I92I|BCAS4_uc002xvs.3_Silent_p.I92I	NM_017843	NP_060313	Q8TDM0	BCAS4_HUMAN	Homo sapiens breast carcinoma amplified sequence 4 (BCAS4), transcript variant 1, mRNA.	92						cytoplasm				large_intestine(2)|lung(2)|pancreas(1)|upper_aerodigestive_tract(1)	6						CTTCACAGATCCTGGAGGAAA	0.527000														24			14		0	0	0.002450	0	0
C2orf71	388939	broad.mit.edu	37	2	29297043	29297043	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:29297043G>A	uc002rmt.2	-	0	85	c.85C>T	c.(85-87)Cgg>Tgg	p.R29W		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	29					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CATCCTGGCCGAATTGCTTTG	0.512000														38			26		0	0	0.005443	0	0
PLEKHH1	57475	broad.mit.edu	37	14	68048918	68048918	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:68048918G>A	uc001xjl.1	+	23	3559	c.3417G>A	c.(3415-3417)ctG>ctA	p.L1139L	PLEKHH1_uc010tsw.1_Silent_p.L707L|PLEKHH1_uc001xjn.1_Silent_p.L654L|PLEKHH1_uc010tsx.1_Silent_p.L4L|PLEKHH1_uc001xjo.1_Silent_p.L4L|PLEKHH1_uc001xjp.1_Silent_p.L4L	NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 (PLEKHH1), mRNA.	1139	FERM.					cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		TGGCTGCCCTGATGGCCCAGG	0.532000														14			13		0	0	0.002450	0	0
SCAND3	114821	broad.mit.edu	37	6	28540405	28540405	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:28540405G>A	uc003nlo.3	-	3	3879	c.3261C>T	c.(3259-3261)ccC>ccT	p.P1087P		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	1087					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						gggaccacatgggtttcttgc	0.378000														15			12		0	0	0.000978	0	0
MYEOV	26579	broad.mit.edu	37	11	69063580	69063580	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:69063580G>A	uc001oov.3	+	2	1113	c.663G>A	c.(661-663)ctG>ctA	p.L221L	MYEOV_uc001oox.3_Intron|MYEOV_uc009ysl.3_Silent_p.L221L|MYEOV_uc001oow.3_Silent_p.L163L	NM_138768	NP_620123	Q96EZ4	MYEOV_HUMAN	Homo sapiens myeloma overexpressed (in a subset of t(11;14) positive multiple myelomas) (MYEOV), mRNA.	221										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		GCATGACCCTGGCAGAATCGA	0.632000														41			27		0	0	0.001786	0	0
ACVRL1	94	broad.mit.edu	37	12	52309151	52309151	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:52309151C>T	uc001rzj.3	+	6	1198	c.915C>T	c.(913-915)tcC>tcT	p.S305S	ACVRL1_uc001rzk.3_Silent_p.S305S|ACVRL1_uc010snm.2_Silent_p.S131S	NM_000020	NP_001070869	P37023	ACVL1_HUMAN	Homo sapiens activin A receptor type II-like 1 (ACVRL1), transcript variant 1, mRNA.	305	Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of DNA replication|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	ATP binding|SMAD binding|activin binding|activin receptor activity, type I|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	TAGCTGTGTCCGCGGCATGCG	0.617000														17			16		0	0	0.007413	0	0
CEP350	9857	broad.mit.edu	37	1	180022222	180022222	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:180022222A>C	uc001gnt.3	+	22	5293	c.4910A>C	c.(4909-4911)aAc>aCc	p.N1637T	CEP350_uc009wxl.2_Missense_Mutation_p.N1636T	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	1637						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CGCAGATTTAACATGGAAAAG	0.373000														31			6		0	0	0.001168	0	0
ROCK2	9475	broad.mit.edu	37	2	11362253	11362253	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:11362253G>A	uc002rbd.1	-	7	1504	c.1055C>T	c.(1054-1056)cCt>cTt	p.P352L		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Homo sapiens Rho-associated, coiled-coil containing protein kinase 2 (ROCK2), mRNA.	352	Protein kinase.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		CTTAAAGAAAGGATGCTGTCT	0.313000														62			39		0	0	0.003610	0	0
TTC7B	145567	broad.mit.edu	37	14	91059966	91059967	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:91059966_91059967GG>AA	uc001xyp.3	-	17	2092_2093	c.1970_1971CC>TT	c.(1969-1971)tcc>tTT	p.S657F	TTC7B_uc001xyo.3_Missense_Mutation_p.S101F|TTC7B_uc010ats.3_Non-coding_Transcript	NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN	Homo sapiens tetratricopeptide repeat domain 7B (TTC7B), mRNA.	657							binding	p.S657S(2)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				TGGCATGGACGGAGCCTGTGAG	0.579000														32			23		0	0	0.004672	0	0
WDFY1	57590	broad.mit.edu	37	2	224759028	224759028	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:224759028G>T	uc002vnq.3	-	7	805	c.754C>A	c.(754-756)Cag>Aag	p.Q252K		NM_020830	NP_065881	Q8IWB7	WDFY1_HUMAN	Homo sapiens WD repeat and FYVE domain containing 1 (WDFY1), mRNA.	252						cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		CTGGTGAGCTGAAGGTAGCAC	0.517000														29			7		0.000442599	0.000610493	0.006214	1	0
PCDHAC2	56134	broad.mit.edu	37	5	140255189	140255189	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:140255189C>T	uc003lic.2	+	0	259	c.132C>T	c.(130-132)ttC>ttT	p.F44F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Silent_p.F44F	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	57	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.L44Q(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGCACCTTCGTGGGCCGCA	0.667000														33			27		0	0	0.001786	0	0
POTEH	23784	broad.mit.edu	37	22	16287524	16287524	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:16287524C>T	uc010gqp.2	-	0	414	c.362G>A	c.(361-363)gGa>gAa	p.G121E	POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_Intron	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	121										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						GTCGTGGTCTCCAGAAGTGCC	0.587000														119			82		0	0	0.003610	0	0
MAP4	4134	broad.mit.edu	37	3	47896767	47896767	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:47896767C>T	uc003csb.2	-	16	3758	c.3232G>A	c.(3232-3234)Ggc>Agc	p.G1078S	MAP4_uc003csc.3_Missense_Mutation_p.G1078S|MAP4_uc003crw.2_Missense_Mutation_p.G157S|MAP4_uc003crx.2_Missense_Mutation_p.G254S|MAP4_uc011bbe.1_Missense_Mutation_p.G791S|MAP4_uc003csa.3_Missense_Mutation_p.G744S|MAP4_uc003crz.4_Non-coding_Transcript	NM_002375	NP_002366	P27816	MAP4_HUMAN	Homo sapiens microtubule-associated protein 4 (MAP4), transcript variant 1, mRNA.	1078					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		GGTAGGTGGCCCACATTATCG	0.557000														41			39		0	0	0.002522	0	0
SRCAP	10847	broad.mit.edu	37	16	30721292	30721292	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:30721292G>T	uc002dze.1	+	7	1362	c.977G>T	c.(976-978)cGt>cTt	p.R326L	SRCAP_uc021tgn.1_Missense_Mutation_p.R326L|SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.R183L|SNORA30_uc002dzh.1_5'Flank	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	326	Glu-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CTGCTTCGCCGTGAGGGAGAA	0.542000														19			10		3.03607e-14	4.24028e-14	0.001368	1	0
AQP9	366	broad.mit.edu	37	15	58430789	58430789	+	Missense_Mutation	SNP	G	A	A	rs150714814		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:58430789G>A	uc002aez.2	+	0	382	c.25G>A	c.(25-27)Gga>Aga	p.G9R	ALDH1A2_uc010ugw.2_Intron|AQP9_uc010ugx.1_Intron	NM_020980	NP_066190	O43315	AQP9_HUMAN	Homo sapiens aquaporin 9 (AQP9), mRNA.	9					cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		AGCAGAAAAGGGAAAAAGCTT	0.473000														13			27		0	0	0.007291	0	0
OR1N2	138882	broad.mit.edu	37	9	125315497	125315497	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:125315497A>T	uc011lyx.2	+	0	49	c.49A>T	c.(49-51)Aaa>Taa	p.K17*		NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 2 (OR1N2), mRNA.	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						AGGGATGGGAAAACCAGGCAG	0.453000														28			13		0	0	0.002450	0	0
OSCP1	127700	broad.mit.edu	37	1	36897419	36897419	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:36897419T>C	uc001caq.3	-	3	616	c.500A>G	c.(499-501)cAa>cGa	p.Q167R	OSCP1_uc021olk.1_Missense_Mutation_p.Q177R|OSCP1_uc001car.3_Missense_Mutation_p.Q167R	NM_145047	NP_659484	Q8WVF1	OSCP1_HUMAN	Homo sapiens organic solute carrier partner 1 (OSCP1), transcript variant 1, mRNA.	177					transport	basal plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	22						GTGCAGGTCTTGGAAGAAGAT	0.527000														30			12		0	0	0.002450	0	0
SYT15	83849	broad.mit.edu	37	10	46967675	46967675	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:46967675G>A	uc001jea.3	-	3	555	c.402C>T	c.(400-402)ttC>ttT	p.F134F	SYT15_uc001jdz.2_Silent_p.F134F|SYT15_uc001jeb.3_Silent_p.F12F|SYT15_uc010qfp.1_Non-coding_Transcript	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN	Homo sapiens synaptotagmin XV (SYT15), transcript variant a, mRNA.	134						integral to membrane|plasma membrane		p.P133L(1)		cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						TGTCCTCCGGGAACTTGTACA	0.627000														106			22		0	0	0.003330	0	0
FAM219B	57184	broad.mit.edu	37	15	75195110	75195110	+	Silent	SNP	C	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:75195110C>A	uc002azh.4	-	4	768	c.447G>T	c.(445-447)gtG>gtT	p.V149V	FAM219B_uc010bkh.3_Silent_p.V63V|FAM219B_uc002azf.3_Silent_p.V149V|FAM219B_uc002azg.2_Silent_p.V148V	NM_020447	NP_065180	Q5XKK7	CO017_HUMAN	Homo sapiens chromosome 15 open reading frame 17 (C15orf17), mRNA.	149							cytochrome-c oxidase activity										GCTGCCGGCTCACATCCTGGT	0.517000														4			73		1.68508e-47	2.37213e-47	0.003610	1	0
RCSD1	92241	broad.mit.edu	37	1	167666886	167666886	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:167666886G>A	uc001gem.3	+	5	1212	c.1025G>A	c.(1024-1026)gGa>gAa	p.G342E	RCSD1_uc010pli.2_Missense_Mutation_p.G312E	NM_052862	NP_443094	Q6JBY9	CPZIP_HUMAN	Homo sapiens RCSD domain containing 1 (RCSD1), mRNA.	342										NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					CTGGAGGAGGGAGCTGCAGTG	0.557000														3			12		0	0	0.002450	0	0
OR4S2	219431	broad.mit.edu	37	11	55418813	55418813	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:55418813G>A	uc001nhs.1	+	0	434	c.434G>A	c.(433-435)gGg>gAg	p.G145E		NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 2 (OR4S2), mRNA.	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				ATGTTATTAGGGACGTGGGTA	0.423000														7			16		0	0	0.006122	0	0
PCLO	27445	broad.mit.edu	37	7	82579027	82579027	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:82579027G>A	uc003uhx.2	-	5	11166	c.10877C>T	c.(10876-10878)cCc>cTc	p.P3626L	PCLO_uc003uhv.2_Missense_Mutation_p.P3626L|PCLO_uc010lec.3_Missense_Mutation_p.P591L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3557					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.P3626P(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						TGGTGAGATGGGTGAGTAAAG	0.478000														33			24		0	0	0.002780	0	0
COL5A1	1289	broad.mit.edu	37	9	137620525	137620525	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:137620525G>A	uc004cfe.3	+	5	1178	c.796G>A	c.(796-798)Gga>Aga	p.G266R		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	266	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GTACACGGAAGGAGACGGCGA	0.607000														74			31		0	0	0.002445	0	0
ACADL	33	broad.mit.edu	37	2	211070463	211070463	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:211070463G>A	uc002vdz.4	-	5	889	c.661C>T	c.(661-663)Cat>Tat	p.H221Y		NM_001608	NP_001599	P28330	ACADL_HUMAN	Homo sapiens acyl-CoA dehydrogenase, long chain (ACADL), nuclear gene encoding mitochondrial protein, mRNA.	221					carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial matrix	long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		GGAGCTTCATGATTTGTGACC	0.393000														32			9		0	0	0.006214	0	0
WDR49	151790	broad.mit.edu	37	3	167240236	167240236	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:167240236G>A	uc003fev.1	-	11	1889	c.1585C>T	c.(1585-1587)Cct>Tct	p.P529S	WDR49_uc003feu.1_Missense_Mutation_p.P354S|WDR49_uc011bpd.1_Intron|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	Homo sapiens WD repeat domain 49 (WDR49), mRNA.	529										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TCTCTTTTAGGAAGGAAAAGG	0.303000														9			11		0	0	0.000978	0	0
EPHA1	2041	broad.mit.edu	37	7	143090820	143090820	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:143090820C>T	uc003wcz.3	-	15	2727	c.2640G>A	c.(2638-2640)ctG>ctA	p.L880L		NM_005232	NP_005223	P21709	EPHA1_HUMAN	Homo sapiens EPH receptor A1 (EPHA1), mRNA.	880	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GCAGTTGCTCCAGATGTGCCT	0.597000														28			25		0	0	0.005443	0	0
ACBD5	91452	broad.mit.edu	37	10	27497367	27497367	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:27497367C>T	uc001itr.1	-	9	1299	c.579G>A	c.(577-579)agG>agA	p.R193R	ACBD5_uc010qdm.2_Silent_p.R402R|ACBD5_uc010qdn.2_Silent_p.R295R|ACBD5_uc010qdo.2_Silent_p.R227R|ACBD5_uc010qdp.2_Silent_p.R404R|ACBD5_uc001ito.3_Silent_p.R369R|ACBD5_uc001itp.3_Silent_p.R295R|ACBD5_uc001itq.3_Silent_p.R295R			Q5T8D3	ACBD5_HUMAN	Homo sapiens acyl-CoA binding domain containing 5 (ACBD5), transcript variant 3, non-coding RNA.	413					transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						AGTGTTGCATCCTATGTCCTA	0.448000														38			14		0	0	0.004990	0	0
PTK2	5747	broad.mit.edu	37	8	141799593	141799593	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:141799593G>A	uc003yvu.3	-	13	1467	c.1157C>T	c.(1156-1158)aCa>aTa	p.T386I	PTK2_uc011ljq.2_Missense_Mutation_p.T47I|PTK2_uc003yvp.3_Missense_Mutation_p.T47I|PTK2_uc003yvq.3_5'UTR|PTK2_uc003yvr.3_Missense_Mutation_p.T285I|PTK2_uc003yvs.3_Missense_Mutation_p.T386I|PTK2_uc011ljr.2_Missense_Mutation_p.T386I|PTK2_uc003yvt.3_Missense_Mutation_p.T408I|PTK2_uc003yvv.3_Missense_Mutation_p.T273I	NM_153831	NP_722560	Q05397	FAK1_HUMAN	Homo sapiens PTK2 protein tyrosine kinase 2 (PTK2), transcript variant 1, mRNA.	386					axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|SH2 domain binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			GACGGCGTGTGTCCGCATGCC	0.507000														69			74		0	0	0.003610	0	0
GALNTL2	117248	broad.mit.edu	37	3	16237354	16237354	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:16237354G>A	uc003car.4	+	1	1102	c.627G>A	c.(625-627)cgG>cgA	p.R209R	GALNTL2_uc003caq.4_5'UTR	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2 (GALNTL2), mRNA.	209	Catalytic subdomain A.					Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|breast(3)|endometrium(4)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(1)|stomach(1)	33						CTCTCCTGCGGACTGTACACA	0.607000														28			12		0	0	0.001855	0	0
FAM26E	254228	broad.mit.edu	37	6	116833077	116833077	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:116833077C>T	uc003pwy.3	+	0	270	c.218C>T	c.(217-219)tCg>tTg	p.S73L	BET3L_uc003pwx.3_Intron|BET3L_uc011ebh.2_Intron	NM_153711	NP_714922	Q8N5C1	FA26E_HUMAN	Homo sapiens family with sequence similarity 26, member E (FAM26E), mRNA.	73						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		AACAATAGGTCGTGGAGACTC	0.522000														30			21		0	0	0.001523	0	0
XPNPEP1	7511	broad.mit.edu	37	10	111667470	111667470	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:111667470G>A	uc001kyp.2	-	2	345	c.225C>T	c.(223-225)atC>atT	p.I75I	XPNPEP1_uc009xxt.2_Silent_p.I75I|XPNPEP1_uc001kyq.2_5'UTR|XPNPEP1_uc010qrb.2_Silent_p.I75I	NM_020383	NP_065116	Q9NQW7	XPP1_HUMAN	Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 1, soluble (XPNPEP1), transcript variant 1, mRNA.	32					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		CTCCCGATGGGATGATGTAGG	0.498000														85			54		0	0	0.003610	0	0
MYO3A	53904	broad.mit.edu	37	10	26243860	26243860	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:26243860C>A	uc001isn.2	+	3	586	c.226C>A	c.(226-228)Cct>Act	p.P76T	MYO3A_uc009xko.1_Missense_Mutation_p.P76T|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Missense_Mutation_p.P76T|MYO3A_uc001ism.2_Missense_Mutation_p.P76T	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	76	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TTCTGACCACCCTAATGTGGT	0.358000														21			18		1.33834e-09	1.85983e-09	0.007413	1	0
PLA2G4E	123745	broad.mit.edu	37	15	42280281	42280281	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:42280281G>A	uc021sjp.1	-	15	1797	c.1797C>T	c.(1795-1797)ttC>ttT	p.F599F	PLA2G4E_uc010udc.2_Silent_p.F42F|PLA2G4E_uc001zov.2_Silent_p.F223F	NM_001206670	NP_001193599	Q3MJ16	PA24E_HUMAN	Homo sapiens phospholipase A2, group IVE (PLA2G4E), mRNA.	587	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		TCCACCTGTGGAAAAACTCCT	0.617000														4			6		0	0	0.001984	0	0
CSMD2	114784	broad.mit.edu	37	1	34112395	34112395	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:34112395C>T	uc001bxm.1	-	28	4804	c.4627G>A	c.(4627-4629)Gac>Aac	p.D1543N	CSMD2_uc001bxn.1_Missense_Mutation_p.D1503N|CSMD2_uc001bxo.1_Missense_Mutation_p.D416N	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1503	CUB 9.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCCCGTCCGTCGTAGATATGG	0.557000														3			12		0	0	0.001368	0	0
POU5F1B	5462	broad.mit.edu	37	8	128428301	128428301	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:128428301C>T	uc003ysf.3	+	0	445	c.190C>T	c.(190-192)Ccc>Tcc	p.P64S	LOC727677_uc003ysc.1_Intron|LOC727677_uc003ysd.1_Intron|LOC727677_uc003yse.1_Intron|POU5F1B_uc011liu.1_Non-coding_Transcript	NM_001159542	NP_001153014	Q06416	P5F1B_HUMAN	Homo sapiens POU class 5 homeobox 1B (POU5F1B), mRNA.	64						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|prostate(1)|urinary_tract(1)	3						TCCCCCTTGCCCCCCGCCGTA	0.652000														0			7		0	0	0.006214	0	0
STOML1	9399	broad.mit.edu	37	15	74284493	74284493	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:74284493G>A	uc002awe.3	-	0	143	c.72C>T	c.(70-72)ggC>ggT	p.G24G	PML_uc002awj.1_5'Flank|PML_uc002awm.3_5'Flank|PML_uc002awl.3_5'Flank|PML_uc002awk.3_5'Flank|PML_uc002awn.3_5'Flank|PML_uc002awo.3_5'Flank|PML_uc002awp.3_5'Flank|PML_uc002awq.3_5'Flank|PML_uc002awr.3_5'Flank|PML_uc002aws.3_5'Flank|PML_uc002awt.3_5'Flank|PML_uc002awu.3_5'Flank|PML_uc002awv.3_5'Flank|PML_uc010ule.2_5'Flank|STOML1_uc002awf.3_Silent_p.G24G|STOML1_uc010bje.3_Silent_p.G24G|STOML1_uc010uld.2_5'UTR|STOML1_uc002awh.3_Silent_p.G24G|STOML1_uc002awg.3_Silent_p.G24G	NM_004809	NP_004800	Q9UBI4	STML1_HUMAN	Homo sapiens stomatin (EPB72)-like 1 (STOML1), mRNA.	24						integral to membrane	sterol binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						AGCCCAGAAAGCCGAAGCTCG	0.716000														4			46		0	0	0.003610	0	0
SEL1L	6400	broad.mit.edu	37	14	81964266	81964266	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:81964266G>A	uc010tvv.2	-	9	1215	c.1098C>T	c.(1096-1098)ttC>ttT	p.F366F		NM_005065	NP_005056	Q9UBV2	SE1L1_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like (C. elegans) (SEL1L), transcript variant 1, mRNA.	366	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		TTTCAGCTAGGAACTGGTAAT	0.413000														24			18		0	0	0.006122	0	0
AIM2	9447	broad.mit.edu	37	1	159035961	159035961	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:159035961C>T	uc001ftj.1	-	3	800	c.555G>A	c.(553-555)aaG>aaA	p.K185K		NM_004833	NP_004824	O14862	AIM2_HUMAN	Homo sapiens absent in melanoma 2 (AIM2), mRNA.	185	HIN-200.				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus		p.E184*(1)		breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					AGAAGAATTCCTTTTCTGTAG	0.373000														23			58		0	0	0.003610	0	0
ANK3	288	broad.mit.edu	37	10	61898739	61898739	+	Silent	SNP	G	A	A	rs142825560	by1000genomes	TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:61898739G>A	uc001jky.3	-	23	3059	c.2721C>T	c.(2719-2721)ctC>ctT	p.L907L	ANK3_uc001jkw.3_Silent_p.L41L|ANK3_uc009xpa.3_Silent_p.L41L|ANK3_uc001jkx.3_Silent_p.L85L|ANK3_uc010qih.2_Silent_p.L908L|ANK3_uc001jkz.4_Silent_p.L901L|ANK3_uc001jlb.1_Silent_p.L415L|ANK3_uc001jlc.1_Silent_p.L547L	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	907					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AACGCGCTCCGAGACTAAAGC	0.428000														18			4		0	0	0.000248	0	0
AMPD1	270	broad.mit.edu	37	1	115220124	115220124	+	Silent	SNP	C	T	T	rs141829342		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:115220124C>T	uc001efe.2	-	9	1383	c.1335G>A	c.(1333-1335)gcG>gcA	p.A445A	AMPD1_uc001eff.2_Silent_p.A441A	NM_000036	NP_000027	P23109	AMPD1_HUMAN	Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	412					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	p.A445A(1)|p.V444I(1)|p.A412A(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	CCACCAGGTCCGCACCTACCT	0.567000														5			26		0	0	0.006320	0	0
BIRC6	57448	broad.mit.edu	37	2	32773047	32773047	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:32773047G>A	uc010ezu.3	+	63	13075	c.12941G>A	c.(12940-12942)aGg>aAg	p.R4314K		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	4314					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ACTAAGCAAAGGCTGGAAGAG	0.378000														10			21		0	0	0.003330	0	0
ZNF624	57547	broad.mit.edu	37	17	16527814	16527814	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:16527814G>A	uc010cpi.2	-	5	478	c.386C>T	c.(385-387)cCc>cTc	p.P129L	ZNF624_uc021tre.1_Missense_Mutation_p.P3L	NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN	Homo sapiens zinc finger protein 624 (ZNF624), mRNA.	129					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TGCAGGTTTGGGCTCCATGTC	0.398000														18			27		0	0	0.002096	0	0
OAS2	4939	broad.mit.edu	37	12	113444298	113444298	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:113444298G>A	uc001tuj.3	+	7	1689	c.1549G>A	c.(1549-1551)Gga>Aga	p.G517R	OAS2_uc001tui.1_Missense_Mutation_p.G517R	NM_016817	NP_058197	P29728	OAS2_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 2, 69/71kDa (OAS2), transcript variant 1, mRNA.	517	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|RNA binding|nucleotidyltransferase activity			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GGACCTCCCGGGAGGAGAGTT	0.527000														30			52		0	0	0.003610	0	0
SUN5	140732	broad.mit.edu	37	20	31571638	31571638	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:31571638C>T	uc002wyi.3	-	12	1195	c.1102G>A	c.(1102-1104)Gag>Aag	p.E368K		NM_080675	NP_542406	Q8TC36	SUN5_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 5 (SUN5), mRNA.	368					spermatogenesis					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						TGAGGCTGCTCTCTGGGCGGG	0.542000														66			67		0	0	0.003610	0	0
