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
TRANK1	9881	broad.mit.edu	37	3	36897004	36897004	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:36897004G>A	uc003cgj.3	-	11	4325	c.4077C>T	c.(4075-4077)tcC>tcT	p.S1359S		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1359					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						AACCTTTCTGGGACCTGATTT	0.473000														92			28		0	0	1	0	0
AKAP1	8165	broad.mit.edu	37	17	55184233	55184233	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:55184233C>T	uc010wnl.2	+	2	1690	c.1408C>T	c.(1408-1410)Ccc>Tcc	p.P470S	AKAP1_uc002iux.3_Missense_Mutation_p.P470S|AKAP1_uc021uak.1_Missense_Mutation_p.P470S|AKAP1_uc010dcm.3_Missense_Mutation_p.P470S|AKAP1_uc002iuy.3_Non-coding_Transcript	NM_001242902	NP_001229831	Q92667	AKAP1_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 1 (AKAP1), transcript variant 2, mRNA.	470					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	RNA binding|protein binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					ACTGACCACCCCCAGTGAAGA	0.592000														135			4		0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156642832	156642832	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:156642832G>A	uc001fpq.3	-	3	1281	c.1148C>T	c.(1147-1149)cCt>cTt	p.P383L	NES_uc021pbh.1_5'Flank	NM_006617	NP_006608	P48681	NEST_HUMAN	Homo sapiens nestin (NES), mRNA.	383	Tail.				G2/M transition of mitotic cell cycle|brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGCCAAGGTAGGGGTACGGGC	0.602000														86			75		0	0	1	0	0
CST4	1472	broad.mit.edu	37	20	23669594	23669594	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:23669594G>A	uc002wto.1	-	0	69	c.13C>T	c.(13-15)Ctg>Ttg	p.L5L		NM_001899	NP_001890	P01036	CYTS_HUMAN	Homo sapiens cystatin S (CST4), mRNA.	5						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					AGGGTACACAGAGGCCGGGCC	0.617000														18			14		0	0	1	0	0
FUT9	10690	broad.mit.edu	37	6	96651324	96651324	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:96651324C>T	uc003pop.4	+	2	634	c.293C>T	c.(292-294)tCa>tTa	p.S98L	FUT9_uc021zcw.1_Missense_Mutation_p.S98L	NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	Homo sapiens fucosyltransferase 9 (alpha (1,3) fucosyltransferase) (FUT9), mRNA.	98					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)		ACGGACCGTTCACTGTACAAC	0.488000														18			12		0	0	1	0	0
C18orf34	374864	broad.mit.edu	37	18	30950052	30950052	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr18:30950052G>A	uc010xbr.1	-	4	452	c.310C>T	c.(310-312)Caa>Taa	p.Q104*	C18orf34_uc002kxn.2_Nonsense_Mutation_p.Q104*|C18orf34_uc010dmf.1_Nonsense_Mutation_p.Q104*|C18orf34_uc002kxo.2_Nonsense_Mutation_p.Q104*|C18orf34_uc002kxp.3_Nonsense_Mutation_p.Q104*	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA.	104										NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2)	65						TCCACATCTTGGATGTGTGAA	0.393000														27			9		0	0	1	0	0
ANPEP	290	broad.mit.edu	37	15	90344760	90344760	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:90344760G>A	uc002bop.4	-	10	1940	c.1648C>T	c.(1648-1650)Ccg>Tcg	p.P550S		NM_001150	NP_001141	P15144	AMPN_HUMAN	Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA.	550	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)	GTGATGACCGGGAAGCCCATC	0.612000														134			26		0	0	1	0	0
FOXRED2	80020	broad.mit.edu	37	22	36897298	36897298	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:36897298G>A	uc003apn.4	-	3	1314	c.1206C>T	c.(1204-1206)ttC>ttT	p.F402F	FOXRED2_uc003apm.4_5'Flank|FOXRED2_uc003apo.4_Silent_p.F402F|FOXRED2_uc003app.4_Silent_p.F402F	NM_024955	NP_079231	Q8IWF2	FXRD2_HUMAN	Homo sapiens FAD-dependent oxidoreductase domain containing 2 (FOXRED2), transcript variant 1, mRNA.	402					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CTGTGTATCGGAATCCGTGGA	0.542000														45			25		0	0	1	0	0
PARS2	25973	broad.mit.edu	37	1	55224465	55224465	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:55224465G>A	uc021ont.1	-	0	370	c.370C>T	c.(370-372)Ccg>Tcg	p.P124S	PARS2_uc001cxy.3_Missense_Mutation_p.P124S	NM_152268	NP_689481	Q7L3T8	SYPM_HUMAN	Homo sapiens prolyl-tRNA synthetase 2, mitochondrial (putative) (PARS2), nuclear gene encoding mitochondrial protein, mRNA.	124					prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity			breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	AGCTCTGCCGGGCTGAGGCTG	0.577000														101			23		0	0	1	0	0
STIM2	57620	broad.mit.edu	37	4	27004568	27004568	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:27004568G>A	uc003gsg.4	+	6	1351	c.823G>A	c.(823-825)Gaa>Aaa	p.E275K	STIM2_uc003gsh.4_Missense_Mutation_p.E275K|STIM2_uc010iex.3_Missense_Mutation_p.E275K|STIM2_uc010iey.3_5'UTR	NM_020860	NP_065911	Q9P246	STIM2_HUMAN	Homo sapiens stromal interaction molecule 2 (STIM2), transcript variant 2, mRNA.	275					activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				GGCACAGGAAGAAAACAGAAA	0.328000														25			18		0	0	1	0	0
INPP5B	3633	broad.mit.edu	37	1	38355378	38355378	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:38355378G>A	uc001ccf.1	-	2	193	c.156C>T	c.(154-156)tcC>tcT	p.S52S	INPP5B_uc009vvk.1_Silent_p.S157S|INPP5B_uc001ccg.1_Silent_p.S216S|INPP5B_uc010oij.1_Non-coding_Transcript	NM_005540	NP_005531	P32019	I5P2_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 75kDa (INPP5B), nuclear gene encoding mitochondrial protein, mRNA.	296					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CAGTAATTTCGGACTTGGATT	0.388000														107			25		0	0	1	0	0
TXK	7294	broad.mit.edu	37	4	48136182	48136182	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:48136182G>A	uc003gxx.4	-	0	92	c.6C>T	c.(4-6)atC>atT	p.I2I	TXK_uc003gxy.1_Silent_p.I2I	NM_003328	NP_003319	P42681	TXK_HUMAN	Homo sapiens TXK tyrosine kinase (TXK), mRNA.	2						cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						AGGAGGAAAGGATCATGGTAG	0.448000														53			14		0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75954357	75954357	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:75954357C>T	uc003kek.3	+	20	2616	c.2394C>T	c.(2392-2394)ttC>ttT	p.F798F	IQGAP2_uc010izv.2_Silent_p.F351F|IQGAP2_uc011csv.2_Silent_p.F294F|IQGAP2_uc003kel.3_Silent_p.F294F	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA.	798					small GTPase mediated signal transduction	actin cytoskeleton	GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding	p.D797E(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		ATTTGGATTTCCAGGAGGAAC	0.438000														30			17		0	0	1	0	0
XIAP	331	broad.mit.edu	37	X	123019668	123019668	+	Silent	SNP	T	C	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:123019668T>C	uc010nqu.3	+	1	282	c.156T>C	c.(154-156)ttT>ttC	p.F52F	XIAP_uc004etx.3_Silent_p.F52F|XIAP_uc010nqv.3_Intron	NM_001204401	NP_001191330	P98170	XIAP_HUMAN	Homo sapiens X-linked inhibitor of apoptosis (XIAP), transcript variant 2, mRNA.	52					anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						GAGCAGGGTTTCTTTATACTG	0.413000									X-linked Lymphoproliferative syndrome					21			34		0	0	1	0	0
OR12D3	81797	broad.mit.edu	37	6	29342195	29342195	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:29342195G>A	uc003nme.3	-	0	874	c.870C>T	c.(868-870)acC>acT	p.T290T		NM_030959	NP_112221	Q9UGF7	O12D3_HUMAN	Homo sapiens olfactory receptor, family 12, subfamily D, member 3 (OR12D3), mRNA.	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						TGTTCCTAAGGGTGTAGATTA	0.453000														81			42		0	0	1	0	0
FHDC1	85462	broad.mit.edu	37	4	153864408	153864408	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:153864408C>T	uc003inf.2	+	0	274	c.199C>T	c.(199-201)Cct>Tct	p.P67S		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	67					actin cytoskeleton organization		actin binding		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)					ACCTCCACTTCCTGGGGAGCC	0.592000														14			9		0	0	1	0	0
KIAA0930	23313	broad.mit.edu	37	22	45599849	45599849	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:45599849G>A	uc003bfv.1	-	4	747	c.561C>T	c.(559-561)acC>acT	p.T187T	KIAA0930_uc003bfx.1_Silent_p.T178T|KIAA0930_uc010gzw.1_Silent_p.T30T|KIAA0930_uc003bfw.1_Silent_p.T183T|KIAA0930_uc010gzx.2_Silent_p.T160T|MIR1249_uc021wrh.1_5'Flank	NM_001009880	NP_001009880	Q6ICG6	K0930_HUMAN	Homo sapiens KIAA0930 (KIAA0930), transcript variant 2, mRNA.	178							protein binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						CTTCCCCTACGGTCATGTCGC	0.612000														80			18		0	0	1	0	0
TRHR	7201	broad.mit.edu	37	8	110100064	110100064	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:110100064G>A	uc003ymz.4	+	0	412	c.323G>A	c.(322-324)gGa>gAa	p.G108E		NM_003301	NP_003292	P34981	TRFR_HUMAN	Homo sapiens thyrotropin-releasing hormone receptor (TRHR), mRNA.	108						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			CAGTATTTGGGAATTAATGCA	0.463000														54			14		0	0	1	0	0
MRPL49	740	broad.mit.edu	37	11	64891988	64891988	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:64891988C>T	uc001oda.2	+	1	196	c.93C>T	c.(91-93)ggC>ggT	p.G31G	FAU_uc001ocx.3_5'Flank|MRPL49_uc021qle.1_Non-coding_Transcript|MRPL49_uc021qlf.1_Intron	NM_004927	NP_004918	Q13405	RM49_HUMAN	Homo sapiens mitochondrial ribosomal protein L49 (MRPL49), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	31					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			endometrium(1)|ovary(1)	2						AGACCCAGGGCCCTCCAGATT	0.483000														44			24		0	0	1	0	0
C19orf21	126353	broad.mit.edu	37	19	757699	757699	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:757699G>A	uc002lpo.3	+	1	836	c.753G>A	c.(751-753)gtG>gtA	p.V251V		NM_173481	NP_775752	Q8IVT2	CS021_HUMAN	Homo sapiens chromosome 19 open reading frame 21 (C19orf21), mRNA.	251										breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)		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)		AGCCCCAGGTGAAGGGGGTGG	0.657000														17			6		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76490720	76490720	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:76490720G>A	uc010dhp.2	-	39	6350	c.6225C>T	c.(6223-6225)ttC>ttT	p.F2075F	AK127460_uc002jvt.1_5'Flank	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)			CCAGAGCCGGGAAGAGGTCCC	0.597000														181			45		0	0	1	0	0
C1orf127	148345	broad.mit.edu	37	1	11008568	11008568	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:11008568C>T	uc010oao.2	-	11	1624	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K	C1orf127_uc001ars.2_Missense_Mutation_p.E377K|C1orf127_uc001arr.2_Missense_Mutation_p.E385K	NM_001170754	NP_001164225	B7ZLG7	B7ZLG7_HUMAN	Homo sapiens chromosome 1 open reading frame 127 (C1orf127), mRNA.	393										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		CCTAGACCTTCAGTCAGGGTG	0.607000														40			24		0	0	1	0	0
PIWIL1	9271	broad.mit.edu	37	12	130841494	130841494	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:130841494C>T	uc001uik.3	+	12	1707	c.1436C>T	c.(1435-1437)tCc>tTc	p.S479F	PIWIL1_uc001uij.2_Missense_Mutation_p.S479F	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	Homo sapiens piwi-like 1 (Drosophila) (PIWIL1), transcript variant 1, mRNA.	479					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	P granule|chromatoid body	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GCAGATTGGTCCAAAGAAACA	0.373000														42			9		0	0	1	0	0
KCNA10	3744	broad.mit.edu	37	1	111061056	111061056	+	Silent	SNP	C	T	T	rs34454042		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:111061056C>T	uc001dzt.1	-	0	742	c.354G>A	c.(352-354)agG>agA	p.R118R		NM_005549	NP_005540	Q16322	KCA10_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 10 (KCNA10), mRNA.	118						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		AGAACTGCATCCTTTTTTCCC	0.463000														53			14		0	0	1	0	0
abParts	0	broad.mit.edu	37	22	22749788	22749788	+	RNA	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:22749788G>A	uc021wml.1	+	56		c.6472G>A								Parts of antibodies, mostly variable regions.																		CTGAGGACGAGGCTGAGTATT	0.562000														51			19		0	0	1	0	0
LIPA	3988	broad.mit.edu	37	10	90988067	90988067	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:90988067G>A	uc001kgc.4	-	2	593	c.303C>T	c.(301-303)ttC>ttT	p.F101F	LIPA_uc001kgb.4_Silent_p.F50F|LIPA_uc001kga.4_Silent_p.F106F|LIPA_uc009xtq.3_Silent_p.F106F	NM_001127605	NP_001121077	P38571	LICH_HUMAN	Homo sapiens lipase A, lysosomal acid, cholesterol esterase (LIPA), transcript variant 1, mRNA.	106					lipid catabolic process	lysosome	lipase activity|sterol esterase activity			endometrium(1)|large_intestine(2)|lung(3)	6		Colorectal(252;0.0162)		GBM - Glioblastoma multiforme(2;0.00406)		CAGCAAGAATGAAGCCCAGGC	0.473000														68			17		0	0	1	0	0
ZFP41	286128	broad.mit.edu	37	8	144332051	144332051	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:144332051C>T	uc003yxw.3	+	1	396	c.38C>T	c.(37-39)aCc>aTc	p.T13I	ZFP41_uc003yxv.3_Non-coding_Transcript|ZFP41_uc022bcg.1_Missense_Mutation_p.T13I	NM_173832	NP_776193	Q8N8Y5	ZFP41_HUMAN	Homo sapiens zinc finger protein 41 homolog (mouse) (ZFP41), mRNA.	13					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			AAGACGCCGACCCCAAGGGAG	0.602000														9			5		0	0	1	0	0
OR2B2	81697	broad.mit.edu	37	6	27879792	27879792	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:27879792G>A	uc011dkw.2	-	0	383	c.306C>T	c.(304-306)ttC>ttT	p.F102F		NM_033057	NP_149046	Q9GZK3	OR2B2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 2 (OR2B2), mRNA.	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						CCAGGAAAATGAAAAGCTGGG	0.448000														25			21		0	0	1	0	0
NCF2	4688	broad.mit.edu	37	1	183559354	183559354	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:183559354G>A	uc001gqj.4	-	0	386	c.111C>T	c.(109-111)tcC>tcT	p.S37S	NCF2_uc010pod.2_Silent_p.S37S|NCF2_uc010poe.2_Silent_p.S37S|NCF2_uc001gqk.4_Silent_p.S37S	NM_000433	NP_001121123	P19878	NCF2_HUMAN	Homo sapiens neutrophil cytosolic factor 2 (NCF2), transcript variant 1, mRNA.	37					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding	p.S37F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						AGCAAATCCGGGAGTGGGGGT	0.577000														136			105		0	0	1	0	0
POLD1	5424	broad.mit.edu	37	19	50905565	50905565	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:50905565C>T	uc010eny.3	+	4	694	c.693C>T	c.(691-693)atC>atT	p.I231I	POLD1_uc002psb.4_Silent_p.I231I|POLD1_uc002psc.4_Silent_p.I231I|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.	231					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)		AACAGGGCATCCGTGTGGCAG	0.697000								DNA polymerases (catalytic subunits)						39			20		0	0	1	0	0
BIRC2	329	broad.mit.edu	37	11	102239042	102239042	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:102239042C>T	uc001pgy.3	+	5	2528	c.1129C>T	c.(1129-1131)Cat>Tat	p.H377Y	BIRC2_uc010ruq.2_Missense_Mutation_p.H328Y|BIRC2_uc010rur.2_Missense_Mutation_p.H377Y	NM_001166	NP_001157	Q13490	BIRC2_HUMAN	Homo sapiens baculoviral IAP repeat containing 2 (BIRC2), mRNA.	377					cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	CD40 receptor complex|cytosol|internal side of plasma membrane	protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		AATAGTTATTCATTTTGGACC	0.343000														35			14		0	0	1	0	0
LPAL2	80350	broad.mit.edu	37	6	160913840	160913840	+	RNA	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:160913840G>A	uc003qtj.2	-	2		c.481C>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)		TCTAGGCTTGGAACTGGGATA	0.493000														54			20		0	0	1	0	0
LRRC52	440699	broad.mit.edu	37	1	165533023	165533023	+	Nonsense_Mutation	SNP	C	T	T	rs144838654	byFrequency	TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:165533023C>T	uc001gde.2	+	1	960	c.904C>T	c.(904-906)Cag>Tag	p.Q302*	LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.3_Intron	NM_001005214	NP_001005214	Q8N7C0	LRC52_HUMAN	Homo sapiens leucine rich repeat containing 52 (LRRC52), mRNA.	302						integral to membrane				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					TTTTCAAACCCAGACGAGCTC	0.567000														64			19		0	0	1	0	0
OR13C4	138804	broad.mit.edu	37	9	107288614	107288614	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:107288614G>A	uc011lvn.2	-	0	877	c.877C>T	c.(877-879)Ccc>Tcc	p.P293S		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 4 (OR13C4), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						TAGATTATGGGGTTTAACATG	0.408000														22			16		0	0	1	0	0
OR10S1	219873	broad.mit.edu	37	11	123847694	123847694	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:123847694G>A	uc001pzm.1	-	0	705	c.705C>T	c.(703-705)atC>atT	p.I235I		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily S, member 1 (OR10S1), mRNA.	235					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)		CAGCTGCCACGATGAAGATGT	0.592000														8			20		0	0	1	0	0
LRRC1	55227	broad.mit.edu	37	6	53785517	53785517	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:53785517C>T	uc003pcd.1	+	12	1895	c.1374C>T	c.(1372-1374)atC>atT	p.I458I		NM_018214	NP_060684	Q9BTT6	LRRC1_HUMAN	Homo sapiens leucine rich repeat containing 1 (LRRC1), mRNA.	458						cytoplasm|membrane				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		TCAGTGCGATCCGATTTGTGG	0.453000														27			15		0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35541160	35541160	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:35541160G>A	uc003xjr.2	+	4	994	c.666G>A	c.(664-666)cgG>cgA	p.R222R	UNC5D_uc003xjs.2_Silent_p.R217R|UNC5D_uc003xjt.1_5'UTR	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	222	Ig-like C2-type.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GGCAGGCACGGCTCTCGGACT	0.512000														25			4		0	0	1	0	0
DCD	117159	broad.mit.edu	37	12	55039412	55039413	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:55039412_55039413CC>TT	uc001sgj.3	-	2	238_239	c.176_177GG>AA	c.(175-177)agg>aAA	p.R59K	DCD_uc009znt.3_Missense_Mutation_p.R59K|DCD_uc009znu.3_Non-coding_Transcript	NM_053283	NP_444513	P81605	DCD_HUMAN	Homo sapiens dermcidin (DCD), mRNA.	59					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	protein binding			large_intestine(2)|lung(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(1001;0.0255)				ATCTCTGCTTCCTTGGCTTTGG	0.515000														40			7		0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69934077	69934077	+	Missense_Mutation	SNP	C	A	A	rs138583865	byFrequency	TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:69934077C>A	uc001jnm.4	+	11	2413	c.2228C>A	c.(2227-2229)cCg>cAg	p.P743Q	MYPN_uc001jnn.4_Missense_Mutation_p.P468Q|MYPN_uc001jno.4_Missense_Mutation_p.P743Q|MYPN_uc009xpt.3_Missense_Mutation_p.P743Q|MYPN_uc010qit.2_Missense_Mutation_p.P449Q|MYPN_uc010qiu.2_Non-coding_Transcript	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	Homo sapiens myopalladin (MYPN), transcript variant 1, mRNA.	743						nucleus|sarcomere	actin binding	p.P743P(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						TCCAGCTCTCCGGTGTTCACT	0.537000														81			29		8.16721e-17	8.30708e-17	1	1	0
CPZ	8532	broad.mit.edu	37	4	8621162	8621162	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:8621162C>T	uc003glm.3	+	10	1951	c.1777C>T	c.(1777-1779)Cat>Tat	p.H593Y	CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Missense_Mutation_p.H582Y|CPZ_uc003gln.3_Missense_Mutation_p.H456Y	NM_001014447	NP_001014448	Q66K79	CBPZ_HUMAN	Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA.	593					Wnt receptor signaling pathway|proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	p.H593Y(2)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GAACTTTATTCATGGGCTGCG	0.637000														26			28		0	0	1	0	0
SCGN	10590	broad.mit.edu	37	6	25689736	25689736	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:25689736G>A	uc003nfb.3	+	8	812	c.609G>A	c.(607-609)gaG>gaA	p.E203E	SCGN_uc010jpz.3_Silent_p.E94E	NM_006998	NP_008929	O76038	SEGN_HUMAN	Homo sapiens secretagogin, EF-hand calcium binding protein (SCGN), mRNA.	203	EF-hand 5.					extracellular region|transport vesicle membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GGGACTTTGAGAAAATCTTTG	0.398000														125			29		0	0	1	0	0