CCDC91	55297	broad.mit.edu	37	12	28460596	28460596	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:28460596G>A	uc001riq.3	+	4	504	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K	CCDC91_uc001rio.3_Missense_Mutation_p.E134K|CCDC91_uc009zjk.3_Non-coding_Transcript|CCDC91_uc001rip.1_Missense_Mutation_p.E164K|CCDC91_uc009zjl.3_Missense_Mutation_p.E2K	NM_018318	NP_060788	Q7Z6B0	CCD91_HUMAN	Homo sapiens coiled-coil domain containing 91 (CCDC91), mRNA.	164					protein transport	Golgi apparatus|membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					ATCATTGATGGAAAAGCATAA	0.284000														5			5		0	0	0.001168	0	0
TUBGCP5	114791	broad.mit.edu	37	15	22868950	22868950	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:22868950G>C	uc001yuq.2	+	19	2952	c.2822G>C	c.(2821-2823)tGt>tCt	p.C941S	TUBGCP5_uc001yur.4_Missense_Mutation_p.C941S	NM_001102610	NP_001096080	Q96RT8	GCP5_HUMAN	Homo sapiens tubulin, gamma complex associated protein 5 (TUBGCP5), transcript variant 2, mRNA.	941					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		CATGACCGGTGTCTGCTGAGA	0.458000														27			15		0	0	0.006122	0	0
CSDE1	7812	broad.mit.edu	37	1	115273131	115273131	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:115273131G>A	uc001efi.3	-	11	1849	c.1327C>T	c.(1327-1329)Cct>Tct	p.P443S	CSDE1_uc001efj.3_Non-coding_Transcript|CSDE1_uc001efk.3_Missense_Mutation_p.P397S|CSDE1_uc001efm.3_Missense_Mutation_p.P412S|CSDE1_uc009wgv.3_Missense_Mutation_p.P397S|CSDE1_uc001efl.3_Missense_Mutation_p.P366S|CSDE1_uc001efn.3_Missense_Mutation_p.P366S	NM_001242891	NP_001229820	O75534	CSDE1_HUMAN	Homo sapiens cold shock domain containing E1, RNA-binding (CSDE1), transcript variant 4, mRNA.	397					male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|RNA binding|protein binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAACTCACAGGAACCACAGTA	0.378000														13			4		0	0	0.000248	0	0
CNGA4	1262	broad.mit.edu	37	11	6261572	6261572	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:6261572A>C	uc001mco.3	+	3	663	c.548A>C	c.(547-549)aAc>aCc	p.N183T	CNGA4_uc010raa.2_Intron|CNGA4_uc001mcn.3_Missense_Mutation_p.N143T	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 4 (CNGA4), mRNA.	183					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCCATTGGAACAGCTGCCTA	0.592000														25			35		0	0	0.002836	0	0
ZNF682	91120	broad.mit.edu	37	19	20117045	20117045	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:20117045C>A	uc002noq.3	-	3	1389	c.1266G>T	c.(1264-1266)gaG>gaT	p.E422D	ZNF682_uc002noo.3_Missense_Mutation_p.E390D|ZNF682_uc002nop.3_Missense_Mutation_p.E390D|ZNF682_uc010eck.3_Missense_Mutation_p.E346D	NM_033196	NP_001070817	O95780	ZN682_HUMAN	Homo sapiens zinc finger protein 682 (ZNF682), transcript variant 1, mRNA.	422					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						TGTAGGGTTTCTCTCCAGTAT	0.393000														38			12		4.84862e-15	6.77659e-15	0.000978	1	0
POTED	317754	broad.mit.edu	37	GL000213.1	108145	108145	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrGL000213.1:108145G>A	uc011mfl.1	-	10	1684	c.1636C>T	c.(1636-1638)Cag>Tag	p.Q546*		NM_174981	NP_778146	Q86YR6	POTED_HUMAN	Homo sapiens POTE ankyrin domain family, member D (POTED), mRNA.	546						plasma membrane				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						AGCTGGTTCTGATGTTTTGTT	0.363000														22			21		0	0	0.001512	0	0
HAL	3034	broad.mit.edu	37	12	96389601	96389601	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:96389601C>A	uc001tem.1	-	1	385	c.88G>T	c.(88-90)Gag>Tag	p.E30*	HAL_uc010sux.1_Nonsense_Mutation_p.E30*|HAL_uc009zti.1_Non-coding_Transcript|HAL_uc010suw.1_5'UTR	NM_002108	NP_002099	P42357	HUTH_HUMAN	Homo sapiens histidine ammonia-lyase (HAL), mRNA.	30					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	CTCACGGCCTCCCGGCCCAGC	0.652000														9			11		2.80697e-09	3.89796e-09	0.000978	1	0
IL4R	3566	broad.mit.edu	37	16	27374571	27374571	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:27374571C>T	uc002don.3	+	10	2140	c.1898C>T	c.(1897-1899)cCt>cTt	p.P633L	IL4R_uc002dop.4_Missense_Mutation_p.P618L|IL4R_uc010bxy.3_Missense_Mutation_p.P633L|IL4R_uc002doo.3_Missense_Mutation_p.P473L	NM_000418	NP_000409	P24394	IL4RA_HUMAN	Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA.	633	Required for IL4-induced gene expression.				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GGGTATAAGCCTTTCCAAGAC	0.602000														31			28		0	0	0.007291	0	0
CAPN11	11131	broad.mit.edu	37	6	44137193	44137193	+	Silent	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:44137193A>G	uc003owt.1	+	2	302	c.264A>G	c.(262-264)gaA>gaG	p.E88E		NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	Homo sapiens calpain 11 (CAPN11), mRNA.	88	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCCCTGCTGAACCCAGCTCAC	0.577000														4			13		0	0	0.001368	0	0
ALK	238	broad.mit.edu	37	2	29497987	29497987	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:29497987C>T	uc002rmy.3	-	10	2971	c.2019G>A	c.(2017-2019)caG>caA	p.Q673Q		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	673					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.Q673K(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	AGATGGGGGTCTGTCTTGGTG	0.458000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					28			26		0	0	0.001512	0	0
TCEB3C	162699	broad.mit.edu	37	18	44549170	44549171	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:44549170_44549171GG>AA	uc021ujl.1	-	0	1364_1365	c.1128_1129CC>TT	c.(1126-1131)taccgc>taTTgc	p.R377C	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_145653	NP_001094287	Q8NG57	ELOA3_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA.	377	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						TTCTCTGTGCGGTACGGCTGAT	0.574000														189			14		0	0	0.004672	0	0
OXTR	5021	broad.mit.edu	37	3	8794730	8794730	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:8794730G>A	uc003brc.3	-	3	1725	c.1103C>T	c.(1102-1104)tCg>tTg	p.S368L		NM_000916	NP_000907	P30559	OXYR_HUMAN	Homo sapiens oxytocin receptor (OXTR), mRNA.	368					female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)	AAAGGAGGACGAGTTGCTCTT	0.642000														27			15		0	0	0.004990	0	0
GNAZ	2781	broad.mit.edu	37	22	23438415	23438415	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:23438415C>T	uc002zwu.1	+	1	1070	c.533C>T	c.(532-534)tCc>tTc	p.S178F	RTDR1_uc002zwt.3_Intron	NM_002073	NP_002064	P19086	GNAZ_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha z polypeptide (GNAZ), mRNA.	178						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity	p.R177P(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		ATCCTGCGCTCCCGGGACATG	0.592000														27			26		0	0	0.006320	0	0
ANKRD20A5P	440482	broad.mit.edu	37	18	14183687	14183687	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:14183687G>A	uc010xag.2	+	1	538	c.240G>A	c.(238-240)gtG>gtA	p.V80V	ANKRD20A5P_uc002ksw.2_Non-coding_Transcript|ANKRD20A5P_uc002ksv.2_5'Flank					Homo sapiens ankyrin repeat domain 20 family, member A5, pseudogene (ANKRD20A5P), non-coding RNA.											lung(3)	3						GTGGCCATGTGAAAGTGGTCA	0.393000														115			12		0	0	0.001216	0	0
EVPL	2125	broad.mit.edu	37	17	74003218	74003218	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:74003218G>A	uc010wss.1	-	21	6362	c.6134C>T	c.(6133-6135)tCc>tTc	p.S2045F	EVPL_uc002jqi.2_Missense_Mutation_p.S2023F|EVPL_uc010wst.1_Missense_Mutation_p.S1493F	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	2023					keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GGGGGAGGCGGAGCGGTAGCA	0.687000														17			19		0	0	0.006122	0	0
GUSB	2990	broad.mit.edu	37	7	65444842	65444842	+	Silent	SNP	G	A	A	rs144397476		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:65444842G>A	uc003tun.3	-	2	584	c.453C>T	c.(451-453)gcC>gcT	p.A151A	GUSB_uc011kdt.2_Silent_p.A151A|GUSB_uc010kzw.2_Intron	NM_000181	NP_000172	P08236	BGLR_HUMAN	Homo sapiens glucuronidase, beta (GUSB), mRNA.	151					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						TGCTGATGTCGGCCTCGAAGG	0.647000														13			13		0	0	0.001368	0	0
CTAGE4	100128553	broad.mit.edu	37	7	143882694	143882694	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:143882694C>T	uc010lpc.3	+	0	2147	c.2098C>T	c.(2098-2100)Cca>Tca	p.P700S		NM_198495	NP_940897	Q8IX94	CTGE4_HUMAN	Homo sapiens CTAGE family, member 4 (CTAGE4), mRNA.	700	Pro-rich.					integral to membrane				endometrium(1)|ovary(2)	3						ACCTCTTGCTCCAATCAGCGG	0.502000														135			19		0	0	0.007291	0	0
MYH14	79784	broad.mit.edu	37	19	50760601	50760601	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:50760601G>A	uc010enu.1	+	17	2137	c.2090G>A	c.(2089-2091)gGc>gAc	p.G697D	MYH14_uc002prq.1_Missense_Mutation_p.G664D|MYH14_uc002prr.1_Missense_Mutation_p.G656D	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.	656	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CTGGGCGACGGCCCACCAGGT	0.622000														12			8		0	0	0.004482	0	0
SCRN2	90507	broad.mit.edu	37	17	45915737	45915737	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:45915737C>T	uc002imd.3	-	6	1144	c.1018G>A	c.(1018-1020)Gac>Aac	p.D340N	SCRN2_uc002imf.3_Missense_Mutation_p.D340N	NM_138355	NP_612364	Q96FV2	SCRN2_HUMAN	Homo sapiens secernin 2 (SCRN2), transcript variant 1, mRNA.	340					proteolysis		dipeptidase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						CGAACAGGGTCTTGTGCTCCA	0.602000														56			54		0	0	0.003610	0	0
DCN	1634	broad.mit.edu	37	12	91572301	91572301	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:91572301A>G	uc001tbt.3	-	1	283	c.29T>C	c.(28-30)cTt>cCt	p.L10P	DCN_uc001tbo.3_Missense_Mutation_p.L10P|DCN_uc001tbp.3_Missense_Mutation_p.L10P|DCN_uc001tbq.3_Missense_Mutation_p.L10P|DCN_uc001tbr.3_Missense_Mutation_p.L10P|DCN_uc001tbu.3_Missense_Mutation_p.L10P	NM_133503	NP_598010	P07585	PGS2_HUMAN	Homo sapiens decorin (DCN), transcript variant A2, mRNA.	10					organ morphogenesis	extracellular space		p.L10delL(1)		central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						AACTTGTGCAAGCAGAAGGAG	0.443000											OREG0022021	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		3			16		0	0	0.006122	0	0
C6	729	broad.mit.edu	37	5	41181563	41181563	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:41181563C>T	uc003jmk.2	-	6	1035	c.825G>A	c.(823-825)ggG>ggA	p.G275G	C6_uc003jml.1_Silent_p.G275G	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	275	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.G275G(2)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				AAGAGCTCCCCCCCTGACTTG	0.378000														30			24		0	0	0.002780	0	0
HTR3B	9177	broad.mit.edu	37	11	113802525	113802525	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:113802525G>A	uc001pok.3	+	3	442	c.304G>A	c.(304-306)Gag>Aag	p.E102K	HTR3B_uc001pol.3_Missense_Mutation_p.E91K	NM_006028	NP_006019	O95264	5HT3B_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3B (HTR3B), mRNA.	102					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		CATGTTTGATGAGATTAGAGA	0.418000														35			32		0	0	0.006230	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140248958	140248958	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:140248958C>T	uc003lia.2	+	0	1128	c.270C>T	c.(268-270)atC>atT	p.I90I	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Silent_p.I90I	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	105	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTCTCGGATCGACCGCGAGG	0.587000														199			57		0	0	0.003610	0	0
MORC2	22880	broad.mit.edu	37	22	31337889	31337890	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:31337889_31337890GG>AA	uc003aje.1	-	8	1864_1865	c.500_501CC>TT	c.(499-501)tcc>tTT	p.S167F		NM_014941	NP_055756	Q9Y6X9	MORC2_HUMAN	Homo sapiens MORC family CW-type zinc finger 2 (MORC2), mRNA.	229							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						TGCCCTCTGGGGACGTCTCTGC	0.515000														60			53		0	0	0.004672	0	0
SERPINB2	5055	broad.mit.edu	37	18	61582747	61582747	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:61582747G>A	uc010xev.2	+	1	93	c.3G>A	c.(1-3)atG>atA	p.M1I	SERPINB2_uc002ljp.1_Missense_Mutation_p.M142I|SERPINB2_uc002ljq.1_Missense_Mutation_p.M115I|SERPINB2_uc010xew.2_Missense_Mutation_p.M1I	NM_005024	NP_005015	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 10 (SERPINB10), mRNA.	1					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	Golgi apparatus|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	TTTCCTCAATGGACTCTCTAG	0.343000														12			6		0	0	0.001984	0	0
U2AF2	11338	broad.mit.edu	37	19	56170676	56170677	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:56170676_56170677CC>TT	uc002qlu.3	+	1	1205_1206	c.150_151CC>TT	c.(148-153)gaccag>gaTTag	p.Q51*	U2AF2_uc002qlt.3_Nonsense_Mutation_p.Q51*	NM_007279	NP_009210	P26368	U2AF2_HUMAN	Homo sapiens U2 small nuclear RNA auxiliary factor 2 (U2AF2), transcript variant 1, mRNA.	51	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	RNA binding|enzyme binding|nucleotide binding			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		GCAACCGGGACCAGCGGAGCGC	0.733000														5			5		0	0	0.004672	0	0
CCDC38	120935	broad.mit.edu	37	12	96288856	96288856	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:96288856G>A	uc001tek.2	-	7	917	c.683C>T	c.(682-684)tCt>tTt	p.S228F		NM_182496	NP_872302	Q502W7	CCD38_HUMAN	Homo sapiens coiled-coil domain containing 38 (CCDC38), mRNA.	228										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ATGTTTTGGAGACATTTGCAG	0.333000														45			27		0	0	0.004656	0	0
SETBP1	26040	broad.mit.edu	37	18	42531492	42531492	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:42531492G>A	uc010dni.3	+	3	2483	c.2187G>A	c.(2185-2187)agG>agA	p.R729R		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	729						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AGCGGGGCAGGAAGCCAAGAG	0.572000									Schinzel-Giedion syndrome					17			13		0	0	0.001368	0	0
IL18R1	8809	broad.mit.edu	37	2	103010932	103010932	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:103010932G>A	uc002tbw.4	+	9	1265	c.1115G>A	c.(1114-1116)gGa>gAa	p.G372E	IL18R1_uc010ywd.2_Missense_Mutation_p.G216E|IL18R1_uc010fiy.3_Missense_Mutation_p.G372E|IL18R1_uc010ywc.2_Missense_Mutation_p.G371E	NM_003855	NP_003846	Q13478	IL18R_HUMAN	Homo sapiens interleukin 18 receptor 1 (IL18R1), mRNA.	372					innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CTCCTAGATGGAAAAACATAT	0.358000														7			19		0	0	0.002780	0	0
ZYG11B	79699	broad.mit.edu	37	1	53262457	53262457	+	Splice_Site	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:53262457G>A	uc001cuj.3	+	8	1680	c.1485_splice	c.e8+1	p.R495_splice	ZYG11B_uc009vzg.3_Splice_Site|ZYG11B_uc010onj.2_Splice_Site_p.R486_splice|ZYG11B_uc009vzh.3_Splice_Site	NM_024646	NP_078922	Q9C0D3	ZY11B_HUMAN	Homo sapiens zyg-11 homolog B (C. elegans) (ZYG11B), mRNA.	495							protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						CATTGTCAGGGTAAGTCTATA	0.328000														13			31		0	0	0.004289	0	0
MUC16	94025	broad.mit.edu	37	19	9085631	9085631	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:9085631T>C	uc002mkp.3	-	0	6388	c.6184A>G	c.(6184-6186)Aca>Gca	p.T2062A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2062	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						GGCCAAGTTGTAGTGGGGAGA	0.468000														65			22		0	0	0.004656	0	0
ST18	9705	broad.mit.edu	37	8	53084866	53084866	+	Silent	SNP	G	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:53084866G>C	uc003xqz.2	-	4	711	c.555C>G	c.(553-555)ccC>ccG	p.P185P	ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Silent_p.P150P|ST18_uc011lds.1_Silent_p.P90P|ST18_uc003xra.2_Silent_p.P185P|ST18_uc003xrb.2_Silent_p.P185P	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	185						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				AGGAGCAGAAGGGTGGCTGAG	0.458000														15			24		0	0	0.001786	0	0
MTMR3	8897	broad.mit.edu	37	22	30403281	30403281	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:30403281G>A	uc003agv.4	+	9	1178	c.850G>A	c.(850-852)Ggg>Agg	p.G284R	MTMR3_uc003agu.4_Missense_Mutation_p.G284R|MTMR3_uc003agw.4_Missense_Mutation_p.G284R	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	Homo sapiens myotubularin related protein 3 (MTMR3), transcript variant 3, mRNA.	284	Myotubularin phosphatase.				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			CTTTCCCAATGGGGGAGACCT	0.498000														25			18		0	0	0.002780	0	0
METTL7B	196410	broad.mit.edu	37	12	56077598	56077598	+	Splice_Site	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:56077598G>A	uc010spr.2	+	2	708	c.499_splice	c.e2-1	p.G167_splice		NM_152637	NP_689850	Q6UX53	MET7B_HUMAN	Homo sapiens methyltransferase like 7B (METTL7B), mRNA.	167							methyltransferase activity			kidney(1)|large_intestine(1)|lung(4)	6						CCCTCCCAGGGAGGTGTGCTC	0.522000														47			17		0	0	0.001882	0	0
GFAP	2670	broad.mit.edu	37	17	42991119	42991119	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:42991119A>C	uc021tyh.1	-	2	661	c.595T>G	c.(595-597)Ttc>Gtc	p.F199V	GFAP_uc002ihq.3_Missense_Mutation_p.F199V|GFAP_uc002ihr.3_Missense_Mutation_p.F199V|GFAP_uc010wjg.2_Non-coding_Transcript	NM_001242376	NP_001229305	P14136	GFAP_HUMAN	Homo sapiens glial fibrillary acidic protein (GFAP), transcript variant 3, mRNA.	199	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				TTCCTCAAGAACCGGATCTCC	0.572000														111			83		0	0	0.003610	0	0
TRPM8	79054	broad.mit.edu	37	2	234835192	234835192	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:234835192C>T	uc002vvh.3	+	1	50	c.10C>T	c.(10-12)Cgg>Tgg	p.R4W	TRPM8_uc010fyj.3_5'UTR	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	4						integral to membrane		p.F3F(1)		breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	GATGTCCTTTCGGGCAGCCAG	0.527000														32			19		0	0	0.001216	0	0
SSPO	23145	broad.mit.edu	37	7	149475892	149475892	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:149475892G>A	uc010lpk.3	+	6	858	c.858G>A	c.(856-858)ggG>ggA	p.G286G	SSPO_uc010lpl.1_5'UTR	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	286	VWFD 1.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AATGGCTGGGGGACTGGCTGG	0.632000														20			11		0	0	0.004990	0	0
SETD2	29072	broad.mit.edu	37	3	47125362	47125362	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:47125362G>A	uc003cqv.3	-	12	6195	c.6109C>T	c.(6109-6111)Cta>Tta	p.L2037L	SETD2_uc003cqs.3_Silent_p.L1970L|SETD2_uc003cqt.1_Non-coding_Transcript	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	1970					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GGTTCTTCTAGTTTTGTGCCG	0.433000			"""N, F, S, Mis"""		clear cell renal carcinoma									35			9		0	0	0.000673	0	0
PAPPA2	60676	broad.mit.edu	37	1	176564359	176564359	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:176564359C>T	uc001gkz.3	+	2	2783	c.1619C>T	c.(1618-1620)cCc>cTc	p.P540L	PAPPA2_uc001gky.1_Missense_Mutation_p.P540L|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	540	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGCCTAAACCCCATTGTGAGT	0.552000														36			10		0	0	0.006214	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955510	18955510	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:18955510G>A	uc001mpg.3	-	0	1040	c.822C>T	c.(820-822)ttC>ttT	p.F274F		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	274					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.F273S(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGGAGCCCACGAAGAAGTAAA	0.512000														16			29		0	0	0.006230	0	0
SLC45A1	50651	broad.mit.edu	37	1	8384545	8384545	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:8384545G>A	uc001apb.3	+	0	156	c.156G>A	c.(154-156)agG>agA	p.R52R		NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN	Homo sapiens solute carrier family 45, member 1 (SLC45A1), mRNA.	52					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		ACCCCAAGAGGAGGAAGTGCA	0.662000														23			50		0	0	0.003610	0	0
HAX1	10456	broad.mit.edu	37	1	154245822	154245822	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:154245822C>T	uc010peo.2	+	1	225	c.64C>T	c.(64-66)Ccc>Tcc	p.P22S	HAX1_uc001fet.3_Intron|HAX1_uc001fes.3_Missense_Mutation_p.P22S|HAX1_uc009wou.3_5'UTR	NM_006118	NP_006109	O00165	HAX1_HUMAN	Homo sapiens HCLS1 associated protein X-1 (HAX1), transcript variant 1, mRNA.	22	Required for localization in mitochondria (By similarity).					actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding	p.P22S(4)		cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCACAGAGATCCCTTTTTTGG	0.488000									Kostmann syndrome					34			60		0	0	0.003610	0	0
DCC	1630	broad.mit.edu	37	18	50929237	50929237	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:50929237C>T	uc002lfe.2	+	18	3525	c.2909C>T	c.(2908-2910)cCc>cTc	p.P970L	DCC_uc010xdr.1_Missense_Mutation_p.P798L|DCC_uc010dpf.2_Missense_Mutation_p.P605L	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	970	Fibronectin type-III 6.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGGCAGCCTCCCTTGGAAGCC	0.522000														76			38		0	0	0.003214	0	0
CYP4A22	284541	broad.mit.edu	37	1	47606542	47606542	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:47606542C>T	uc001cqv.1	+	1	337	c.286C>T	c.(286-288)Cgt>Tgt	p.R96C	CYP4A22_uc009vyo.3_Missense_Mutation_p.R96C|CYP4A22_uc009vyp.3_Missense_Mutation_p.R96C	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 22 (CYP4A22), mRNA.	96						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGGCAAAGTTCGTGTCCAGCT	0.502000														68			18		0	0	0.001523	0	0
FGFR1OP	11116	broad.mit.edu	37	6	167438347	167438347	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:167438347C>T	uc003qvj.3	+	8	969	c.884C>T	c.(883-885)tCc>tTc	p.S295F	CCR6_uc003qvl.3_5'UTR|FGFR1OP_uc011egp.1_Missense_Mutation_p.S248F|FGFR1OP_uc003qvk.3_Missense_Mutation_p.S275F	NM_007045	NP_008976	O95684	FR1OP_HUMAN	Homo sapiens FGFR1 oncogene partner (FGFR1OP), transcript variant 1, mRNA.	295					G2/M transition of mitotic cell cycle|microtubule anchoring|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation	centrosome|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity|protein kinase binding|protein tyrosine kinase inhibitor activity			large_intestine(2)|ovary(1)|stomach(1)	4		Breast(66;1.48e-05)|Ovarian(120;0.0607)		OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231)		GGACTCAGCTCCCTGGCGGGA	0.463000			T	FGFR1	"""MPD, NHL"""									62			49		0	0	0.003610	0	0