CDK3	1018	broad.mit.edu	37	17	73999323	73999323	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:73999323C>T	uc002jqg.4	+	8	2472	c.720C>T	c.(718-720)ctC>ctT	p.L240L	CDK3_uc010dgt.3_Silent_p.L212L	NM_001258	NP_001249	Q00526	CDK3_HUMAN	Homo sapiens cyclin-dependent kinase 3 (CDK3), mRNA.	212	Protein kinase.				cell division|cell proliferation|mitosis		ATP binding|cyclin-dependent protein kinase activity			central_nervous_system(1)	1						TTGACCAGCTCTTTCGTATCT	0.532000														214			169		0	0	1	0	0
GADL1	339896	broad.mit.edu	37	3	30875362	30875362	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:30875362G>A	uc003cep.2	-	10	1080	c.1033C>T	c.(1033-1035)Ctt>Ttt	p.L345F	GADL1_uc003ceq.1_Missense_Mutation_p.L345F	NM_207359	NP_997242	Q6ZQY3	GADL1_HUMAN	Homo sapiens glutamate decarboxylase-like 1 (GADL1), mRNA.	345					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25					Pyridoxal Phosphate(DB00114)	TCTTTCACAAGGAGAGCACAG	0.493000														18			17		0	0	1	0	0
STAG1	10274	broad.mit.edu	37	3	136221611	136221611	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:136221611G>A	uc003era.1	-	7	979	c.687C>T	c.(685-687)ctC>ctT	p.L229L	STAG1_uc003erb.1_Silent_p.L229L|STAG1_uc003erc.1_Silent_p.L3L|STAG1_uc010hua.1_Silent_p.L92L	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	Homo sapiens stromal antigen 1 (STAG1), mRNA.	229					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						GAGCAGTCATGAGCTTCATGG	0.333000														29			9		0	0	1	0	0
NCF1C	654817	broad.mit.edu	37	7	74578769	74578769	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:74578769C>T	uc003ubv.3	-	5	574	c.435G>A	c.(433-435)aaG>aaA	p.K145K	NCF1C_uc011kfn.2_Silent_p.K145K|NCF1C_uc011kfo.2_Silent_p.K143K					Homo sapiens neutrophil cytosolic factor 1C pseudogene (NCF1C), non-coding RNA.																		AGCCCGAGGTCTTCTCGTAGT	0.657000														57			42		0	0	1	0	0
LRTM1	57408	broad.mit.edu	37	3	54958874	54958874	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:54958874C>T	uc003dhl.3	-	1	510	c.376G>A	c.(376-378)Gag>Aag	p.E126K	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.	126						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)		AAATCAAGCTCCCTCAGCTGA	0.463000														37			19		0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220337806	220337806	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:220337806C>T	uc010fwg.3	+	15	4135	c.4135C>T	c.(4135-4137)Ctg>Ttg	p.L1379L		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	1379					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	p.L1379L(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCCTGTGCAGCTGCTGGAGCA	0.662000														16			10		0	0	1	0	0
GBA3	57733	broad.mit.edu	37	4	22749428	22749428	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:22749428G>A	uc003gqp.4	+	2	887	c.796G>A	c.(796-798)Gaa>Aaa	p.E266K	GBA3_uc010iep.3_Intron|GBA3_uc011bxo.2_Missense_Mutation_p.E267K	NM_020973	NP_066024	Q9H227	GBA3_HUMAN	Homo sapiens glucosidase, beta, acid 3 (cytosolic) (GBA3), transcript variant 1, mRNA.	266					glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TGATTATCCTGAAGTTGTCAA	0.423000														24			18		0	0	1	0	0
KCNJ16	3773	broad.mit.edu	37	17	68128918	68128918	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:68128918G>A	uc002jiq.3	+	2	926	c.786G>A	c.(784-786)agG>agA	p.R262R	KCNJ16_uc002jin.3_Silent_p.R230R|KCNJ16_uc002jio.3_Silent_p.R230R|KCNJ16_uc002jip.3_Silent_p.R230R|KCNJ16_uc021uch.1_Silent_p.R230R	NM_170742	NP_733938	Q9NPI9	IRK16_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 16 (KCNJ16), transcript variant 3, mRNA.	230					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					GTGAAGGGAGGATGACGATGG	0.473000														76			21		0	0	1	0	0
ELAVL3	1995	broad.mit.edu	37	19	11565405	11565406	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:11565405_11565406CC>TT	uc002mry.1	-	6	1419_1420	c.1039_1040GG>AA	c.(1039-1041)ggc>AAc	p.G347N	ELAVL3_uc002mrx.1_Missense_Mutation_p.G340N	NM_001420	NP_001411	Q14576	ELAV3_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C) (ELAVL3), transcript variant 1, mRNA.	347	RRM 3.				cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						CAGGCGATAGCCGTTCAGGCTG	0.634000														38			15		0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12666901	12666901	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:12666901C>T	uc002gno.2	+	13	3200	c.2901C>T	c.(2899-2901)ttC>ttT	p.F967F	MYOCD_uc002gnn.2_Silent_p.F919F|MYOCD_uc002gnq.2_Silent_p.F643F	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	919					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)		ACATCGATTTCCTGGATGTCA	0.517000														20			9		0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51174373	51174373	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:51174373G>A	uc021tif.1	-	1	1791	c.1469C>T	c.(1468-1470)cCc>cTc	p.P490L	SALL1_uc021tid.1_Missense_Mutation_p.P490L|SALL1_uc021tie.1_Missense_Mutation_p.P587L|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	587					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGAGCCTGGGGGGCTGGTGGC	0.627000														16			15		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131832678	131832678	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:131832678C>T	uc003vra.4	-	26	5074	c.4845G>A	c.(4843-4845)agG>agA	p.R1615R	PLXNA4_uc003vqz.4_5'Flank	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1615						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TTGCTGAGGTCCTGGAGACGG	0.537000														60			18		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	62149192	62149192	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:62149192C>T	uc001jky.3	-	0	443	c.105G>A	c.(103-105)cgG>cgA	p.R35R	ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jlb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	35					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						CCTTTTTCTTCCGATCCCGGG	0.398000														34			33		0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33136303	33136303	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:33136303C>T	uc003ocx.1	-	53	4181	c.3953G>A	c.(3952-3954)gGa>gAa	p.G1318E	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.G1232E|COL11A2_uc003ocz.1_Missense_Mutation_p.G1211E	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	1318	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TACTCGCTTTCCAAGTGGCCC	0.637000														47			10		0	0	1	0	0
OR4K17	390436	broad.mit.edu	37	14	20586509	20586509	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:20586509C>T	uc001vwo.1	+	0	944	c.944C>T	c.(943-945)cCa>cTa	p.P315L		NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 17 (OR4K17), mRNA.	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P315Q(2)		kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		ATCTTGAATCCAATTATCTAT	0.348000														11			7		0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33570325	33570325	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:33570325C>T	uc002xbi.2	+	9	1034	c.717C>T	c.(715-717)gtC>gtT	p.V239V		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	197	Myosin head-like.					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)			TTGCCATCGTCGCTGCCCTGG	0.567000														44			12		0	0	1	0	0
NRXN2	9379	broad.mit.edu	37	11	64416264	64416264	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:64416264G>A	uc021qkw.1	-	15	3687	c.3225C>T	c.(3223-3225)ctC>ctT	p.L1075L	NRXN2_uc021qkx.1_Silent_p.L1035L|NRXN2_uc001oas.3_Silent_p.L1035L|NRXN2_uc001oaq.3_Silent_p.L742L	NM_015080	NP_055895	Q9P2S2	NRX2A_HUMAN	Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA.	1075	Laminin G-like 5.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TGAGGTCTGGGAGACGTCCGT	0.632000														62			21		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216371671	216371671	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:216371671C>T	uc001hku.1	-	17	4454	c.4067G>A	c.(4066-4068)aGa>aAa	p.R1356K	USH2A_uc001hkv.3_Missense_Mutation_p.R1356K	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	1356	Fibronectin type-III 3.				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)		TTCTCCCGTTCTTTCTGAGAC	0.393000										HNSCC(13;0.011)				40			36		0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119937894	119937894	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:119937894G>A	uc001txe.3	+	5	1034	c.569G>A	c.(568-570)gGa>gAa	p.G190E	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	190										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GACCCGGGTGGAAGCAAGAGC	0.423000														70			22		0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94943183	94943183	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:94943183G>A	uc002btj.3	+	14	1989	c.1924G>A	c.(1924-1926)Gaa>Aaa	p.E642K	MCTP2_uc010boj.3_Missense_Mutation_p.E371K|MCTP2_uc010bok.3_Missense_Mutation_p.E642K|MCTP2_uc002btk.4_Missense_Mutation_p.E230K|MCTP2_uc002btl.3_Missense_Mutation_p.E230K	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	642					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	p.R641R(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TACTCCCCGGGAAAAGCGCTT	0.458000														99			20		0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99641339	99641339	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:99641339C>T	uc001yga.3	-	3	2101	c.1834G>A	c.(1834-1836)Gag>Aag	p.E612K	BCL11B_uc001ygb.3_Missense_Mutation_p.E541K	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.	612	Gly-rich.					nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GCCAGGAGCTCGCCGTACTGC	0.756000			T	TLX3	T-ALL									28			11		0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12125274	12125274	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:12125274C>T	uc003nac.3	+	3	5425	c.5246C>T	c.(5245-5247)tCc>tTc	p.S1749F	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	1749					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AGGATGCTTTCCCCAGCAAAT	0.433000														81			17		0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70585230	70585230	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:70585230C>T	uc003xyl.3	-	9	3128	c.2421G>A	c.(2419-2421)gaG>gaA	p.E807E	SLCO5A1_uc010lzb.3_Silent_p.E752E|SLCO5A1_uc011lfa.2_Non-coding_Transcript|SLCO5A1_uc003xyk.3_3'UTR	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	807						integral to membrane|plasma membrane	transporter activity	p.E806*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GCAGGCCAGTCTCTTCGTGGA	0.592000														51			20		0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28849340	28849340	+	Missense_Mutation	SNP	G	A	A	rs145348249		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:28849340G>A	uc002rmb.2	+	50	3669	c.3625G>A	c.(3625-3627)Ggg>Agg	p.G1209R	PLB1_uc010ezj.2_Missense_Mutation_p.G1198R|PLB1_uc002rme.2_Missense_Mutation_p.G174R	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	1209	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					ACTCTTCATTGGGGTCAACGA	0.532000														19			11		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68965339	68965339	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:68965339C>T	uc003xxv.1	+	8	978	c.951C>T	c.(949-951)ttC>ttT	p.F317F	PREX2_uc003xxu.1_Silent_p.F317F|PREX2_uc011lez.1_Silent_p.F252F	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	317	PH.				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						CAGCTGATTTCCATAGCAGTG	0.323000														26			19		0	0	1	0	0
FBLN1	2192	broad.mit.edu	37	22	45959050	45959050	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:45959050G>A	uc010gzz.3	+	15	2217	c.2070G>A	c.(2068-2070)agG>agA	p.R690R	FBLN1_uc003bgh.3_Silent_p.R652R|FBLN1_uc003bgi.1_Intron|FBLN1_uc003bgj.1_Intron	NM_001996	NP_001987	P23142	FBLN1_HUMAN	Homo sapiens fibulin 1 (FBLN1), transcript variant C, mRNA.	670					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CCGAGCCCAGGGACTTGCTCC	0.612000														77			13		0	0	1	0	0
PRKCSH	5589	broad.mit.edu	37	19	11558261	11558261	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:11558261C>T	uc010xlz.2	+	10	1193	c.857C>T	c.(856-858)cCc>cTc	p.P286L	PRKCSH_uc002mrt.3_Missense_Mutation_p.P286L|PRKCSH_uc002mru.3_Missense_Mutation_p.P286L|PRKCSH_uc002mrv.1_Missense_Mutation_p.P286L|PRKCSH_uc010dyb.3_Missense_Mutation_p.P286L	NM_002743	NP_002734	P14314	GLU2B_HUMAN	Homo sapiens protein kinase C substrate 80K-H (PRKCSH), transcript variant 1, mRNA.	286	EF-hand 2.				innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						CAGGCACTGCCCACCGACCTT	0.672000														17			5		0	0	1	0	0
OR2T3	343173	broad.mit.edu	37	1	248637290	248637290	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:248637290C>T	uc001iel.1	+	0	639	c.639C>T	c.(637-639)ctC>ctT	p.L213L		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 3 (OR2T3), mRNA.	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	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)			TCATGCTTCTCGCCCCCATCA	0.552000														27			100		0	0	1	0	0
FAM169A	26049	broad.mit.edu	37	5	74097447	74097447	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:74097447G>A	uc003kdm.3	-	8	963	c.920C>T	c.(919-921)tCt>tTt	p.S307F	FAM169A_uc010izm.3_Missense_Mutation_p.S247F|FAM169A_uc003kdl.3_Missense_Mutation_p.S125F	NM_015566	NP_056381	Q9Y6X4	F169A_HUMAN	Homo sapiens family with sequence similarity 169, member A (FAM169A), mRNA.	307										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						ATCTTTTAGAGAATCAATCTA	0.328000														24			11		0	0	1	0	0
HBG1	3047	broad.mit.edu	37	11	5275625	5275625	+	Missense_Mutation	SNP	G	A	A	rs151258456		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:5275625G>A	uc001mai.1	-	1	649	c.212C>T	c.(211-213)tCc>tTc	p.S71F	HBG1_uc001mak.1_Non-coding_Transcript|HBG1_uc001maj.1_Missense_Mutation_p.S71F	NM_000559	NP_000550	P69891	HBG1_HUMAN	Homo sapiens hemoglobin, gamma A (HBG1), mRNA.	71					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding	p.S71F(1)		large_intestine(1)|lung(3)|skin(1)	5		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)		ATCTCCCAAGGAAGTCAGCAC	0.532000														119			15		0	0	1	0	0
GAS2	2620	broad.mit.edu	37	11	22707215	22707215	+	Splice_Site	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:22707215G>A	uc009yie.3	+	3	452	c.146_splice	c.e3-1	p.G49_splice	GAS2_uc001mqm.3_Splice_Site_p.G49_splice|GAS2_uc001mqn.3_Splice_Site|GAS2_uc001mqo.3_Splice_Site_p.G49_splice	NM_001143830	NP_808221	O43903	GAS2_HUMAN	Homo sapiens growth arrest-specific 2 (GAS2), transcript variant 3, mRNA.	49	CH.				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						TTATTTCAGGGAAGGAGATTA	0.343000														49			15		0	0	1	0	0
F13A1	2162	broad.mit.edu	37	6	6182295	6182295	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:6182295C>A	uc003mwv.3	-	10	1508	c.1385G>T	c.(1384-1386)gGg>gTg	p.G462V	F13A1_uc011dib.2_Missense_Mutation_p.G399V	NM_000129	NP_000120	P00488	F13A_HUMAN	Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	462					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	AATTAATTTCCCAATGTGGGT	0.408000														47			10		4.68919e-08	4.72998e-08	1	1	0
KIR3DL2	3812	broad.mit.edu	37	19	55331329	55331329	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:55331329G>C	uc002qhl.4	+	3	580	c.517G>C	c.(517-519)Gat>Cat	p.D173H	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc021vbm.1_Missense_Mutation_p.D173H|KIR3DL2_uc010esf.3_Missense_Mutation_p.D78H|KIR3DL2_uc021vbo.1_Missense_Mutation_p.D173H|KIR3DL2_uc002qhk.4_Missense_Mutation_p.D173H			P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA.	173	Ig-like C2-type 2.				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		ACAGATCCATGATGGGGTCTC	0.507000														104			41		0	0	1	0	0
HNMT	3176	broad.mit.edu	37	2	138759652	138759652	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:138759652C>T	uc002tvf.3	+	3	571	c.317C>T	c.(316-318)tCg>tTg	p.S106L		NM_006895	NP_008826	P50135	HNMT_HUMAN	Homo sapiens histamine N-methyltransferase (HNMT), transcript variant 1, mRNA.	106					respiratory gaseous exchange	cytoplasm	histamine N-methyltransferase activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.125)	Amodiaquine(DB00613)|Histamine Phosphate(DB00667)|Quinacrine(DB01103)	GCCAAGACATCGAACCTCGAG	0.363000														18			14		0	0	1	0	0
KIAA0195	9772	broad.mit.edu	37	17	73486351	73486351	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:73486351C>T	uc010wsa.2	+	8	1213	c.1021C>T	c.(1021-1023)Cca>Tca	p.P341S	KIAA0195_uc002jnz.4_Missense_Mutation_p.P331S|KIAA0195_uc010wsb.2_5'UTR	NM_014738	NP_055553	Q12767	K0195_HUMAN	Homo sapiens KIAA0195 (KIAA0195), mRNA.	331					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCTGCTCTTTCCAGTCCTCTG	0.632000														138			30		0	0	1	0	0
APOL3	80833	broad.mit.edu	37	22	36537946	36537946	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:36537946G>A	uc003aot.3	-	2	549	c.511C>T	c.(511-513)Cgt>Tgt	p.R171C	APOL3_uc003aoq.3_Missense_Mutation_p.R100C|APOL3_uc003aor.3_Missense_Mutation_p.R100C|APOL3_uc003aos.3_Missense_Mutation_p.R100C|APOL3_uc003aou.3_5'UTR|APOL3_uc003aov.3_5'UTR|APOL3_uc021wol.1_5'Flank	NM_145640	NP_663617	O95236	APOL3_HUMAN	Homo sapiens apolipoprotein L, 3 (APOL3), transcript variant alpha/d, mRNA.	171					inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity			endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						GCAAGGGCACGAAGCTTTTCT	0.502000														71			18		0	0	1	0	0
RFX6	222546	broad.mit.edu	37	6	117244292	117244292	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:117244292C>T	uc003pxm.3	+	13	1523	c.1460C>T	c.(1459-1461)tCa>tTa	p.S487L		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	487					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						AATGGAAGGTCATTAAAGAAG	0.368000														23			23		0	0	1	0	0
BCAM	4059	broad.mit.edu	37	19	45322338	45322338	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:45322338A>T	uc002ozu.3	+	10	1406	c.1362A>T	c.(1360-1362)gaA>gaT	p.E454D	BCAM_uc002ozt.1_Missense_Mutation_p.E454D	NM_005581	NP_005572	P50895	BCAM_HUMAN	Homo sapiens basal cell adhesion molecule (Lutheran blood group) (BCAM), transcript variant 1, mRNA.	454	Ig-like C2-type 3.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity	p.A453A(1)		central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				AGACAGCGGAAATAGAGCCCA	0.572000														120			48		0	0	1	0	0
CCDC102B	79839	broad.mit.edu	37	18	66678234	66678234	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr18:66678234G>A	uc002lkk.2	+	8	1550	c.1327G>A	c.(1327-1329)Gaa>Aaa	p.E443K	CCDC102B_uc002lki.2_Missense_Mutation_p.E443K	NM_001093729	NP_079057	Q68D86	C102B_HUMAN	Homo sapiens coiled-coil domain containing 102B (CCDC102B), transcript variant 1, mRNA.	443								p.E443*(2)		breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				AAATATTGCAGAACTGACTCA	0.343000														9			10		0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48267915	48267915	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:48267915G>A	uc002iqm.3	-	33	2512	c.2386C>T	c.(2386-2388)Cgt>Tgt	p.R796C		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	796	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	GGGGCACCACGAGCTCCAGTG	0.602000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							168			26		0	0	1	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	155490	155490	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:155490G>A	uc003jak.2	+	6	1122	c.1072G>A	c.(1072-1074)Gaa>Aaa	p.E358K		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	358					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		AAACTGTGAAGAAGCCATCAT	0.458000														69			17		0	0	1	0	0
OR52E2	119678	broad.mit.edu	37	11	5080082	5080082	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:5080082G>A	uc010qyw.2	-	0	776	c.776C>T	c.(775-777)tCc>tTc	p.S259F		NM_001005164	NP_001005164	Q8NGJ4	O52E2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 2 (OR52E2), mRNA.	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		AGTCATAAAGGAAAAGAGGGC	0.473000														27			15		0	0	1	0	0