CRB1	23418	broad.mit.edu	37	1	197396630	197396630	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:197396630C>T	uc001gtz.3	+	6	2384	c.2175C>T	c.(2173-2175)gtC>gtT	p.V725V	CRB1_uc010poz.2_Silent_p.V656V|CRB1_uc009wza.3_Silent_p.V613V|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_Silent_p.V206V|CRB1_uc001gub.1_Silent_p.V374V	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	725	Laminin G-like 2.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CTGGTTATGTCATCTTTACTC	0.438000														23			8		0	0	0.000673	0	0
TRAIP	10293	broad.mit.edu	37	3	49878430	49878431	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:49878430_49878431GG>AA	uc003cxs.1	-	7	798_799	c.692_693CC>TT	c.(691-693)tcc>tTT	p.S231F	TRAIP_uc010hla.1_Intron	NM_005879	NP_005870	Q9BWF2	TRAIP_HUMAN	Homo sapiens TRAF interacting protein (TRAIP), mRNA.	231	Interaction with CYLD.				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGCTTCTGGAGGAAAACAAATC	0.505000											OREG0015575	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		93			39		0	0	0.004672	0	0
ABCB10	23456	broad.mit.edu	37	1	229665973	229665973	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:229665973G>A	uc001htp.4	-	7	1661	c.1618C>T	c.(1618-1620)Ctg>Ttg	p.L540L		NM_012089	NP_036221	Q9NRK6	ABCBA_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 10 (ABCB10), nuclear gene encoding mitochondrial protein, mRNA.	540	ABC transporter.					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				AACCTCAGCAGGAGTGAAAGC	0.542000														53			18		0	0	0.001523	0	0
CYP4B1	1580	broad.mit.edu	37	1	47279220	47279220	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:47279220G>A	uc001cqn.4	+	4	646	c.562G>A	c.(562-564)Gcg>Acg	p.A188T	CYP4B1_uc009vyl.1_Missense_Mutation_p.A25T|CYP4B1_uc001cqm.4_Missense_Mutation_p.A188T|CYP4B1_uc009vym.3_Missense_Mutation_p.A173T|CYP4B1_uc010omk.2_Missense_Mutation_p.A25T|CYP4B1_uc010oml.1_Missense_Mutation_p.A25T	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.	188					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.A188V(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					GGGTCACATGGCGCTGAACAC	0.577000														9			40		0	0	0.007835	0	0
TC2N	123036	broad.mit.edu	37	14	92258738	92258738	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:92258738C>T	uc001xzu.4	-	8	1211	c.1020G>A	c.(1018-1020)ttG>ttA	p.L340L	TC2N_uc001xzt.4_Silent_p.L340L|TC2N_uc010auc.3_Intron|TC2N_uc001xzv.4_Silent_p.L340L	NM_001128595	NP_689545	Q8N9U0	TAC2N_HUMAN	Homo sapiens tandem C2 domains, nuclear (TC2N), transcript variant 2, mRNA.	340						nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		GTGTTATATCCAAAGAGTAAT	0.358000														63			50		0	0	0.003610	0	0
TFAP2D	83741	broad.mit.edu	37	6	50683037	50683037	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:50683037C>T	uc003paf.3	+	1	760	c.248C>T	c.(247-249)cCg>cTg	p.P83L	TFAP2D_uc011dwt.2_Non-coding_Transcript	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN	Homo sapiens transcription factor AP-2 delta (activating enhancer binding protein 2 delta) (TFAP2D), mRNA.	83							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					CACAGCCACCCGGCCGTCACC	0.592000														43			37		0	0	0.003271	0	0
MUM1L1	139221	broad.mit.edu	37	X	105450438	105450438	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:105450438G>A	uc022cca.1	+	0	1013	c.1013G>A	c.(1012-1014)aGa>aAa	p.R338K	MUM1L1_uc004emg.2_Missense_Mutation_p.R338K|MUM1L1_uc004emf.2_Missense_Mutation_p.R338K	NM_001171020	NP_001164491	Q5H9M0	MUML1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA.	338										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						AGTAGTGAAAGAAATTTTCAG	0.428000														0			3		0	0	0.004672	0	0
SOGA2	23255	broad.mit.edu	37	18	8784364	8784365	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:8784364_8784365GG>AA	uc002knr.2	+	5	1396_1397	c.1254_1255GG>AA	c.(1252-1257)tcggag>tcAAag	p.E419K	SOGA2_uc002knq.2_Missense_Mutation_p.E419K|SOGA2_uc010dkw.1_Missense_Mutation_p.E257K	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	Homo sapiens coiled-coil domain containing 165 (CCDC165), mRNA.	770																	AGAGTGACTCGGAGGAAATGTT	0.658000														34			13		0	0	0.004672	0	0
MOGAT1	116255	broad.mit.edu	37	2	223559194	223559194	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:223559194G>A	uc010fws.1	+	3	640	c.592G>A	c.(592-594)Gga>Aga	p.G198R	MOGAT1_uc010fwt.1_Missense_Mutation_p.G158R	NM_058165	NP_477513	Q96PD6	MOGT1_HUMAN	Homo sapiens monoacylglycerol O-acyltransferase 1 (MOGAT1), mRNA.	198					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity	p.G197R(2)|p.G198R(1)		breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1)	9		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)		TGCTCATCCTGGAAAGTTCAC	0.448000														12			22		0	0	0.001523	0	0
GFAP	2670	broad.mit.edu	37	17	42991117	42991117	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:42991117G>A	uc021tyh.1	-	2	663	c.597C>T	c.(595-597)ttC>ttT	p.F199F	GFAP_uc002ihq.3_Silent_p.F199F|GFAP_uc002ihr.3_Silent_p.F199F|GFAP_uc010wjg.2_Non-coding_Transcript	NM_001242376	NP_001229305	P14136	GFAP_HUMAN	Homo sapiens glial fibrillary acidic protein (GFAP), transcript variant 3, mRNA.	199	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				TCTTCCTCAAGAACCGGATCT	0.572000														110			82		0	0	0.003610	0	0
ZNF85	7639	broad.mit.edu	37	19	21132242	21132242	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:21132242C>T	uc002npg.4	+	3	1070	c.922C>T	c.(922-924)Cat>Tat	p.H308Y	ZNF85_uc010ecn.3_Missense_Mutation_p.H243Y|ZNF85_uc010eco.3_Missense_Mutation_p.H256Y|ZNF85_uc002npi.3_Missense_Mutation_p.H249Y	NM_003429	NP_003420	Q03923	ZNF85_HUMAN	Homo sapiens zinc finger protein 85 (ZNF85), transcript variant 1, mRNA.	308						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						TAGAAAAATTCATACTGGAGA	0.363000														13			7		0	0	0.003080	0	0
MYH7B	57644	broad.mit.edu	37	20	33581265	33581265	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:33581265G>A	uc002xbi.2	+	25	2879	c.2562G>A	c.(2560-2562)ctG>ctA	p.L854L	MIR499B_uc021wch.1_5'Flank	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	812						membrane|myosin filament	ATP binding|actin binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AGCGCCTGCTGGGAGGCAGGT	0.677000														2			6		0	0	0.001984	0	0
TEX34	124783	broad.mit.edu	37	17	43333349	43333350	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:43333349_43333350CC>TT	uc002iis.1	-	3	295_296	c.199_200GG>AA	c.(199-201)gga>AAa	p.G67K	LOC100133991_uc010dah.3_Intron|TEX34_uc010wjk.1_Missense_Mutation_p.G46K	NM_152343	NP_689556	Q96LK8	CQ046_HUMAN	Homo sapiens chromosome 17 open reading frame 46 (C17orf46), mRNA.	67																	CGGCACCTGTCCGATCTCCAGT	0.559000														13			10		0	0	0.004672	0	0
CELSR3	1951	broad.mit.edu	37	3	48669322	48669322	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:48669322G>A	uc003cuf.1	-	41	10956	c.10956C>T	c.(10954-10956)tcC>tcT	p.S3652S	CELSR3_uc003cug.3_Silent_p.S226S|CELSR3_uc011bbp.2_Missense_Mutation_p.P213S|CELSR3_uc010hke.3_Silent_p.S98S|CELSR3_uc003cuk.3_Intron|CELSR3_uc003cuh.3_Silent_p.S247S|CELSR3_uc003cui.3_Silent_p.S247S|CELSR3_uc003cuj.3_Silent_p.S247S	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	0					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CATAGATGAGGGACAGTGGCC	0.587000														25			10		0	0	0.000673	0	0
SEC31A	22872	broad.mit.edu	37	4	83770029	83770029	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:83770029G>A	uc003hnh.3	-	19	2610	c.2430C>T	c.(2428-2430)ccC>ccT	p.P810P	SEC31A_uc003hne.3_Silent_p.P543P|SEC31A_uc011ccl.2_Silent_p.P771P|SEC31A_uc003hnl.3_Silent_p.P771P|SEC31A_uc003hng.3_Silent_p.P810P|SEC31A_uc011ccm.2_Silent_p.P805P|SEC31A_uc003hni.3_Silent_p.P810P|SEC31A_uc003hnk.3_Silent_p.P771P|SEC31A_uc003hnf.3_Silent_p.P810P|SEC31A_uc011ccn.2_Silent_p.P810P|SEC31A_uc003hnm.3_Silent_p.P810P|SEC31A_uc003hnn.2_Silent_p.P810P	NM_014933	NP_055748	O94979	SC31A_HUMAN	Homo sapiens SEC31 homolog A (S. cerevisiae) (SEC31A), transcript variant 1, mRNA.	810	Interaction with PDCD6.|Pro-rich.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				GCCTGCCCTTGGGGAGCTGCT	0.488000														15			36		0	0	0.004289	0	0
ZNF644	84146	broad.mit.edu	37	1	91382403	91382403	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:91382403G>A	uc001dnw.3	-	5	4219	c.3936C>T	c.(3934-3936)tcC>tcT	p.S1312S	ZNF644_uc001dnv.3_Silent_p.S90S|ZNF644_uc001dnx.3_Silent_p.S90S	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	Homo sapiens zinc finger protein 644 (ZNF644), transcript variant 1, mRNA.	1312					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TTTCTGTAATGGAGGCAGGCT	0.398000														38			5		0	0	0.000602	0	0
TARS	6897	broad.mit.edu	37	5	33462103	33462103	+	Silent	SNP	T	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:33462103T>C	uc003jhy.3	+	14	2017	c.1722T>C	c.(1720-1722)acT>acC	p.T574T	TARS_uc010iup.1_Silent_p.T515T|TARS_uc011coc.2_Silent_p.T595T|TARS_uc003jhz.3_Silent_p.T470T|TARS_uc011cod.2_Silent_p.T453T	NM_152295	NP_689508	P26639	SYTC_HUMAN	Homo sapiens threonyl-tRNA synthetase (TARS), mRNA.	574					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	TTAATCTTACTTATGTAAGGT	0.353000														13			13		0	0	0.003163	0	0
BTAF1	9044	broad.mit.edu	37	10	93741920	93741920	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:93741920C>T	uc001khr.3	+	16	2084	c.1986C>T	c.(1984-1986)acC>acT	p.T662T	BTAF1_uc001khs.1_Silent_p.T332T|BTAF1_uc001kht.1_Silent_p.T100T	NM_003972	NP_003963	O14981	BTAF1_HUMAN	Homo sapiens BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) (BTAF1), mRNA.	662					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				GTGCCGACACCATCATGGAAG	0.473000														22			19		0	0	0.001523	0	0
GGT6	124975	broad.mit.edu	37	17	4461906	4461906	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:4461906C>T	uc010vsc.2	-	3	964	c.904G>A	c.(904-906)Gaa>Aaa	p.E302K	GGT6_uc010vsb.2_Missense_Mutation_p.E148K|GGT6_uc002fyd.4_Missense_Mutation_p.E296K|GGT6_uc002fyc.4_Missense_Mutation_p.E264K	NM_001122890	NP_001116362	Q6P531	GGT6_HUMAN	Homo sapiens gamma-glutamyltransferase 6 (GGT6), transcript variant 1, mRNA.	296					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TCTGCTGGTTCCAAAGTGGGC	0.657000														4			8		0	0	0.003080	0	0
CRAMP1L	57585	broad.mit.edu	37	16	1720746	1720746	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:1720746C>T	uc010uvh.2	+	18	3581	c.3581C>T	c.(3580-3582)cCc>cTc	p.P1194L	CRAMP1L_uc002cmf.3_Non-coding_Transcript	NM_020825	NP_065876	Q96RY5	CRML_HUMAN	Homo sapiens Crm, cramped-like (Drosophila) (CRAMP1L), mRNA.	1194	Ser-rich.					nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						TTGCTTGGCCCCAGCTTGTTG	0.572000														47			54		0	0	0.003610	0	0
ARSH	347527	broad.mit.edu	37	X	2931089	2931089	+	Splice_Site	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:2931089G>A	uc011mhj.2	+	3	215	c.215_splice	c.e3-1	p.G72_splice		NM_001011719	NP_001011719	Q5FYA8	ARSH_HUMAN	Homo sapiens arylsulfatase family, member H (ARSH), mRNA.	72						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TGAATTTAGGGATGGTGTCTG	0.498000														6			67		0	0	0.003610	0	0
FAT3	120114	broad.mit.edu	37	11	92600312	92600312	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:92600312C>T	uc001pdj.4	+	20	12081	c.12064C>T	c.(12064-12066)Ccc>Tcc	p.P4022S	FAT3_uc001pdi.4_Missense_Mutation_p.P462S	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	4022	EGF-like 2.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CGTGCTCTATCCCGACGCCTG	0.662000										TCGA Ovarian(4;0.039)				31			21		0	0	0.002780	0	0
ERVFRD-1	405754	broad.mit.edu	37	6	11104972	11104972	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:11104972C>T	uc003mzt.3	-	1	1054	c.572G>A	c.(571-573)cGg>cAg	p.R191Q	C6orf228_uc011dio.2_Intron|ERVFRD-1_uc021ylp.1_Missense_Mutation_p.R191Q	NM_207582	NP_997465	P60508	EFRD1_HUMAN	Homo sapiens endogenous retrovirus group FRD, member 1 (ERVFRD-1), mRNA.	191						integral to membrane|plasma membrane|virion				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(4)|stomach(1)	15						CTGGCAAAACCGGCTGGATTT	0.463000														63			94		0	0	0.003610	0	0
CHRNA7	1139	broad.mit.edu	37	15	32450620	32450620	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:32450620C>T	uc021sic.1	+	6	800	c.693C>T	c.(691-693)ccC>ccT	p.P231P	DKFZp434L187_uc001zfv.1_Intron|CHRNA7_uc010bae.2_Non-coding_Transcript|CHRNA7_uc001zft.3_Silent_p.P202P|CHRNA7_uc010baf.3_Silent_p.P21P|CHRNA7_uc010baj.1_Silent_p.P62P|CHRNA7_uc010bak.3_Silent_p.P117P	NM_001190455	NP_683709	P36544	ACHA7_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 7 (CHRNA7), transcript variant 2, mRNA.	202					activation of MAPK activity|calcium ion transport|cellular calcium ion homeostasis|memory|negative regulation of tumor necrosis factor production|positive regulation of angiogenesis|positive regulation of cell proliferation|response to hypoxia|response to nicotine	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|beta-amyloid binding|chloride channel regulator activity|nicotinic acetylcholine-activated cation-selective channel activity|protein homodimerization activity|toxin binding	p.T230T(1)|p.T230M(1)		endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Nicotine(DB00184)|Varenicline(DB01273)	GAGGAATCCCCGGCAAGAGGA	0.493000														20			15		0	0	0.003954	0	0
VWF	7450	broad.mit.edu	37	12	6128675	6128675	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:6128675C>T	uc001qnn.1	-	27	4159	c.3909G>A	c.(3907-3909)atG>atA	p.M1303I	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	1303	VWFA 1; binding site for platelet glycoprotein Ib.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GCCGCTCCATCATGTCCACCA	0.622000														51			18		0	0	0.001523	0	0
C1orf177	163747	broad.mit.edu	37	1	55277554	55277554	+	Missense_Mutation	SNP	G	A	A	rs139677684		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:55277554G>A	uc001cyb.4	+	4	622	c.568G>A	c.(568-570)Gag>Aag	p.E190K	C1orf177_uc001cya.4_Missense_Mutation_p.E190K	NM_001110533	NP_001104003	Q3ZCV2	CA177_HUMAN	Homo sapiens chromosome 1 open reading frame 177 (C1orf177), transcript variant 2, mRNA.	190										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						GTCTCATTCCGAGGGCCTCAT	0.617000														8			25		0	0	0.006320	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519910	113519910	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:113519910C>T	uc010ljy.1	-	3	1268	c.1237G>A	c.(1237-1239)Gga>Aga	p.G413R		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	413					glycogen metabolic process	integral to membrane		p.G413G(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTGATTTCTCCCATATTTGAA	0.403000														14			6		0	0	0.001168	0	0
CSMD2	114784	broad.mit.edu	37	1	34002637	34002637	+	Silent	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:34002637A>G	uc001bxm.1	-	61	10041	c.9864T>C	c.(9862-9864)aaT>aaC	p.N3288N	CSMD2_uc001bxn.1_Silent_p.N3144N	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	3144						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGCCCTGAGAATTGTTCTGTA	0.512000														60			16		0	0	0.001216	0	0
LPIN1	23175	broad.mit.edu	37	2	11913796	11913796	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:11913796A>G	uc010yjm.2	+	5	847	c.794A>G	c.(793-795)aAc>aGc	p.N265S	LPIN1_uc010yjn.2_Missense_Mutation_p.N216S|LPIN1_uc002rbt.3_Missense_Mutation_p.N216S|LPIN1_uc002rbs.3_Missense_Mutation_p.N216S	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	Homo sapiens lipin 1 (LPIN1), mRNA.	216					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity	p.G265V(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		CCTGAGGAAAACCTCTCCCTG	0.428000														72			59		0	0	0.003610	0	0
SLU7	10569	broad.mit.edu	37	5	159841390	159841390	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:159841390G>A	uc003lyg.3	-	2	415	c.260C>T	c.(259-261)cCa>cTa	p.P87L	SLU7_uc003lyh.1_Missense_Mutation_p.P87L|SLU7_uc003lyi.1_Missense_Mutation_p.P87L	NM_006425	NP_006416	O95391	SLU7_HUMAN	Homo sapiens SLU7 splicing factor homolog (S. cerevisiae) (SLU7), mRNA.	87					alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTCTGGTTGTGGTCTCTGGTG	0.388000														142			131		0	0	0.003610	0	0
SLC6A11	6538	broad.mit.edu	37	3	10980004	10980004	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:10980004G>A	uc003bvz.3	+	13	1849	c.1815G>A	c.(1813-1815)cgG>cgA	p.R605R		NM_014229	NP_055044	P48066	S6A11_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 11 (SLC6A11), mRNA.	605					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	p.R605R(2)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		TGAGCCCACGGATGGTGACAG	0.557000														48			11		0	0	0.001368	0	0
GTPBP5	26164	broad.mit.edu	37	20	60768522	60768522	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:60768522C>T	uc002yce.4	+	1	84	c.46C>T	c.(46-48)Cag>Tag	p.Q16*	GTPBP5_uc011aaf.2_Nonsense_Mutation_p.Q16*|GTPBP5_uc011aab.2_Intron|GTPBP5_uc011aac.2_Intron|GTPBP5_uc011aad.2_5'UTR|GTPBP5_uc011aae.2_Intron	NM_015666	NP_056481	Q9H4K7	GTPB5_HUMAN	Homo sapiens GTP binding protein 5 (putative) (GTPBP5), mRNA.	16	Localized in the mitocondria.				ribosome biogenesis	mitochondrion	GTP binding|GTPase activity|magnesium ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)	15	Breast(26;3.52e-09)		BRCA - Breast invasive adenocarcinoma(19;2.5e-08)			GACCGTGTTTCAGGGCGTGGG	0.577000														72			26		0	0	0.001512	0	0
RIMS2	9699	broad.mit.edu	37	8	104928661	104928661	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:104928661G>A	uc003yls.3	+	5	1507	c.1266G>A	c.(1264-1266)tgG>tgA	p.W422*	RIMS2_uc003ylp.3_Nonsense_Mutation_p.W644*|RIMS2_uc003ylw.2_Nonsense_Mutation_p.W452*|RIMS2_uc003ylq.3_Nonsense_Mutation_p.W452*|RIMS2_uc003ylr.3_Nonsense_Mutation_p.W499*|RIMS2_uc003ylt.3_Nonsense_Mutation_p.W45*|RIMS2_uc003ylu.1_Nonsense_Mutation_p.W35*|RIMS2_uc003ylv.1_Nonsense_Mutation_p.W35*	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	722					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TATTAGAATGGAATGGAAGAC	0.353000										HNSCC(12;0.0054)				32			12		0	0	0.001368	0	0
C4orf51	646603	broad.mit.edu	37	4	146601511	146601511	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:146601511C>T	uc003ikk.3	+	0	156	c.156C>T	c.(154-156)taC>taT	p.Y52Y		NM_001080531	NP_001074000	C9J302	CD051_HUMAN	Homo sapiens chromosome 4 open reading frame 51 (C4orf51), mRNA.	52										haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	6						CAGGCAGTTACCGGAAAAAAC	0.438000														46			36		0	0	0.003755	0	0
FAT4	79633	broad.mit.edu	37	4	126389873	126389873	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:126389873A>T	uc003ifj.4	+	10	12106	c.12106A>T	c.(12106-12108)Aga>Tga	p.R4036*	FAT4_uc011cgp.2_Nonsense_Mutation_p.R2299*|FAT4_uc003ifi.1_Nonsense_Mutation_p.R1514*	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4036	Laminin G-like 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGAAAGACTAAGATTCTCTTA	0.433000														54			27		0	0	0.006320	0	0
CADM2	253559	broad.mit.edu	37	3	85935354	85935354	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:85935354C>T	uc003dql.3	+	3	385	c.385C>T	c.(385-387)Cct>Tct	p.P129S	CADM2_uc003dqj.3_Missense_Mutation_p.P127S|CADM2_uc003dqk.3_Missense_Mutation_p.P136S|CADM2_uc003dqm.2_Missense_Mutation_p.P19S|CADM2_uc021xay.1_Missense_Mutation_p.P19S|CADM2_uc021xaz.1_Missense_Mutation_p.P19S|CADM2_uc021xba.1_Missense_Mutation_p.P19S	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	Homo sapiens cell adhesion molecule 2 (CADM2), transcript variant 3, mRNA.	127	Ig-like C2-type 1.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		TCCTGAAAAGCCTCAGATTAG	0.388000														28			5		0	0	0.001984	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634062	70634062	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:70634062G>A	uc001xly.3	-	1	1832	c.1078C>T	c.(1078-1080)Cgt>Tgt	p.R360C	SLC8A3_uc001xlw.3_Missense_Mutation_p.R360C|SLC8A3_uc001xlx.3_Missense_Mutation_p.R360C|SLC8A3_uc001xlz.3_Missense_Mutation_p.R360C|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	360					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GTCATCATACGAGTGGCTTGG	0.522000														40			38		0	0	0.003755	0	0
MUC16	94025	broad.mit.edu	37	19	9074295	9074295	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:9074295C>T	uc002mkp.3	-	2	13355	c.13151G>A	c.(13150-13152)gGa>gAa	p.G4384E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4386	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						GATGGTCACTCCTGAAGATTC	0.463000														29			29		0	0	0.002096	0	0
ALG13	79868	broad.mit.edu	37	X	110951286	110951286	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:110951286A>G	uc011msy.2	+	3	516	c.415A>G	c.(415-417)Att>Gtt	p.I139V	ALG13_uc011msw.2_Missense_Mutation_p.I61V|ALG13_uc011msx.2_Missense_Mutation_p.I35V|ALG13_uc011msz.2_Missense_Mutation_p.I61V|ALG13_uc011mta.2_Missense_Mutation_p.I35V|ALG13_uc011mtb.2_Missense_Mutation_p.I35V	NM_001099922	NP_001093392	Q9NP73	ALG13_HUMAN	Homo sapiens asparagine-linked glycosylation 13 homolog (S. cerevisiae) (ALG13), transcript variant 1, mRNA.	139					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity|carbohydrate binding			endometrium(2)|lung(10)|skin(1)	13						AGCCAAGTCCATTGCTTCTGC	0.517000														0			12		0	0	0.001368	0	0
MUC16	94025	broad.mit.edu	37	19	9063559	9063559	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:9063559G>A	uc002mkp.3	-	2	24091	c.23887C>T	c.(23887-23889)Ccc>Tcc	p.P7963S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7965	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P7963P(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCCAGAAGGGGAGGGCTCATC	0.453000														15			14		0	0	0.002450	0	0
MYH13	8735	broad.mit.edu	37	17	10250066	10250066	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:10250066C>T	uc002gmk.1	-	12	1284	c.1194G>A	c.(1192-1194)ctG>ctA	p.L398L	MYH13_uc010vvf.1_Silent_p.L73L	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	398	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						ACAGGCCCTTCAGCATTTCTG	0.453000														21			13		0	0	0.001855	0	0
HYDIN	54768	broad.mit.edu	37	16	70891707	70891707	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:70891707C>T	uc002ezr.3	-	71	12344	c.12193G>A	c.(12193-12195)Gag>Aag	p.E4065K	HYDIN_uc010cfy.3_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	4066										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATGTTGTGCTCGGGAATTAGG	0.468000														14			10		0	0	0.002450	0	0
CDH23	64072	broad.mit.edu	37	10	73464786	73464786	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:73464786C>T	uc001jrx.4	+	23	3236	c.2846C>T	c.(2845-2847)aCc>aTc	p.T949I	CDH23_uc001jry.3_Missense_Mutation_p.T949I|CDH23_uc001jrz.3_Missense_Mutation_p.T949I	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	951	Cadherin 9.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GTCACCACCACCGAGCTGGAC	0.662000														40			35		0	0	0.004878	0	0
TNR	7143	broad.mit.edu	37	1	175372465	175372465	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:175372465C>T	uc001gkp.1	-	1	868	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K	TNR_uc009wwu.1_Missense_Mutation_p.E263K|TNR_uc010pmz.1_Missense_Mutation_p.E263K	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	263	Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.E263K(2)|p.R262R(1)		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)					CACCTCAGTTCCCTGCAGTCC	0.637000														7			28		0	0	0.005443	0	0
SPOCK2	9806	broad.mit.edu	37	10	73822656	73822656	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:73822656G>A	uc001jso.2	-	10	1582	c.1137C>T	c.(1135-1137)atC>atT	p.I379I	ANAPC16_uc021psn.1_Intron|SPOCK2_uc001jsp.3_Silent_p.I379I	NM_001244950	NP_001231879	Q92563	TICN2_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2 (SPOCK2), transcript variant 3, mRNA.	379					extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly	proteinaceous extracellular matrix	calcium ion binding			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						AGAAGCCCACGATGTCATCTG	0.672000														8			6		0	0	0.003080	0	0
MAS1L	116511	broad.mit.edu	37	6	29454781	29454781	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:29454781G>A	uc011dlq.2	-	0	899	c.899C>T	c.(898-900)tCc>tTc	p.S300F		NM_052967	NP_443199	P35410	MAS1L_HUMAN	Homo sapiens MAS1 oncogene-like (MAS1L), mRNA.	300						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						GAGGAACAAGGAAATTAAATA	0.468000														14			17		0	0	0.006122	0	0
TONSL	4796	broad.mit.edu	37	8	145657820	145657820	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:145657820A>G	uc011llg.2	-	22	3598	c.3583T>C	c.(3583-3585)Tcc>Ccc	p.S1195P	AK298596_uc011llh.1_5'Flank	NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	Homo sapiens tonsoku-like, DNA repair protein (TONSL), mRNA.	1195					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						TAGGACAGGGACAGGGTCTTC	0.677000														23			36		0	0	0.002522	0	0
C8orf22	492307	broad.mit.edu	37	8	49986891	49986891	+	Splice_Site	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:49986891G>A	uc003xqq.4	+	4	416	c.233_splice	c.e4+1	p.G78_splice		NM_001007176	NP_001007177	Q8WWR9	PDPFL_HUMAN	Homo sapiens chromosome 8 open reading frame 22 (C8orf22), mRNA.	78										large_intestine(1)|lung(7)|prostate(1)	9		all_cancers(86;0.0452)|all_epithelial(80;0.000863)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				GTCTGCTACTGGGTGAGTTTT	0.408000														17			7		0	0	0.003080	0	0
ROBO1	6091	broad.mit.edu	37	3	78656094	78656094	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:78656094G>A	uc003dqe.2	-	28	4741	c.4533C>T	c.(4531-4533)ctC>ctT	p.L1511L	ROBO1_uc003dqc.2_Silent_p.L1411L|ROBO1_uc003dqd.2_Silent_p.L1466L|ROBO1_uc003dqb.2_Silent_p.L1472L|ROBO1_uc010hoh.2_Silent_p.L703L|ROBO1_uc011bgl.1_Silent_p.L1083L	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA.	1511					Roundabout signaling pathway|activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis	cell surface|cytoplasm|integral to plasma membrane	LRR domain binding|axon guidance receptor activity|identical protein binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CCATAGAAGGGAGTTTTGGCA	0.488000														30			59		0	0	0.003610	0	0
PRND	23627	broad.mit.edu	37	20	4705663	4705663	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:4705663C>T	uc021waf.1	+	0	466	c.466C>T	c.(466-468)Cgg>Tgg	p.R156W	PRND_uc002wkz.3_Missense_Mutation_p.R156W	NM_012409	NP_036541	Q9UKY0	PRND_HUMAN	Homo sapiens prion protein 2 (dublet) (PRND), mRNA.	156					protein homooligomerization	anchored to membrane|plasma membrane				breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	13						CGCAGGACTTCGGGTCACCAT	0.597000														12			10		0	0	0.001368	0	0
PDILT	204474	broad.mit.edu	37	16	20376749	20376749	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:20376749C>T	uc002dhc.1	-	8	1453	c.1230G>A	c.(1228-1230)gtG>gtA	p.V410V		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA.	410	Thioredoxin.				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	p.V410E(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TACAGAACATCACAAATACGT	0.433000														29			25		0	0	0.007291	0	0
MICALL1	85377	broad.mit.edu	37	22	38321962	38321962	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:38321962C>T	uc003aui.3	+	7	1652	c.1377C>T	c.(1375-1377)tcC>tcT	p.S459S		NM_033386	NP_203744	Q8N3F8	MILK1_HUMAN	Homo sapiens MICAL-like 1 (MICALL1), mRNA.	459	Pro-rich.					cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					CACCCAAGTCCCTGCACCCCT	0.677000														8			5		0	0	0.001984	0	0
USP34	9736	broad.mit.edu	37	2	61416152	61416152	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:61416152T>A	uc002sbe.3	-	78	9948	c.9926A>T	c.(9925-9927)aAc>aTc	p.N3309I	USP34_uc002sbd.3_Missense_Mutation_p.N111I	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	3309					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TAGAGCTGGGTTTAACTGTTT	0.428000														38			37		0	0	0.006230	0	0
MADD	8567	broad.mit.edu	37	11	47311486	47311486	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:47311486A>G	uc001ner.1	+	17	3076	c.2885A>G	c.(2884-2886)aAc>aGc	p.N962S	MADD_uc001neq.2_Missense_Mutation_p.N942S|MADD_uc001nev.1_Missense_Mutation_p.N899S|MADD_uc001nes.1_Missense_Mutation_p.N919S|MADD_uc001net.1_Missense_Mutation_p.N962S|MADD_uc009yln.1_Missense_Mutation_p.N899S|MADD_uc001neu.1_Missense_Mutation_p.N899S|MADD_uc001nez.2_Missense_Mutation_p.N899S|MADD_uc001new.2_Missense_Mutation_p.N942S|MADD_uc001nex.2_Missense_Mutation_p.N962S|MADD_uc009ylo.3_5'Flank	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	Homo sapiens MAP-kinase activating death domain (MADD), transcript variant 4, mRNA.	962					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	Rab guanyl-nucleotide exchange factor activity|death receptor binding|protein kinase activator activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		GGCTGGCTCAACATGAAAAAG	0.602000														7			16		0	0	0.004007	0	0
MTTP	4547	broad.mit.edu	37	4	100503179	100503179	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:100503179C>T	uc011cej.2	+	1	273	c.260C>T	c.(259-261)tCc>tTc	p.S87F	MTTP_uc003hvc.4_Missense_Mutation_p.S60F|MTTP_uc003hvb.3_Missense_Mutation_p.S60F	NM_000253	NP_000244	P55157	MTP_HUMAN	Homo sapiens microsomal triglyceride transfer protein (MTTP), mRNA.	60	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	TACCGCATTTCCTCCAACGTG	0.463000														28			44		0	0	0.003610	0	0
COBL	23242	broad.mit.edu	37	7	51261210	51261210	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:51261210G>A	uc003tps.3	-	2	507	c.322C>T	c.(322-324)Cgg>Tgg	p.R108W	COBL_uc003tpr.4_Missense_Mutation_p.R108W|COBL_uc011kcl.2_Missense_Mutation_p.R108W|COBL_uc010kzc.3_Missense_Mutation_p.R108W|COBL_uc003tpt.3_Missense_Mutation_p.R108W|COBL_uc003tpp.4_5'Flank|COBL_uc003tpq.4_Missense_Mutation_p.R24W	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	108								p.I107F(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TCTGAAGACCGAATTTCAAGG	0.418000														1			26		0	0	0.001512	0	0
GRM6	2916	broad.mit.edu	37	5	178413504	178413504	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:178413504G>A	uc003mjr.3	-	7	1930	c.1751C>T	c.(1750-1752)cCc>cTc	p.P584L	GRM6_uc003mjq.3_5'Flank|GRM6_uc010jla.1_Missense_Mutation_p.P167L|GRM6_uc003mjs.1_Missense_Mutation_p.P204L	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	584					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GGCTGCCCAGGGGGAGGACCA	0.697000														4			10		0	0	0.006214	0	0
FILIP1	27145	broad.mit.edu	37	6	76024143	76024143	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:76024143C>T	uc010kbe.3	-	5	1944	c.1414G>A	c.(1414-1416)Gaa>Aaa	p.E472K	FILIP1_uc003phy.1_Missense_Mutation_p.E469K|FILIP1_uc003phz.3_Missense_Mutation_p.E370K|FILIP1_uc003pia.3_Missense_Mutation_p.E469K|FILIP1_uc003pib.1_Missense_Mutation_p.E221K	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	469										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						ACCTCCAATTCATTTAGCAGG	0.363000														41			31		0	0	0.003755	0	0
SLC28A3	64078	broad.mit.edu	37	9	86893221	86893221	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:86893221C>T	uc010mpz.3	-	17	2134	c.1988G>A	c.(1987-1989)gGa>gAa	p.G663E	SLC28A3_uc011lsy.2_Missense_Mutation_p.G594E|SLC28A3_uc004anu.2_Missense_Mutation_p.G663E	NM_001199633	NP_001186562	Q9HAS3	S28A3_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 3 (SLC28A3), transcript variant 1, mRNA.	663					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						ACTGTGGTTTCCTCCTGGGAT	0.463000														13			23		0	0	0.006320	0	0
ADPRHL1	113622	broad.mit.edu	37	13	114078655	114078655	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:114078655T>C	uc001vtq.1	-	5	871	c.784A>G	c.(784-786)Aag>Gag	p.K262E	ADPRHL1_uc001vtp.1_Missense_Mutation_p.K180E	NM_138430	NP_954631	Q8NDY3	ARHL1_HUMAN	Homo sapiens ADP-ribosylhydrolase like 1 (ADPRHL1), transcript variant 1, mRNA.	262					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			GAGCTCCACTTCCTGTAGGTC	0.592000														23			22		0	0	0.003330	0	0
RNMT	8731	broad.mit.edu	37	18	13742516	13742516	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:13742516C>T	uc002ksk.1	+	6	1071	c.1004C>T	c.(1003-1005)tCa>tTa	p.S335L	RNMT_uc002ksl.1_Missense_Mutation_p.S335L|RNMT_uc002ksm.1_Missense_Mutation_p.S335L|RNMT_uc010dlk.2_Missense_Mutation_p.S335L|RNMT_uc010xae.1_Non-coding_Transcript	NM_003799	NP_003790	O43148	MCES_HUMAN	Homo sapiens RNA (guanine-7-) methyltransferase (RNMT), mRNA.	335					mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	RNA binding|mRNA (guanine-N7-)-methyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						GAAACAGAATCATTTGGAAAT	0.328000														40			15		0	0	0.007413	0	0
GRAMD1A	57655	broad.mit.edu	37	19	35500120	35500120	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:35500120G>A	uc010xsf.1	+	1	121	c.121G>A	c.(121-123)Gaa>Aaa	p.E41K	GRAMD1A_uc002nxi.1_Missense_Mutation_p.E123K|GRAMD1A_uc010xse.1_Missense_Mutation_p.E36K|GRAMD1A_uc002nxk.2_Missense_Mutation_p.E36K|GRAMD1A_uc002nxl.2_5'UTR	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	Homo sapiens GRAM domain containing 1A (GRAMD1A), transcript variant 1, mRNA.	36						integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			ACCTGAGCCAGAACCAGGCAC	0.662000														28			28		0	0	0.007291	0	0
PRKG2	5593	broad.mit.edu	37	4	82125881	82125881	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:82125881C>T	uc003hmh.2	-	0	334	c.321G>A	c.(319-321)cgG>cgA	p.R107R	PRKG2_uc011cch.1_Silent_p.R107R	NM_006259	NP_006250	Q13237	KGP2_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA.	107					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						CAGAGGTCTTCCGGTGGACCT	0.567000														60			23		0	0	0.002299	0	0
PKLR	5313	broad.mit.edu	37	1	155263257	155263258	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:155263257_155263258GG>AA	uc001fkb.4	-	7	1279_1280	c.1240_1241CC>TT	c.(1240-1242)cct>TTt	p.P414F	PKLR_uc001fka.4_Missense_Mutation_p.P383F	NM_000298	NP_000289	P30613	KPYR_HUMAN	Homo sapiens pyruvate kinase, liver and RBC (PKLR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	414					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity	p.F413F(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	CGCTTCCACAGGGAAGTTGCCC	0.589000														20			7		0	0	0.004672	0	0
PDIA2	64714	broad.mit.edu	37	16	336885	336885	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:336885G>A	uc002cgn.1	+	14	2581	c.1473G>A	c.(1471-1473)ctG>ctA	p.L491L	LUC7L_uc021szo.1_Intron|PDIA2_uc002cgo.1_Silent_p.L491L|PDIA2_uc010bqt.1_Silent_p.L336L	NM_006849	NP_006840	Q13087	PDIA2_HUMAN	Homo sapiens protein disulfide isomerase family A, member 2 (PDIA2), mRNA.	491	Thioredoxin 2.				apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding			breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CCAAGTTCCTGGACAACGGGG	0.642000														3			6		0	0	0.001984	0	0
TRIM55	84675	broad.mit.edu	37	8	67064807	67064807	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:67064807C>T	uc003xvv.3	+	7	1407	c.1181C>T	c.(1180-1182)tCc>tTc	p.S394F	TRIM55_uc003xvu.3_Missense_Mutation_p.S394F|TRIM55_uc003xvw.3_Missense_Mutation_p.S394F|TRIM55_uc003xvx.3_Intron	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA.	394						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			CTTCCAGTTTCCTCTCCAGAG	0.562000														38			13		0	0	0.003163	0	0
PSG4	5672	broad.mit.edu	37	19	43699284	43699284	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:43699284G>A	uc002ovy.3	-	3	953	c.851C>T	c.(850-852)cCc>cTc	p.P284L	PSG4_uc010xwk.1_Intron|PSG4_uc002ovz.3_Intron|PSG4_uc002owb.3_Missense_Mutation_p.P191L	NM_002780	NP_002771	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA.	284	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				CTTTACCCTGGGACTGACAGG	0.453000														120			128		0	0	0.003610	0	0
APOB	338	broad.mit.edu	37	2	21260128	21260128	+	Splice_Site	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:21260128C>T	uc002red.3	-	6	666	c.538_splice	c.e6-1	p.D180_splice		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	180	Vitellogenin.				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)	ACACGGTATCCTATGGAGGAA	0.498000														170			113		0	0	0.003610	0	0
PAPOLG	64895	broad.mit.edu	37	2	60988877	60988877	+	Splice_Site	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:60988877C>T	uc002sai.3	+	3	429	c.180_splice	c.e3-1	p.R60_splice	PAPOLG_uc002saj.3_Splice_Site|PAPOLG_uc002sak.3_Splice_Site	NM_022894	NP_075045	Q9BWT3	PAPOG_HUMAN	Homo sapiens poly(A) polymerase gamma (PAPOLG), mRNA.	60					RNA polyadenylation|mRNA processing|transcription, DNA-dependent	nucleus	ATP binding|RNA binding|metal ion binding|polynucleotide adenylyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			TTTTTATAGGCTGGTGGTTCT	0.328000														47			46		0	0	0.003610	0	0
C6	729	broad.mit.edu	37	5	41195918	41195918	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:41195918G>A	uc003jmk.2	-	4	773	c.563C>T	c.(562-564)cCt>cTt	p.P188L	C6_uc003jml.1_Missense_Mutation_p.P188L	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	188	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTGTACACTAGGGATGGGATT	0.423000														28			33		0	0	0.003271	0	0
FOXO3	2309	broad.mit.edu	37	6	108985383	108985383	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:108985383G>T	uc003psk.2	+	2	1663	c.1347G>T	c.(1345-1347)caG>caT	p.Q449H	FOXO3_uc003psm.2_Missense_Mutation_p.Q449H|FOXO3_uc011ean.1_Missense_Mutation_p.Q229H|FOXO3_uc010kdj.1_Missense_Mutation_p.Q229H	NM_201559	NP_963853	O43524	FOXO3_HUMAN	Homo sapiens forkhead box O3 (FOXO3), transcript variant 2, mRNA.	449					antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		CTCCCATGCAGACCATCCAAG	0.557000														34			27		9.8876e-21	1.3854e-20	0.004878	1	0
CRP	1401	broad.mit.edu	37	1	159683855	159683855	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:159683855C>T	uc001ftw.3	-	1	239	c.135G>A	c.(133-135)acG>acA	p.T45T	CRP_uc001ftx.1_Silent_p.T45T|CRP_uc001fty.1_5'Flank	NM_000567	NP_000558	P02741	CRP_HUMAN	Homo sapiens C-reactive protein, pentraxin-related (CRP), mRNA.	45	Pentaxin.				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		Gram-positive bacterial cell surface binding|choline binding|low-density lipoprotein particle binding|metal ion binding|protein binding	p.T45T(4)		breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	TGAGAGGCTTCGTTAACGGTG	0.478000														77			24		0	0	0.002780	0	0
IQCC	55721	broad.mit.edu	37	1	32672920	32672920	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:32672920G>A	uc009vua.2	+	4	925	c.878G>A	c.(877-879)gGg>gAg	p.G293E	IQCC_uc001bum.2_Missense_Mutation_p.G213E|IQCC_uc010ogz.1_Missense_Mutation_p.G113E|DCDC2B_uc001bun.2_5'Flank	NM_001160042	NP_001153514	Q4KMZ1	IQCC_HUMAN	Homo sapiens IQ motif containing C (IQCC), transcript variant 1, mRNA.	213										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CTAGAACATGGGGAACAGGCC	0.557000														15			36		0	0	0.003755	0	0
CNTN3	5067	broad.mit.edu	37	3	74419075	74419075	+	Silent	SNP	A	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:74419075A>T	uc003dpm.1	-	5	806	c.726T>A	c.(724-726)ggT>ggA	p.G242G		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.	242	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TCACAGTCGAACCTTTAGCTG	0.343000														7			7		0	0	0.000673	0	0
MYO1H	283446	broad.mit.edu	37	12	109865298	109865298	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:109865298G>A	uc010sxn.1	+	17	1808	c.1808G>A	c.(1807-1809)aGg>aAg	p.R603K		NM_001101421	NP_001094891	B4DNW6	B4DNW6_HUMAN	Homo sapiens myosin IH (MYO1H), mRNA.	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						TTCCTCATAAGGCATCAGATC	0.463000														87			103		0	0	0.003610	0	0
KCNB2	9312	broad.mit.edu	37	8	73848342	73848342	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:73848342G>A	uc003xzb.3	+	2	1340	c.752G>A	c.(751-753)cGa>cAa	p.R251Q		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	251					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.R251L(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TACCTTTTGCGATTCTTATCC	0.448000														11			26		0	0	0.004656	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178552073	178552074	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:178552073_178552074GG>AA	uc003mjw.3	-	18	2960_2961	c.2858_2859CC>TT	c.(2857-2859)tcc>tTT	p.S953F		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	953	TSP type-1 3.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.S953F(2)|p.R952G(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TGGCGTGCACGGAGCGGGTGGT	0.698000														76			54		0	0	0.004672	0	0
C3orf18	51161	broad.mit.edu	37	3	50598400	50598400	+	Missense_Mutation	SNP	C	T	T	rs140626565		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:50598400C>T	uc003dar.3	-	4	937	c.356G>A	c.(355-357)cGg>cAg	p.R119Q	C3orf18_uc010hlo.3_Missense_Mutation_p.R99Q|C3orf18_uc003das.3_Missense_Mutation_p.R119Q|C3orf18_uc011bdr.2_Non-coding_Transcript|C3orf18_uc010hlp.3_Intron|C3orf18_uc003dat.3_Missense_Mutation_p.R119Q	NM_016210	NP_057294	Q9UK00	CC018_HUMAN	Homo sapiens chromosome 3 open reading frame 18 (C3orf18), transcript variant 1, mRNA.	119						integral to membrane				lung(1)|pancreas(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.0175)|Kidney(197;0.0207)		GGCGGCGTCCCGCCCATGCTC	0.632000														38			18		0	0	0.006122	0	0
OR6M1	390261	broad.mit.edu	37	11	123676245	123676245	+	Silent	SNP	G	A	A	rs142482669		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:123676245G>A	uc010rzz.2	-	0	813	c.813C>T	c.(811-813)gcC>gcT	p.A271A		NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily M, member 1 (OR6M1), mRNA.	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		TGAGGACAGCGGCCACCTTGT	0.488000														12			10		0	0	0.000673	0	0
FCGBP	8857	broad.mit.edu	37	19	40354352	40354352	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:40354352C>T	uc002omp.4	-	34	16125	c.16117G>A	c.(16117-16119)Gga>Aga	p.G5373R		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	5373	VWFD 13.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCAAAGTTTCCACAGGCCCCA	0.572000														18			9		0	0	0.004482	0	0
NPAS3	64067	broad.mit.edu	37	14	34247775	34247775	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:34247775G>A	uc001wru.3	+	8	1214	c.1150G>A	c.(1150-1152)Gac>Aac	p.D384N	NPAS3_uc001wrs.3_Missense_Mutation_p.D371N|NPAS3_uc001wrv.3_Missense_Mutation_p.D354N|NPAS3_uc001wrt.3_Missense_Mutation_p.D352N	NM_001164749	NP_001158221	Q8IXF0	NPAS3_HUMAN	Homo sapiens neuronal PAS domain protein 3 (NPAS3), transcript variant 1, mRNA.	384	PAC.|PAS 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CAGTCACTTGGACTGTAAGTA	0.488000														20			18		0	0	0.001216	0	0
DCC	1630	broad.mit.edu	37	18	50278588	50278588	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:50278588G>A	uc002lfe.2	+	1	872	c.256G>A	c.(256-258)Gat>Aat	p.D86N	DCC_uc010xdr.1_5'UTR	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	86	Ig-like C2-type 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CTTGGGAATGGATGAAAGGAA	0.507000														23			30		0	0	0.005524	0	0
PARP4	143	broad.mit.edu	37	13	25058797	25058797	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:25058797G>A	uc001upl.3	-	11	1548	c.1442C>T	c.(1441-1443)tCg>tTg	p.S481L	PARP4_uc010tdc.2_Missense_Mutation_p.S481L	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA.	481	PARP catalytic.				DNA repair|cell death|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|NAD+ ADP-ribosyltransferase activity|enzyme binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		ATACCTGAGCGAATCACTGAA	0.418000														164			44		0	0	0.003610	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174719	150174719	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:150174719C>T	uc003whj.3	+	4	2179	c.1849C>T	c.(1849-1851)Ctt>Ttt	p.L617F		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	617						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GGTGAAAGCTCTTTTAACAAA	0.443000														54			47		0	0	0.003610	0	0
FAM83E	54854	broad.mit.edu	37	19	49104498	49104499	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:49104498_49104499GG>AA	uc002pjn.2	-	4	1369_1370	c.1304_1305CC>TT	c.(1303-1305)ccc>cTT	p.P435L		NM_017708	NP_060178	Q2M2I3	FA83E_HUMAN	Homo sapiens family with sequence similarity 83, member E (FAM83E), mRNA.	435										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GGCGGTGGGCGGGGGGCAGGGG	0.688000														11			12		0	0	0.004672	0	0
FRG2B	441581	broad.mit.edu	37	10	135440205	135440205	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:135440205G>A	uc010qvg.2	-	0	95	c.42C>T	c.(40-42)tcC>tcT	p.S14S		NM_001080998	NP_001074467	Q96QU4	FRG2B_HUMAN	Homo sapiens FSHD region gene 2 family, member B (FRG2B), mRNA.	14						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		AGCACTGGATGGAGGAGCAGT	0.507000														174			22		0	0	0.001512	0	0