DEFB121	245934	broad.mit.edu	37	20	29993905	29993905	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:29993905G>A	uc002wvv.2	-	0	165	c.51C>T	c.(49-51)gtC>gtT	p.V17V	DEFB121_uc021wbq.1_Intron	NM_001011878	NP_001011878	Q5J5C9	DB121_HUMAN	Homo sapiens defensin, beta 121 (DEFB121), transcript variant 1, mRNA.	17					defense response to bacterium	extracellular region				large_intestine(1)|lung(1)	2	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TACCTGGGGTGACCTGGGCCA	0.507000														25			12		0	0	1	0	0
ZNF43	7594	broad.mit.edu	37	19	21990741	21990741	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:21990741G>A	uc002nqj.3	-	3	2228	c.2098C>T	c.(2098-2100)Cat>Tat	p.H700Y	ZNF43_uc002nql.3_Missense_Mutation_p.H694Y|ZNF43_uc002nqm.3_Missense_Mutation_p.H694Y|ZNF43_uc010ecv.3_Missense_Mutation_p.H694Y|ZNF43_uc002nqk.3_Missense_Mutation_p.H630Y	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	700					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TCTCCAGTATGAATAATCTTA	0.353000														20			7		0	0	1	0	0
PMM1	5372	broad.mit.edu	37	22	41974862	41974862	+	Silent	SNP	G	A	A	rs999980		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:41974862G>A	uc003bal.2	-	5	560	c.498C>T	c.(496-498)ttC>ttT	p.F166F		NM_002676	NP_002667	Q92871	PMM1_HUMAN	Homo sapiens phosphomannomutase 1 (PMM1), mRNA.	166					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	p.F166F(2)		NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2)	11						GGGCTTCCACGAACTTCTCCC	0.617000														32			11		0	0	1	0	0
SHC3	53358	broad.mit.edu	37	9	91793242	91793242	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:91793242G>A	uc004aqf.2	-	0	441	c.134C>T	c.(133-135)cCc>cTc	p.P45L		NM_016848	NP_058544	Q92529	SHC3_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) transforming protein 3 (SHC3), mRNA.	45					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						CACCAAGTAGGGAgccgccgc	0.697000														12			11		0	0	1	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1812849	1812849	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:1812849C>T	uc010uvl.2	+	15	1860	c.1740C>T	c.(1738-1740)ctC>ctT	p.L580L	MAPK8IP3_uc002cmk.3_Silent_p.L579L|MAPK8IP3_uc002cml.3_Silent_p.L569L|MAPK8IP3_uc021tah.1_Silent_p.L573L	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 3 (MAPK8IP3), transcript variant 1, mRNA.	579					vesicle-mediated transport	Golgi membrane	MAP-kinase scaffold activity|kinesin binding|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						TCAGCCGCCTCTTCAGCTCTT	0.672000														80			34		0	0	1	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123199634	123199634	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:123199634G>A	uc004bkf.3	-	24	4075	c.3894C>T	c.(3892-3894)ttC>ttT	p.F1298F	CDK5RAP2_uc010mvi.3_Silent_p.F307F|CDK5RAP2_uc004bke.3_Silent_p.F583F|CDK5RAP2_uc004bkg.3_Silent_p.F1298F|CDK5RAP2_uc011lxw.2_Silent_p.F563F|CDK5RAP2_uc011lxx.2_Non-coding_Transcript|CDK5RAP2_uc011lxy.2_Non-coding_Transcript|CDK5RAP2_uc011lxz.2_Silent_p.F563F|CDK5RAP2_uc011lya.2_Silent_p.F563F|CDK5RAP2_uc004bkh.1_Silent_p.F1068F|CDK5RAP2_uc004bki.3_Silent_p.F1065F	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 2 (CDK5RAP2), transcript variant 1, mRNA.	1298					G2/M transition of mitotic cell cycle|brain development|centrosome organization|chromosome segregation|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	Golgi apparatus|cytosol|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						GCTGTTCCTGGAAACCCTCGG	0.483000														27			7		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89398514	89398514	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:89398514G>A	uc010upo.1	+	11	3072	c.2698G>A	c.(2698-2700)Gac>Aac	p.D900N	ACAN_uc010upp.1_Missense_Mutation_p.D900N|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	900					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)			TGGAGACCTGGACTCCAGTGG	0.572000														60			10		0	0	1	0	0
OR5AK2	390181	broad.mit.edu	37	11	56757303	56757303	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:56757303G>A	uc010rjp.2	+	0	915	c.915G>A	c.(913-915)ggG>ggA	p.G305G		NM_001005323	NP_001005323	Q8NH90	O5AK2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA.	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						AAGTGATAGGGAAAAAGTTAT	0.303000														19			3		0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142479988	142479988	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:142479988C>T	uc011ksq.2	+	1	203	c.120C>T	c.(118-120)tcC>tcT	p.S40S	TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron|PRSS3P2_uc011ksr.1_Non-coding_Transcript					Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.																		ACCAGGTGTCCTTGAATTCTG	0.557000														142			50		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41186276	41186276	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:41186276C>T	uc003jmk.2	-	5	832	c.622G>A	c.(622-624)Gtc>Atc	p.V208I	C6_uc003jml.1_Missense_Mutation_p.V208I	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	208	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)				TTATCAAGGACTTCTCCTCTG	0.383000														42			10		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100346083	100346083	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:100346083C>T	uc003uwj.3	+	10	1404	c.1239C>T	c.(1237-1239)ttC>ttT	p.F413F	ZAN_uc003uwk.3_Silent_p.F413F|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	413	MAM 3.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CGGGAGGTTTCCCTAATGCAG	0.582000														12			8		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140736223	140736223	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:140736223C>T	uc003ljq.2	+	0	1456	c.1456C>T	c.(1456-1458)Cga>Tga	p.R486*	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljp.1_Nonsense_Mutation_p.R486*	NM_018917	NP_061740	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA.	488	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)			TGACAATGCCCGAATCACTTA	0.507000														95			31		0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1084320	1084320	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:1084320A>T	uc001lsx.1	+	18	2479	c.2452A>T	c.(2452-2454)Aag>Tag	p.K818*		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	818						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CGTGGTGGAGAAGGAATGCCC	0.612000														19			4		0	0	1	0	0
C14orf180	400258	broad.mit.edu	37	14	105054105	105054105	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:105054105C>T	uc001yow.1	+	2	432	c.131C>T	c.(130-132)cCc>cTc	p.P44L	C14orf180_uc010tyh.1_Missense_Mutation_p.P44L|C14orf180_uc010awy.1_Missense_Mutation_p.P44L	NM_001008404	NP_001008404	Q8N912	CN180_HUMAN	Homo sapiens chromosome 14 open reading frame 180 (C14orf180), mRNA.	44						integral to membrane							Melanoma(154;0.226)	all cancers(16;0.00405)|OV - Ovarian serous cystadenocarcinoma(23;0.0319)|Epithelial(46;0.0784)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.127)		AGGAAGTGCCCCCCCTCCATC	0.701000														5			14		0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					51			32		0	0	1	0	0
PID1	55022	broad.mit.edu	37	2	229890381	229890381	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:229890381C>T	uc002vpr.4	-	2	758	c.720G>A	c.(718-720)gaG>gaA	p.E240E	PID1_uc002vps.4_Silent_p.E238E|PID1_uc002vpt.4_Silent_p.E207E|PID1_uc002vpu.4_Silent_p.E158E	NM_001100818	NP_001094288	Q7Z2X4	PCLI1_HUMAN	Homo sapiens phosphotyrosine interaction domain containing 1 (PID1), transcript variant 2, mRNA.	240	PID.					cytoplasm		p.S240P(1)		breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		CCTGGGAAACCTCTTCGGAGG	0.522000														49			16		0	0	1	0	0
KRBA1	84626	broad.mit.edu	37	7	149417945	149417945	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:149417945C>T	uc003wfz.3	+	3	573	c.174C>T	c.(172-174)agC>agT	p.S58S	KRBA1_uc010lpj.3_Non-coding_Transcript|KRBA1_uc003wga.3_Non-coding_Transcript|KRBA1_uc003wgb.3_5'Flank	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	Homo sapiens KRAB-A domain containing 1 (KRBA1), mRNA.	58										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCGGCACAGCCTGCACCTCA	0.647000														9			3		0	0	1	0	0
PRDX1	5052	broad.mit.edu	37	1	45980212	45980212	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:45980212G>A	uc001coc.3	-	4	796	c.481C>T	c.(481-483)Cag>Tag	p.Q161*	PRDX1_uc001cob.3_Nonsense_Mutation_p.Q161*|PRDX1_uc001coa.3_Nonsense_Mutation_p.Q161*|PRDX1_uc021omw.1_Nonsense_Mutation_p.Q161*	NM_181696	NP_859048	Q06830	PRDX1_HUMAN	Homo sapiens peroxiredoxin 1 (PRDX1), transcript variant 2, mRNA.	161	Thioredoxin.				cell proliferation|cell redox homeostasis|hydrogen peroxide catabolic process|skeletal system development	melanosome|mitochondrion|nucleus	protein binding|thioredoxin peroxidase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	12	Acute lymphoblastic leukemia(166;0.155)					TGGAAGGCCTGAACTAGTCTC	0.493000														120			153		0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71415410	71415410	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:71415410G>A	uc010dfm.3	-	15	2081	c.2081C>T	c.(2080-2082)cCa>cTa	p.P694L	SDK2_uc010dfn.2_Missense_Mutation_p.P373L	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	694	Fibronectin type-III 2.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GACGTTCTGTGGAGGGGCCGT	0.562000														30			9		0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39265883	39265883	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr13:39265883C>T	uc001uwv.3	+	0	4711	c.4402C>T	c.(4402-4404)Cac>Tac	p.H1468Y		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	1468					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)		CATGCGAGGTCACCTGGAATG	0.478000														28			9		0	0	1	0	0
KIF6	221458	broad.mit.edu	37	6	39513431	39513431	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:39513431G>A	uc003oot.2	-	10	1310	c.1215C>T	c.(1213-1215)gaC>gaT	p.D405D	KIF6_uc010jxa.1_Silent_p.D196D|KIF6_uc011dua.1_Silent_p.D405D|KIF6_uc010jxb.1_Silent_p.D405D	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	Homo sapiens kinesin family member 6 (KIF6), mRNA.	405					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						CTGAATCCTGGTCTTCCAAAA	0.348000														80			15		0	0	1	0	0
TMEM62	80021	broad.mit.edu	37	15	43473391	43473391	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:43473391T>G	uc001zqr.3	+	12	1778	c.1499T>G	c.(1498-1500)tTt>tGt	p.F500C	TMEM62_uc010bda.3_Missense_Mutation_p.F335C	NM_024956	NP_079232	Q0P6H9	TMM62_HUMAN	Homo sapiens transmembrane protein 62 (TMEM62), mRNA.	500						integral to membrane				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		CCATGGTTTTTTGGTGAAATC	0.313000														169			21		0	0	1	0	0
GPR123	84435	broad.mit.edu	37	10	134942227	134942227	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:134942227G>A	uc001llw.3	+	15	3052	c.3052G>A	c.(3052-3054)Gga>Aga	p.G1018R	GPR123_uc001llx.4_Missense_Mutation_p.G299R			Q86SQ6	GP123_HUMAN	Homo sapiens G protein-coupled receptor 123 (GPR123), mRNA.	299						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CGTGACCCTGGGACTCTTCGT	0.672000														39			10		0	0	1	0	0
TRIM55	84675	broad.mit.edu	37	8	67086709	67086709	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:67086709G>A	uc003xvv.3	+	9	1754	c.1528G>A	c.(1528-1530)Gga>Aga	p.G510R	TRIM55_uc003xvu.3_Nonsense_Mutation_p.W539*|TRIM55_uc003xvw.3_Missense_Mutation_p.G414R|TRIM55_uc003xvx.3_Missense_Mutation_p.G203R	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA.	510						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)			ATTGCAGATTGGATTTGAGGC	0.453000														60			19		0	0	1	0	0
RBL1	5933	broad.mit.edu	37	20	35690558	35690558	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:35690558G>A	uc002xgi.3	-	7	1091	c.1012C>T	c.(1012-1014)Cgt>Tgt	p.R338C	RBL1_uc002xgj.1_Missense_Mutation_p.R338C|RBL1_uc010gfv.1_Non-coding_Transcript	NM_002895	NP_002886	P28749	RBL1_HUMAN	Homo sapiens retinoblastoma-like 1 (p107) (RBL1), transcript variant 1, mRNA.	338					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				GGGGTGTCACGAGTGAACTTT	0.428000														39			8		0	0	1	0	0
NPAS2	4862	broad.mit.edu	37	2	101582126	101582127	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:101582126_101582127CC>TT	uc010yvt.1	+	9	1002_1003	c.1000_1001CC>TT	c.(1000-1002)cct>TTt	p.P334F	NPAS2_uc002tap.1_Missense_Mutation_p.P269F	NM_002518	NP_002509	Q99743	NPAS2_HUMAN	Homo sapiens neuronal PAS domain protein 2 (NPAS2), mRNA.	269	PAC.				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			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						GTGCAGAGCACCTCCAATCATA	0.545000														52			14		0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20588678	20588678	+	Missense_Mutation	SNP	C	T	T	rs77996677		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:20588678C>T	uc001ytg.3	-	26	4092	c.3383G>A	c.(3382-3384)aGa>aAa	p.R1128K	HERC2P3_uc010tyx.1_Non-coding_Transcript					Homo sapiens hect domain and RLD 2 pseudogene 3 (HERC2P3), non-coding RNA.											central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						TGTAGTTCTTCTTCTCCAAAA	0.333000														61			11		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77377379	77377379	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:77377379G>A	uc004ajl.1	-	25	4446	c.4208C>T	c.(4207-4209)cCc>cTc	p.P1403L	TRPM6_uc004ajk.1_Missense_Mutation_p.P1398L|TRPM6_uc022bib.1_Missense_Mutation_p.P1398L|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.P359L	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1403					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CTTTTCCTTGGGTTCATCCAC	0.512000														38			23		0	0	1	0	0
ADH1A	124	broad.mit.edu	37	4	100201349	100201349	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:100201349G>A	uc003hur.2	-	6	1030	c.916C>T	c.(916-918)Cct>Tct	p.P306S	LOC100507053_uc003hum.2_Intron	NM_000667	NP_000658	P07327	ADH1A_HUMAN	Homo sapiens alcohol dehydrogenase 1A (class I), alpha polypeptide (ADH1A), mRNA.	306					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)	AGCAGCATAGGGTTCATTGAG	0.473000														91			47		0	0	1	0	0
SCRN2	90507	broad.mit.edu	37	17	45916994	45916994	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:45916994C>T	uc002imd.3	-	3	498	c.372G>A	c.(370-372)cgG>cgA	p.R124R	SCRN2_uc002imf.3_Silent_p.R124R	NM_138355	NP_612364	Q96FV2	SCRN2_HUMAN	Homo sapiens secernin 2 (SCRN2), transcript variant 1, mRNA.	124					proteolysis		dipeptidase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						CAGAGCTGCTCCGTTCCAAAG	0.607000														134			30		0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67079036	67079036	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:67079036G>A	uc002jhw.1	-	35	4769	c.4594C>T	c.(4594-4596)Cca>Tca	p.P1532S		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	1532					transport	integral to membrane	ATP binding|ATPase activity	p.P1532Q(1)|p.P1532L(1)		breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					GCAGCCTGTGGGAAAAGCTTC	0.438000														291			49		0	0	1	0	0
CCAR1	55749	broad.mit.edu	37	10	70525792	70525792	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:70525792C>T	uc001joo.3	+	16	2373	c.2254C>T	c.(2254-2256)Cta>Tta	p.L752L	CCAR1_uc001jol.1_Non-coding_Transcript|CCAR1_uc001jom.1_Silent_p.L557L|CCAR1_uc009xpx.1_Silent_p.L726L|CCAR1_uc001jon.1_Silent_p.L698L|CCAR1_uc010qiz.1_Silent_p.L737L|CCAR1_uc010qja.1_Silent_p.L737L|CCAR1_uc010qjb.2_Non-coding_Transcript	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN	Homo sapiens cell division cycle and apoptosis regulator 1 (CCAR1), mRNA.	752	Glu-rich.				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding	p.L752P(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						TTTGAGTGTCCTATTGGACTA	0.348000														51			12		0	0	1	0	0
ASB16	92591	broad.mit.edu	37	17	42255665	42255666	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:42255665_42255666GG>AA	uc002ifl.1	+	4	1353_1354	c.1269_1270GG>AA	c.(1267-1272)ttggga>ttAAga	p.G424R	ASB16_uc002ifm.1_Non-coding_Transcript|C17orf65_uc002ifn.3_Intron|C17orf65_uc021tyb.1_5'Flank	NM_080863	NP_543139	Q96NS5	ASB16_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 16 (ASB16), mRNA.	424	SOCS box.				intracellular signal transduction		protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GCGCTCGGTTGGGAAGCCGCTG	0.673000														27			11		0	0	1	0	0
XRN1	54464	broad.mit.edu	37	3	142123791	142123791	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:142123791G>A	uc003eus.3	-	15	1908	c.1841C>T	c.(1840-1842)cCa>cTa	p.P614L	XRN1_uc010huu.3_Missense_Mutation_p.P80L|XRN1_uc003eut.3_Missense_Mutation_p.P614L|XRN1_uc003euu.3_Missense_Mutation_p.P614L|XRN1_uc003euv.1_Missense_Mutation_p.P475L	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	Homo sapiens 5'-3' exoribonuclease 1 (XRN1), transcript variant 1, mRNA.	614					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	Golgi apparatus|cytosol|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|RNA binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TTCTGGCCATGGAGAAGGATA	0.418000														31			6		0	0	1	0	0
HNRNPUL1	11100	broad.mit.edu	37	19	41798325	41798325	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:41798325C>T	uc002oqb.4	+	7	1464	c.1175C>T	c.(1174-1176)tCt>tTt	p.S392F	HNRNPUL1_uc002opz.4_Missense_Mutation_p.S292F|HNRNPUL1_uc002oqa.4_Missense_Mutation_p.S292F|HNRNPUL1_uc010ehm.3_Missense_Mutation_p.S392F|HNRNPUL1_uc002oqc.4_Missense_Mutation_p.S278F|HNRNPUL1_uc002oqe.4_Intron|HNRNPUL1_uc002oqd.4_Missense_Mutation_p.S292F|HNRNPUL1_uc010ehn.3_Missense_Mutation_p.S292F|HNRNPUL1_uc010xvy.2_Missense_Mutation_p.S292F|HNRNPUL1_uc010ehp.3_Missense_Mutation_p.S248F|HNRNPUL1_uc010ehl.1_Missense_Mutation_p.S292F	NM_007040	NP_653333	Q9BUJ2	HNRL1_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein U-like 1 (HNRNPUL1), transcript variant 1, mRNA.	392	Necessary for interaction with TP53.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						CCCTACTGTTCTGTCCTCCCG	0.567000														33			15		0	0	1	0	0
RHOG	391	broad.mit.edu	37	11	3849110	3849110	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:3849110G>A	uc021qcn.1	-	0	259	c.259C>T	c.(259-261)Ccg>Tcg	p.P87S	RHOG_uc001lyu.2_Missense_Mutation_p.P87S	NM_001665	NP_001656	P84095	RHOG_HUMAN	Homo sapiens ras homolog gene family, member G (rho G) (RHOG), mRNA.	87					Rac protein signal transduction|Rho protein signal transduction|actin cytoskeleton organization|activation of Rac GTPase activity|axon guidance|cell chemotaxis|platelet activation|positive regulation of cell proliferation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of transcription, DNA-dependent	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(2)	2		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0349)|LUSC - Lung squamous cell carcinoma(625;0.194)		TAGGACGGCGGACTGGCAATG	0.592000														25			14		0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33143390	33143390	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:33143390C>T	uc003ocx.1	-	29	2565	c.2337G>A	c.(2335-2337)ccG>ccA	p.P779P	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Silent_p.P693P|COL11A2_uc003ocz.1_Silent_p.P672P	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	779	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GGTCTCCAGTCGGTCCAGTGC	0.647000														98			23		0	0	1	0	0
GLCE	26035	broad.mit.edu	37	15	69561262	69561262	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:69561262C>T	uc002ary.1	+	4	1761	c.1533C>T	c.(1531-1533)ggC>ggT	p.G511G		NM_015554	NP_056369	O94923	GLCE_HUMAN	Homo sapiens glucuronic acid epimerase (GLCE), mRNA.	511					heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						TTTTAAATGGCTTTATGTATT	0.383000														27			26		0	0	1	0	0