ZNF827	152485	broad.mit.edu	37	4	146824297	146824297	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:146824297C>T	uc003ikn.3	-	1	162	c.114G>A	c.(112-114)gaG>gaA	p.E38E	ZNF827_uc003ikm.3_Silent_p.E38E|ZNF827_uc010iox.3_Intron	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	Homo sapiens zinc finger protein 827 (ZNF827), mRNA.	38					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					CTGACGGAGTCTCTGAAGAGT	0.522000														136			15		0	0	0.002780	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48603457	48603458	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:48603457_48603458GG>AA	uc010wmr.2	+	13	2289_2290	c.2127_2128GG>AA	c.(2125-2130)agggaa>agAAaa	p.E710K	MYCBPAP_uc002iqz.3_Non-coding_Transcript	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Homo sapiens MYCBP associated protein (MYCBPAP), mRNA.	673					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			AGGCCCTCAGGGAATCCGGGTC	0.589000														21			14		0	0	0.004672	0	0
DOCK2	1794	broad.mit.edu	37	5	169174492	169174492	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:169174492C>T	uc003maf.3	+	22	2440	c.2360C>T	c.(2359-2361)aCt>aTt	p.T787I	DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Missense_Mutation_p.T279I	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	787					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAATACAAAACTACCATCCTT	0.358000														17			10		0	0	0.000978	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55284899	55284899	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:55284899G>A	uc010erz.1	+	2	223	c.185G>A	c.(184-186)aGa>aAa	p.R62K	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR2DL1_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL1_uc002qha.1_Intron|GQ422373_uc021vbl.1_5'Flank|KIR2DL1_uc002qhb.1_Missense_Mutation_p.R62K	NM_014218	NP_055033	P43626	KI2L1_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 (KIR2DL1), mRNA.	62	Ig-like C2-type 1.				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		CTTCTGCACAGAGAGGGGATG	0.532000														68			43		0	0	0.003610	0	0
MAMSTR	284358	broad.mit.edu	37	19	49216676	49216676	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:49216676G>A	uc002pkg.2	-	9	1158	c.1096C>T	c.(1096-1098)Ccc>Tcc	p.P366S	MAMSTR_uc002pkf.2_Missense_Mutation_p.P263S	NM_001130915	NP_872380	Q6ZN01	MASTR_HUMAN	Homo sapiens MEF2 activating motif and SAP domain containing transcriptional regulator (MAMSTR), transcript variant 1, mRNA.	366	Pro-rich.|Ser-rich.|Transcription activation (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(1)|ovary(1)	2						GGGTCCCTGGGAGAAGGGGAG	0.647000											OREG0025608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		18			12		0	0	0.001855	0	0
DDX39A	10212	broad.mit.edu	37	19	14520412	14520412	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:14520412G>A	uc002myo.3	-	7	1028	c.910C>T	c.(910-912)Cag>Tag	p.Q304*	DDX39A_uc010xnp.2_Nonsense_Mutation_p.Q304*|DDX39A_uc010dzl.3_Intron	NM_005804	NP_005795	O00148	DX39A_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A (DDX39A), transcript variant 1, mRNA.	304	Helicase C-terminal.				mRNA export from nucleus|nuclear mRNA splicing, via spliceosome	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|endometrium(5)|kidney(1)|lung(2)|ovary(1)|pancreas(1)	11						ACGAGGAGCTGGGCCAGGGCC	0.662000														27			19		0	0	0.002299	0	0
RGS3	5998	broad.mit.edu	37	9	116258097	116258097	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:116258097G>C	uc004bhq.3	+	8	930	c.721G>C	c.(721-723)Ggg>Cgg	p.G241R	RGS3_uc004bhr.3_Missense_Mutation_p.G129R|RGS3_uc004bhs.3_Missense_Mutation_p.G131R	NM_144488	NP_652759	P49796	RGS3_HUMAN	Homo sapiens regulator of G-protein signaling 3 (RGS3), transcript variant 6, mRNA.	241					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CATGAGCTTTGGGGTGAAGTC	0.522000														20			34		0	0	0.007835	0	0
HLA-DRA	3122	broad.mit.edu	37	6	32411162	32411162	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:32411162C>T	uc003obh.3	+	2	638	c.529C>T	c.(529-531)Ccc>Tcc	p.P177S	HLA-DRA_uc003obi.3_Missense_Mutation_p.P152S	NM_019111	NP_061984	P01903	DRA_HUMAN	Homo sapiens major histocompatibility complex, class II, DR alpha (HLA-DRA), mRNA.	177	Alpha-2.|Ig-like C1-type.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|integral to plasma membrane|late endosome membrane|lysosomal membrane	MHC class II receptor activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						CCACTATCTCCCCTTCCTGCC	0.542000									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of					28			24		0	0	0.002780	0	0
SLC26A8	116369	broad.mit.edu	37	6	35911718	35911718	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:35911718C>T	uc003olm.3	-	19	2983	c.2872G>A	c.(2872-2874)Gat>Aat	p.D958N	SLC26A8_uc010jwa.3_Non-coding_Transcript|SLC26A8_uc003olk.3_Missense_Mutation_p.D540N|SLC26A8_uc003oll.3_Missense_Mutation_p.D853N|SLC26A8_uc003oln.3_Missense_Mutation_p.D958N	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN	Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.	958	Interaction with RACGAP1.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GAGTATGAATCCATAGGATGG	0.493000														69			55		0	0	0.003610	0	0
SH2D4A	63898	broad.mit.edu	37	8	19221715	19221715	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:19221715C>T	uc003wzc.3	+	6	1147	c.839C>T	c.(838-840)cCg>cTg	p.P280L	SH2D4A_uc003wzb.3_Missense_Mutation_p.P280L|SH2D4A_uc011kym.2_Missense_Mutation_p.P235L	NM_001174159	NP_071354	Q9H788	SH24A_HUMAN	Homo sapiens SH2 domain containing 4A (SH2D4A), transcript variant 2, mRNA.	280						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		TTGCGTGTTCCGCAGAAACCA	0.537000														4			5		0	0	0.000602	0	0
ACO2	50	broad.mit.edu	37	22	41919875	41919875	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:41919875C>T	uc003bac.3	+	11	1434	c.1412C>T	c.(1411-1413)tCc>tTc	p.S471F		NM_001098	NP_001089	Q99798	ACON_HUMAN	Homo sapiens aconitase 2, mitochondrial (ACO2), nuclear gene encoding mitochondrial protein, mRNA.	471					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						ATCGTCACCTCCTACAACAGG	0.592000														31			12		0	0	0.002450	0	0
C5orf42	65250	broad.mit.edu	37	5	37170386	37170386	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:37170386G>A	uc011cpa.1	-	32	6450	c.6219C>T	c.(6217-6219)tcC>tcT	p.S2073S	C5orf42_uc011coy.1_Silent_p.S573S|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Silent_p.S1148S|C5orf42_uc003jkr.1_Silent_p.S106S	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	2073										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GATTAGCAAAGGATGATCCTA	0.368000														57			37		0	0	0.007835	0	0
PYGO1	26108	broad.mit.edu	37	15	55838819	55838819	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:55838819G>A	uc002adf.1	-	2	662	c.662C>T	c.(661-663)tCt>tTt	p.S221F	PYGO1_uc010bfl.1_Missense_Mutation_p.S221F	NM_015617	NP_056432	Q9Y3Y4	PYGO1_HUMAN	Homo sapiens pygopus homolog 1 (Drosophila) (PYGO1), mRNA.	221	Asn-rich.				Wnt receptor signaling pathway	nucleus	zinc ion binding			endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		AGGAATAAAAGAATGATTAGA	0.383000														29			12		0	0	0.001855	0	0
OR8D2	283160	broad.mit.edu	37	11	124189815	124189815	+	Silent	SNP	G	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:124189815G>T	uc010sah.2	-	0	279	c.279C>A	c.(277-279)tcC>tcA	p.S93S		NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 2 (OR8D2), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		ATTCCAGAAAGGAGATAATGT	0.378000														8			5		2.7689e-08	3.83825e-08	0.001984	1	0
GPRC6A	222545	broad.mit.edu	37	6	117127571	117127571	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:117127571G>A	uc003pxj.1	-	2	1319	c.1297C>T	c.(1297-1299)Cgt>Tgt	p.R433C	GPRC6A_uc003pxk.1_Intron|GPRC6A_uc003pxl.1_Missense_Mutation_p.R433C	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	433					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TGACAGTCACGAGCTTGACAC	0.468000														5			5		0	0	0.001168	0	0
CYP3A4	1576	broad.mit.edu	37	7	99367481	99367481	+	Splice_Site	SNP	T	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:99367481T>G	uc003urv.2	-	6	540	c.433_splice	c.e6-1	p.M145_splice	CYP3A4_uc003urw.2_Splice_Site_p.M145_splice|CYP3A4_uc011kiz.2_Intron	NM_017460	NP_059488	P08684	CP3A4_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 4 (CYP3A4), transcript variant 1, mRNA.	145					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	AGGGACCATCTAAGCACAAAA	0.458000														31			32		0	0	0.005524	0	0
PTPN21	11099	broad.mit.edu	37	14	88945379	88945379	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:88945379G>A	uc001xwv.4	-	12	2727	c.2396C>T	c.(2395-2397)tCc>tTc	p.S799F	PTPN21_uc010twc.2_Missense_Mutation_p.S595F	NM_007039	NP_008970	Q16825	PTN21_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 21 (PTPN21), mRNA.	799						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GGTGAGGTCGGACTCCGACAT	0.647000														43			39		0	0	0.006230	0	0
PGC	5225	broad.mit.edu	37	6	41712480	41712480	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:41712480G>A	uc003ora.2	-	1	193	c.126C>T	c.(124-126)ttC>ttT	p.F42F	PGC_uc021yzm.1_Silent_p.F42F	NM_002630	NP_002621	P20142	PEPC_HUMAN	Homo sapiens progastricsin (pepsinogen C) (PGC), transcript variant 1, mRNA.	42					digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			GGGTCCTCAGGAACTCCCCCA	0.532000														15			16		0	0	0.001216	0	0
SPAM1	6677	broad.mit.edu	37	7	123594482	123594482	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:123594482C>T	uc003vle.3	+	2	1297	c.858C>T	c.(856-858)atC>atT	p.I286I	SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vld.3_Silent_p.I286I|SPAM1_uc022aks.1_Silent_p.I286I|SPAM1_uc003vlf.4_Silent_p.I286I|SPAM1_uc010lku.3_Silent_p.I286I	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	286					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	GGGAAGCCATCAGAGTTTCCA	0.413000														9			4		0	0	0.000248	0	0
TIE1	7075	broad.mit.edu	37	1	43772943	43772943	+	Splice_Site	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:43772943G>A	uc001ciu.3	+	5	949	c.772_splice	c.e5+1	p.A258_splice	TIE1_uc010okd.2_Splice_Site_p.A258_splice|TIE1_uc010oke.2_Splice_Site_p.A213_splice|TIE1_uc009vwq.3_Intron|TIE1_uc010okf.1_Splice_Site|TIE1_uc010okg.2_Splice_Site|TIE1_uc010okc.2_Splice_Site_p.A258_splice	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	258	EGF-like 2.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCTGTGAACAGGGTAAGGAGG	0.607000														14			32		0	0	0.003755	0	0
CDON	50937	broad.mit.edu	37	11	125867233	125867234	+	Nonsense_Mutation	DNP	CG	TA	TA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:125867233_125867234CG>TA	uc009zbw.3	-	11	2358_2359	c.2230_2231CG>TA	c.(2230-2232)cgg>TAg	p.R744*	CDON_uc001qdb.4_Nonsense_Mutation_p.R121*|CDON_uc001qdc.4_Nonsense_Mutation_p.R744*	NM_001243597	NP_001230526	Q4KMG0	CDON_HUMAN	Homo sapiens Cdon homolog (mouse) (CDON), transcript variant 1, mRNA.	744	Fibronectin type-III 2.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		CCCGTTTGCCCGAGGAATCCAA	0.490000														8			6		0	0	0.004672	0	0
HAP1	9001	broad.mit.edu	37	17	39884019	39884019	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:39884019C>T	uc002hxm.1	-	7	1282	c.1270G>A	c.(1270-1272)Gaa>Aaa	p.E424K	JUP_uc010wfs.2_Intron|HAP1_uc002hxn.1_Missense_Mutation_p.E424K|HAP1_uc002hxo.1_Intron|HAP1_uc002hxp.1_Intron	NM_177977	NP_817084	P54257	HAP1_HUMAN	Homo sapiens huntingtin-associated protein 1 (HAP1), transcript variant 2, mRNA.	424	Glu-rich.|HAP1 N-terminal.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CTCACCTCTTCCTGGAGCTGC	0.607000														9			13		0	0	0.003163	0	0
TPTE2	93492	broad.mit.edu	37	13	20024297	20024297	+	Missense_Mutation	SNP	C	T	T	rs143930436		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:20024297C>T	uc001umd.3	-	13	1103	c.892G>A	c.(892-894)Gtg>Atg	p.V298M	TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Missense_Mutation_p.V187M|TPTE2_uc001ume.3_Missense_Mutation_p.V221M|TPTE2_uc009zzm.3_Intron|TPTE2_uc010tcm.2_Non-coding_Transcript	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	298	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		GTGAAAACCACCATCTCACTG	0.323000														16			13		0	0	0.002299	0	0
TTN	7273	broad.mit.edu	37	2	179413756	179413756	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:179413756C>T	uc021vsy.1	-	287	85118	c.84893G>A	c.(84892-84894)gGa>gAa	p.G28298E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G21993E|TTN_uc021vta.1_Missense_Mutation_p.G21926E|TTN_uc021vtb.1_Missense_Mutation_p.G21801E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	29225	Fibronectin type-III 106.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGCCAGTCTCCTAAGTCGGC	0.408000														19			8		0	0	0.003080	0	0
SATB2	23314	broad.mit.edu	37	2	200137354	200137354	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:200137354G>A	uc002uuy.2	-	10	2599	c.1782C>T	c.(1780-1782)tcC>tcT	p.S594S	SATB2_uc010fsq.2_Silent_p.S476S|SATB2_uc002uva.2_Silent_p.S594S|SATB2_uc002uuz.2_Silent_p.S594S	NM_001172509	NP_056080	Q9UPW6	SATB2_HUMAN	Homo sapiens SATB homeobox 2 (SATB2), transcript variant 1, mRNA.	594						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTCTGGGAGGGGAACTCTCCT	0.498000														38			54		0	0	0.003610	0	0
GALNS	2588	broad.mit.edu	37	16	88889034	88889034	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:88889034G>A	uc010cid.3	-	12	1586	c.1345C>T	c.(1345-1347)Cac>Tac	p.H449Y	GALNS_uc002fly.4_Missense_Mutation_p.H443Y|GALNS_uc002flz.4_Missense_Mutation_p.H126Y			P34059	GALNS_HUMAN	Homo sapiens galactosamine (N-acetyl)-6-sulfate sulfatase (GALNS), mRNA.	443						lysosome	N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity|metal ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)	Hyaluronidase(DB00070)	CGTCCCAGGTGGAAGATCAGG	0.612000														1			15		0	0	0.004007	0	0
AMPD1	270	broad.mit.edu	37	1	115220120	115220120	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:115220120G>A	uc001efe.2	-	9	1387	c.1339C>T	c.(1339-1341)Ctg>Ttg	p.L447L	AMPD1_uc001eff.2_Silent_p.L443L	NM_000036	NP_000027	P23109	AMPD1_HUMAN	Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	414					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	GCCTCCACCAGGTCCGCACCT	0.567000														26			4		0	0	0.000248	0	0
DMRT3	58524	broad.mit.edu	37	9	990186	990187	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:990186_990187GG>AA	uc003zgw.1	+	1	638_639	c.600_601GG>AA	c.(598-603)gtggag>gtAAag	p.E201K		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	Homo sapiens doublesex and mab-3 related transcription factor 3 (DMRT3), mRNA.	201					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		TAGTGTCCGTGGAGGAAGGGGG	0.579000														27			5		0	0	0.004672	0	0
CTAGE1	64693	broad.mit.edu	37	18	19996265	19996265	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:19996265G>A	uc002ktv.1	-	0	1614	c.1510C>T	c.(1510-1512)Ctc>Ttc	p.L504F		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.	504						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					GGAGGATAGAGAGAAGCTCTC	0.522000														64			35		0	0	0.005524	0	0
FAM83G	644815	broad.mit.edu	37	17	18880953	18880953	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:18880953C>T	uc002guw.3	-	4	2193	c.2026G>A	c.(2026-2028)Gaa>Aaa	p.E676K	SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN	Homo sapiens family with sequence similarity 83, member G (FAM83G), mRNA.	676										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						GCATCTGCTTCTTCTCTTCCC	0.652000														22			5		0	0	0.001168	0	0
LRP1B	53353	broad.mit.edu	37	2	141660713	141660714	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:141660713_141660714CC>TT	uc002tvj.1	-	22	4513_4514	c.3541_3542GG>AA	c.(3541-3543)gga>AAa	p.G1181K	LRP1B_uc010fnl.1_Missense_Mutation_p.G363K	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1181					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.G1181R(2)		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)		GCTACAGCCTCCATTGTTCAGC	0.386000										TSP Lung(27;0.18)				8			4		0	0	0.004672	0	0
ADH5	128	broad.mit.edu	37	4	99997979	99997979	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:99997979G>A	uc003hui.3	-	4	520	c.440C>T	c.(439-441)tCt>tTt	p.S147F	ADH5_uc003huk.1_Missense_Mutation_p.S147F	NM_000671	NP_000662	P11766	ADHX_HUMAN	Homo sapiens alcohol dehydrogenase 5 (class III), chi polypeptide (ADH5), mRNA.	147					ethanol oxidation|response to redox state		S-(hydroxymethyl)glutathione dehydrogenase activity|alcohol dehydrogenase (NAD) activity|electron carrier activity|fatty acid binding|formaldehyde dehydrogenase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)	NADH(DB00157)	TGTGTATTCAGAAAATGTGCT	0.398000														35			18		0	0	0.007413	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161029453	161029454	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:161029453_161029454CC>TT	uc001fxl.3	-	1	496_497	c.150_151GG>AA	c.(148-153)gtggat>gtAAat	p.D51N	ARHGAP30_uc001fxk.3_Missense_Mutation_p.D51N|ARHGAP30_uc001fxm.3_5'UTR|ARHGAP30_uc009wtx.3_5'UTR|ARHGAP30_uc001fxn.1_5'UTR	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.	51	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TAGATCCCATCCACCACTCCAT	0.574000														73			13		0	0	0.004672	0	0
TRAPPC8	22878	broad.mit.edu	37	18	29435648	29435648	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:29435648A>T	uc002kxc.4	-	20	3675	c.3311T>A	c.(3310-3312)tTt>tAt	p.F1104Y	TRAPPC8_uc002kxb.4_Missense_Mutation_p.F1050Y|TRAPPC8_uc002kxd.4_Non-coding_Transcript	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN	Homo sapiens trafficking protein particle complex 8 (TRAPPC8), mRNA.	1104					ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CACATCCACAAAGACTAGCAT	0.353000														33			10		0	0	0.000673	0	0
NPFFR2	10886	broad.mit.edu	37	4	73012965	73012965	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:73012965C>T	uc003hgg.2	+	3	1103	c.1005C>T	c.(1003-1005)tcC>tcT	p.S335S	NPFFR2_uc010iig.2_Silent_p.S117S|NPFFR2_uc003hgi.2_Silent_p.S236S|NPFFR2_uc003hgh.2_Silent_p.S233S	NM_004885	NP_444264	Q9Y5X5	NPFF2_HUMAN	Homo sapiens neuropeptide FF receptor 2 (NPFFR2), transcript variant 1, mRNA.	335					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			CTCCCCTCTCCCTCATTGTCA	0.527000														12			21		0	0	0.001882	0	0
CTLA4	1493	broad.mit.edu	37	2	204735472	204735472	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:204735472G>A	uc002vak.2	+	1	428	c.273G>A	c.(271-273)atG>atA	p.M91I	CTLA4_uc002val.2_Missense_Mutation_p.M91I|CTLA4_uc010fty.2_Intron|CTLA4_uc010ftz.2_Intron	NM_005214	NP_005205	P16410	CTLA4_HUMAN	Homo sapiens cytotoxic T-lymphocyte-associated protein 4 (CTLA4), transcript variant 1, mRNA.	91	Ig-like V-type.				B cell receptor signaling pathway|T cell costimulation|immune response|negative regulation of B cell proliferation|negative regulation of regulatory T cell differentiation|positive regulation of apoptosis|response to DNA damage stimulus	Golgi apparatus|clathrin-coated endocytic vesicle|external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm				large_intestine(4)|lung(4)|skin(1)	9					Abatacept(DB01281)	CCTACATGATGGGGAATGAGT	0.552000														64			20		0	0	0.001882	0	0
SORL1	6653	broad.mit.edu	37	11	121456993	121456993	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:121456993G>A	uc001pxx.3	+	26	3898	c.3769G>A	c.(3769-3771)Gat>Aat	p.D1257N	SORL1_uc010rzp.1_Missense_Mutation_p.D103N	NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	1257	LDL-receptor class A 5.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CAAACATTGTGATGGTCTGCG	0.493000														89			91		0	0	0.003610	0	0
GPS2	2874	broad.mit.edu	37	17	7226169	7226169	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:7226169G>A	uc002gga.1	-	15	2617	c.2610C>T	c.(2608-2610)gtC>gtT	p.V870V	GPS2_uc002ggb.1_Silent_p.V868V|GPS2_uc002ggc.1_Silent_p.V216V	NM_032442	NP_115818	Q13227	GPS2_HUMAN	Homo sapiens neuralized homolog 4 (Drosophila) (NEURL4), transcript variant 1, mRNA.	0					JNK cascade|cell cycle|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				CATAGAGATCGACTACCGCAT	0.592000														78			27		0	0	0.001512	0	0
SRGAP1	57522	broad.mit.edu	37	12	64521666	64521666	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:64521666C>T	uc010ssp.1	+	20	2622	c.2566C>T	c.(2566-2568)Cct>Tct	p.P856S	SRGAP1_uc001srv.2_Missense_Mutation_p.P793S	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 1 (SRGAP1), mRNA.	856	Poly-Pro.				axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		AGAGCCACCCCCTCCAGTAAG	0.557000														39			9		0	0	0.006214	0	0
SPRED1	161742	broad.mit.edu	37	15	38641715	38641716	+	Nonsense_Mutation	DNP	CC	TT	TT	rs144764225	byFrequency	TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:38641715_38641716CC>TT	uc001zka.4	+	5	1010_1011	c.675_676CC>TT	c.(673-678)tcccaa>tcTTaa	p.Q226*		NM_152594	NP_689807	Q7Z699	SPRE1_HUMAN	Homo sapiens sprouty-related, EVH1 domain containing 1 (SPRED1), mRNA.	226					inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GCCTAAAGTCCCAAAATAGGGT	0.347000									Legius syndrome					2			6		0	0	0.004672	0	0
CPM	1368	broad.mit.edu	37	12	69250406	69250406	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:69250406T>A	uc001sup.3	-	8	1204	c.1143A>T	c.(1141-1143)aaA>aaT	p.K381N	CPM_uc001sur.3_Missense_Mutation_p.K381N|CPM_uc001suq.3_Missense_Mutation_p.K381N	NM_198320	NP_938079	P14384	CBPM_HUMAN	Homo sapiens carboxypeptidase M (CPM), transcript variant 2, mRNA.	381					anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			AGTTCTGGGATTTCTCCGGAA	0.408000														9			23		0	0	0.002780	0	0
LAMA5	3911	broad.mit.edu	37	20	60901952	60901953	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:60901952_60901953GG>AA	uc002ycq.3	-	38	5249_5250	c.5182_5183CC>TT	c.(5182-5184)ccc>TTc	p.P1728F	LAMA5_uc021wfw.1_Missense_Mutation_p.P1728F	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	1728	Laminin IV type A.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCTCTCCATGGGGACAAAGACA	0.634000														80			27		0	0	0.004672	0	0
PRRG1	5638	broad.mit.edu	37	X	37312578	37312578	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:37312578C>T	uc004ddn.3	+	4	614	c.361C>T	c.(361-363)Cct>Tct	p.P121S	PRRG1_uc004ddo.3_Missense_Mutation_p.P121S|PRRG1_uc022buu.1_Missense_Mutation_p.P121S|PRRG1_uc022buv.1_Missense_Mutation_p.P121S	NM_000950	NP_001166961	O14668	TMG1_HUMAN	Homo sapiens proline rich Gla (G-carboxyglutamic acid) 1 (PRRG1), transcript variant 1, mRNA.	121						extracellular region|integral to plasma membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						AGGCCACATTCCTTTCCCTCA	0.458000														3			46		0	0	0.003610	0	0
SCAF1	58506	broad.mit.edu	37	19	50154643	50154643	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:50154643C>T	uc002poq.3	+	6	1121	c.997C>T	c.(997-999)Cct>Tct	p.P333S		NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	Homo sapiens SR-related CTD-associated factor 1 (SCAF1), mRNA.	333					RNA splicing|mRNA processing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GACTCCCGCCCCTGGAACGCC	0.701000														13			14		0	0	0.004007	0	0
ANK3	288	broad.mit.edu	37	10	61833799	61833799	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:61833799A>C	uc001jky.3	-	36	7178	c.6840T>G	c.(6838-6840)ttT>ttG	p.F2280L	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	2280					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GCCCGGACTGAAAGGCCTTCA	0.498000														44			28		0	0	0.004289	0	0
SLC18A2	6571	broad.mit.edu	37	10	119012938	119012938	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:119012938G>A	uc001ldd.2	+	3	656	c.493G>A	c.(493-495)Gga>Aga	p.G165R	SLC18A2_uc009xyy.2_5'UTR	NM_003054	NP_003045	Q05940	VMAT2_HUMAN	Homo sapiens solute carrier family 18 (vesicular monoamine), member 2 (SLC18A2), mRNA.	165					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity	p.A164A(2)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	CATATTTGCGGGATTCTGCAT	0.428000														85			71		0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9058194	9058194	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:9058194G>A	uc002mkp.3	-	2	29456	c.29252C>T	c.(29251-29253)cCc>cTc	p.P9751L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9753	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						AGGAGAGGAGGGGCTACTGTC	0.483000														6			11		0	0	0.001368	0	0
FLG	2312	broad.mit.edu	37	1	152282785	152282785	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:152282785C>T	uc001ezu.1	-	2	4613	c.4577G>A	c.(4576-4578)gGa>gAa	p.G1526E		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1526	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCAGACCTTCCCTGGGGTGT	0.572000									Ichthyosis					225			72		0	0	0.003610	0	0
PPP1R36	145376	broad.mit.edu	37	14	65032075	65032075	+	Splice_Site	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:65032075G>A	uc001xhl.1	+	5	366	c.270_splice	c.e5-1	p.R90_splice		NM_172365	NP_758953	Q96LQ0	CN050_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 36 (PPP1R36), mRNA.	90																	TCCAAAACAGGTTGACAGATA	0.333000														1			7		0	0	0.004482	0	0
CNTN5	53942	broad.mit.edu	37	11	99786792	99786792	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:99786792G>A	uc001pga.3	+	6	1088	c.584G>A	c.(583-585)gGa>gAa	p.G195E	CNTN5_uc009ywv.2_Missense_Mutation_p.G195E|CNTN5_uc001pfz.3_Missense_Mutation_p.G195E|CNTN5_uc021qpb.1_Missense_Mutation_p.G195E|CNTN5_uc021qpc.1_Missense_Mutation_p.G121E	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	195					cell adhesion	anchored to membrane|plasma membrane	protein binding	p.G195E(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ACAGATCTGGGAAATTTTAGT	0.423000														3			5		0	0	0.001984	0	0
RPTN	126638	broad.mit.edu	37	1	152128196	152128196	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:152128196C>T	uc001ezs.1	-	2	1444	c.1379G>A	c.(1378-1380)aGt>aAt	p.S460N		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	460	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ATAGTGGGAACTCTGGCCTTG	0.512000														371			97		0	0	0.003610	0	0
RAB11FIP3	9727	broad.mit.edu	37	16	570473	570473	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:570473G>A	uc002chf.3	+	12	2370	c.2031G>A	c.(2029-2031)ctG>ctA	p.L677L	RAB11FIP3_uc010uuf.2_Silent_p.L381L|RAB11FIP3_uc010uug.2_Silent_p.L412L	NM_014700	NP_055515	O75154	RFIP3_HUMAN	Homo sapiens RAB11 family interacting protein 3 (class II) (RAB11FIP3), transcript variant 1, mRNA.	677					cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|Rab GTPase binding|calcium ion binding|protein homodimerization activity			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				ACCGCAACCTGAAGGAGCAGA	0.607000														40			30		0	0	0.002836	0	0
SOGA3	387104	broad.mit.edu	37	6	127796827	127796827	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:127796827C>T	uc003qbd.3	-	5	3209	c.2344G>A	c.(2344-2346)Gac>Aac	p.D782N	KIAA0408_uc003qbc.3_5'UTR	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	Homo sapiens chromosome 6 open reading frame 174 (C6orf174), mRNA.	782						integral to membrane											TCCTCCGAGTCGCTCTCGCCG	0.711000														31			27		0	0	0.004656	0	0
C3orf67	200844	broad.mit.edu	37	3	58870414	58870414	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:58870414G>A	uc003dkt.1	-	6	606	c.197C>T	c.(196-198)tCa>tTa	p.S66L	AK090895_uc003dku.1_Intron|C3orf67_uc003dkv.1_5'UTR|C3orf67_uc003dkw.3_5'UTR	NM_198463	NP_940865	Q6ZVT6	CC067_HUMAN	Homo sapiens chromosome 3 open reading frame 67 (C3orf67), mRNA.	66										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		CTCATCTGTTGAAAAGGGAAC	0.368000														27			14		0	0	0.003163	0	0
OR5J2	282775	broad.mit.edu	37	11	55944940	55944940	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:55944940C>T	uc010rjb.2	+	0	847	c.847C>T	c.(847-849)Ccc>Tcc	p.P283S		NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily J, member 2 (OR5J2), mRNA.	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					GCTAGGGATTCCCATGTTAAA	0.383000														10			19		0	0	0.007413	0	0
CEP89	84902	broad.mit.edu	37	19	33414371	33414371	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:33414371C>T	uc002nty.3	-	11	1331	c.1242G>A	c.(1240-1242)aaG>aaA	p.K414K	CEP89_uc002ntx.3_Silent_p.K167K|CEP89_uc010edg.3_Intron	NM_032816	NP_116205	Q96ST8	CEP89_HUMAN	Homo sapiens centrosomal protein 89kDa (CEP89), mRNA.	414						centrosome|spindle pole				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						CAGCACTACTCTTATTTAACT	0.333000														71			44		0	0	0.003610	0	0
NEURL2	140825	broad.mit.edu	37	20	44519216	44519216	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:44519216G>A	uc002xqg.1	-	0	686	c.415C>T	c.(415-417)Cca>Tca	p.P139S	SPATA25_uc002xqf.3_5'Flank|CTSA_uc002xqh.3_5'Flank|CTSA_uc002xqj.4_5'Flank|CTSA_uc010zxi.2_5'Flank|CTSA_uc002xqi.3_5'Flank	NM_080749	NP_542787	Q9BR09	NEUL2_HUMAN	Homo sapiens neuralized homolog 2 (Drosophila) (NEURL2), mRNA.	139	NHR.				intracellular signal transduction					large_intestine(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				AGGAGGGTTGGAGGTCGGCTG	0.697000														18			31		0	0	0.001786	0	0
PTPRO	5800	broad.mit.edu	37	12	15704582	15704582	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:15704582G>A	uc001rcv.2	+	14	3005	c.2535G>A	c.(2533-2535)agG>agA	p.R845R	PTPRO_uc001rcw.2_Silent_p.R845R|PTPRO_uc001rcx.2_Silent_p.R34R|PTPRO_uc001rcy.2_Silent_p.R34R|PTPRO_uc001rcz.2_Silent_p.R34R|PTPRO_uc001rda.2_Silent_p.R34R	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA.	845						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TTATTCTTAGGAAAAAGCATC	0.353000														21			11		0	0	0.001368	0	0
COL6A2	1292	broad.mit.edu	37	21	47545922	47545922	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr21:47545922G>A	uc002zia.1	+	25	2275	c.2193G>A	c.(2191-2193)acG>acA	p.T731T	COL6A2_uc002zhz.1_Silent_p.T731T|COL6A2_uc002zhy.1_Silent_p.T731T|COL6A2_uc010gqe.2_5'Flank	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	731	Nonhelical region.|VWFA 2.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		TGGTCATCACGGACGGGCGCC	0.657000														21			26		0	0	0.005443	0	0
ODZ3	55714	broad.mit.edu	37	4	183696110	183696110	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:183696110C>T	uc003ivd.1	+	22	5183	c.5108C>T	c.(5107-5109)tCc>tTc	p.S1703F		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1703					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		TATGACGGCTCCCTCAGAATT	0.458000														25			16		0	0	0.004990	0	0
PROCR	10544	broad.mit.edu	37	20	33760002	33760002	+	Silent	SNP	C	T	T	rs6142309		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:33760002C>T	uc002xbt.3	+	0	229	c.45C>T	c.(43-45)gcC>gcT	p.A15A	EDEM2_uc010zuv.1_Intron	NM_006404	NP_006395	Q9UNN8	EPCR_HUMAN	Homo sapiens protein C receptor, endothelial (PROCR), mRNA.	15					antigen processing and presentation|blood coagulation|immune response	MHC class I protein complex|integral to plasma membrane	receptor activity			breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	CTGGCTGGGCCTTTTGTAGCC	0.597000														43			29		0	0	0.006999	0	0
ACIN1	22985	broad.mit.edu	37	14	23551020	23551020	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:23551020C>T	uc001wit.4	-	4	964	c.636G>A	c.(634-636)gaG>gaA	p.E212E	ACIN1_uc001wis.4_5'Flank|ACIN1_uc010akg.3_Silent_p.E212E|ACIN1_uc010tnj.2_Silent_p.E172E	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	Homo sapiens apoptotic chromatin condensation inducer 1 (ACIN1), transcript variant 1, mRNA.	212	Glu-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		AGTCACCTTTCTCTTCAGAAA	0.383000														39			39		0	0	0.002852	0	0
ZDBF2	57683	broad.mit.edu	37	2	207170001	207170001	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:207170001C>T	uc002vbp.2	+	4	999	c.749C>T	c.(748-750)tCg>tTg	p.S250L		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	250							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ACTTCATTTTCGTATCAGAAA	0.358000														17			5		0	0	0.001168	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702556	27702556	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:27702556G>A	uc001itu.2	-	0	742	c.624C>T	c.(622-624)ttC>ttT	p.F208F		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	208					spermatid development	integral to membrane	hedgehog receptor activity	p.F208F(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GAAGCGAGACGAAATTGGCTT	0.632000														30			32		0	0	0.002096	0	0
UTP14C	9724	broad.mit.edu	37	13	52604717	52604717	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:52604717A>T	uc001vgb.3	+	1	2339	c.1777A>T	c.(1777-1779)Atg>Ttg	p.M593L	UTP14C_uc001vga.3_3'UTR|UTP14C_uc001vgc.3_Non-coding_Transcript|UTP14C_uc021rjw.1_Missense_Mutation_p.M593L	NM_021645	NP_067677	Q5TAP6	UT14C_HUMAN	Homo sapiens UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) (UTP14C), mRNA.	593					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		CCAAAGGCAGATGATAAAGGA	0.488000														23			22		0	0	0.003330	0	0
TMEM35	59353	broad.mit.edu	37	X	100349736	100349736	+	Silent	SNP	T	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:100349736T>C	uc004egw.3	+	1	451	c.295T>C	c.(295-297)Ttg>Ctg	p.L99L		NM_021637	NP_067650	Q53FP2	TMM35_HUMAN	Homo sapiens transmembrane protein 35 (TMEM35), mRNA.	99						cytoplasmic membrane-bounded vesicle|integral to membrane|peroxisomal membrane				NS(1)|large_intestine(3)|liver(1)|skin(1)|urinary_tract(1)	7						GTTGCTGGTGTTGGCTGTGCT	0.552000														0			54		0	0	0.003610	0	0
SLC9A4	389015	broad.mit.edu	37	2	103095719	103095719	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:103095719G>A	uc002tbz.4	+	1	1135	c.678G>A	c.(676-678)atG>atA	p.M226I		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	226					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						AGCTCTACATGATGATCTTTG	0.617000														10			10		0	0	0.001368	0	0
ALG3	10195	broad.mit.edu	37	3	183963094	183963094	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:183963094G>A	uc003fne.2	-	3	528	c.497C>T	c.(496-498)tCc>tTc	p.S166F	ALG3_uc011brc.1_Missense_Mutation_p.S131F|ALG3_uc011brd.1_Missense_Mutation_p.S110F|ALG3_uc011bre.1_Missense_Mutation_p.S118F|ALG3_uc011brf.1_Missense_Mutation_p.S58F	NM_005787	NP_005778	Q92685	ALG3_HUMAN	Homo sapiens asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae) (ALG3), transcript variant 1, mRNA.	166					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CACAAAGATGGAGTGGACACG	0.557000														12			5		0	0	0.000602	0	0
MTTP	4547	broad.mit.edu	37	4	100534068	100534068	+	Splice_Site	SNP	A	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:100534068A>C	uc011cej.2	+	15	2084	c.2071_splice	c.e15-2	p.V691_splice	MTTP_uc003hvc.4_Splice_Site_p.V664_splice	NM_000253	NP_000244	P55157	MTP_HUMAN	Homo sapiens microsomal triglyceride transfer protein (MTTP), mRNA.	664					lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	GATTTTATCCAGGTGGTTATT	0.498000														50			41		0	0	0.001951	0	0
TTN	7273	broad.mit.edu	37	2	179417475	179417475	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:179417475C>T	uc021vsy.1	-	283	82673	c.82448G>A	c.(82447-82449)tGg>tAg	p.W27483*	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Nonsense_Mutation_p.W21178*|TTN_uc021vta.1_Nonsense_Mutation_p.W21111*|TTN_uc021vtb.1_Nonsense_Mutation_p.W20986*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	28410							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGTTTGGTCCAGCTGAGGAT	0.468000														24			4		0	0	0.001168	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140236607	140236607	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:140236607G>A	uc003lhx.2	+	0	974	c.974G>A	c.(973-975)gGa>gAa	p.G325E	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Missense_Mutation_p.G325E|PCDHAC2_uc011dad.2_Missense_Mutation_p.G325E	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	341	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGATAAGGGAAACCCACCT	0.403000														1			41		0	0	0.003610	0	0
CD33	945	broad.mit.edu	37	19	51728498	51728498	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:51728498T>A	uc002pwa.2	+	1	102	c.62T>A	c.(61-63)tTc>tAc	p.F21Y	CD33_uc010eos.1_Missense_Mutation_p.F21Y|CD33_uc010eot.1_Intron|CD33_uc010eou.1_5'Flank	NM_001772	NP_001763	P20138	CD33_HUMAN	Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	21	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	GATCCAAATTTCTGGCTGCAA	0.602000														30			21		0	0	0.002299	0	0
SLC6A19	340024	broad.mit.edu	37	5	1214126	1214126	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:1214126C>T	uc003jbw.4	+	5	889	c.833C>T	c.(832-834)tCc>tTc	p.S278F		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.	278					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GTCTTCTTCTCCTTCTCCCTG	0.642000														48			50		0	0	0.003610	0	0
PGK2	5232	broad.mit.edu	37	6	49754544	49754544	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:49754544C>T	uc003ozu.3	-	0	510	c.357G>A	c.(355-357)ctG>ctA	p.L119L		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	119					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					GCAGGTTCTCCAGCAGGATGA	0.512000														22			22		0	0	0.003330	0	0
ACTL9	284382	broad.mit.edu	37	19	8808176	8808176	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:8808176C>T	uc002mkl.2	-	0	997	c.876G>A	c.(874-876)aaG>aaA	p.K292K		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	Homo sapiens actin-like 9 (ACTL9), mRNA.	292						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						GGAACAGCTCCTTGCCCAGGG	0.662000														24			26		0	0	0.005443	0	0
ACAN	176	broad.mit.edu	37	15	89400227	89400227	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:89400227C>T	uc010upo.1	+	11	4785	c.4411C>T	c.(4411-4413)Cct>Tct	p.P1471S	ACAN_uc010upp.1_Missense_Mutation_p.P1471S|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	1471					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CAGTGGACTTCCTTCTGGAGG	0.512000														3			81		0	0	0.003610	0	0
FAM161A	84140	broad.mit.edu	37	2	62067598	62067598	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:62067598G>A	uc002sbm.4	-	2	643	c.541C>T	c.(541-543)Cta>Tta	p.L181L	FAM161A_uc002sbn.4_5'UTR|FAM161A_uc010ypo.2_Silent_p.L181L|FAM161A_uc010fcm.1_Non-coding_Transcript|FAM161A_uc010fcn.1_Silent_p.L72L	NM_001201543	NP_001188472	Q3B820	F161A_HUMAN	Homo sapiens family with sequence similarity 161, member A (FAM161A), transcript variant 1, mRNA.	181					response to stimulus|visual perception	centrosome				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TCTTTTTCTAGGTTGGGTAAC	0.418000														51			43		0	0	0.002852	0	0
SETBP1	26040	broad.mit.edu	37	18	42530104	42530104	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:42530104A>G	uc010dni.3	+	3	1095	c.799A>G	c.(799-801)Aaa>Gaa	p.K267E		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	267						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CCAGGGTAAGAAAGGCAGTGC	0.542000									Schinzel-Giedion syndrome					37			17		0	0	0.001216	0	0
ABCD2	225	broad.mit.edu	37	12	40013110	40013110	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:40013110T>C	uc001rmb.2	-	0	734	c.308A>G	c.(307-309)gAa>gGa	p.E103G		NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 2 (ABCD2), mRNA.	103	Interaction with PEX19.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						CCACCCTGTTTCAGTGGTCAC	0.428000														29			15		0	0	0.003163	0	0
CMKLR1	1240	broad.mit.edu	37	12	108686708	108686708	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:108686708G>A	uc009zuw.3	-	2	223	c.32C>T	c.(31-33)tCc>tTc	p.S11F	CMKLR1_uc001tmw.3_Missense_Mutation_p.S11F|CMKLR1_uc001tmv.3_Missense_Mutation_p.S9F|CMKLR1_uc009zuv.3_Missense_Mutation_p.S11F|CMKLR1_uc021rdj.1_Missense_Mutation_p.S9F	NM_001142345	NP_004063	Q99788	CML1_HUMAN	Homo sapiens chemokine-like receptor 1 (CMKLR1), transcript variant 4, mRNA.	11					chemotaxis|immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-12 production|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						GTAACTGATGGAAGTGTTGTA	0.463000														15			7		0	0	0.003080	0	0
SLC22A2	6582	broad.mit.edu	37	6	160679486	160679486	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:160679486C>T	uc003qtf.3	-	0	478	c.304G>A	c.(304-306)Gac>Aac	p.D102N	SLC22A2_uc003qth.2_Missense_Mutation_p.D102N	NM_003058	NP_003049	O15244	S22A2_HUMAN	Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA.	102					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		TCCACGCAGTCGAAGGTGCTC	0.672000														44			34		0	0	0.002096	0	0
LYN	4067	broad.mit.edu	37	8	56879362	56879362	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:56879362C>T	uc003xsk.4	+	8	1161	c.879C>T	c.(877-879)ctC>ctT	p.L293L	LYN_uc003xsl.4_Silent_p.L272L	NM_002350	NP_002341	P07948	LYN_HUMAN	Homo sapiens v-yes-1 Yamaguchi sarcoma viral related oncogene homolog (LYN), transcript variant 1, mRNA.	293	Protein kinase.				T cell costimulation|erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus	Golgi apparatus|cytosol|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			AAGCCAACCTCATGAAGACCC	0.507000														26			16		0	0	0.004990	0	0
DZIP1L	199221	broad.mit.edu	37	3	137822681	137822681	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:137822681G>A	uc003erq.3	-	1	496	c.133C>T	c.(133-135)Cgc>Tgc	p.R45C	DZIP1L_uc003err.1_Missense_Mutation_p.R45C	NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	Homo sapiens DAZ interacting protein 1-like (DZIP1L), transcript variant 1, mRNA.	45						intracellular	zinc ion binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						CGGGCCACGCGGTCTACATCC	0.602000														65			94		0	0	0.003610	0	0
MBD5	55777	broad.mit.edu	37	2	149226998	149226998	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:149226998A>G	uc002twm.4	+	8	2483	c.1486A>G	c.(1486-1488)Aca>Gca	p.T496A	MBD5_uc010zbs.2_Non-coding_Transcript|MBD5_uc002twn.1_5'Flank	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	496						chromosome|nucleus	DNA binding|chromatin binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		ACCAAGGTCAACAATAGGGTC	0.473000														10			18		0	0	0.002299	0	0
PDP2	57546	broad.mit.edu	37	16	66918541	66918541	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:66918541C>T	uc021tjw.1	+	0	354	c.354C>T	c.(352-354)tcC>tcT	p.S118S	PDP2_uc002eqk.2_Silent_p.S118S	NM_020786	NP_065837	Q9P2J9	PDP2_HUMAN	Homo sapiens pyruvate dehyrogenase phosphatase catalytic subunit 2 (PDP2), mRNA.	118					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		CTGCCAATTCCCCAGTGGAGG	0.542000														2			34		0	0	0.002836	0	0
SCARA5	286133	broad.mit.edu	37	8	27779514	27779514	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:27779514C>T	uc003xgj.3	-	3	1101	c.490G>A	c.(490-492)Gag>Aag	p.E164K	SCARA5_uc010luz.3_Intron|SCARA5_uc003xgk.3_Missense_Mutation_p.E121K|SCARA5_uc003xgl.3_Missense_Mutation_p.E164K	NM_173833	NP_776194	Q6ZMJ2	SCAR5_HUMAN	Homo sapiens scavenger receptor class A, member 5 (putative) (SCARA5), mRNA.	164					cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		ACCGCCTGCTCGGTCTGCACC	0.716000														0			3		0	0	0.000248	0	0
CHST8	64377	broad.mit.edu	37	19	34180174	34180174	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:34180174C>T	uc002nus.4	+	2	512	c.7C>T	c.(7-9)Ctg>Ttg	p.L3L	CHST8_uc002nut.4_Silent_p.L3L|CHST8_uc002nuu.3_Silent_p.L3L	NM_001127895	NP_071912	Q9H2A9	CHST8_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 (CHST8), transcript variant 2, mRNA.	3					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					CCGGATGACCCTGCGACCTGG	0.632000														31			35		0	0	0.005524	0	0
SCN10A	6336	broad.mit.edu	37	3	38793895	38793895	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:38793895C>T	uc003ciq.3	-	10	1570	c.1570G>A	c.(1570-1572)Gga>Aga	p.G524R		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	524					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GGAAAGACTCCATCATCTGTG	0.612000														9			18		0	0	0.004990	0	0
OAS3	4940	broad.mit.edu	37	12	113385903	113385903	+	Splice_Site	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:113385903C>T	uc001tug.3	+	5	1116	c.1029_splice	c.e5+1	p.P343_splice		NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 3, 100kDa (OAS3), mRNA.	343	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|RNA binding|nucleotidyltransferase activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						TGGAAGGGGCCGGTAAGTGAG	0.567000														12			12		0	0	0.004007	0	0