CORO1C	23603	broad.mit.edu	37	12	109055900	109055900	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:109055900G>A	uc009zva.3	-	3	561	c.512C>T	c.(511-513)tCc>tTc	p.S171F	CORO1C_uc001tnj.3_Missense_Mutation_p.S118F|CORO1C_uc010sxf.2_Missense_Mutation_p.S118F	NM_014325	NP_055140	Q9ULV4	COR1C_HUMAN	Homo sapiens coronin, actin binding protein, 1C (CORO1C), transcript variant 1, mRNA.	118					actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						TTCAGTCAGGGAAAGGGTGAG	0.488000														26			5		0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111441454	111441454	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:111441454G>A	uc003iab.4	+	9	2001	c.1659G>A	c.(1657-1659)aaG>aaA	p.K553K		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	553					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	p.K553N(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	ACGGTGTCAAGAACATCACAC	0.438000														32			13		0	0	1	0	0
RUNDC3B	154661	broad.mit.edu	37	7	87399966	87399966	+	Silent	SNP	T	G	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:87399966T>G	uc003ujb.3	+	7	1161	c.750T>G	c.(748-750)acT>acG	p.T250T	RUNDC3B_uc011khd.1_Silent_p.T233T|RUNDC3B_uc011khe.2_Silent_p.T233T|RUNDC3B_uc003ujc.3_Silent_p.T233T|RUNDC3B_uc003ujd.3_Silent_p.T155T	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN	Homo sapiens RUN domain containing 3B (RUNDC3B), transcript variant 1, mRNA.	250										breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					AAAGCAGTACTCCAGAGAATG	0.418000														25			12		0	0	1	0	0
CYTL1	54360	broad.mit.edu	37	4	5018646	5018646	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:5018646G>A	uc003gig.3	-	2	269	c.244C>T	c.(244-246)Ccg>Tcg	p.P82S		NM_018659	NP_061129	Q9NRR1	CYTL1_HUMAN	Homo sapiens cytokine-like 1 (CYTL1), mRNA.	82					signal transduction	extracellular space|soluble fraction	receptor binding	p.P82P(1)		breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		TTCCAACACGGGGGCGAGGCC	0.547000														90			44		0	0	1	0	0
ZDHHC3	51304	broad.mit.edu	37	3	44986686	44986686	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:44986686G>A	uc003cod.3	-	2	679	c.405C>T	c.(403-405)atC>atT	p.I135I	ZDHHC3_uc003cog.3_Silent_p.I135I|ZDHHC3_uc021wws.1_5'UTR	NM_016598	NP_057682	Q9NYG2	ZDHC3_HUMAN	Homo sapiens zinc finger, DHHC-type containing 3 (ZDHHC3), transcript variant 2, mRNA.	135						Golgi membrane|integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)		GGTCGGGCTTGATGCTGCAGC	0.587000														79			31		0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531943	140531943	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:140531943C>T	uc003lir.3	+	0	2105	c.2105C>T	c.(2104-2106)tCg>tTg	p.S702L		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	702					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.S702L(2)|p.S702A(1)		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)			TTCCTCTTTTCGGTGCTCCTG	0.687000														199			77		0	0	1	0	0
SEC16A	9919	broad.mit.edu	37	9	139371741	139371741	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:139371741G>A	uc004chx.3	-	2	636	c.327C>T	c.(325-327)ccC>ccT	p.P109P	SEC16A_uc004chv.4_5'Flank|SEC16A_uc004chw.3_Silent_p.P109P|SEC16A_uc010nbn.3_Silent_p.P109P|SEC16A_uc010nbo.1_Silent_p.P109P	NM_014866	NP_055681	O15027	SC16A_HUMAN	Homo sapiens SEC16 homolog A (S. cerevisiae) (SEC16A), mRNA.	2079					protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GTCCAGGCAGGGGCTCACAGG	0.592000														72			22		0	0	1	0	0
FOXJ1	2302	broad.mit.edu	37	17	74133899	74133899	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:74133899C>T	uc002jqx.3	-	2	1156	c.801G>A	c.(799-801)gaG>gaA	p.E267E	LOC100507218_uc002jqy.2_5'Flank	NM_001454	NP_001445	Q92949	FOXJ1_HUMAN	Homo sapiens forkhead box J1 (FOXJ1), mRNA.	267				GWGAGEGRLGHKRKQPLPKRVAKVPR -> VWVQARAGWDI SPNTLCPRGGQGPA (in Ref. 2; CAA67729).	actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific 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			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			CCAGCCTGCCCTCGCCTGCAC	0.746000														16			3		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36897663	36897663	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:36897663G>A	uc003cgj.3	-	11	3666	c.3418C>T	c.(3418-3420)Ccc>Tcc	p.P1140S		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1140					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						AGCTGGTGGGGATGTTCTGGT	0.522000														43			15		0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	33031228	33031228	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:33031228G>A	uc001rlj.4	-	2	701	c.586C>T	c.(586-588)Cgt>Tgt	p.R196C	PKP2_uc001rlk.4_Missense_Mutation_p.R196C|PKP2_uc010skj.2_Missense_Mutation_p.R196C	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	196					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					ATCTCGGAACGAGCATATCTC	0.607000														57			31		0	0	1	0	0
JHDM1D	80853	broad.mit.edu	37	7	139797366	139797366	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:139797366G>A	uc003vvm.3	-	14	1999	c.1995C>T	c.(1993-1995)tcC>tcT	p.S665S	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.	665					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)					ACTCGGGTCCGGAGTCTTCTG	0.453000														17			15		0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226446814	226446814	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:226446814C>T	uc002voe.2	+	3	856	c.681C>T	c.(679-681)tcC>tcT	p.S227S	NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_5'UTR	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	227																	GGGACTCCTCCTTGTCCCAGA	0.587000														82			49		0	0	1	0	0
EIF4G1	1981	broad.mit.edu	37	3	184049273	184049273	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:184049273C>T	uc003fnp.3	+	29	4545	c.4274C>T	c.(4273-4275)aCc>aTc	p.T1425I	EIF4G1_uc010hxx.3_Missense_Mutation_p.T1432I|EIF4G1_uc003fnt.3_Missense_Mutation_p.T1136I|EIF4G1_uc010hxy.3_Missense_Mutation_p.T1432I|EIF4G1_uc003fnq.3_Missense_Mutation_p.T1338I|EIF4G1_uc003fnr.3_Missense_Mutation_p.T1261I|EIF4G1_uc003fns.3_Missense_Mutation_p.T1385I|EIF4G1_uc003fnv.4_Missense_Mutation_p.T1426I|EIF4G1_uc003fnw.3_Missense_Mutation_p.T1432I|EIF4G1_uc003fnx.3_Missense_Mutation_p.T1230I	NM_198241	NP_937885	Q04637	IF4G1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 1 (EIF4G1), transcript variant 2, mRNA.	1425					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTGGAGTATACCCTGGGAGAG	0.557000														136			44		0	0	1	0	0
SLC29A3	55315	broad.mit.edu	37	10	73082626	73082626	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:73082626C>T	uc001jrr.4	+	1	172	c.115C>T	c.(115-117)Ccg>Tcg	p.P39S	SLC29A3_uc001jrs.4_Missense_Mutation_p.P39S|SLC29A3_uc010qjq.2_5'UTR|SLC29A3_uc001jrt.4_5'UTR	NM_018344	NP_060814	Q9BZD2	S29A3_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 3 (SLC29A3), transcript variant 1, mRNA.	39					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						GCTGGACCGCCCGCCCCCTGG	0.567000														82			25		0	0	1	0	0
USP31	57478	broad.mit.edu	37	16	23080226	23080226	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:23080226G>A	uc002dll.3	-	15	3200	c.3200C>T	c.(3199-3201)tCt>tTt	p.S1067F	USP31_uc002dlk.3_Missense_Mutation_p.S339F|USP31_uc010vca.2_Missense_Mutation_p.S370F|USP31_uc010bxm.3_Missense_Mutation_p.S355F	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	Homo sapiens ubiquitin specific peptidase 31 (USP31), mRNA.	1067	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GGGCTTTAGAGAGACTTTTAC	0.557000														56			10		0	0	1	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2306220	2306220	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:2306220G>A	uc003gex.2	-	7	2167	c.1847C>T	c.(1846-1848)cCc>cTc	p.P616L	ZFYVE28_uc011bvk.2_Missense_Mutation_p.P546L|ZFYVE28_uc011bvl.2_Missense_Mutation_p.P586L|ZFYVE28_uc003gew.2_Missense_Mutation_p.P502L	NM_020972	NP_001166130	Q9HCC9	LST2_HUMAN	Homo sapiens zinc finger, FYVE domain containing 28 (ZFYVE28), transcript variant 2, mRNA.	616					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						ATCTTCTGAGGGTGGGGGCGC	0.667000														61			32		0	0	1	0	0
CARD8	22900	broad.mit.edu	37	19	48715041	48715042	+	Silent	DNP	GG	AA	AA			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:48715041_48715042GG>AA	uc010xzj.2	-	10	1582_1583	c.1539_1540CC>TT	c.(1537-1542)gccctg>gcTTtg	p.513_514AL>AL	CARD8_uc002pii.4_3'UTR|CARD8_uc002pid.1_Intron|CARD8_uc010xzi.1_Intron|CARD8_uc010els.3_3'UTR|CARD8_uc010xzk.2_Silent_p.432_433AL>AL|CARD8_uc002pie.4_Silent_p.407_408AL>AL|CARD8_uc002pif.4_3'UTR|CARD8_uc021uwq.1_Silent_p.407_408AL>AL|CARD8_uc021uwr.1_3'UTR|CARD8_uc002pig.4_Silent_p.238_239AL>AL|CARD8_uc002pih.4_Silent_p.463_464AL>AL|CARD8_uc010xzl.2_Silent_p.463_464AL>AL|CARD8_uc010xzm.2_3'UTR	NM_001184900	NP_001171829	Q9Y2G2	CARD8_HUMAN	Homo sapiens caspase recruitment domain family, member 8 (CARD8), transcript variant 1, mRNA.	407					negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	NACHT domain binding|caspase activator activity|protein homodimerization activity			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		AGCACGTCCAGGGCCAGGTCCC	0.490000														111			36		0	0	1	0	0
CPNE4	131034	broad.mit.edu	37	3	131418796	131418796	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:131418796G>A	uc011blq.2	-	3	553	c.443C>T	c.(442-444)tCc>tTc	p.S148F	CPNE4_uc003eok.3_Missense_Mutation_p.S130F|CPNE4_uc003eol.3_Missense_Mutation_p.S148F|CPNE4_uc003eom.3_Missense_Mutation_p.S130F	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN	Homo sapiens copine IV (CPNE4), mRNA.	130	C2 2.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						CTTCAGCAAGGATTTGGACAG	0.448000														18			11		0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100443865	100443865	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:100443865G>A	uc003yiv.3	+	21	3294	c.3183G>A	c.(3181-3183)tgG>tgA	p.W1061*	VPS13B_uc003yiw.3_Nonsense_Mutation_p.W1061*|VPS13B_uc003yiu.1_Nonsense_Mutation_p.W1061*|VPS13B_uc003yix.1_Nonsense_Mutation_p.W531*	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	1061					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GAATTGTTTGGAATGCAGTGA	0.323000														32			8		0	0	1	0	0
TRBV19	28568	broad.mit.edu	37	7	142326802	142326802	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:142326802G>A	uc003vzo.2	+	1	295	c.100G>A	c.(100-102)Gaa>Aaa	p.E34K	TRBV5-1_uc011krr.1_Intron|TRBV19_uc022anp.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		GTTCAGAAAGGAAGGACAGAA	0.517000														63			40		0	0	1	0	0
NOVA1	4857	broad.mit.edu	37	14	26941582	26941582	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:26941582G>A	uc001wqa.3	-	4	883	c.97C>T	c.(97-99)Cca>Tca	p.P33S	NOVA1_uc001wpy.3_Missense_Mutation_p.P155S|NOVA1_uc001wpz.3_Intron|NOVA1_uc001wqb.3_Missense_Mutation_p.P155S	NM_002515	NP_002506	P51513	NOVA1_HUMAN	Homo sapiens neuro-oncological ventral antigen 1 (NOVA1), transcript variant 1, mRNA.	158					RNA splicing|locomotory behavior|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		GTGGTAGTTGGGGAAGATGGC	0.393000														2			10		0	0	1	0	0
HDGFL1	154150	broad.mit.edu	37	6	22569993	22569993	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:22569993G>A	uc003nds.3	+	0	316	c.189G>A	c.(187-189)aaG>aaA	p.K63K		NM_138574	NP_612641	Q5TGJ6	HDGL1_HUMAN	Homo sapiens hepatoma derived growth factor-like 1 (HDGFL1), mRNA.	63										kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					AGGAGTGCAAGGAGAAGTTCG	0.607000														24			10		0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76893173	76893173	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:76893173C>T	uc001oyb.2	+	23	3353	c.3081C>T	c.(3079-3081)ctC>ctT	p.L1027L	MYO7A_uc010rsl.2_Silent_p.L1027L|MYO7A_uc010rsm.1_Silent_p.L1016L|MYO7A_uc001oyc.2_Silent_p.L1027L|MYO7A_uc001oyd.3_Silent_p.L367L|MYO7A_uc009yus.1_Non-coding_Transcript|MYO7A_uc009yut.1_Silent_p.L238L	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	1027	MyTH4 1.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AGCCACTGCTCTACCATGACG	0.602000														37			13		0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	145004365	145004366	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:145004365_145004366GG>AA	uc003zaf.1	-	20	3139_3140	c.2969_2970CC>TT	c.(2968-2970)tcc>tTT	p.S990F	PLEC_uc003zab.1_Missense_Mutation_p.S853F|PLEC_uc003zac.1_Missense_Mutation_p.S857F|PLEC_uc003zad.2_Missense_Mutation_p.S853F|PLEC_uc003zae.1_Missense_Mutation_p.S821F|PLEC_uc003zag.1_Missense_Mutation_p.S831F|PLEC_uc003zah.2_Missense_Mutation_p.S839F|PLEC_uc003zaj.2_Missense_Mutation_p.S880F	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	990	Globular 1.				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						GGAAGCACACGGAGGGCACGGC	0.723000														12			4		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103629587	103629587	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:103629587C>T	uc022ajr.1	-	0	377	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	RELN_uc022ajq.1_Missense_Mutation_p.E73K|RELN_uc010liz.3_Missense_Mutation_p.E73K	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	73	Reelin.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.E73A(1)		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)		CCATGGTATTCTTGTCCCGGA	0.647000														60			10		0	0	1	0	0
NDST3	9348	broad.mit.edu	37	4	119064768	119064768	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:119064768C>T	uc003ibx.3	+	5	1871	c.1468C>T	c.(1468-1470)Cca>Tca	p.P490S	NDST3_uc011cgf.1_Missense_Mutation_p.P409S	NM_004784	NP_004775	O95803	NDST3_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 (NDST3), mRNA.	490	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						CAAAGAATATCCAGGGGGTCC	0.383000														28			11		0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160490958	160490958	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:160490958C>T	uc003qta.3	+	30	4459	c.4311C>T	c.(4309-4311)ctC>ctT	p.L1437L		NM_000876	NP_000867	P11717	MPRI_HUMAN	Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.	1437					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		CCGTGAACCTCGGCAGGGTAA	0.547000														19			3		0	0	1	0	0
LPAR1	1902	broad.mit.edu	37	9	113703941	113703941	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:113703941C>T	uc011lwo.2	-	1	558	c.556G>A	c.(556-558)Ggc>Agc	p.G186S	LPAR1_uc004bfa.3_Missense_Mutation_p.G185S|LPAR1_uc011lwm.2_Missense_Mutation_p.G186S|LPAR1_uc004bfc.3_Missense_Mutation_p.G185S|LPAR1_uc011lwn.2_Missense_Mutation_p.G167S|LPAR1_uc004bfb.3_Missense_Mutation_p.G185S|LPAR1_uc010mub.3_Missense_Mutation_p.G185S	NM_057159	NP_476500	Q92633	LPAR1_HUMAN	Homo sapiens lysophosphatidic acid receptor 1 (LPAR1), transcript variant 2, mRNA.	185					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						CAGTTCCAGCCCACACTGGGT	0.502000														55			42		0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52554978	52554978	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:52554978G>A	uc003dej.3	+	54	5939	c.5865G>A	c.(5863-5865)tgG>tgA	p.W1955*	STAB1_uc003dek.1_5'UTR|STAB1_uc003del.3_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	1955					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CCACCACCTGGAAGCCCAGCT	0.607000														19			17		0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	233995312	233995312	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:233995312C>T	uc010zmo.2	+	4	772	c.619C>T	c.(619-621)Cct>Tct	p.P207S	INPP5D_uc010zmp.2_Missense_Mutation_p.P206S	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	207					T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration	cytosol	SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CAGCAGTCTTCCTCACCTGAA	0.552000														7			14		0	0	1	0	0
OR51Q1	390061	broad.mit.edu	37	11	5444164	5444164	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:5444164C>T	uc010qzd.2	+	0	824	c.734C>T	c.(733-735)tCc>tTc	p.S245F	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004757	NP_001004757	Q8NH59	O51Q1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily Q, member 1 (OR51Q1), mRNA.	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AACTGCCTGTCCCACATTCTA	0.493000														56			25		0	0	1	0	0
OR13C5	138799	broad.mit.edu	37	9	107360982	107360982	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:107360982G>A	uc011lvp.2	-	0	713	c.713C>T	c.(712-714)tCc>tTc	p.S238F		NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 5 (OR13C5), mRNA.	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						GCAGGTAGAGGAAGGTTTGCT	0.408000														50			32		0	0	1	0	0
KERA	11081	broad.mit.edu	37	12	91445196	91445196	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:91445196C>T	uc001tbl.3	-	2	1605	c.986G>A	c.(985-987)gGa>gAa	p.G329E		NM_007035	NP_008966	O60938	KERA_HUMAN	Homo sapiens keratocan (KERA), mRNA.	329					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						GATTTCATTTCCATCCAGACG	0.433000														33			18		0	0	1	0	0
COL27A1	85301	broad.mit.edu	37	9	117002512	117002512	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:117002512G>A	uc011lxl.2	+	19	2740	c.2740G>A	c.(2740-2742)Gac>Aac	p.D914N	COL27A1_uc004bii.3_Non-coding_Transcript	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	914	Collagen-like 5.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						ATTCCCAGGAGACATCGGCCC	0.622000														48			28		0	0	1	0	0
HEG1	57493	broad.mit.edu	37	3	124746350	124746350	+	Splice_Site	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:124746350G>A	uc011bke.2	-	3	679	c.611_splice	c.e3-1	p.A204_splice	HEG1_uc003ehs.4_Splice_Site_p.A204_splice	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	Homo sapiens HEG homolog 1 (zebrafish) (HEG1), mRNA.	204						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GACTTTCTGAGGCTGAAAACA	0.418000														24			7		0	0	1	0	0
OR4K5	79317	broad.mit.edu	37	14	20389661	20389661	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:20389661G>A	uc010tkw.2	+	0	896	c.896G>A	c.(895-897)aGg>aAg	p.R299K		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		GCTGCCGTAAGGAAAATTGTG	0.383000														44			24		0	0	1	0	0
ATP11B	23200	broad.mit.edu	37	3	182554145	182554145	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:182554145C>T	uc003flb.3	+	5	696	c.439C>T	c.(439-441)Cga>Tga	p.R147*	ATP11B_uc003fla.3_Nonsense_Mutation_p.R147*	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	Homo sapiens ATPase, class VI, type 11B (ATP11B), mRNA.	147					ATP biosynthetic process|aminophospholipid transport	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			TGATATTGTTCGAATAGCCAA	0.398000														104			29		0	0	1	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52129284	52129285	+	Splice_Site	DNP	CC	TT	TT			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:52129284_52129285CC>TT	uc002pxe.3	-	8	1603	c.1464_splice	c.e8+1	p.S488_splice		NM_003830	NP_003821	O15389	SIGL5_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 5 (SIGLEC5), mRNA.	488					cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		AAACCACTCACCGAGGTGATGG	0.525000														17			12		0	0	1	0	0
LSG1	55341	broad.mit.edu	37	3	194373795	194373795	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:194373795G>A	uc003fui.3	-	7	1151	c.836C>T	c.(835-837)tCc>tTc	p.S279F		NM_018385	NP_060855	Q9H089	LSG1_HUMAN	Homo sapiens large subunit GTPase 1 homolog (S. cerevisiae) (LSG1), mRNA.	279					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		TTCACTGTGGGAAATTTCAGC	0.443000														78			28		0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11521455	11521455	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:11521455C>T	uc021zzo.1	-	6	2229	c.1977G>A	c.(1975-1977)caG>caA	p.Q659Q	THSD7A_uc021zzn.1_Silent_p.Q659Q	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	659	TSP type-1 6.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GTGCTCGTATCTGTTTCCCTT	0.522000										HNSCC(18;0.044)				52			18		0	0	1	0	0
FBXO16	157574	broad.mit.edu	37	8	28321268	28321268	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:28321268G>A	uc003xgu.3	-	3	301	c.203C>T	c.(202-204)tCc>tTc	p.S68F	ZNF395_uc003xgt.3_5'UTR|FBXO16_uc003xgv.3_Missense_Mutation_p.S55F	NM_172366	NP_758954	Q8IX29	FBX16_HUMAN	Homo sapiens F-box protein 16 (FBXO16), mRNA.	68										large_intestine(2)|ovary(1)	3		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)		CTTTTGCTGGGACAGCGAGCA	0.428000														32			3		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41101087	41101087	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:41101087G>A	uc002xkg.3	-	7	1453	c.1269C>T	c.(1267-1269)acC>acT	p.T423T	PTPRT_uc010ggj.3_Silent_p.T423T	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	423	Fibronectin type-III 2.				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.L422F(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)				GGTACTGCACGGTGAGGTTGT	0.607000														51			17		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9089417	9089417	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:9089417C>T	uc002mkp.3	-	0	2602	c.2398G>A	c.(2398-2400)Gaa>Aaa	p.E800K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	800	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.G799V(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						GCTGTCTCTTCCCCTGATGGA	0.512000														94			34		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3889520	3889520	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:3889520G>A	uc022aqr.1	-	3	907	c.517C>T	c.(517-519)Cct>Tct	p.P173S		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	173	Sushi 1.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATGTAGCCAGGGAGGCAGCTG	0.517000														21			6		0	0	1	0	0
SV2C	22987	broad.mit.edu	37	5	75427623	75427623	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:75427623G>A	uc003kei.1	+	1	182	c.48G>A	c.(46-48)aaG>aaA	p.K16K		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA.	16	Interaction with SYT1 (By similarity).				neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		AGGGTGCCAAGGACATTGCCA	0.468000														41			10		0	0	1	0	0
SLC41A1	254428	broad.mit.edu	37	1	205767084	205767085	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:205767084_205767085CC>TT	uc001hdh.1	-	6	1811_1812	c.939_940GG>AA	c.(937-942)agggag>agAAag	p.E314K	SLC41A1_uc001hdg.1_5'Flank|AX748016_uc001hdi.1_5'Flank	NM_173854	NP_776253	Q8IVJ1	S41A1_HUMAN	Homo sapiens solute carrier family 41, member 1 (SLC41A1), mRNA.	314						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			TACAACACCTCCCTTGTGGCTG	0.589000														60			37		0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33881254	33881254	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:33881254C>T	uc003jia.1	-	1	622	c.459G>A	c.(457-459)ggG>ggA	p.G153G	ADAMTS12_uc010iuq.1_Silent_p.G153G|ADAMTS12_uc003jib.1_Silent_p.G153G	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	153					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						GGGCTGCCGTCCCAACTCTGG	0.587000										HNSCC(64;0.19)				43			24		0	0	1	0	0
ANPEP	290	broad.mit.edu	37	15	90342782	90342782	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:90342782C>T	uc002bop.4	-	12	2120	c.1828G>A	c.(1828-1830)Gat>Aat	p.D610N		NM_001150	NP_001141	P15144	AMPN_HUMAN	Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA.	610	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)	CTGAAGAGATCGTTCTGGGCT	0.592000														215			33		0	0	1	0	0
OR8K3	219473	broad.mit.edu	37	11	56086143	56086143	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:56086143G>A	uc010rjf.2	+	0	361	c.361G>A	c.(361-363)Gac>Aac	p.D121N		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D121N(2)		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)					CATGTCCTACGACCTCTATGT	0.398000														53			12		0	0	1	0	0
DNTT	1791	broad.mit.edu	37	10	98080535	98080535	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:98080535G>A	uc001kmf.3	+	3	838	c.668G>A	c.(667-669)gGt>gAt	p.G223D	DNTT_uc001kmg.3_Missense_Mutation_p.G223D	NM_004088	NP_004079	P04053	TDT_HUMAN	Homo sapiens deoxynucleotidyltransferase, terminal (DNTT), transcript variant 1, mRNA.	223	Mediates interaction with DNTTIP2.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		AAGGTGAAGGGTATCATAGAG	0.463000														27			28		0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79058520	79058521	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:79058520_79058521GG>AA	uc002bej.4	-	18	3943_3944	c.3732_3733CC>TT	c.(3730-3735)tcccct>tcTTct	p.P1245S	ADAMTS7_uc010und.1_3'UTR	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	1245					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CTGCCAACAGGGGACAAAGGGG	0.658000														40			5		0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64627611	64627611	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:64627611G>A	uc003dmg.3	-	11	1801	c.1769C>T	c.(1768-1770)tCc>tTc	p.S590F	ADAMTS9_uc011bfo.2_Missense_Mutation_p.S562F|ADAMTS9_uc003dmh.1_Missense_Mutation_p.S419F|ADAMTS9_uc003dmk.1_Missense_Mutation_p.S590F	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	590	TSP type-1 1.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		ACTTCCCCAGGATCCATCTGT	0.488000														43			31		0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19445922	19445922	+	RNA	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr13:19445922C>T	uc010tcj.1	-	0		c.188G>A								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		TTACATTAATCTTCTTATTAG	0.318000														9			5		0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145393604	145393604	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:145393604C>T	uc003lnt.3	+	4	1277	c.1039C>T	c.(1039-1041)Cct>Tct	p.P347S	SH3RF2_uc011dbl.1_Missense_Mutation_p.P347S	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	347							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)			AGCAGACGTTCCTTCCAGCTG	0.527000														55			18		0	0	1	0	0
NRG3	10718	broad.mit.edu	37	10	84738731	84738731	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:84738731G>A	uc021pvc.1	+	7	1465	c.1438G>A	c.(1438-1440)Ggg>Agg	p.G480R	NRG3_uc010qlz.1_Missense_Mutation_p.G479R|NRG3_uc021pvb.1_Non-coding_Transcript|NRG3_uc001kco.2_Missense_Mutation_p.G480R|NRG3_uc001kcp.2_Missense_Mutation_p.G259R|NRG3_uc001kcq.2_Missense_Mutation_p.G130R|NRG3_uc021pvd.1_Missense_Mutation_p.G259R|NRG3_uc021pve.1_Missense_Mutation_p.G284R|NRG3_uc021pvf.1_Missense_Mutation_p.G130R|NRG3_uc021pvg.1_Missense_Mutation_p.G284R|NRG3_uc021pvh.1_Missense_Mutation_p.G68R|NRG3_uc021pvi.1_Missense_Mutation_p.G310R|NRG3_uc021pvk.1_5'UTR|NRG3_uc001kcr.2_Missense_Mutation_p.G130R|NRG3_uc021pvl.1_Missense_Mutation_p.G130R	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	Homo sapiens neuregulin 3 (NRG3), transcript variant 1, mRNA.	480					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		CTGCAGCCCAGGGCAAAGAAG	0.507000														22			3		0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153026503	153026503	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:153026503C>T	uc011dcy.2	+	2	293	c.266C>T	c.(265-267)tCc>tTc	p.S89F	GRIA1_uc003lva.4_Missense_Mutation_p.S79F|GRIA1_uc003luy.4_Missense_Mutation_p.S79F|GRIA1_uc003luz.4_5'UTR|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Intron|GRIA1_uc011dcx.2_Missense_Mutation_p.S10F|GRIA1_uc011dcz.2_Missense_Mutation_p.S89F|GRIA1_uc010jia.1_Missense_Mutation_p.S59F	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	79					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|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(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TCCCAGTTCTCCAAAGGAGTC	0.453000														72			18		0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88483956	88483956	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	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)				144			16		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135432151	135432151	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:135432151G>A	uc004ezu.1	+	5	6577	c.6286G>A	c.(6286-6288)Gat>Aat	p.D2096N	GPR112_uc010nsb.1_Missense_Mutation_p.D1891N|GPR112_uc010nsc.1_Missense_Mutation_p.D1863N	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	2096					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)					AAATGTCACAGATGACATTGT	0.473000														23			46		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8137961	8137961	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:8137961G>A	uc002mjf.3	-	60	7940	c.7923C>T	c.(7921-7923)ttC>ttT	p.F2641F	FBN3_uc002mje.3_Silent_p.F437F	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	2641	EGF-like 44; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCCCAGCCCGGAAGTAGCCTT	0.647000														67			21		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140348652	140348652	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:140348652G>C	uc003lii.3	+	0	2906	c.2301G>C	c.(2299-2301)agG>agC	p.R767S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Missense_Mutation_p.R767S	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	767					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)			TTGATGCCAGGATACCGCATG	0.522000														28			23		0	0	1	0	0
TBC1D21	161514	broad.mit.edu	37	15	74180060	74180060	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:74180060G>A	uc002avz.3	+	8	960	c.877G>A	c.(877-879)Ggg>Agg	p.G293R	TBC1D21_uc010ulc.2_Missense_Mutation_p.G257R	NM_153356	NP_699187	Q8IYX1	TBC21_HUMAN	Homo sapiens TBC1 domain family, member 21 (TBC1D21), mRNA.	293						intracellular	Rab GTPase activator activity			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						AAGCATGGGCGGGGATGACAT	0.647000														116			25		0	0	1	0	0
AMBN	258	broad.mit.edu	37	4	71465272	71465272	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:71465272G>A	uc003hfl.3	+	4	304	c.203G>A	c.(202-204)gGa>gAa	p.G68E		NM_016519	NP_057603	Q9NP70	AMBN_HUMAN	Homo sapiens ameloblastin (enamel matrix protein) (AMBN), mRNA.	68					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			TACGGCTTTGGAAAATCATTT	0.353000														22			20		0	0	1	0	0
ABTB1	80325	broad.mit.edu	37	3	127393292	127393292	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:127393292C>T	uc003ejt.3	+	1	203	c.115C>T	c.(115-117)Ccc>Tcc	p.P39S	ABTB1_uc003ejr.3_Intron|ABTB1_uc003ejs.3_Intron|ABTB1_uc003eju.3_Intron|ABTB1_uc010hsm.3_5'Flank	NM_172027	NP_742024	Q969K4	ABTB1_HUMAN	Homo sapiens ankyrin repeat and BTB (POZ) domain containing 1 (ABTB1), transcript variant 2, mRNA.	39						cytoplasm|nucleolus|plasma membrane	translation elongation factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						GGACAGCACCCCCTTGTGAGT	0.622000														8			14		0	0	1	0	0
C15orf55	256646	broad.mit.edu	37	15	34649626	34649626	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:34649626G>A	uc010ucc.2	+	7	3799	c.3417G>A	c.(3415-3417)caG>caA	p.Q1139Q	C15orf55_uc010ucd.2_Silent_p.Q1129Q|C15orf55_uc001zif.3_Silent_p.Q1111Q	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.	1111						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	large_intestine(2)|ovary(3)|skin(2)	7		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		GACCCTCACAGCCTCGTAAAA	0.582000			T	"""BRD3, BRD4"""	lethal midline carcinoma									67			19		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131866946	131866946	+	Silent	SNP	T	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:131866946T>A	uc003vra.4	-	16	3391	c.3162A>T	c.(3160-3162)ggA>ggT	p.G1054G		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1054	IPT/TIG 3.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGGGTGTGTTTCCACTGAGCA	0.493000														36			24		0	0	1	0	0
FAM75E1	286234	broad.mit.edu	37	9	90499872	90499872	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:90499872T>A	uc004app.4	+	3	505	c.470T>A	c.(469-471)tTa>tAa	p.L157*	FAM75E1_uc004apo.1_Intron	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	157						integral to membrane											CACCTGCCCTTAGGTGGAGAC	0.632000														31			10		0	0	1	0	0
FAM132A	388581	broad.mit.edu	37	1	1177978	1177978	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:1177978G>A	uc001adl.2	-	7	891	c.859C>T	c.(859-861)Ctc>Ttc	p.L287F		NM_001014980	NP_001014980	Q5T7M4	F132A_HUMAN	Homo sapiens family with sequence similarity 132, member A (FAM132A), mRNA.	287						extracellular region				haematopoietic_and_lymphoid_tissue(1)|lung(1)	2	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;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TGGATGGTGAGGACGGCCCCG	0.687000														9			3		0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11676374	11676374	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:11676374C>T	uc021zzo.1	-	1	657	c.405G>A	c.(403-405)gtG>gtA	p.V135V	THSD7A_uc021zzn.1_Silent_p.V135V	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	135						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TTTTTGAAATCACGGGCTGAC	0.468000										HNSCC(18;0.044)				33			12		0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119937958	119937958	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:119937958C>T	uc001txe.3	+	5	1098	c.633C>T	c.(631-633)ttC>ttT	p.F211F	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	211										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GGGAGCATTTCATCACAGCGC	0.468000														11			49		0	0	1	0	0
GLIS1	148979	broad.mit.edu	37	1	53974864	53974864	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:53974864C>T	uc001cvr.1	-	8	2201	c.1634G>A	c.(1633-1635)gGg>gAg	p.G545E		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA.	545					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						GTGGGTCTCCCCGACCAGTCC	0.652000														14			5		0	0	1	0	0
CCL13	6357	broad.mit.edu	37	17	32685087	32685087	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:32685087G>A	uc002hic.3	+	2	309	c.234G>A	c.(232-234)aaG>aaA	p.K78K		NM_005408	NP_005399	Q99616	CCL13_HUMAN	Homo sapiens chemokine (C-C motif) ligand 13 (CCL13), mRNA.	78					cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response	extracellular space	chemokine activity|signal transducer activity			large_intestine(1)|prostate(1)	2		Ovarian(249;0.0443)|Breast(31;0.151)				CTGACCCAAAGGAGAAGTGGG	0.502000														25			8		0	0	1	0	0
DAND5	199699	broad.mit.edu	37	19	13084298	13084298	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:13084298C>T	uc002mwc.1	+	1	571	c.420C>T	c.(418-420)acC>acT	p.T140T	DAND5_uc010dyz.1_3'UTR	NM_152654	NP_689867	Q8N907	DAND5_HUMAN	Homo sapiens DAN domain family, member 5 (DAND5), mRNA.	140	CTCK.					extracellular region				kidney(2)|lung(3)|ovary(1)	6			OV - Ovarian serous cystadenocarcinoma(19;1.87e-18)			CGGACCCCACCCCACTAGTCC	0.622000														49			26		0	0	1	0	0
PRSS27	83886	broad.mit.edu	37	16	2762732	2762732	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:2762732G>A	uc002crf.3	-	5	1153	c.762C>T	c.(760-762)gcC>gcT	p.A254A	PRSS27_uc002cre.3_Silent_p.A218A|PRSS27_uc002crg.3_Silent_p.A152A	NM_031948	NP_114154	Q9BQR3	PRS27_HUMAN	Homo sapiens protease, serine 27 (PRSS27), mRNA.	254	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						GGTTCTGGCGGGCACAGCCCT	0.682000														7			3		0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559171	140559171	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:140559171C>T	uc011dai.2	+	0	1801	c.1556C>T	c.(1555-1557)tCg>tTg	p.S519L	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	519	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCCTCAGGTCGCTGGACTAC	0.687000														242			28		0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110814670	110814670	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr13:110814670C>T	uc001vqw.4	-	47	4491	c.4369G>A	c.(4369-4371)Gac>Aac	p.D1457N		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	1457	Collagen IV NC1.				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)			CACTGTGGGTCATCTATTGTT	0.552000														62			53		0	0	1	0	0
KRTAP10-10	353333	broad.mit.edu	37	21	46057908	46057908	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr21:46057908C>T	uc002zfq.3	+	0	636	c.574C>T	c.(574-576)Ctc>Ttc	p.L192F	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_181688	NP_859016	P60014	KR10A_HUMAN	Homo sapiens keratin associated protein 10-10 (KRTAP10-10), mRNA.	192	15 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						CTCCGTGTCCCTCCTCTGCCA	0.682000														102			87		0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85742573	85742573	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:85742573A>G	uc003hpd.3	-	10	1663	c.1255T>C	c.(1255-1257)Ttc>Ctc	p.F419L	WDFY3_uc003hpf.3_Missense_Mutation_p.F419L	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	419						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TCTAGGATGAAGTAATTGGCA	0.373000														69			23		0	0	1	0	0
TXNRD2	10587	broad.mit.edu	37	22	19865664	19865664	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:19865664A>C	uc021wlj.1	-	15	1427	c.1394T>G	c.(1393-1395)tTc>tGc	p.F465C	TXNRD2_uc002zqo.1_Non-coding_Transcript|TXNRD2_uc002zqr.1_Missense_Mutation_p.F464C|TXNRD2_uc002zqj.1_Non-coding_Transcript|TXNRD2_uc002zqq.1_Missense_Mutation_p.F115C	NM_006440		Q9NNW7	TRXR2_HUMAN	Homo sapiens thioredoxin reductase 2 (TXNRD2), nuclear gene encoding mitochondrial protein, mRNA.	465					cell redox homeostasis|response to oxygen radical	mitochondrion	NADP binding|flavin adenine dinucleotide binding|thioredoxin-disulfide reductase activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					GGGGCCAAGGAAATGCAGGCC	0.612000														22			11		0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	74976483	74976483	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:74976483G>A	uc001xqa.3	-	20	3618	c.3231C>T	c.(3229-3231)gcC>gcT	p.A1077A		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	1077	Cys-rich.|EGF-like 9; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CGTTCTCACAGGCAGAGCAGG	0.582000														18			31		0	0	1	0	0
FAM160A2	84067	broad.mit.edu	37	11	6245613	6245613	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:6245613G>A	uc001mck.4	-	1	493	c.134C>T	c.(133-135)tCc>tTc	p.S45F	FAM160A2_uc001mcl.4_Missense_Mutation_p.S45F|FAM160A2_uc001mcm.2_Missense_Mutation_p.S45F	NM_032127	NP_115503	Q8N612	F16A2_HUMAN	Homo sapiens family with sequence similarity 160, member A2 (FAM160A2), transcript variant 1, mRNA.	45					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCCTACCTGGGACCAGTGATT	0.527000														58			16		0	0	1	0	0
KBTBD7	84078	broad.mit.edu	37	13	41767331	41767331	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr13:41767331G>A	uc001uxw.1	-	0	1372	c.1063C>T	c.(1063-1065)Ccc>Tcc	p.P355S	AK056182_uc001uxv.1_Intron	NM_032138	NP_115514	Q8WVZ9	KBTB7_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 7 (KBTBD7), mRNA.	355							protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		CAGAGAAAGGGATCTCTAGGA	0.498000														30			6		0	0	1	0	0
SNORD114-22	767600	broad.mit.edu	37	14	101449268	101449268	+	RNA	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:101449268C>T	uc001yjm.3	+	0		c.6C>T								Homo sapiens small nucleolar RNA, C/D box 114-22 (SNORD114-22), small nucleolar RNA.																		CATTCTGGATCGATGATGACT	0.368000														24			31		0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5903218	5903218	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:5903218C>T	uc002wmg.3	+	3	734	c.428C>T	c.(427-429)cCc>cTc	p.P143L	CHGB_uc010zqz.2_Intron	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	143						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						AGCCTCTATCCCTCCGACAGC	0.572000														5			10		0	0	1	0	0
CDK5RAP3	80279	broad.mit.edu	37	17	46054136	46054136	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:46054136C>G	uc010wlc.2	+	8	1041	c.917C>G	c.(916-918)tCt>tGt	p.S306C	CDK5RAP3_uc002imq.1_Missense_Mutation_p.S61C|CDK5RAP3_uc002imr.3_Missense_Mutation_p.S286C|CDK5RAP3_uc002ims.3_Missense_Mutation_p.S199C	NM_176096	NP_788276	Q96JB5	CK5P3_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 3 (CDK5RAP3), mRNA.	286					brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						TCTGGCATCTCTGCCGAGGCT	0.522000														65			17		0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10538311	10538311	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:10538311G>A	uc002gmq.2	-	30	4290	c.4202C>T	c.(4201-4203)tCc>tTc	p.S1401F		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	1401					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CTGTTCCTCGGAATCTTGAAG	0.433000														15			31		0	0	1	0	0
CDHR3	222256	broad.mit.edu	37	7	105669022	105669022	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:105669022C>T	uc003vdl.4	+	16	2406	c.2298C>T	c.(2296-2298)gtC>gtT	p.V766V	CDHR3_uc003vdk.3_Missense_Mutation_p.R198C|CDHR3_uc003vdm.4_Silent_p.V753V|CDHR3_uc011klt.2_Silent_p.V678V|CDHR3_uc003vdn.3_Missense_Mutation_p.R267C	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN	Homo sapiens cadherin-related family member 3 (CDHR3), mRNA.	766					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						AGAGAGACGTCGTGGTGGTGA	0.567000														25			16		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124358371	124358371	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:124358371C>T	uc001lgk.1	+	25	3144	c.3038C>T	c.(3037-3039)tCc>tTc	p.S1013F	DMBT1_uc001lgl.1_Missense_Mutation_p.S1003F|DMBT1_uc001lgm.1_Missense_Mutation_p.S514F|DMBT1_uc021qaf.1_Missense_Mutation_p.S1013F|DMBT1_uc021qag.1_Missense_Mutation_p.S1003F|DMBT1_uc021qah.1_Missense_Mutation_p.S514F|DMBT1_uc009xzz.1_Missense_Mutation_p.S1013F|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_5'UTR	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1013	SRCR 8.				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)				TACCAAGGCTCCTGGGGCACC	0.587000														214			173		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179598590	179598590	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:179598590C>A	uc021vsy.1	-	49	12019	c.11794G>T	c.(11794-11796)Gat>Tat	p.D3932Y	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D593Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4859							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)			GCAATCAAATCATCTACTTTC	0.408000														19			8		3.09899e-07	3.12336e-07	1	1	0
ZFP91	80829	broad.mit.edu	37	11	58379782	58379782	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:58379782C>T	uc001nmx.4	+	6	1057	c.889C>T	c.(889-891)Cca>Tca	p.P297S	ZFP91_uc001nmy.4_Missense_Mutation_p.P296S|CNTF_uc010rkm.2_Non-coding_Transcript	NM_053023	NP_444251	Q96JP5	ZFP91_HUMAN	Homo sapiens zinc finger protein 91 homolog (mouse) (ZFP91), transcript variant 1, mRNA.	297					activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				TGACAAAAGTCCACGTTTACC	0.393000														19			4		0	0	1	0	0
MCF2	4168	broad.mit.edu	37	X	138678917	138678917	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:138678917C>T	uc011mwn.1	-	21	2509	c.2503G>A	c.(2503-2505)Gaa>Aaa	p.E835K	MCF2_uc004fav.3_Missense_Mutation_p.E706K|MCF2_uc004fau.3_Missense_Mutation_p.E690K|MCF2_uc010nsh.2_Missense_Mutation_p.E690K|MCF2_uc011mwm.2_Missense_Mutation_p.E651K|MCF2_uc011mwl.2_Missense_Mutation_p.E667K|MCF2_uc011mwo.1_Missense_Mutation_p.E766K|MCF2_uc004faw.2_Missense_Mutation_p.E750K|Mir_548_uc022cfd.1_5'Flank	NM_001171878	NP_001165349	P10911	MCF2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence (MCF2), transcript variant 5, mRNA.	690					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	Rho guanyl-nucleotide exchange factor activity|protein binding			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TTGCCCAGTTCATTTAAGTTT	0.403000														36			23		0	0	1	0	0
RPS6KA2	6196	broad.mit.edu	37	6	166902340	166902341	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:166902340_166902341CC>TT	uc003qvd.1	-	11	1075_1076	c.962_963GG>AA	c.(961-963)cgg>cAA	p.R321Q	RPS6KA2_uc011ego.1_Missense_Mutation_p.R207Q|RPS6KA2_uc010kkl.1_Missense_Mutation_p.R207Q|RPS6KA2_uc003qvb.1_Missense_Mutation_p.R296Q|RPS6KA2_uc003qvc.1_Missense_Mutation_p.R304Q	NM_021135	NP_066958	Q15349	KS6A2_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 2 (RPS6KA2), transcript variant 1, mRNA.	296	AGC-kinase C-terminal.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|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|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		TGCAGGGGTTCCGTTTGAAGAG	0.584000														14			4		0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18801781	18801781	+	Splice_Site	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:18801781G>A	uc003sui.3	+	14	2085	c.2044_splice	c.e14-1	p.R682_splice	HDAC9_uc003sue.3_Splice_Site_p.R679_splice|HDAC9_uc011jyd.2_Splice_Site_p.R679_splice|HDAC9_uc003suh.3_Splice_Site_p.R679_splice|HDAC9_uc003suj.3_Splice_Site_p.R638_splice|HDAC9_uc003sua.1_Splice_Site_p.R657_splice	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	679	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	p.R682Q(2)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TTCTTGCAGCGAATTCAAGGT	0.438000														18			11		0	0	1	0	0
PJA2	9867	broad.mit.edu	37	5	108672937	108672937	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:108672937G>A	uc003kos.4	-	9	2342	c.2122C>T	c.(2122-2124)Ccc>Tcc	p.P708S	JA429135_uc021ycd.1_5'Flank	NM_014819	NP_055634	O43164	PJA2_HUMAN	Homo sapiens praja ring finger 2 (PJA2), mRNA.	708	Interaction with PRKAR1A, PRKAR2A and PRKAR2B.				long-term memory|regulation of protein kinase A signaling cascade	Golgi membrane|cell junction|endoplasmic reticulum membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		AAGGTTTAGGGTGCTTCTGCA	0.393000														49			10		0	0	1	0	0
ELN	2006	broad.mit.edu	37	7	73459563	73459563	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:73459563C>T	uc003tzw.3	+	9	572	c.481C>T	c.(481-483)Ccc>Tcc	p.P161S	ELN_uc003tzm.1_Intron|ELN_uc003tzn.3_Missense_Mutation_p.P161S|ELN_uc003tzy.3_Missense_Mutation_p.P156S|ELN_uc003tzz.3_Missense_Mutation_p.P149S|ELN_uc003tzo.3_Missense_Mutation_p.P161S|ELN_uc003tzp.3_Intron|ELN_uc003tzq.3_Intron|ELN_uc003tzr.3_Non-coding_Transcript|ELN_uc003tzs.3_Missense_Mutation_p.P161S|ELN_uc003tzt.3_Missense_Mutation_p.P166S|ELN_uc003tzu.3_Missense_Mutation_p.P166S|ELN_uc003tzv.3_Missense_Mutation_p.P151S|ELN_uc011kfe.2_Non-coding_Transcript|ELN_uc003tzx.3_Missense_Mutation_p.P151S|ELN_uc011kff.2_Missense_Mutation_p.P161S	NM_000501	NP_001075224	P15502	ELN_HUMAN	Homo sapiens elastin (ELN), transcript variant 1, mRNA.	161					blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	AGCTCGGTTCCCCGGTGTGGG	0.657000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""							88			14		0	0	1	0	0
CSRNP1	64651	broad.mit.edu	37	3	39184682	39184682	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:39184682G>A	uc003cjg.3	-	4	1848	c.1634C>T	c.(1633-1635)cCt>cTt	p.P545L	CSRNP1_uc003cjh.3_Missense_Mutation_p.P545L	NM_033027	NP_149016	Q96S65	CSRN1_HUMAN	Homo sapiens cysteine-serine-rich nuclear protein 1 (CSRNP1), mRNA.	545					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						GGCATCCCCAGGTGGAGACAG	0.577000														57			19		0	0	1	0	0
VNN1	8876	broad.mit.edu	37	6	133013537	133013537	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:133013537A>T	uc003qdo.3	-	4	1033	c.1013T>A	c.(1012-1014)tTt>tAt	p.F338Y		NM_004666	NP_004657	O95497	VNN1_HUMAN	Homo sapiens vanin 1 (VNN1), mRNA.	338					acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		TTCATCGAAAAAGACAGTGCC	0.423000														15			18		0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20792812	20792812	+	Silent	SNP	C	T	T	rs138359943		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:20792812C>T	uc001reh.2	+	9	2212	c.2172C>T	c.(2170-2172)ctC>ctT	p.L724L	PDE3A_uc021qwa.1_Silent_p.L402L	NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	724					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)	ACATGGGCCTCTTTGAAGCTT	0.338000														41			6		0	0	1	0	0
C1RL	51279	broad.mit.edu	37	12	7254530	7254530	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:7254530G>A	uc001qsn.3	-	2	547	c.454C>T	c.(454-456)Ctc>Ttc	p.L152F	C1RL_uc009zft.3_Missense_Mutation_p.L152F|C1RL_uc001qso.2_Missense_Mutation_p.L152F	NM_016546	NP_057630	Q9NZP8	C1RL_HUMAN	Homo sapiens complement component 1, r subcomponent-like (C1RL), mRNA.	152	CUB.				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCCTTGTGGAGGTGGGCAGTC	0.617000														117			45		0	0	1	0	0
ERBB2IP	55914	broad.mit.edu	37	5	65349290	65349290	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:65349290C>T	uc003juk.2	+	20	2454	c.2144C>T	c.(2143-2145)tCa>tTa	p.S715L	ERBB2IP_uc011cqx.2_Missense_Mutation_p.S715L|ERBB2IP_uc003jui.2_Missense_Mutation_p.S715L|ERBB2IP_uc003jul.2_Missense_Mutation_p.S711L|ERBB2IP_uc011cqy.2_Missense_Mutation_p.S715L|ERBB2IP_uc003juj.2_Missense_Mutation_p.S715L|ERBB2IP_uc011cqz.2_Intron|ERBB2IP_uc010iwx.2_Missense_Mutation_p.S711L	NM_001253697	NP_001240626	Q96RT1	LAP2_HUMAN	Homo sapiens erbb2 interacting protein (ERBB2IP), transcript variant 1, mRNA.	715					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		TTAAACAGTTCAACAGAGGAA	0.269000														57			21		0	0	1	0	0
EIF4A3	9775	broad.mit.edu	37	17	78110071	78110071	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:78110071G>A	uc010wuc.2	-	10	1120	c.1047C>T	c.(1045-1047)atC>atT	p.I349I	EIF4A3_uc002jxs.3_Silent_p.I349I	NM_014740	NP_055555	P38919	IF4A3_HUMAN	Homo sapiens eukaryotic translation initiation factor 4A3 (EIF4A3), mRNA.	349	Helicase C-terminal.				mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing	catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding	p.L348L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			CATAGTTAATGATGAGGGACA	0.423000														41			5		0	0	1	0	0
LGI2	55203	broad.mit.edu	37	4	25026467	25026467	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:25026467G>A	uc003grf.2	-	3	487	c.388C>T	c.(388-390)Cgt>Tgt	p.R130C		NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 2 (LGI2), mRNA.	130						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				CGGAGGCCACGAAAGGCATTT	0.378000														33			11		0	0	1	0	0
EML2	24139	broad.mit.edu	37	19	46124480	46124480	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:46124480G>A	uc010xxm.2	-	13	1783	c.1710C>T	c.(1708-1710)ttC>ttT	p.F570F	EML2_uc002pcn.3_Silent_p.F369F|EML2_uc002pcp.3_Silent_p.F253F|EML2_uc002pco.3_Non-coding_Transcript|EML2_uc010xxl.2_Silent_p.F516F|EML2_uc010xxn.1_Non-coding_Transcript|EML2_uc010xxo.2_Silent_p.F369F|EML2_uc010ekj.3_Missense_Mutation_p.S336F	NM_001193268	NP_001180197	O95834	EMAL2_HUMAN	Homo sapiens echinoderm microtubule associated protein like 2 (EML2), transcript variant 1, mRNA.	369					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		CCAGCAGTGAGAAGCCTGTGT	0.647000														19			12		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38739944	38739944	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:38739944C>T	uc003ciq.3	-	26	4767	c.4767G>A	c.(4765-4767)gcG>gcA	p.A1589A		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1589					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)	TCCCCTTGGCCGCTCGGATCA	0.522000														74			29		0	0	1	0	0
CHD9	80205	broad.mit.edu	37	16	53337877	53337877	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:53337877C>T	uc002ehb.3	+	29	6123	c.5959C>T	c.(5959-5961)Ctt>Ttt	p.L1987F	CHD9_uc002egy.3_Missense_Mutation_p.L1987F|CHD9_uc002ehc.3_Missense_Mutation_p.L1987F|CHD9_uc002ehf.3_Missense_Mutation_p.L1101F|CHD9_uc002ehg.2_Missense_Mutation_p.L1101F|CHD9_uc010cbw.3_Intron	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	1987					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CTATCACATTCTTCGTGATCC	0.458000														23			29		0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55220290	55220290	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:55220290C>T	uc003tqk.3	+	5	926	c.680C>T	c.(679-681)tCc>tTc	p.S227F	EGFR_uc003tqh.3_Missense_Mutation_p.S227F|EGFR_uc003tqi.3_Missense_Mutation_p.S227F|EGFR_uc003tqj.3_Missense_Mutation_p.S227F|EGFR_uc022adm.1_Missense_Mutation_p.S227F|EGFR_uc010kzg.2_Missense_Mutation_p.S182F|EGFR_uc022adn.1_Missense_Mutation_p.S182F|EGFR_uc011kco.2_Missense_Mutation_p.S174F|EGFR_uc003tql.1_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	227					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.V30_R297>G(5)		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)	CGTGGCAAGTCCCCCAGTGAC	0.612000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				134			83		0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157514170	157514170	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:157514170G>A	uc009wsm.3	-	4	884	c.726C>T	c.(724-726)tcC>tcT	p.S242S	FCRL5_uc001fqu.3_Silent_p.S242S|FCRL5_uc010phv.1_Silent_p.S242S|FCRL5_uc010phw.1_Silent_p.S157S|FCRL5_uc001fqv.1_Silent_p.S242S|FCRL5_uc010phx.2_5'UTR	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	242	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			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)				GGAAATTCGGGGAGAGACTCC	0.522000														118			39		0	0	1	0	0
SLC35B3	51000	broad.mit.edu	37	6	8430148	8430148	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:8430148G>A	uc011did.2	-	2	623	c.246C>T	c.(244-246)ttC>ttT	p.F82F	SLC35B3_uc003myc.3_Non-coding_Transcript|SLC35B3_uc003myd.3_Non-coding_Transcript|SLC35B3_uc010joe.3_Silent_p.F82F|SLC35B3_uc003myb.3_Silent_p.F82F|SLC35B3_uc010jof.2_Silent_p.F50F|SLC35B3_uc011die.1_Silent_p.F82F	NM_001142540	NP_057032	Q9H1N7	S35B3_HUMAN	Homo sapiens solute carrier family 35, member B3 (SLC35B3), transcript variant 2, mRNA.	82					transmembrane transport	Golgi membrane|integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(1)|prostate(1)	15	Ovarian(93;0.0569)					CAACACATATGAAAAACTGAG	0.318000														21			5		0	0	1	0	0
ATRN	8455	broad.mit.edu	37	20	3529890	3529891	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:3529890_3529891CC>TT	uc002wim.2	+	5	1107_1108	c.1017_1018CC>TT	c.(1015-1020)ctcccc>ctTTcc	p.P340S	ATRN_uc002wil.2_Missense_Mutation_p.P340S|ATRN_uc021vzz.1_Missense_Mutation_p.P224S	NM_139321	NP_647537	O75882	ATRN_HUMAN	Homo sapiens attractin (ATRN), transcript variant 1, mRNA.	340					inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						ACTTAAAGCTCCCCAGAGCATC	0.391000														52			18		0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151827063	151827063	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:151827063C>T	uc010ipj.3	-	12	1926	c.1682G>A	c.(1681-1683)gGg>gAg	p.G561E	LRBA_uc003ilu.4_Missense_Mutation_p.G561E|LRBA_uc010ipk.1_Missense_Mutation_p.G480E	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	561						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CAGGGGCATCCCATTCTGCAG	0.373000														39			11		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54306787	54306787	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:54306787G>A	uc021smr.1	+	0	1687	c.1687G>A	c.(1687-1689)Gat>Aat	p.D563N	UNC13C_uc021sms.1_Missense_Mutation_p.D563N	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	563					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTACTCAGAAGATTTTTCAGA	0.423000														12			7		0	0	1	0	0
LYZL1	84569	broad.mit.edu	37	10	29578145	29578145	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:29578145G>A	uc001iul.3	+	0	156	c.99G>A	c.(97-99)agG>agA	p.R33R		NM_032517	NP_115906	Q6UWQ5	LYZL1_HUMAN	Homo sapiens lysozyme-like 1 (LYZL1), mRNA.	0					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			central_nervous_system(1)|cervix(2)|large_intestine(2)|lung(5)|skin(1)	11		Breast(68;0.203)				CAGGCACCAGGAATCTGCCTT	0.507000														8			5		0	0	1	0	0
DBC1	1620	broad.mit.edu	37	9	121976306	121976306	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:121976306C>T	uc004bkc.2	-	5	1269	c.813G>A	c.(811-813)gaG>gaA	p.E271E	DBC1_uc004bkd.2_Silent_p.E271E	NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	271					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GCGGAAACTCCTCGGCACATT	0.557000														52			20		0	0	1	0	0
OR52E8	390079	broad.mit.edu	37	11	5878443	5878443	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:5878443G>A	uc010qzr.2	-	0	490	c.490C>T	c.(490-492)Cca>Tca	p.P164S	TRIM5_uc001mbq.1_Intron	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 8 (OR52E8), mRNA.	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AACACCAGTGGAACAACCATG	0.522000														85			26		0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103317614	103317614	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:103317614A>T	uc002tca.3	+	7	1814	c.1672A>T	c.(1672-1674)Aag>Tag	p.K558*		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	558						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						TTTATATAAAAAGCTTGAAAT	0.328000														18			6		0	0	1	0	0
HFE2	148738	broad.mit.edu	37	1	145415566	145415566	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:145415566C>T	uc001eni.2	+	2	710	c.385C>T	c.(385-387)Ccg>Tcg	p.P129S	HFE2_uc001enk.2_Missense_Mutation_p.P16S|HFE2_uc001enj.2_Intron|HFE2_uc001enl.2_Intron|HFE2_uc021oux.1_5'Flank	NM_213653	NP_660320	Q6ZVN8	RGMC_HUMAN	Homo sapiens hemochromatosis type 2 (juvenile) (HFE2), transcript variant a, mRNA.	129	Poly-Pro.				axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGCCCCTcccccgccccgggg	0.706000														18			19		0	0	1	0	0
SLC2A12	154091	broad.mit.edu	37	6	134328036	134328036	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:134328036C>T	uc003qem.1	-	2	1652	c.1481G>A	c.(1480-1482)gGg>gAg	p.G494E		NM_145176	NP_660159	Q8TD20	GTR12_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 12 (SLC2A12), mRNA.	494						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		TCCTCTGATCCCACCAGGAAA	0.488000														11			13		0	0	1	0	0
CYP1A2	1544	broad.mit.edu	37	15	75044133	75044133	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:75044133C>T	uc002ayr.1	+	3	1044	c.980C>T	c.(979-981)tCc>tTc	p.S327F		NM_000761	NP_000752	P05177	CP1A2_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA.	327					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	ACAGCCATCTCCTGGAGCCTC	0.512000														76			64		0	0	1	0	0
OR10C1	442194	broad.mit.edu	37	6	29407902	29407902	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:29407902C>T	uc011dlp.2	+	0	187	c.110C>T	c.(109-111)aCc>aTc	p.T37I	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily C, member 1 (OR10C1), mRNA.	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TACCTGCTGACCGTGGCAGGC	0.552000														65			47		0	0	1	0	0
COL9A2	1298	broad.mit.edu	37	1	40775636	40775636	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:40775636C>T	uc001cfh.1	-	15	932	c.820G>A	c.(820-822)Ggc>Agc	p.G274S	COL9A2_uc001cfi.1_Missense_Mutation_p.G93S	NM_001852	NP_001843	Q14055	CO9A2_HUMAN	Homo sapiens collagen, type IX, alpha 2 (COL9A2), mRNA.	274	Triple-helical region 3 (COL3).				axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	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;2.08e-17)			CCAGCTCGGCCTGGCGGTCCC	0.627000														105			22		0	0	1	0	0
C15orf32	145858	broad.mit.edu	37	15	93015564	93015564	+	Silent	SNP	C	T	T	rs150605439		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:93015564C>T	uc002brc.1	+	0	658	c.186C>T	c.(184-186)gcC>gcT	p.A62A	C15orf32_uc010bod.1_Non-coding_Transcript	NM_153040	NP_694585	Q32M92	CO032_HUMAN	Homo sapiens chromosome 15 open reading frame 32 (C15orf32), mRNA.	62										endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	12	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			CTATACTAGCCCTTGTTGGGG	0.473000														129			26		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128491562	128491562	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:128491562G>A	uc003vnz.4	+	34	5931	c.5722G>A	c.(5722-5724)Gac>Aac	p.D1908N	FLNC_uc003voa.4_Missense_Mutation_p.D1875N	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	1908					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CACCTGTAAGGACAACAAGGA	0.612000														66			13		0	0	1	0	0
TEX13B	56156	broad.mit.edu	37	X	107225087	107225088	+	Missense_Mutation	DNP	GC	TT	TT			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:107225087_107225088GC>TT	uc004enn.1	-	1	363_364	c.270_271GC>AA	c.(268-273)gtgcag>gtAAag	p.Q91K		NM_031273	NP_112563	Q9BXU2	TX13B_HUMAN	Homo sapiens testis expressed 13B (TEX13B), mRNA.	91										breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						TGCAGCCACTGCACCCTGCGGT	0.599000														30			47		0	0	1	0	0
MSLNL	401827	broad.mit.edu	37	16	825539	825539	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:825539C>T	uc002cjz.1	-	4	1222	c.1222G>A	c.(1222-1224)Gag>Aag	p.E408K		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	Homo sapiens mesothelin-like (MSLNL), mRNA.	115					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						ACTCTGGACTCGCCGTGGCAG	0.697000														10			18		0	0	1	0	0
RSPO4	343637	broad.mit.edu	37	20	948621	948621	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:948621G>A	uc002wej.3	-	1	340	c.240C>T	c.(238-240)atC>atT	p.I80I	RSPO4_uc002wek.3_Silent_p.I80I	NM_001029871	NP_001025042	Q2I0M5	RSPO4_HUMAN	Homo sapiens R-spondin 4 (RSPO4), transcript variant 1, mRNA.	80					Wnt receptor signaling pathway	extracellular region	heparin binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						CCTGGCCGCGGATGCCGAAGT	0.597000														35			36		0	0	1	0	0
CNST	163882	broad.mit.edu	37	1	246810663	246810663	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:246810663C>T	uc001ibp.3	+	8	1538	c.1160C>T	c.(1159-1161)cCa>cTa	p.P387L	CNST_uc001ibo.4_Missense_Mutation_p.P387L	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN	Homo sapiens consortin, connexin sorting protein (CNST), transcript variant 1, mRNA.	387					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						CCGTCTGGGCCAGACTCTTCT	0.592000											OREG0014367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		43			76		0	0	1	0	0
ECE1	1889	broad.mit.edu	37	1	21546549	21546549	+	Missense_Mutation	SNP	G	A	A	rs142918103		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:21546549G>A	uc001bek.2	-	18	2287	c.2212C>T	c.(2212-2214)Cgg>Tgg	p.R738W	ECE1_uc001bem.2_Missense_Mutation_p.R722W|ECE1_uc001bej.2_Missense_Mutation_p.R726W|ECE1_uc001bei.2_Missense_Mutation_p.R735W|ECE1_uc010odl.1_Missense_Mutation_p.R706W	NM_001397	NP_001388	P42892	ECE1_HUMAN	Homo sapiens endothelin converting enzyme 1 (ECE1), transcript variant 1, mRNA.	738					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	Weibel-Palade body|early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		CCGATGACCCGGAAGCGAGAG	0.612000														51			8		0	0	1	0	0
ANGPT2	285	broad.mit.edu	37	8	6378889	6378889	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:6378889G>C	uc003wqj.4	-	3	938	c.609C>G	c.(607-609)atC>atG	p.I203M	MCPH1_uc003wqi.3_Intron|ANGPT2_uc003wqk.4_Missense_Mutation_p.I203M|ANGPT2_uc010lri.3_Missense_Mutation_p.I151M|ANGPT2_uc003wql.4_Missense_Mutation_p.I203M	NM_001147	NP_001138	O15123	ANGP2_HUMAN	Homo sapiens angiopoietin 2 (ANGPT2), transcript variant 1, mRNA.	203					Tie receptor signaling pathway|angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis	extracellular space	metal ion binding|receptor tyrosine kinase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		GTAGTTGGATGATGTGCTTGT	0.323000														33			12		0	0	1	0	0
FUBP3	8939	broad.mit.edu	37	9	133498099	133498099	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:133498099C>T	uc004bzr.1	+	9	884	c.776C>T	c.(775-777)tCt>tTt	p.S259F	FUBP3_uc010mzd.1_Missense_Mutation_p.S199F	NM_003934	NP_003925	Q96I24	FUBP3_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 3 (FUBP3), mRNA.	259	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)		GCCTAGGTATCTGTGCCTAGG	0.408000														36			33		0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69358572	69358572	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:69358572G>A	uc010lyz.3	+	2	775	c.484G>A	c.(484-486)Gga>Aga	p.G162R	C8orf34_uc010lyx.2_Missense_Mutation_p.G162R|C8orf34_uc010lyy.2_Missense_Mutation_p.G162R|C8orf34_uc003xyb.3_Missense_Mutation_p.G51R	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA.	76					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)			AGAATCCAAAGGAACAAGAAG	0.318000														44			10		0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91690648	91690648	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:91690648C>T	uc003ulg.3	+	22	5901	c.5676C>T	c.(5674-5676)tcC>tcT	p.S1892S	AKAP9_uc003ulf.3_Silent_p.S1892S|AKAP9_uc003uli.3_Silent_p.S1515S	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	1904	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding	p.L1905fs*3(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CAACAGAGTCCCTTAAGTGCC	0.473000			T	BRAF	papillary thyroid									39			19		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140811165	140811165	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:140811165C>T	uc003lkt.2	+	0	1008	c.839C>T	c.(838-840)tCc>tTc	p.S280F	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_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc011dba.2_Missense_Mutation_p.S280F	NM_003735	NP_003726	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 12 (PCDHGA12), transcript variant 1, mRNA.	280	Cadherin 3.				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)			GTGAGGTATTCCTTCCGGTAT	0.532000														51			14		0	0	1	0	0
TTF2	8458	broad.mit.edu	37	1	117634561	117634561	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:117634561T>G	uc001egy.3	+	16	2814	c.2794T>G	c.(2794-2796)Tta>Gta	p.L932V	MIR942_uc021osm.1_5'Flank	NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN	Homo sapiens transcription termination factor, RNA polymerase II (TTF2), mRNA.	932					RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		TCATCTTTCTTTACTGAAGTC	0.532000														63			17		0	0	1	0	0
CDHR1	92211	broad.mit.edu	37	10	85965660	85965660	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:85965660G>A	uc001kcv.3	+	9	1045	c.940G>A	c.(940-942)Gag>Aag	p.E314K	CDHR1_uc001kcw.3_Missense_Mutation_p.E314K|CDHR1_uc009xst.3_Missense_Mutation_p.E73K	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	Homo sapiens cadherin-related family member 1 (CDHR1), transcript variant 1, mRNA.	314	Cadherin 3.				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						GCTCCAGAGAGAGGTGTATGA	0.542000											OREG0020333	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		17			5		0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118623790	118623790	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:118623790G>A	uc001ehk.2	-	14	2211	c.2143C>T	c.(2143-2145)Cct>Tct	p.P715S	SPAG17_uc021oss.1_Missense_Mutation_p.P36S	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	715						cilium|flagellar axoneme|microtubule		p.P715A(2)		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)		CTATTATCAGGGACTGAGAGT	0.433000														51			53		0	0	1	0	0
IRF4	3662	broad.mit.edu	37	6	401555	401555	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:401555C>T	uc003msz.4	+	6	1003	c.877C>T	c.(877-879)Ccc>Tcc	p.P293S	IRF4_uc010jne.2_Missense_Mutation_p.P293S|IRF4_uc003mtb.4_Missense_Mutation_p.P292S|IRF4_uc021ykl.1_Missense_Mutation_p.P139S|IRF4_uc003mta.4_Non-coding_Transcript|IRF4_uc003mtc.1_Missense_Mutation_p.P123S	NM_002460	NP_002451	Q15306	IRF4_HUMAN	Homo sapiens interferon regulatory factor 4 (IRF4), transcript variant 1, mRNA.	293					T cell activation|interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		GGTCCTGTTCCCCTACCCAGA	0.612000			T	IGH@	MM									48			8		0	0	1	0	0
CBLN3	643866	broad.mit.edu	37	14	24897527	24897527	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:24897527G>A	uc001wpg.4	-	1	856	c.385C>T	c.(385-387)Cat>Tat	p.H129Y	KHNYN_uc010tpc.2_5'Flank|KHNYN_uc001wph.4_5'Flank|KHNYN_uc010alw.3_5'Flank	NM_001039771	NP_001034860	Q6UW01	CBLN3_HUMAN	Homo sapiens cerebellin 3 precursor (CBLN3), mRNA.	129	C1q.|Necessary for interaction with CBLN3, and homotrimerization (By similarity).					cell junction|extracellular region|synapse				central_nervous_system(1)|lung(3)	4				GBM - Glioblastoma multiforme(265;0.00159)		TTCACCACATGGAACCGGAAG	0.652000														101			43		0	0	1	0	0
MEI1	150365	broad.mit.edu	37	22	42150040	42150040	+	Silent	SNP	T	G	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:42150040T>G	uc003baz.1	+	16	1966	c.1941T>G	c.(1939-1941)ccT>ccG	p.P647P	bK250D10.C22.8_uc003bba.1_Intron|MEI1_uc011apd.1_Non-coding_Transcript|MEI1_uc003bbb.1_Silent_p.P15P|MEI1_uc003bbc.1_Silent_p.P15P|MEI1_uc010gym.1_Silent_p.P15P	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	Homo sapiens meiosis inhibitor 1 (MEI1), mRNA.	647							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CAGGACCACCTTCCAAAGAAG	0.468000														54			16		0	0	1	0	0
CPEB2	132864	broad.mit.edu	37	4	15067977	15067977	+	Silent	SNP	A	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:15067977A>T	uc003gnk.2	+	11	3078	c.3078A>T	c.(3076-3078)ccA>ccT	p.P1026P	CPEB2_uc003gnl.2_Silent_p.P999P|CPEB2_uc003gnm.2_Silent_p.P996P|CPEB2_uc003gni.2_Silent_p.P1018P|CPEB2_uc003gnn.2_Silent_p.P991P|CPEB2_uc003gnj.2_Silent_p.P988P	NM_001177382	NP_001170853	Q7Z5Q1	CPEB2_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 2 (CPEB2), transcript variant D, mRNA.	581					regulation of translation	cytoplasm	RNA binding|nucleotide binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						CTGATCGCCCACGTCAGATCC	0.473000														6			8		0	0	1	0	0
ZNF699	374879	broad.mit.edu	37	19	9406944	9406944	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:9406944G>A	uc002mlc.1	-	4	1136	c.1136C>T	c.(1135-1137)aCt>aTt	p.T379I		NM_198535	NP_940937	Q32M78	ZN699_HUMAN	Homo sapiens zinc finger protein 699 (ZNF699), mRNA.	379					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCCATGTACAGTGAGTTTTGA	0.413000														24			14		0	0	1	0	0
NACAP1	83955	broad.mit.edu	37	8	102381832	102381832	+	RNA	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:102381832G>A	uc010mbs.1	+	2		c.1244G>A								Homo sapiens cDNA FLJ76356 complete cds, highly similar to Homo sapiens nascent-polypeptide-associated complex alpha polypeptide pseudogene 1, mRNA.																		AGCTTGGTTTGAAATTTGTAC	0.303000														41			6		0	0	1	0	0
CPXM2	119587	broad.mit.edu	37	10	125521553	125521553	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:125521553C>T	uc001lhk.1	-	10	1937	c.1612G>A	c.(1612-1614)Gaa>Aaa	p.E538K	CPXM2_uc001lhj.3_Non-coding_Transcript	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	538					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GGGGTGTGTTCCTGCGTCTTC	0.652000														83			25		0	0	1	0	0
SNX25	83891	broad.mit.edu	37	4	186283764	186283764	+	Splice_Site	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:186283764G>A	uc003ixh.3	+	18	2531	c.2342_splice	c.e18-1	p.D781_splice	SNX25_uc010ish.3_Splice_Site_p.D497_splice|SNX25_uc003ixi.3_Splice_Site_p.D285_splice	NM_031953	NP_114159	Q9H3E2	SNX25_HUMAN	Homo sapiens sorting nexin 25 (SNX25), mRNA.	781					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)		TAATTTTTCAGATATGCTTCA	0.368000														170			5		0	0	1	0	0
GTF2A2	2958	broad.mit.edu	37	15	59934455	59934455	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:59934455G>A	uc002agg.3	-	3	366	c.184C>T	c.(184-186)Cta>Tta	p.L62L		NM_004492	NP_004483	P52657	T2AG_HUMAN	Homo sapiens general transcription factor IIA, 2, 12kDa (GTF2A2), mRNA.	62					RNA polymerase II transcriptional preinitiation complex assembly|interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIA complex	TBP-class protein binding|protein heterodimerization activity|protein homodimerization activity|transcription coactivator activity			central_nervous_system(2)|kidney(2)|lung(1)	5						TACGTATTTAGAGAGCCCTTT	0.338000														51			17		0	0	1	0	0
ST8SIA2	8128	broad.mit.edu	37	15	92977603	92977603	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:92977603C>T	uc002bra.3	+	2	443	c.288C>T	c.(286-288)atC>atT	p.I96I	ST8SIA2_uc002brb.3_Silent_p.I75I	NM_006011	NP_006002	Q92186	SIA8B_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 (ST8SIA2), mRNA.	96					N-glycan processing|axon guidance|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	p.R95M(1)|p.I96N(1)		endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			CTCTGAGGATCAGGTACTGGT	0.453000														114			31		0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60921246	60921246	+	Silent	SNP	C	T	T	rs141164486		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:60921246C>T	uc002ycq.3	-	9	1375	c.1308G>A	c.(1306-1308)acG>acA	p.T436T	LAMA5_uc021wfw.1_Silent_p.T436T	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	436	Laminin EGF-like 3.				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)	AGGTGCCATCCGTGAAGTCGG	0.647000														2			9		0	0	1	0	0
SEC16A	9919	broad.mit.edu	37	9	139369770	139369771	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:139369770_139369771GG>AA	uc004chx.3	-	2	2606_2607	c.2297_2298CC>TT	c.(2296-2298)tcc>tTT	p.S766F	SEC16A_uc004chv.4_Missense_Mutation_p.S393F|SEC16A_uc004chw.3_Missense_Mutation_p.S766F|SEC16A_uc010nbn.3_Missense_Mutation_p.S766F|SEC16A_uc010nbo.1_Missense_Mutation_p.S766F	NM_014866	NP_055681	O15027	SC16A_HUMAN	Homo sapiens SEC16 homolog A (S. cerevisiae) (SEC16A), mRNA.	588					protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		ACTGCTGCCCGGACATCGCCTC	0.599000														21			13		0	0	1	0	0
PTPRE	5791	broad.mit.edu	37	10	129869120	129869120	+	Silent	SNP	T	C	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:129869120T>C	uc009yat.3	+	15	1792	c.1375T>C	c.(1375-1377)Ttg>Ctg	p.L459L	PTPRE_uc001lkb.3_Silent_p.L448L|PTPRE_uc009yau.2_Silent_p.L448L|PTPRE_uc001lkd.3_Silent_p.L390L|PTPRE_uc010quq.1_Silent_p.L349L	NM_006504	NP_006495	P23469	PTPRE_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, E (PTPRE), transcript variant 1, mRNA.	448	Tyrosine-protein phosphatase 2.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				GACGGGCAACTTGCCGGCAAA	0.562000														26			3		0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121206691	121206691	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:121206691G>A	uc003eee.4	-	15	5216	c.5087C>T	c.(5086-5088)tCt>tTt	p.S1696F	POLQ_uc003eed.3_Missense_Mutation_p.S868F	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	1696					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		ATTATTAGAAGAAAATGAAAT	0.303000								DNA polymerases (catalytic subunits)						39			11		0	0	1	0	0
CLYBL	171425	broad.mit.edu	37	13	100523245	100523245	+	Missense_Mutation	SNP	C	T	T	rs147230521		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr13:100523245C>T	uc001vok.3	+	6	887	c.856C>T	c.(856-858)Cct>Tct	p.P286S	CLYBL_uc010tiy.2_Missense_Mutation_p.P252S	NM_206808	NP_996531	Q8N0X4	CLYBL_HUMAN	Homo sapiens citrate lyase beta like (CLYBL), mRNA.	286					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)					GCAGTTTTCTCCTTCCCCTGA	0.408000														12			24		0	0	1	0	0
XRCC4	7518	broad.mit.edu	37	5	82406865	82406865	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:82406865C>T	uc003kib.3	+	2	286	c.158C>T	c.(157-159)tCc>tTc	p.S53F	XRCC4_uc003kia.1_Missense_Mutation_p.S53F|XRCC4_uc003kic.3_Missense_Mutation_p.S53F|XRCC4_uc003kid.3_Missense_Mutation_p.S53F|XRCC4_uc003kie.3_Missense_Mutation_p.S53F	NM_022406	NP_071801	Q13426	XRCC4_HUMAN	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 4 (XRCC4), transcript variant 2, mRNA.	53					DNA ligation involved in DNA repair|double-strand break repair via nonhomologous end joining|initiation of viral infection|positive regulation of ligase activity|provirus integration|response to X-ray	DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|cytosol|nucleoplasm	DNA binding|protein C-terminus binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(2)|skin(3)	17		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)		TCAGAGATTTCCCAAGAAGCT	0.338000								Non-homologous end-joining						12			5		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73377025	73377025	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:73377025C>T	uc001jrx.4	+	10	1399	c.1009C>T	c.(1009-1011)Ctg>Ttg	p.L337L	CDH23_uc001jrw.4_Silent_p.L337L|CDH23_uc001jry.3_Silent_p.L337L|CDH23_uc001jrz.3_Silent_p.L337L|CDH23_uc021psl.1_Silent_p.L337L|CDH23_uc009xql.3_Silent_p.L337L	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	337	Cadherin 3.				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						CTTCAATATCCTGGTTATTGA	0.557000														27			5		0	0	1	0	0
C17orf64	124773	broad.mit.edu	37	17	58504103	58504103	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:58504103C>T	uc002iyq.3	+	3	443	c.354C>T	c.(352-354)ctC>ctT	p.L118L		NM_181707	NP_859058	Q86WR6	CQ064_HUMAN	Homo sapiens chromosome 17 open reading frame 64 (C17orf64), mRNA.	118										breast(2)|large_intestine(1)|lung(3)	6	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;5.81e-13)|all cancers(12;2.17e-11)|Colorectal(3;0.01)			TCATCTCCCTCTTCTCGGAGC	0.602000														22			5		0	0	1	0	0
TFIP11	24144	broad.mit.edu	37	22	26895328	26895328	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:26895328C>T	uc003acr.2	-	7	1445	c.1071G>A	c.(1069-1071)gaG>gaA	p.E357E	TFIP11_uc003acs.2_Silent_p.E357E|TFIP11_uc003act.2_Silent_p.E357E	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN	Homo sapiens tuftelin interacting protein 11 (TFIP11), transcript variant 2, mRNA.	357					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						CGGTCATCTTCTCCAGCTCGT	0.602000														33			48		0	0	1	0	0
KRT86	3892	broad.mit.edu	37	12	52699979	52699979	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:52699979G>A	uc010snq.2	+	7	1295	c.1162G>A	c.(1162-1164)Gag>Aag	p.E388K	KRT86_uc009zmg.3_Missense_Mutation_p.E388K|KRT81_uc001sac.3_Intron|KRT86_uc001sad.3_Missense_Mutation_p.E388K	NM_002284	NP_002275	O43790	KRT86_HUMAN	Homo sapiens keratin 86 (KRT86), mRNA.	388	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCTGATCAGGGAGTACCAGGA	0.652000											OREG0021845	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		73			23		0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963314	73963314	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:73963314C>T	uc004eby.3	-	2	1695	c.1078G>A	c.(1078-1080)Gat>Aat	p.D360N		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	360					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TGGGAAAAATCACTGCTCTGC	0.473000														11			26		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183664489	183664489	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:183664489C>T	uc003ivd.1	+	17	3621	c.3546C>T	c.(3544-3546)atC>atT	p.I1182I	ODZ3_uc003ive.1_Silent_p.I588I	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1182					signal transduction	integral to membrane		p.G1181V(2)		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)		CTTGTGGGATCGATGGCAGTC	0.498000														37			6		0	0	1	0	0
OR13C8	138802	broad.mit.edu	37	9	107332146	107332146	+	Missense_Mutation	SNP	G	A	A	rs150858980		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:107332146G>A	uc011lvo.2	+	0	698	c.698G>A	c.(697-699)gGa>gAa	p.G233E		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA.	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G233E(2)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TCCACTGAAGGAAAACATAAG	0.418000														42			13		0	0	1	0	0
CACNG5	27091	broad.mit.edu	37	17	64873523	64873523	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:64873523G>A	uc010wqi.2	+	1	310	c.73G>A	c.(73-75)Ggt>Agt	p.G25S	CACNG5_uc010wqj.2_Missense_Mutation_p.G25S	NM_145811	NP_665810	Q9UF02	CCG5_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 5 (CACNG5), mRNA.	25					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			GGGCCTCCTGGGTATCGCGGT	0.597000														88			31		0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123332963	123332963	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:123332963C>T	uc003ego.3	-	33	6016	c.5734G>A	c.(5734-5736)Gaa>Aaa	p.E1912K	MYLK-AS1_uc003egk.3_Intron|MYLK_uc003egl.3_Missense_Mutation_p.E152K|MYLK_uc003egm.3_Missense_Mutation_p.E151K|MYLK_uc010hrr.3_Missense_Mutation_p.E347K|MYLK_uc011bjv.2_Missense_Mutation_p.E712K|MYLK_uc011bjw.2_Missense_Mutation_p.E1911K|MYLK_uc003egp.3_Missense_Mutation_p.E1843K|MYLK_uc003egq.3_Missense_Mutation_p.E1861K|MYLK_uc003egr.3_Missense_Mutation_p.E1792K|MYLK_uc003egs.3_Missense_Mutation_p.E1736K	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1912	Poly-Glu.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CACTCTTCTTCCTCTTCCCCT	0.408000														141			44		0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111603144	111603144	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:111603144C>T	uc010hqa.3	+	1	631	c.220C>T	c.(220-222)Cct>Tct	p.P74S	PHLDB2_uc003dyc.3_Missense_Mutation_p.P101S|PHLDB2_uc003dyd.3_Missense_Mutation_p.P74S|PHLDB2_uc003dyg.3_Missense_Mutation_p.P74S|PHLDB2_uc003dyh.3_Missense_Mutation_p.P74S|PHLDB2_uc003dye.4_Missense_Mutation_p.P74S|PHLDB2_uc003dyf.4_Missense_Mutation_p.P74S	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	74						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						AAGCCCTTCTCCTTTGGGAAC	0.443000														142			44		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106994006	106994006	+	RNA	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:106994006C>T	uc021ser.1	-	233		c.9248G>A								Parts of antibodies, mostly variable regions.																		GGACCCAGTTCATGCTATAGC	0.557000														49			89		0	0	1	0	0
GAA	2548	broad.mit.edu	37	17	78082361	78082361	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:78082361C>T	uc002jxp.3	+	6	1516	c.1149C>T	c.(1147-1149)atC>atT	p.I383I	GAA_uc002jxo.3_Silent_p.I383I|GAA_uc002jxq.3_Silent_p.I383I	NM_000152	NP_001073272	P10253	LYAG_HUMAN	Homo sapiens glucosidase, alpha; acid (GAA), transcript variant 1, mRNA.	383					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	CCACCGCTATCACCCGCCAGG	0.667000														20			14		0	0	1	0	0
SENP1	29843	broad.mit.edu	37	12	48468176	48468176	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:48468176G>A	uc001rqx.3	-	7	1317	c.871C>T	c.(871-873)Cat>Tat	p.H291Y	SENP1_uc001rqw.3_Missense_Mutation_p.H291Y|SENP1_uc001rqy.3_Missense_Mutation_p.H92Y|SENP1_uc001rqz.3_Missense_Mutation_p.H92Y|SENP1_uc009zkx.3_Missense_Mutation_p.H291Y	NM_014554	NP_055369	Q9P0U3	SENP1_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 1 (SENP1), mRNA.	291	His-rich.				activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	SUMO-specific protease activity|endopeptidase activity			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				TGATGGGGATGATGAAGAGTA	0.388000														86			17		0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52100487	52100487	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:52100487C>T	uc001ryw.3	+	10	1801	c.1623C>T	c.(1621-1623)tcC>tcT	p.S541S	SCN8A_uc010snl.2_Silent_p.S541S|SCN8A_uc001ryx.1_Silent_p.S406S|SCN8A_uc001ryz.1_Silent_p.S406S|SCN8A_uc001ryy.2_Silent_p.S406S	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA.	541					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)	GGAAATTTTCCATCATGAATC	0.358000														8			6		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100388730	100388730	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:100388730C>T	uc003uwj.3	+	40	7686	c.7521C>T	c.(7519-7521)ttC>ttT	p.F2507F	ZAN_uc003uwk.3_Silent_p.F2507F|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kke.2_Intron	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	2508	VWFD 4.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TCCTGCGCTTCCCCAGGTGCA	0.607000														16			4		0	0	1	0	0
LTA	4049	broad.mit.edu	37	6	31541065	31541065	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:31541065C>T	uc011dnu.1	+	3	426	c.213C>T	c.(211-213)ccC>ccT	p.P71P	LTA_uc003nue.1_Silent_p.P71P|LTA_uc003nuf.3_Intron|LTA_uc003nuh.3_Silent_p.P18P|LTA_uc003nug.3_Silent_p.P18P|LTA_uc010jsr.3_Intron|TNF_uc003nui.3_5'Flank	NM_001159740	NP_001153212	P01374	TNFB_HUMAN	Homo sapiens lymphotoxin alpha (TNF superfamily, member 1) (LTA), transcript variant 1, mRNA.	71					cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9					Etanercept(DB00005)	TAGGAGACCCCAGCAAGCAGA	0.562000														34			23		0	0	1	0	0
USP40	55230	broad.mit.edu	37	2	234436094	234436094	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:234436094T>A	uc010zmr.2	-	11	1717	c.1717A>T	c.(1717-1719)Aaa>Taa	p.K573*	USP40_uc010zmt.1_Nonsense_Mutation_p.K217*	NM_018218	NP_060688	Q9NVE5	UBP40_HUMAN	Homo sapiens ubiquitin specific peptidase 40 (USP40), mRNA.	561					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		GTTTTTCTTTTATCAAAGGTC	0.438000														21			12		0	0	1	0	0
CCBP2	1238	broad.mit.edu	37	3	42906179	42906179	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:42906179G>A	uc003cme.3	+	2	363	c.185G>A	c.(184-186)aGc>aAc	p.S62N	CCBP2_uc003cmf.3_Missense_Mutation_p.S62N|CCBP2_uc003cmg.3_Intron|CCBP2_uc021wwm.1_Missense_Mutation_p.S62N	NM_001296	NP_001287	O00590	CCBP2_HUMAN	Homo sapiens chemokine binding protein 2 (CCBP2), mRNA.	62					chemotaxis|immune response|multicellular organismal development	integral to plasma membrane	C-X-C chemokine receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(10)|skin(2)|urinary_tract(1)	26				KIRC - Kidney renal clear cell carcinoma(284;0.241)		TTGGGCCTCAGCGGGAACCTC	0.517000														51			63		0	0	1	0	0
ABLIM2	84448	broad.mit.edu	37	4	8038002	8038002	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:8038002G>A	uc003gko.3	-	9	1064	c.921C>T	c.(919-921)atC>atT	p.I307I	ABLIM2_uc003gkl.3_Silent_p.I57I|ABLIM2_uc003gkm.4_Silent_p.I307I|ABLIM2_uc003gkp.3_Silent_p.I307I|ABLIM2_uc003gkq.3_Silent_p.I307I|ABLIM2_uc003gkr.3_Silent_p.I307I|ABLIM2_uc003gkj.4_Silent_p.I307I|ABLIM2_uc003gks.3_Silent_p.I307I|ABLIM2_uc011bwl.1_Silent_p.I312I	NM_001130084	NP_001123556	Q6H8Q1	ABLM2_HUMAN	Homo sapiens actin binding LIM protein family, member 2 (ABLIM2), transcript variant 2, mRNA.	307					axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						TGTAGTCCAGGATCTCACCAC	0.572000														32			10		0	0	1	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142264914	142264914	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:142264914G>A	uc011dbj.2	+	4	471	c.436G>A	c.(436-438)Gaa>Aaa	p.E146K	ARHGAP26_uc003lmt.3_Missense_Mutation_p.E146K|ARHGAP26_uc003lmw.3_Missense_Mutation_p.E146K	NM_015071	NP_055886	Q9UNA1	RHG26_HUMAN	Homo sapiens Rho GTPase activating protein 26 (ARHGAP26), transcript variant 1, mRNA.	146					actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	Rho GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGCATCTTAGAAAAACACTT	0.338000														34			12		0	0	1	0	0
OR5A1	219982	broad.mit.edu	37	11	59210993	59210993	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:59210993C>T	uc001nnx.1	+	0	352	c.352C>T	c.(352-354)Ctg>Ttg	p.L118L		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily A, member 1 (OR5A1), mRNA.	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L118L(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						GTGCCTCCTCCTGACTGCTAT	0.542000														172			53		0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102266332	102266332	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:102266332C>T	uc003pqp.4	+	8	1584	c.1291C>T	c.(1291-1293)Cgt>Tgt	p.R431C	GRIK2_uc003pqn.3_Missense_Mutation_p.R431C|GRIK2_uc010kcw.3_Missense_Mutation_p.R431C|GRIK2_uc003pqo.4_Missense_Mutation_p.R431C|GRIK2_uc021zdk.1_Missense_Mutation_p.R431C|GRIK2_uc021zdl.1_Non-coding_Transcript	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA.	431					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	CTTATCCAATCGTTCTTTGAT	0.368000														8			6		0	0	1	0	0
ODF1	4956	broad.mit.edu	37	8	103573050	103573050	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:103573050G>A	uc003ykt.2	+	1	799	c.691G>A	c.(691-693)Gat>Aat	p.D231N		NM_024410	NP_077721	Q14990	ODFP1_HUMAN	Homo sapiens outer dense fiber of sperm tails 1 (ODF1), mRNA.	231	C-X-P repeat region.				cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			cagcccATATGATCCTTGCAA	0.532000														53			7		0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92734891	92734891	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:92734891G>A	uc003umf.3	-	2	790	c.520C>T	c.(520-522)Cgt>Tgt	p.R174C	SAMD9_uc003umg.3_Missense_Mutation_p.R174C|SAMD9_uc022ahg.1_Missense_Mutation_p.R174C	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	174						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			AACTTGTAACGATATGGATTA	0.378000														96			37		0	0	1	0	0
PDILT	204474	broad.mit.edu	37	16	20373828	20373828	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:20373828G>A	uc002dhc.1	-	9	1537	c.1314C>T	c.(1312-1314)tcC>tcT	p.S438S		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA.	438	Thioredoxin.				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			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						TGATAATTGTGGAGTGGTTTT	0.483000														18			19		0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66878805	66878805	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:66878805C>T	uc002jhq.3	-	29	4103	c.3763G>A	c.(3763-3765)Gat>Aat	p.D1255N	ABCA8_uc002jhp.3_Missense_Mutation_p.D1215N|ABCA8_uc010wqq.2_Missense_Mutation_p.D1250N	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	1215	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.G1255S(1)|p.G1255C(1)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					ACATCTTCATCCTCTCCTTCT	0.348000														75			8		0	0	1	0	0
NFATC2	4773	broad.mit.edu	37	20	50139769	50139769	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:50139769G>A	uc002xwd.3	-	1	1231	c.1011C>T	c.(1009-1011)tcC>tcT	p.S337S	NFATC2_uc002xwc.3_Silent_p.S337S|NFATC2_uc010zyv.2_Silent_p.S118S|NFATC2_uc010zyw.2_Silent_p.S118S|NFATC2_uc002xwe.3_Silent_p.S317S|NFATC2_uc010zyx.2_Silent_p.S317S|NFATC2_uc010zyy.2_Silent_p.S118S|NFATC2_uc010zyz.2_Silent_p.S118S	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 (NFATC2), transcript variant 2, mRNA.	337					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GGCCGGCCTTGGATGGGGCGG	0.672000														73			23		0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	192992935	192992935	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:192992935C>T	uc011bsq.2	-	29	3553	c.3553G>A	c.(3553-3555)Gga>Aga	p.G1185R		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	1185					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)		ATGTAGAATCCATTTTTGCCA	0.438000														99			26		0	0	1	0	0
HR	55806	broad.mit.edu	37	8	21984571	21984571	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:21984571C>T	uc003xas.3	-	2	2049	c.1384G>A	c.(1384-1386)Gga>Aga	p.G462R	HR_uc003xat.3_Missense_Mutation_p.G462R	NM_005144	NP_005135	O43593	HAIR_HUMAN	Homo sapiens hairless homolog (mouse) (HR), transcript variant 1, mRNA.	462							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		TCATGCTGTCCCGAGTCCACA	0.672000														88			25		0	0	1	0	0
PIPSL	266971	broad.mit.edu	37	10	95720799	95720799	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:95720799C>T	uc009xuj.2	-	0	874	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K						Homo sapiens PIP5K1A and PSMD4-like, pseudogene (PIPSL), non-coding RNA.																		CTACAGAGTTCAATCAGCGGC	0.488000														33			10		0	0	1	0	0
PMS2	5395	broad.mit.edu	37	7	6042189	6042189	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:6042189G>C	uc003spl.3	-	4	519	c.432C>G	c.(430-432)atC>atG	p.I144M	PMS2_uc003spj.3_Missense_Mutation_p.I38M|PMS2_uc003spk.3_Missense_Mutation_p.I9M|PMS2_uc011jwl.2_Missense_Mutation_p.I9M|PMS2_uc010ktg.3_5'UTR|PMS2_uc010kte.3_Missense_Mutation_p.I144M|PMS2_uc010ktf.2_Missense_Mutation_p.I144M	NM_000535	NP_000526	P54278	PMS2_HUMAN	Homo sapiens PMS2 postmeiotic segregation increased 2 (S. cerevisiae) (PMS2), transcript variant 1, mRNA.	144					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding	p.I143I(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		GGGTTTTCTGGATAATTTTCC	0.493000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					82			24		0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42794675	42794675	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:42794675C>T	uc002otf.1	+	9	1795	c.1755C>T	c.(1753-1755)tcC>tcT	p.S585S		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	585	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)				CGACACCTTCCAAGGCAACCC	0.682000			"""Mis, F, S"""		oligodendroglioma									70			35		0	0	1	0	0
UIMC1	51720	broad.mit.edu	37	5	176409486	176409486	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:176409486G>A	uc021yil.1	-	1	298	c.131C>T	c.(130-132)tCc>tTc	p.S44F	UIMC1_uc021yim.1_Missense_Mutation_p.S44F|UIMC1_uc021yin.1_Missense_Mutation_p.S44F|UIMC1_uc003mfd.2_5'UTR|UIMC1_uc021yio.1_Missense_Mutation_p.S44F|UIMC1_uc011dfq.2_Missense_Mutation_p.S44F	NM_016290	NP_057374	Q96RL1	UIMC1_HUMAN	Homo sapiens ubiquitin interaction motif containing 1 (UIMC1), transcript variant 2, mRNA.	44	Necessary for transcriptional repression.				G2/M transition DNA damage checkpoint|double-strand break repair|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	K63-linked polyubiquitin binding|histone binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATCACTATCGGATATCACAAT	0.453000														71			22		0	0	1	0	0
COL6A2	1292	broad.mit.edu	37	21	47541502	47541502	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr21:47541502C>T	uc002zia.1	+	17	1573	c.1491C>T	c.(1489-1491)ccC>ccT	p.P497P	COL6A2_uc002zhz.1_Silent_p.P497P|COL6A2_uc002zhy.1_Silent_p.P497P	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	497	Triple-helical region.				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)		ATGCAGGACCCCGTGGAGACT	0.657000														33			5		0	0	1	0	0
ZFP3	124961	broad.mit.edu	37	17	4994885	4994885	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:4994885C>T	uc002gaq.3	+	1	211	c.86C>T	c.(85-87)cCa>cTa	p.P29L	ZFP3_uc021tog.1_Missense_Mutation_p.P29L	NM_153018	NP_694563	Q96NJ6	ZFP3_HUMAN	Homo sapiens zinc finger protein 3 homolog (mouse) (ZFP3), mRNA.	29					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						GAAAAATTTCCAAAAGTGGTT	0.423000														29			11		0	0	1	0	0
TLN1	7094	broad.mit.edu	37	9	35700363	35700363	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:35700363G>A	uc003zxt.2	-	48	6839	c.6485C>T	c.(6484-6486)tCc>tTc	p.S2162F		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Homo sapiens talin 1 (TLN1), mRNA.	2162					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	LIM domain binding|actin binding|insulin receptor binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGGCTCTGGGGAACAGAAAAC	0.517000														17			14		0	0	1	0	0
OR51B5	282763	broad.mit.edu	37	11	5364610	5364610	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:5364610C>T	uc001map.1	-	0	145	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Missense_Mutation_p.E49K	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 5 (OR51B5), transcript variant 1, mRNA.	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		TTGTGATCTTCCTTAATGAGA	0.498000														26			12		0	0	1	0	0
SRPK2	6733	broad.mit.edu	37	7	104786954	104786954	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:104786954G>A	uc003vct.3	-	6	927	c.740C>T	c.(739-741)cCt>cTt	p.P247L	SRPK2_uc003vcu.3_Missense_Mutation_p.P247L|SRPK2_uc003vcv.3_Missense_Mutation_p.P258L|SRPK2_uc003vcw.1_Missense_Mutation_p.P247L	NM_182691	NP_872633	P78362	SRPK2_HUMAN	Homo sapiens SRSF protein kinase 2 (SRPK2), transcript variant 2, mRNA.	247	Protein kinase.				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						AGACCCTGAAGGAGGAGGAGC	0.502000														20			8		0	0	1	0	0
KMO	8564	broad.mit.edu	37	1	241728295	241728295	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:241728295G>A	uc009xgp.3	+	7	935	c.624G>A	c.(622-624)atG>atA	p.M208I	KMO_uc001hyy.3_Missense_Mutation_p.M248I|KMO_uc009xgo.2_Missense_Mutation_p.M248I	NM_003679	NP_003670	O15229	KMO_HUMAN	Homo sapiens kynurenine 3-monooxygenase (kynurenine 3-hydroxylase) (KMO), mRNA.	208					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	NAD(P)H oxidase activity|electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity	p.M208I(2)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			AGTATGCCATGGAACCTAATT	0.303000														16			20		0	0	1	0	0
SBF1	6305	broad.mit.edu	37	22	50902970	50902970	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:50902970G>A	uc003blh.3	-	13	1824	c.1629C>T	c.(1627-1629)ccC>ccT	p.P543P	SBF1_uc011arx.2_Silent_p.P207P|SBF1_uc003bli.2_Silent_p.P544P	NM_002972	NP_002963	O95248	MTMR5_HUMAN	Homo sapiens SET binding factor 1 (SBF1), mRNA.	543					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)		CACTCATGGGGGGCCCTGAGG	0.677000														83			17		0	0	1	0	0
MSLNL	401827	broad.mit.edu	37	16	822691	822691	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:822691C>T	uc002cjz.1	-	11	2416	c.2416G>A	c.(2416-2418)Gag>Aag	p.E806K		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	Homo sapiens mesothelin-like (MSLNL), mRNA.	455					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CACCGGAGCTCCTGGGGATGG	0.667000														3			5		0	0	1	0	0
UCP3	7352	broad.mit.edu	37	11	73712523	73712523	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:73712523G>A	uc001our.3	-	6	1228	c.873C>T	c.(871-873)ttC>ttT	p.F291F		NM_003356	NP_003347	P55916	UCP3_HUMAN	Homo sapiens uncoupling protein 3 (mitochondrial, proton carrier) (UCP3), nuclear gene encoding mitochondrial protein, transcript variant long, mRNA.	291	Purine nucleotide binding (By similarity).				mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					CATAGGTTACGAACATCACCA	0.478000														20			10		0	0	1	0	0
WDR33	55339	broad.mit.edu	37	2	128477558	128477558	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:128477558G>A	uc002tpg.2	-	15	2240	c.2041C>T	c.(2041-2043)Cct>Tct	p.P681S		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.	681	Collagen-like.				postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TGAGGTCCAGGATGCCTCTGC	0.642000														11			36		0	0	1	0	0
DAAM2	23500	broad.mit.edu	37	6	39851782	39851782	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:39851782G>T	uc003oow.3	+	14	2029	c.1890G>T	c.(1888-1890)caG>caT	p.Q630H	DAAM2_uc003oox.3_Missense_Mutation_p.Q630H|AX747174_uc003ooz.1_Non-coding_Transcript	NM_001201427	NP_001188356	Q86T65	DAAM2_HUMAN	Homo sapiens dishevelled associated activator of morphogenesis 2 (DAAM2), transcript variant 1, mRNA.	630	FH2.				actin cytoskeleton organization		Rho GTPase binding|actin binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					ATGACATGCAGGTATTTCGGA	0.493000														17			6		0.00116845	0.0011723	1	1	0
PPP2R5B	5526	broad.mit.edu	37	11	64695306	64695306	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:64695306C>T	uc001obz.3	+	2	722	c.429C>T	c.(427-429)ccC>ccT	p.P143P	PPP2R5B_uc001oby.3_Silent_p.P143P	NM_006244	NP_006235	Q15173	2A5B_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B', beta (PPP2R5B), mRNA.	143					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						CTCTGCCGCCCAGTGAGAACC	0.522000														35			11		0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	120980156	120980156	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:120980156C>T	uc010rzo.2	+	2	435	c.435C>T	c.(433-435)ttC>ttT	p.F145F		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	145	NIDO.				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)		CTTGGGTTTTCATTGTGACAT	0.438000														9			8		0	0	1	0	0
PTCHD4	442213	broad.mit.edu	37	6	47846162	47846162	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:47846162G>A	uc011dwm.2	-	2	2452	c.2418C>T	c.(2416-2418)ttC>ttT	p.F806F	PTCHD4_uc011dwn.2_Silent_p.F553F	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	Homo sapiens chromosome 6 open reading frame 138 (C6orf138), transcript variant 1, mRNA.	806						integral to membrane	hedgehog receptor activity										AAAACGTTAGGAACACAGGTA	0.433000														57			18		0	0	1	0	0
LOC440040	440040	broad.mit.edu	37	11	49598271	49598271	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:49598271C>T	uc010rhy.2	+	1	862	c.384C>T	c.(382-384)gtC>gtT	p.V128V	LOC440040_uc009ymb.3_Silent_p.V128V					Homo sapiens glutamate receptor, metabotropic 5 pseudogene (LOC440040), non-coding RNA.																		CCATTCAGGTCCAGAATTTGC	0.483000														20			7		0	0	1	0	0
TAF1C	9013	broad.mit.edu	37	16	84215258	84215258	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:84215258G>A	uc002fhn.3	-	8	1288	c.1046C>T	c.(1045-1047)cCc>cTc	p.P349L	TAF1C_uc010vnz.2_Missense_Mutation_p.P17L|TAF1C_uc002fho.3_5'UTR|TAF1C_uc010voa.2_Missense_Mutation_p.P17L|TAF1C_uc002fhm.3_Missense_Mutation_p.P256L|TAF1C_uc010vnx.2_Missense_