OR1N2	138882	broad.mit.edu	37	9	125316093	125316093	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:125316093G>A	uc011lyx.2	+	0	645	c.645G>A	c.(643-645)atG>atA	p.M215I		NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 2 (OR1N2), mRNA.	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						ACGAGCTGATGATCATCACCA	0.507000														75			23		0	0	0.002780	0	0
ZNF845	91664	broad.mit.edu	37	19	53854397	53854397	+	Missense_Mutation	SNP	G	A	A	rs10415799	by1000genomes	TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:53854397G>A	uc010ydv.1	+	3	586	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K	ZNF845_uc010ydw.1_Missense_Mutation_p.E157K	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E157Q(6)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GTTTCAGACCGAAGGGAAAAT	0.408000														48			41		0	0	0.003610	0	0
CIT	11113	broad.mit.edu	37	12	120220404	120220404	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:120220404A>C	uc001txj.2	-	12	1639	c.1583T>G	c.(1582-1584)gTg>gGg	p.V528G	CIT_uc001txh.2_Missense_Mutation_p.V62G|CIT_uc001txi.2_Missense_Mutation_p.V528G	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	528					intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CTCCTGGGACACCTCCATCCG	0.488000														42			13		0	0	0.001855	0	0
LPPR1	54886	broad.mit.edu	37	9	104048505	104048505	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:104048505C>T	uc004bbb.3	+	3	771	c.372C>T	c.(370-372)atC>atT	p.I124I	LPPR1_uc011lvi.2_Silent_p.I100I|LPPR1_uc004bbc.3_Silent_p.I124I|LPPR1_uc010mtc.3_Silent_p.I108I	NM_207299	NP_997182	Q8TBJ4	LPPR1_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 1 (LPPR1), transcript variant 1, mRNA.	124						integral to membrane	catalytic activity										TTCGAAGGATCATAAGATTCA	0.373000														14			6		0	0	0.001984	0	0
DRD3	1814	broad.mit.edu	37	3	113878668	113878668	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:113878668A>C	uc003ebd.2	-	3	740	c.317T>G	c.(316-318)tTt>tGt	p.F106C	DRD3_uc010hqn.1_Missense_Mutation_p.F106C|DRD3_uc003ebb.1_Missense_Mutation_p.F106C|DRD3_uc003ebc.1_Missense_Mutation_p.F106C	NM_000796	NP_000787	P35462	DRD3_HUMAN	Homo sapiens dopamine receptor D3 (DRD3), transcript variant a, mRNA.	106					G-protein coupled receptor internalization|activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	CAGGGTGACAAAAACATCACA	0.498000														20			37		0	0	0.003610	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33881402	33881402	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:33881402A>T	uc003jia.1	-	1	474	c.311T>A	c.(310-312)tTt>tAt	p.F104Y	ADAMTS12_uc010iuq.1_Missense_Mutation_p.F104Y|ADAMTS12_uc003jib.1_Missense_Mutation_p.F104Y	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	104					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CGTCAAGTTAAAAAACAGGTC	0.468000										HNSCC(64;0.19)				47			47		0	0	0.003610	0	0
KRT26	353288	broad.mit.edu	37	17	38926344	38926344	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:38926344C>T	uc002hvf.3	-	3	758	c.712G>A	c.(712-714)Ggg>Agg	p.G238R		NM_181539	NP_853517	Q7Z3Y9	K1C26_HUMAN	Homo sapiens keratin 26 (KRT26), mRNA.	238	Linker 12.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				TTCACGTTCCCCCCAGCTGTA	0.483000														37			32		0	0	0.004878	0	0
SLC30A8	169026	broad.mit.edu	37	8	118147606	118147606	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:118147606G>A	uc003yoh.3	+	0	270	c.40G>A	c.(40-42)Gct>Act	p.A14T	SLC30A8_uc010mcz.3_Intron|SLC30A8_uc003yog.3_5'UTR|SLC30A8_uc011lia.2_5'UTR|SLC30A8_uc022bab.1_5'UTR	NM_173851	NP_001166286	Q8IWU4	ZNT8_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 8 (SLC30A8), transcript variant 1, mRNA.	14					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			GAATGATAAAGCTGCCAAGAT	0.418000														52			24		0	0	0.006320	0	0
OR1B1	347169	broad.mit.edu	37	9	125391722	125391722	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:125391722G>A	uc011lyz.2	-	0	93	c.93C>T	c.(91-93)ttC>ttT	p.F31F		NM_001004450	NP_001004450	Q8NGR6	OR1B1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily B, member 1 (OR1B1), mRNA.	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						CCAGGAACAGGAAGAAGAGGA	0.498000														18			4		0	0	0.000248	0	0
VPS37B	79720	broad.mit.edu	37	12	123351923	123351923	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:123351923G>A	uc001udl.3	-	3	701	c.598C>T	c.(598-600)Cct>Tct	p.P200S		NM_024667	NP_078943	Q9H9H4	VP37B_HUMAN	Homo sapiens vacuolar protein sorting 37 homolog B (S. cerevisiae) (VPS37B), mRNA.	200	Pro-rich.				cellular membrane organization|endosome transport|protein transport	late endosome membrane				breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		GCAACGGCAGGAGGCCCACTG	0.726000														16			10		0	0	0.006214	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41735895	41735895	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:41735895G>A	uc003azw.3	+	9	1108	c.892G>A	c.(892-894)Ggg>Agg	p.G298R		NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	Homo sapiens zinc finger CCCH-type containing 7B (ZC3H7B), mRNA.	314					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						GTTCCCCGGCGGGACCCCACT	0.662000														52			33		0	0	0.003755	0	0
SLC25A20	788	broad.mit.edu	37	3	48896532	48896532	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:48896532G>A	uc003cva.4	-	6	910	c.711C>T	c.(709-711)ttC>ttT	p.F237F	SLC25A20_uc011bbw.2_Silent_p.F187F	NM_000387	NP_000378	O43772	MCAT_HUMAN	Homo sapiens solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 (SLC25A20), nuclear gene encoding mitochondrial protein, mRNA.	237					carnitine shuttle|cellular lipid metabolic process|regulation of fatty acid oxidation	integral to membrane|mitochondrial inner membrane	acyl carnitine transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000168)|Kidney(197;0.00231)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	L-Carnitine(DB00583)	CACCAGTCTGGAATCGAGACT	0.587000														19			6		0	0	0.003080	0	0
FAM71A	149647	broad.mit.edu	37	1	212799310	212799310	+	RNA	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:212799310G>A	uc010pth.1	-	0		c.804C>T			FAM71A_uc001hjk.3_Missense_Mutation_p.R364Q			Q8IYT1	FA71A_HUMAN	Homo sapiens cDNA FLJ40118 fis, clone TESTI2009412.											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		AGCCTTTCCCGAGAGGGCAGT	0.612000														19			28		0	0	0.006320	0	0
SERPINA12	145264	broad.mit.edu	37	14	94964104	94964104	+	Nonsense_Mutation	SNP	G	A	A	rs61757459	byFrequency	TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:94964104G>A	uc001ydj.3	-	2	1427	c.631C>T	c.(631-633)Cga>Tga	p.R211*		NM_173850	NP_776249	Q8IW75	SPA12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 (SERPINA12), mRNA.	211					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		GCCTTACCTCGAAAGAAAATA	0.408000														32			25		0	0	0.007291	0	0
P4HA1	5033	broad.mit.edu	37	10	74806745	74806745	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:74806745G>A	uc021ptk.1	-	6	1047	c.1015C>T	c.(1015-1017)Cgc>Tgc	p.R339C	P4HA1_uc010qka.2_Missense_Mutation_p.R339C|P4HA1_uc001jth.3_Missense_Mutation_p.R339C|P4HA1_uc001jtg.3_Missense_Mutation_p.R339C|P4HA1_uc010qkb.2_Missense_Mutation_p.R339C|P4HA1_uc021ptj.1_Missense_Mutation_p.R339C	NM_001142595	NP_001136067	P13674	P4HA1_HUMAN	Homo sapiens prolyl 4-hydroxylase, alpha polypeptide I (P4HA1), transcript variant 3, mRNA.	339						endoplasmic reticulum lumen|mitochondrion	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TCATGGAAGCGAATAATACGA	0.373000														33			33		0	0	0.003271	0	0
FAM71D	161142	broad.mit.edu	37	14	67671297	67671297	+	Missense_Mutation	SNP	G	A	A	rs147934887		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:67671297G>A	uc001xja.2	+	4	693	c.403G>A	c.(403-405)Gag>Aag	p.E135K	FAM71D_uc010aqn.2_Non-coding_Transcript	NM_173526	NP_775797	Q8N9W8	FA71D_HUMAN	Homo sapiens family with sequence similarity 71, member D (FAM71D), mRNA.	135										breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)	13		all_hematologic(31;0.0116)		all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012)		GCATGATGCGGAGAACATGAG	0.468000														13			9		0	0	0.000673	0	0
SP110	3431	broad.mit.edu	37	2	231036469	231036469	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:231036469G>A	uc002vqg.3	-	16	2070	c.1830C>T	c.(1828-1830)ctC>ctT	p.L610L	SP110_uc002vqh.3_Intron	NM_080424	NP_536349	Q9HB58	SP110_HUMAN	Homo sapiens SP110 nuclear body protein (SP110), transcript variant c, mRNA.	605	Bromo.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		CCTTCAAGAGGAGGAACTCAC	0.433000														19			8		0	0	0.003080	0	0
PCSK5	5125	broad.mit.edu	37	9	78794539	78794539	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:78794539T>C	uc004akc.2	+	14	2466	c.1928T>C	c.(1927-1929)gTt>gCt	p.V643A	PCSK5_uc004ajz.3_Missense_Mutation_p.V643A|PCSK5_uc004aka.3_Non-coding_Transcript|PCSK5_uc004akb.3_5'Flank	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	643	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TGCAGTGAGGTTGGCTGTGAC	0.458000														27			16		0	0	0.001523	0	0
MYO7B	4648	broad.mit.edu	37	2	128389279	128389279	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:128389279G>A	uc002top.3	+	36	5175	c.5122G>A	c.(5122-5124)Gac>Aac	p.D1708N	MYO7B_uc002tos.2_5'Flank	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	1708	MyTH4 2.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GGCCCTCCAGGACGAGGTCTA	0.672000														25			10		0	0	0.001368	0	0
PJA1	64219	broad.mit.edu	37	X	68382407	68382407	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:68382407C>T	uc022byl.1	-	0	675	c.675G>A	c.(673-675)agG>agA	p.R225R	PJA1_uc004dxg.3_Intron|PJA1_uc004dxh.3_Silent_p.R225R|PJA1_uc004dxi.3_Silent_p.R170R|PJA1_uc011mpi.2_5'UTR	NM_001032396	NP_001027568	Q8NG27	PJA1_HUMAN	Homo sapiens praja ring finger 1 (PJA1), transcript variant 2, mRNA.	225							zinc ion binding			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						AATTTTGCTCCCTTCTCTCCC	0.542000														1			20		0	0	0.001882	0	0
AKR1CL1	340811	broad.mit.edu	37	10	5204836	5204836	+	RNA	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:5204836C>T	uc009xhz.2	-	1		c.324G>A								Homo sapiens aldo-keto reductase family 1, member C-like 1 (AKR1CL1), non-coding RNA.											cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						TAGAATATTTCCTCTCTCTTG	0.413000														53			40		0	0	0.003610	0	0
ENGASE	64772	broad.mit.edu	37	17	77082217	77082217	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:77082217C>T	uc002jwv.3	+	13	2026	c.2018C>T	c.(2017-2019)tCt>tTt	p.S673F	ENGASE_uc002jww.3_Missense_Mutation_p.S378F	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN	Homo sapiens endo-beta-N-acetylglucosaminidase (ENGASE), mRNA.	673						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						AGTGATGACTCTCCGGGCAGG	0.627000														29			23		0	0	0.001882	0	0
RASGEF1A	221002	broad.mit.edu	37	10	43701390	43701390	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:43701390G>A	uc001jao.1	-	1	284	c.199C>T	c.(199-201)Ccc>Tcc	p.P67S	RASGEF1A_uc001jap.1_Missense_Mutation_p.P59S	NM_145313	NP_660356	Q8N9B8	RGF1A_HUMAN	Homo sapiens RasGEF domain family, member 1A (RASGEF1A), mRNA.	59	N-terminal Ras-GEF.				cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						TCCACCGTGGGAACAAGGTGC	0.637000														19			15		0	0	0.006122	0	0
EPS8L3	79574	broad.mit.edu	37	1	110304167	110304167	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:110304167A>G	uc001dyr.2	-	2	271	c.46T>C	c.(46-48)Tac>Cac	p.Y16H	EPS8L3_uc001dys.2_Missense_Mutation_p.Y16H|EPS8L3_uc001dyq.2_Missense_Mutation_p.Y16H|EPS8L3_uc009wfm.2_5'UTR|EPS8L3_uc009wfn.2_5'UTR|EPS8L3_uc009wfo.2_Missense_Mutation_p.Y16H	NM_133181	NP_573444	Q8TE67	ES8L3_HUMAN	Homo sapiens EPS8-like 3 (EPS8L3), transcript variant 2, mRNA.	16						cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		TTCTGGGAGTACTCCTTCCGG	0.612000														32			8		0	0	0.003080	0	0
GFRAL	389400	broad.mit.edu	37	6	55223891	55223891	+	Silent	SNP	T	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:55223891T>C	uc003pcm.1	+	5	993	c.907T>C	c.(907-909)Ttg>Ctg	p.L303L		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	303						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TGAGGAATCTTTGTGTAAGAT	0.373000														5			11		0	0	0.000673	0	0
HLA-J	3137	broad.mit.edu	37	6	29977358	29977358	+	Missense_Mutation	SNP	T	C	C	rs146982767	by1000genomes	TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:29977358T>C	uc021yty.1	+	4	404	c.386T>C	c.(385-387)aTg>aCg	p.M129T	HLA-G_uc011dmb.2_3'UTR|ZNRD1-AS1_uc011dme.2_Intron|HLA-J_uc003nou.4_Non-coding_Transcript|HLA-J_uc003nov.4_Non-coding_Transcript|HLA-J_uc003rtl.4_Missense_Mutation_p.M126T					Homo sapiens major histocompatibility complex, class I, J (pseudogene) (HLA-J), non-coding RNA.																		GATTTGTTCATGCCTTCCCTT	0.448000														27			9		0	0	0.001368	0	0
GOT2	2806	broad.mit.edu	37	16	58768098	58768098	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:58768098C>T	uc002eof.1	-	0	149	c.35G>A	c.(34-36)gGg>gAg	p.G12E	GOT2_uc010vim.1_Missense_Mutation_p.G12E	NM_002080	NP_002071	P00505	AATM_HUMAN	Homo sapiens glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2) (GOT2), nuclear gene encoding mitochondrial protein, mRNA.	12					aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol	mitochondrial matrix|plasma membrane	L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GGCGGCGATCCCGGGGAGGAC	0.726000														0			12		0	0	0.002450	0	0
PCDHB15	56121	broad.mit.edu	37	5	140625979	140625979	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:140625979C>T	uc003lje.3	+	0	833	c.833C>T	c.(832-834)tCa>tTa	p.S278L		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	278	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.I277L(1)		NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAGAGATATCATACTCCCTT	0.448000														18			22		0	0	0.003330	0	0
HRH1	3269	broad.mit.edu	37	3	11301138	11301138	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:11301138C>T	uc010hdr.3	+	1	757	c.415C>T	c.(415-417)Cgt>Tgt	p.R139C	HRH1_uc010hds.3_Missense_Mutation_p.R139C|HRH1_uc010hdt.3_Missense_Mutation_p.R139C|HRH1_uc003bwb.4_Missense_Mutation_p.R139C|HRH1_uc021wtb.1_Missense_Mutation_p.R139C	NM_001098213	NP_001091683	P35367	HRH1_HUMAN	Homo sapiens histamine receptor H1 (HRH1), transcript variant 1, mRNA.	139					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	CCTTAAGTATCGTACCAAGAC	0.532000														36			66		0	0	0.003610	0	0
C1orf114	57821	broad.mit.edu	37	1	169391297	169391297	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:169391297C>T	uc001gga.1	-	2	540	c.372G>A	c.(370-372)agG>agA	p.R124R	C1orf114_uc001gfz.1_Silent_p.R124R|C1orf114_uc009wvq.1_Silent_p.R124R|C1orf114_uc001ggb.3_Silent_p.R124R|C1orf114_uc001ggc.1_Silent_p.R124R	NM_021179	NP_067002	Q5TID7	CA114_HUMAN	Homo sapiens chromosome 1 open reading frame 114 (C1orf114), mRNA.	124										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(3)	22	all_hematologic(923;0.208)					TAATATATCTCCTTACTTCCT	0.393000														8			26		0	0	0.006320	0	0
ANKRD17	26057	broad.mit.edu	37	4	74008371	74008371	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:74008371T>A	uc003hgp.3	-	11	2188	c.2071A>T	c.(2071-2073)Act>Tct	p.T691S	ANKRD17_uc003hgo.3_Missense_Mutation_p.T578S|ANKRD17_uc003hgq.3_Missense_Mutation_p.T691S|ANKRD17_uc003hgr.3_Missense_Mutation_p.T691S|ANKRD17_uc011cbd.1_Missense_Mutation_p.T256S	NM_032217	NP_115593	O75179	ANR17_HUMAN	Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA.	691					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AAACGGTGAGTAGGATCTGCC	0.418000														12			10		0	0	0.006214	0	0
MT1H	4496	broad.mit.edu	37	16	56704472	56704472	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:56704472C>T	uc002ejw.3	+	1	154	c.83C>T	c.(82-84)tCc>tTc	p.S28F	MT1G_uc002eju.1_5'Flank|MT1G_uc002ejv.1_5'Flank	NM_005951	NP_005942	P80294	MT1H_HUMAN	Homo sapiens metallothionein 1H (MT1H), mRNA.	28	Beta.						metal ion binding|protein binding			lung(5)	5						AAATGCACCTCCTGCAAGAAG	0.567000														0			14		0	0	0.001855	0	0
MYBBP1A	10514	broad.mit.edu	37	17	4455508	4455508	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:4455508G>A	uc002fxz.4	-	6	879	c.817C>T	c.(817-819)Cgc>Tgc	p.R273C	MYBBP1A_uc002fyb.4_Missense_Mutation_p.R273C	NM_001105538	NP_001099008	Q9BQG0	MBB1A_HUMAN	Homo sapiens MYB binding protein (P160) 1a (MYBBP1A), transcript variant 1, mRNA.	273	Interaction with MYB (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NLS-dependent protein nuclear import complex|cytoplasm|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						AGTGCCAGGCGGAGCAGGTCC	0.617000														18			25		0	0	0.005443	0	0
SPATA21	374955	broad.mit.edu	37	1	16736285	16736285	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:16736285G>A	uc001ayn.3	-	5	881	c.398C>T	c.(397-399)tCg>tTg	p.S133L	SPATA21_uc001ayl.1_Non-coding_Transcript|SPATA21_uc010occ.2_Missense_Mutation_p.S110L	NM_198546	NP_940948	Q7Z572	SPT21_HUMAN	Homo sapiens spermatogenesis associated 21 (SPATA21), mRNA.	133	Pro-rich.						calcium ion binding			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		GGCAGGGACCGAGGCAGGGGT	0.721000														4			18		0	0	0.001216	0	0
VIPR1	7433	broad.mit.edu	37	3	42573302	42573302	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:42573302G>A	uc003clf.2	+	8	983	c.859G>A	c.(859-861)Gac>Aac	p.D287N	VIPR1_uc021wwl.1_Missense_Mutation_p.D246N|VIPR1_uc011azn.2_Missense_Mutation_p.D260N|VIPR1_uc011azl.1_Missense_Mutation_p.D239N|VIPR1_uc011azm.1_Missense_Mutation_p.D77N|VIPR1_uc003clg.2_5'UTR	NM_004624	NP_001238811	P32241	VIPR1_HUMAN	Homo sapiens vasoactive intestinal peptide receptor 1 (VIPR1), transcript variant 1, mRNA.	287					G-protein signaling, coupled to cyclic nucleotide second messenger|digestion|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		CAGGTGCTGGGACACCATCAA	0.582000														59			12		0	0	0.004990	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107450575	107450575	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:107450575T>G	uc002tdq.3	-	2	1090	c.971A>C	c.(970-972)aAc>aCc	p.N324T	ST6GAL2_uc002tdr.3_Missense_Mutation_p.N324T|ST6GAL2_uc002tds.3_Missense_Mutation_p.N324T	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	324					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						AGGAGCAGAGTTAAATCTCAA	0.378000														44			24		0	0	0.004656	0	0
RBM26	64062	broad.mit.edu	37	13	79911419	79911419	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:79911419G>A	uc001vkz.2	-	18	2571	c.2557C>T	c.(2557-2559)Ctt>Ttt	p.L853F	RBM26_uc001vky.2_Missense_Mutation_p.L824F|RBM26_uc001vla.2_Missense_Mutation_p.L827F|RBM26_uc001vkx.2_Missense_Mutation_p.L563F|RBM26_uc010tia.2_Missense_Mutation_p.L208F	NM_022118	NP_071401	Q5T8P6	RBM26_HUMAN	Homo sapiens RNA binding motif protein 26 (RBM26), mRNA.	851					mRNA processing		RNA binding|nucleotide binding|protein binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		CCAGATGAAAGAATCCCTCGT	0.517000														37			24		0	0	0.007291	0	0
PSAPL1	768239	broad.mit.edu	37	4	7435841	7435841	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:7435841C>T	uc011bwj.2	-	0	860	c.766G>A	c.(766-768)Gag>Aag	p.E256K	SORCS2_uc003gkb.4_Intron|SORCS2_uc011bwi.2_Intron	NM_001085382	NP_001078851	Q6NUJ1	SAPL1_HUMAN	Homo sapiens prosaposin-like 1 (gene/pseudogene) (PSAPL1), mRNA.	256	Saposin B-type 2.				sphingolipid metabolic process	extracellular region|lysosome				lung(4)	4						GCCCCTAGCTCCTCACAGAAT	0.587000														21			9		0	0	0.001368	0	0
MICAL2	9645	broad.mit.edu	37	11	12278353	12278353	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:12278353C>T	uc001mjz.3	+	23	3265	c.2977C>T	c.(2977-2979)Ccc>Tcc	p.P993S	MICAL2_uc010rch.1_Missense_Mutation_p.P803S|MICAL2_uc001mka.3_Missense_Mutation_p.P993S|MICAL2_uc010rci.2_Missense_Mutation_p.P972S|MICAL2_uc001mkb.3_Missense_Mutation_p.P767S|MICAL2_uc001mkc.3_Missense_Mutation_p.P746S|MICAL2_uc001mkd.3_Missense_Mutation_p.P575S|MICAL2_uc010rcj.2_Missense_Mutation_p.P205S|MICAL2_uc001mkf.3_Non-coding_Transcript	NM_014632	NP_055447	O94851	MICA2_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 2 (MICAL2), mRNA.	993						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	p.P993P(1)|p.P993H(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		AAAGTCATTTCCCCTTAACCT	0.522000														18			6		0	0	0.003080	0	0
SYNJ1	8867	broad.mit.edu	37	21	34053870	34053870	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr21:34053870G>A	uc002yqh.2	-	10	1406	c.1406C>T	c.(1405-1407)tCc>tTc	p.S469F	SYNJ1_uc011ads.1_Missense_Mutation_p.S430F|SYNJ1_uc002yqf.2_Missense_Mutation_p.S430F|SYNJ1_uc002yqg.2_Missense_Mutation_p.S430F|SYNJ1_uc002yqi.2_Missense_Mutation_p.S469F	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	Homo sapiens synaptojanin 1 (SYNJ1), transcript variant 1, mRNA.	430							RNA binding|inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						ACCATTCACGGACCACATTGA	0.398000														52			47		0	0	0.003610	0	0
GRIK1	2897	broad.mit.edu	37	21	30934004	30934004	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr21:30934004T>C	uc002yno.1	-	14	2761	c.2297A>G	c.(2296-2298)aAc>aGc	p.N766S	GRIK1_uc002ynn.3_Missense_Mutation_p.N751S|GRIK1_uc011acs.2_Missense_Mutation_p.N766S|GRIK1_uc011act.2_Missense_Mutation_p.N627S	NM_000830	NP_000821	P39086	GRIK1_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 1 (GRIK1), transcript variant 1, mRNA.	766					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	CTGAGTGAGGTTGCAGTTTCT	0.507000														35			25		0	0	0.007291	0	0
BFSP1	631	broad.mit.edu	37	20	17475348	17475348	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:17475348C>T	uc002wpo.3	-	7	1408	c.1369G>A	c.(1369-1371)Gag>Aag	p.E457K	BFSP1_uc002wpp.3_Missense_Mutation_p.E332K|BFSP1_uc010zrn.2_Missense_Mutation_p.E318K|BFSP1_uc010zro.2_Missense_Mutation_p.E318K	NM_001195	NP_001186	Q12934	BFSP1_HUMAN	Homo sapiens beaded filament structural protein 1, filensin (BFSP1), transcript variant 1, mRNA.	457	Tail.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						GTCTCAGGCTCTTTGGGGCTT	0.532000														39			40		0	0	0.002522	0	0
GRIK3	2899	broad.mit.edu	37	1	37270690	37270690	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:37270690G>A	uc001caz.2	-	14	2598	c.2463C>T	c.(2461-2463)atC>atT	p.I821I	GRIK3_uc001cba.1_Silent_p.I821I	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	821					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	AGATGCCCCCGATCTTCTGGA	0.597000														22			50		0	0	0.003610	0	0
POTEG	404785	broad.mit.edu	37	14	19563534	19563534	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:19563534C>T	uc001vuz.1	+	4	1100	c.1048C>T	c.(1048-1050)Cat>Tat	p.H350Y	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript|P712P_uc001vvb.3_Non-coding_Transcript	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	350								p.H349N(1)|p.H349Q(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TTCTAGTCATCATAATGTGTA	0.348000														58			35		0	0	0.006230	0	0
SLK	9748	broad.mit.edu	37	10	105765698	105765698	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:105765698C>T	uc001kxo.1	+	10	2543	c.2509C>T	c.(2509-2511)Ctt>Ttt	p.L837F	SLK_uc001kxp.1_Missense_Mutation_p.L837F	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN	Homo sapiens STE20-like kinase (SLK), mRNA.	837					apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		ATTAAGATTTCTTCAGAAAGA	0.358000														34			40		0	0	0.001951	0	0
MYOM3	127294	broad.mit.edu	37	1	24434502	24434503	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:24434502_24434503CC>TT	uc001bin.4	-	2	385_386	c.222_223GG>AA	c.(220-225)acggcc>acAAcc	p.A75T	MYOM3_uc001bio.3_Missense_Mutation_p.A75T|MYOM3_uc001bip.1_5'UTR	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	75										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TCGGAGGAGGCCGTCAGAGCCA	0.639000														17			32		0	0	0.004672	0	0
PSG7	5676	broad.mit.edu	37	19	43430737	43430737	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:43430737G>A	uc002ovl.4	-	4	940	c.838C>T	c.(838-840)Ccg>Tcg	p.P280S	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Missense_Mutation_p.P159S	NM_002783	NP_002774	Q13046	PSG7_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.	281	Ig-like C2-type 2.				female pregnancy	extracellular region							Prostate(69;0.00682)				GGACTGACCGGGAGGCTCTGA	0.468000														131			119		0	0	0.003610	0	0
NAV3	89795	broad.mit.edu	37	12	78444681	78444681	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:78444681C>T	uc001syp.3	+	10	2443	c.2270C>T	c.(2269-2271)cCc>cTc	p.P757L	NAV3_uc001syo.3_Missense_Mutation_p.P757L|NAV3_uc010sub.2_Missense_Mutation_p.P257L	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	757						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GGAGATGCTCCCTCCCTGGGT	0.587000										HNSCC(70;0.22)				1			8		0	0	0.004482	0	0
OR6C65	403282	broad.mit.edu	37	12	55794708	55794708	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:55794708C>T	uc010spl.2	+	0	396	c.396C>T	c.(394-396)acC>acT	p.T132T		NM_001005518	NP_001005518	A6NJZ3	O6C65_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 65 (OR6C65), mRNA.	132					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						ATTATACAACCATCATGAGTA	0.388000														65			24		0	0	0.004656	0	0
CCDC129	223075	broad.mit.edu	37	7	31683223	31683223	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:31683223G>A	uc011kae.2	+	10	2329	c.2317G>A	c.(2317-2319)Gaa>Aaa	p.E773K	CCDC129_uc011kad.1_Missense_Mutation_p.E757K|CCDC129_uc003tcj.1_Missense_Mutation_p.E747K|CCDC129_uc003tci.1_Missense_Mutation_p.E598K|CCDC129_uc003tck.1_Missense_Mutation_p.E655K	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.	747										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TACCGCAACAGAAACAAGACT	0.527000														2			49		0	0	0.003610	0	0
KRT9	3857	broad.mit.edu	37	17	39728022	39728022	+	Missense_Mutation	SNP	C	T	T	rs143561490		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:39728022C>T	uc002hxe.4	-	0	289	c.223G>A	c.(223-225)Gga>Aga	p.G75R	JUP_uc010wfs.2_Intron	NM_000226	NP_000217	P35527	K1C9_HUMAN	Homo sapiens keratin 9 (KRT9), mRNA.	75	Head.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				CCAGATCCTCCGCCGTAGCTG	0.582000														2			9		0	0	0.000673	0	0
OR5D14	219436	broad.mit.edu	37	11	55563154	55563154	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:55563154G>A	uc010rim.2	+	0	123	c.123G>A	c.(121-123)gtG>gtA	p.V41V		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 14 (OR5D14), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TTATCACAGTGGTAGGAAACC	0.393000														20			18		0	0	0.006122	0	0
SGMS1	259230	broad.mit.edu	37	10	52067903	52067903	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:52067903G>A	uc001jje.3	-	9	1855	c.901C>T	c.(901-903)Cct>Tct	p.P301S	SGMS1_uc010qhk.2_Missense_Mutation_p.P132S	NM_147156	NP_671512	Q86VZ5	SMS1_HUMAN	Homo sapiens sphingomyelin synthase 1 (SGMS1), mRNA.	307					apoptosis|cell growth|sphingomyelin biosynthetic process	Golgi trans cisterna|endoplasmic reticulum|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						AGTCGCCGAGGGGAATCTGAA	0.463000														12			11		0	0	0.000978	0	0
DAP3	7818	broad.mit.edu	37	1	155691377	155691377	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:155691377C>T	uc001flq.3	+	3	395	c.238C>T	c.(238-240)Ccc>Tcc	p.P80S	GON4L_uc021paz.1_Intron|DAP3_uc010pgl.2_Missense_Mutation_p.P39S|DAP3_uc010pgm.2_Intron|DAP3_uc001fls.3_Missense_Mutation_p.P80S|DAP3_uc001flr.3_Missense_Mutation_p.P80S	NM_033657	NP_387506	P51398	RT29_HUMAN	Homo sapiens death associated protein 3 (DAP3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	80					induction of apoptosis by extracellular signals	mitochondrial ribosome|nucleolus|small ribosomal subunit	protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					GACTGTATTTCCCCATGGCCT	0.527000														49			15		0	0	0.004990	0	0
NAP1L3	4675	broad.mit.edu	37	X	92927121	92927121	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:92927121C>T	uc004efq.3	-	0	1562	c.1183G>A	c.(1183-1185)Gaa>Aaa	p.E395K	FAM133A_uc022bzw.1_5'Flank|FAM133A_uc022bzu.1_5'Flank|FAM133A_uc004efr.2_5'Flank|FAM133A_uc022bzv.1_5'Flank	NM_004538	NP_004529	Q99457	NP1L3_HUMAN	Homo sapiens nucleosome assembly protein 1-like 3 (NAP1L3), mRNA.	395					nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						TCTTCAATTTCCCATCCCCAA	0.413000														1			6		0	0	0.001168	0	0
MMP1	4312	broad.mit.edu	37	11	102661499	102661499	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:102661499G>A	uc001phi.2	-	8	1378	c.1235C>T	c.(1234-1236)cCc>cTc	p.P412L	LOC100288077_uc001phh.1_Intron|MMP1_uc010ruv.1_Missense_Mutation_p.P346L	NM_002421	NP_001139410	P03956	MMP1_HUMAN	Homo sapiens matrix metallopeptidase 1 (interstitial collagenase) (MMP1), transcript variant 1, mRNA.	412	Hemopexin-like 3.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.P412P(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		TATCATTTTGGGATAACCTGG	0.363000														23			21		0	0	0.003330	0	0
ATP1B2	482	broad.mit.edu	37	17	7558868	7558868	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:7558868C>T	uc002gif.1	+	5	1216	c.633C>T	c.(631-633)ctC>ctT	p.L211L		NM_001678	NP_001669	P14415	AT1B2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, beta 2 polypeptide (ATP1B2), mRNA.	211					ATP biosynthetic process|blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|sodium:potassium-exchanging ATPase activity	p.0?(2)|p.?(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1)	10		all_cancers(10;0.000178)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)		CTGAGAATCTCGGCAACTTCG	0.562000														17			34		0	0	0.006999	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12832316	12832316	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:12832316C>T	uc002gnr.4	+	6	862	c.535C>T	c.(535-537)Ctc>Ttc	p.L179F	ARHGAP44_uc010vvk.2_Missense_Mutation_p.L179F|ARHGAP44_uc010vvl.2_Missense_Mutation_p.L179F|ARHGAP44_uc002gns.4_Intron|ARHGAP44_uc010vvm.2_Missense_Mutation_p.L179F|ARHGAP44_uc010vvn.2_Non-coding_Transcript	NM_014859	NP_055674	Q17R89	RHG44_HUMAN	Homo sapiens Rho GTPase activating protein 44 (ARHGAP44), mRNA.	179	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.A178T(1)		NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						GGCTGATGCCCTCAGGGAAGA	0.552000														5			6		0	0	0.001984	0	0
RIMS2	9699	broad.mit.edu	37	8	105161027	105161027	+	Silent	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:105161027C>T	uc003yls.3	+	22	3580	c.3339C>T	c.(3337-3339)atC>atT	p.I1113I	RIMS2_uc003ylp.3_Intron|RIMS2_uc003ylw.2_Silent_p.I1102I|RIMS2_uc003ylq.3_Intron|RIMS2_uc003ylr.3_Intron	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	541					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TGGTAGCTATCGTTGGTCTGT	0.483000										HNSCC(12;0.0054)				28			34		0	0	0.004289	0	0
CASZ1	54897	broad.mit.edu	37	1	10702960	10702960	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:10702960C>T	uc001aro.3	-	19	4438	c.4118G>A	c.(4117-4119)cGg>cAg	p.R1373Q		NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	1373					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.R1373R(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GGAGCAGCTCCGGTCCATGGT	0.672000														7			21		0	0	0.001523	0	0
ANKRD26	22852	broad.mit.edu	37	10	27389211	27389211	+	Silent	SNP	G	A	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:27389211G>A	uc009xku.1	-	0	217	c.45C>T	c.(43-45)tcC>tcT	p.S15S	ANKRD26_uc001ith.2_Silent_p.S15S	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	Homo sapiens ankyrin repeat domain 26 (ANKRD26), transcript variant 1, mRNA.	15						centrosome		p.G14S(1)|p.G14A(1)|p.G14C(1)		breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						GCCGCGCGAAGGAGCCCAAGG	0.667000														28			21		0	0	0.002780	0	0
GIPC1	10755	broad.mit.edu	37	19	14591135	14591135	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:14591135C>T	uc002myt.3	-	5	907	c.637G>A	c.(637-639)Gag>Aag	p.E213K	GIPC1_uc002myv.3_Missense_Mutation_p.E116K|GIPC1_uc002myu.3_Missense_Mutation_p.E213K|GIPC1_uc002myw.3_Missense_Mutation_p.E116K|GIPC1_uc002myx.3_Missense_Mutation_p.E213K|GIPC1_uc002myy.3_Missense_Mutation_p.E116K	NM_005716	NP_974223	O14908	GIPC1_HUMAN	Homo sapiens GIPC PDZ domain containing family, member 1 (GIPC1), transcript variant 1, mRNA.	213	PDZ.				G-protein coupled receptor protein signaling pathway|endothelial cell migration|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						TTGCGAGGCTCCGTGAGCTTC	0.716000											OREG0025316	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		30			26		0	0	0.007291	0	0
KCNQ2	3785	broad.mit.edu	37	20	62076635	62076635	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:62076635C>T	uc002yey.1	-	2	647	c.470G>A	c.(469-471)tGg>tAg	p.W157*	KCNQ2_uc002yez.1_Nonsense_Mutation_p.W157*|KCNQ2_uc002yfa.1_Nonsense_Mutation_p.W157*|KCNQ2_uc002yfb.1_Nonsense_Mutation_p.W157*|KCNQ2_uc011aax.1_Nonsense_Mutation_p.W157*|KCNQ2_uc002yfc.1_Nonsense_Mutation_p.W157*	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 2 (KCNQ2), transcript variant 1, mRNA.	157					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	CCGCCCCCTCCAGCCACGGTA	0.617000														28			29		0	0	0.001786	0	0
SLC4A4	8671	broad.mit.edu	37	4	72338550	72338550	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:72338550C>T	uc010iic.3	+	13	1883	c.1766C>T	c.(1765-1767)tCc>tTc	p.S589F	SLC4A4_uc003hfy.3_Missense_Mutation_p.S589F|SLC4A4_uc010iib.3_Missense_Mutation_p.S589F|SLC4A4_uc003hfz.3_Missense_Mutation_p.S589F|SLC4A4_uc003hgc.4_Missense_Mutation_p.S545F|SLC4A4_uc010iid.3_Intron|SLC4A4_uc003hga.2_Missense_Mutation_p.S467F|SLC4A4_uc003hgb.3_Missense_Mutation_p.S545F	NM_001134742	NP_001128214	Q9Y6R1	S4A4_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 4 (SLC4A4), transcript variant 3, mRNA.	589						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			GAGGGCTTTTCCTCTCTGATT	0.453000														6			4		0	0	0.000248	0	0
ANKRD20A2	441430	broad.mit.edu	37	2	95488793	95488793	+	RNA	SNP	C	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:95488793C>T	uc010fhp.3	-	9		c.925G>A						Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A8, pseudogene (ANKRD20A8P), non-coding RNA.											large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						TCTTGCTCTTCCTCTGAAGCC	0.313000														43			17		0	0	0.002299	0	0
NCKAP1	10787	broad.mit.edu	37	2	183821201	183821213	+	Frame_Shift_Del	DEL	TATTTCCAGATGA	-	-	rs112295501		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:183821201_183821213delTATTTCCAGATGA	uc002upc.3	-	19	2532_2544	c.2130_2142delTCATCTGGAAATA	c.(2128-2142)tctcatctggaaatafs	p.S710fs	NCKAP1_uc002upb.3_Frame_Shift_Del_p.S716fs	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	Homo sapiens NCK-associated protein 1 (NCKAP1), transcript variant 1, mRNA.	710					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TGGTAAAGCGTATTTCCAGATGAGAAGTCAAAT	0.329													---	74	---	---	8	---					
HTT	3064	broad.mit.edu	37	4	3230640	3230640	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:3230640delT	uc021xkv.1	+	58	8158	c.8013delT	c.(8011-8013)tgtfs	p.C2671fs		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	2671					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TCCACTCCTGTTCGCAGTTTT	0.527													---	39	---	---	17	---					
GRIA2	2891	broad.mit.edu	37	4	158281038	158281052	+	Splice_Site	DEL	TTTCCTGCAGAGATC	-	-			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:158281038_158281052delTTTCCTGCAGAGATC	uc003ipm.4	+	13	2503	c.2044_splice	c.e13-1	p.R682_splice	GRIA2_uc011cit.2_Splice_Site_p.R635_splice|GRIA2_uc003ipl.4_Splice_Site_p.R682_splice|GRIA2_uc003ipk.4_Splice_Site_p.R635_splice|GRIA2_uc010iqh.1_Splice_Site|GRIA2_uc011ciu.1_5'UTR|GRIA2_uc011civ.1_5'UTR|GRIA2_uc011ciw.1_5'UTR|GRIA2_uc011cix.1_5'UTR|GRIA2_uc011ciy.1_5'UTR|GRIA2_uc011ciz.1_5'UTR	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	682					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	GCCCCTTACTTTTCCTGCAGAGATCTAAAATTGCA	0.423													---	10	---	---	8	---					
MYO10	4651	broad.mit.edu	37	5	16694605	16694606	+	Frame_Shift_Ins	INS	-	C	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:16694605_16694606insC	uc003jft.4	-	26	4142_4143	c.3674_3675insG	c.(3673-3675)ggcfs	p.G1225fs	MYO10_uc011cnc.2_Frame_Shift_Ins_p.G104fs|MYO10_uc011cnd.2_Frame_Shift_Ins_p.G582fs|MYO10_uc011cne.2_Frame_Shift_Ins_p.G582fs|MYO10_uc010itx.3_Frame_Shift_Ins_p.G848fs	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	Homo sapiens myosin X (MYO10), mRNA.	1225	PH 1.				axon guidance|signal transduction	myosin complex	ATP binding|actin binding|motor activity	p.S1226fs*25(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GCGTGGAGGAGCCCCCCCCTTT	0.564													---	83	---	---	51	---					
TDRD6	221400	broad.mit.edu	37	6	46657352	46657352	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:46657352delT	uc003oyj.3	+	0	1741	c.1487delT	c.(1486-1488)gttfs	p.V496fs	TDRD6_uc010jze.3_Frame_Shift_Del_p.V496fs	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.	496					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GTAGAGTTTGTTAAAAATCCT	0.418													---	24	---	---	48	---					
PKHD1L1	93035	broad.mit.edu	37	8	110393720	110393729	+	Frame_Shift_Del	DEL	AACTCAAATT	-	-			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:110393720_110393729delAACTCAAATT	uc003yne.3	+	2	389_398	c.285_294delAACTCAAATT	c.(283-294)tcaactcaaattfs	p.S95fs		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	95	IPT/TIG 1.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CAAGTCATTCAACTCAAATTACATGCTATA	0.276										HNSCC(38;0.096)			---	4	---	---	2	---					
ENKUR	219670	broad.mit.edu	37	10	25284707	25284707	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:25284707delA	uc001isg.1	-	2	480	c.315delT	c.(313-315)tttfs	p.F105fs	ENKUR_uc001ish.1_Frame_Shift_Del_p.F43fs	NM_145010	NP_659447	Q8TC29	ENKUR_HUMAN	Homo sapiens enkurin, TRPC channel interacting protein (ENKUR), mRNA.	105						cilium|flagellum	SH3 domain binding|calmodulin binding			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						TTGTATTTATAAAATTTTTTC	0.373													---	46	---	---	57	---					
KIAA0913	23053	broad.mit.edu	37	10	75553742	75553742	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:75553742delC	uc001jvj.3	+	11	2820	c.2565delC	c.(2563-2565)ttcfs	p.F855fs	KIAA0913_uc001jve.3_Frame_Shift_Del_p.F855fs|KIAA0913_uc009xrl.3_Frame_Shift_Del_p.F855fs|KIAA0913_uc001jvf.3_Frame_Shift_Del_p.F855fs|KIAA0913_uc001jvh.3_Non-coding_Transcript|KIAA0913_uc001jvi.3_Frame_Shift_Del_p.F278fs|KIAA0913_uc010qkr.2_Frame_Shift_Del_p.F278fs	NM_001242488	NP_001229417	A7E2V4	K0913_HUMAN	Homo sapiens KIAA0913 (KIAA0913), transcript variant 3, mRNA.	855							zinc ion binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|lung(6)	19	Prostate(51;0.0112)					ACCTGGCCTTCCGAGTTGGCA	0.567													---	8	---	---	6	---					
SPI1	6688	broad.mit.edu	37	11	47380542	47380542	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:47380542delG	uc001nfb.1	-	3	572	c.349delC	c.(349-351)cggfs	p.R117fs	SPI1_uc001nfc.1_Frame_Shift_Del_p.R116fs|SLC39A13_uc001nfd.3_Intron|SPI1_uc009ylp.1_Frame_Shift_Del_p.R110fs	NM_001080547	NP_001074016	P17947	SPI1_HUMAN	Homo sapiens spleen focus forming virus (SFFV) proviral integration oncogene spi1 (SPI1), transcript variant 1, mRNA.	116					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation	nucleus	RNA binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1)	8				Lung(87;0.0967)		AGGCACATCCGGGGCAGGTAG	0.667													---	25	---	---	7	---					
OR5M11	219487	broad.mit.edu	37	11	56309917	56309917	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:56309917delT	uc010rjl.2	-	0	817	c.817delA	c.(817-819)atafs	p.I273fs	OR8U8_uc001nit.2_Intron	NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 11 (OR5M11), mRNA.	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I272L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						AAGACAGCTATTATTTTAGAT	0.408													---	23	---	---	12	---					
EMG1	10436	broad.mit.edu	37	12	7080212	7080213	+	Splice_Site	INS	-	C	C	rs36063533		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	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	---	---	7	---					
OR6C68	403284	broad.mit.edu	37	12	55887068	55887069	+	Frame_Shift_Ins	INS	-	T	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:55887068_55887069insT	uc010spo.2	+	0	922_923	c.922_923insT	c.(922-924)ctcfs	p.L308fs		NM_001005519	NP_001005519	A6NDL8	O6C68_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 68 (OR6C68), mRNA.	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						TCATGACTCACTCAAAAAAATT	0.297													---	11	---	---	15	---					
UBC	7316	broad.mit.edu	37	12	125397794	125397794	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:125397794delA	uc001ugs.4	-	1	982	c.524delT	c.(523-525)atcfs	p.I175fs	UBC_uc001ugr.3_5'Flank|UBC_uc001ugt.3_Frame_Shift_Del_p.I175fs|UBC_uc001ugu.1_Frame_Shift_Del_p.I175fs|UBC_uc001ugv.3_Intron|UBC_uc021rge.1_Frame_Shift_Del_p.I175fs|UBC_uc001ugw.3_Frame_Shift_Del_p.I23fs	NM_021009	NP_066289	P0CG48	UBC_HUMAN	Homo sapiens ubiquitin C (UBC), mRNA.	175	Ubiquitin-like 3.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GACATTCTCGATGGTGTCACT	0.532													---	51	---	---	47	---					
SNX6	58533	broad.mit.edu	37	14	35036975	35036976	+	Splice_Site	DEL	GT	-	-			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:35036975_35036976delGT	uc001wsf.1	-	13	1126	c.1118_splice	c.e13-1	p.E373_splice	SNX6_uc001wse.1_Splice_Site_p.E245_splice|SNX6_uc010tpm.1_Splice_Site_p.E249_splice	NM_152233	NP_067072	Q9UNH7	SNX6_HUMAN	Homo sapiens sorting nexin 6 (SNX6), transcript variant 2, mRNA.	361					cell communication|intracellular protein transport|negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|retrograde transport, endosome to Golgi	cytoplasmic vesicle membrane|early endosome membrane|nucleus	phosphatidylinositol binding|protein homodimerization activity			endometrium(4)|lung(1)|ovary(1)	6	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.0245)		AAATCTATAAGTTCTGTGAAAA	0.312													---	22	---	---	15	---					
ANKRD11	29123	broad.mit.edu	37	16	89347832	89347832	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:89347832delA	uc002fmx.1	-	8	5579	c.5118delT	c.(5116-5118)cctfs	p.P1706fs	ANKRD11_uc002fmy.1_Frame_Shift_Del_p.P1706fs|ANKRD11_uc002fnc.1_Frame_Shift_Del_p.P1706fs|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Frame_Shift_Del_p.P1663fs	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	1706						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GCACCGACGTAGGGGTGGGCA	0.667													---	10	---	---	57	---					
TMIGD1	388364	broad.mit.edu	37	17	28645885	28645894	+	Frame_Shift_Del	DEL	AACACATGCA	-	-			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:28645885_28645894delAACACATGCA	uc002hfa.1	-	4	751_760	c.678_687delTGCATGTGTT	c.(676-687)gctgcatgtgttfs	p.A226fs	TMIGD1_uc010csh.1_Intron	NM_206832	NP_996663	Q6UXZ0	TMIG1_HUMAN	Homo sapiens transmembrane and immunoglobulin domain containing 1 (TMIGD1), mRNA.	226						integral to membrane				breast(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	12						GAAAGATCACAACACATGCAGCAATAATGG	0.362													---	24	---	---	9	---					
DSC3	1825	broad.mit.edu	37	18	28574274	28574274	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:28574274delT	uc002kwj.4	-	15	2713	c.2558delA	c.(2557-2559)aacfs	p.N853fs	DSC3_uc002kwi.4_3'UTR	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	853					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TCCCTCATAGTTATAAGTGAG	0.373													---	17	---	---	28	---					
SIM2	6493	broad.mit.edu	37	21	38072104	38072104	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr21:38072104delT	uc002yvr.2	+	0	114	c.58delT	c.(58-60)tttfs	p.F20fs	SIM2_uc002yvp.3_Frame_Shift_Del_p.F20fs|SIM2_uc002yvq.3_Frame_Shift_Del_p.F20fs	NM_005069	NP_005060	Q14190	SIM2_HUMAN	Homo sapiens single-minded homolog 2 (Drosophila) (SIM2), transcript variant SIM2, mRNA.	20	Helix-loop-helix motif.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						AAATGGCGAGTTTTACGAGCT	0.602													---	9	---	---	7	---					
TLR7	51284	broad.mit.edu	37	X	12904964	12904964	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:12904964delC	uc004cvc.3	+	2	1476	c.1337delC	c.(1336-1338)tcafs	p.S446fs		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	Homo sapiens toll-like receptor 7 (TLR7), mRNA.	446					I-kappaB phosphorylation|cellular response to mechanical stimulus|defense response to virus|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|siRNA binding|single-stranded RNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	GGCTTCTGCTCAAATGCCAGA	0.353													---	2	---	---	47	---					
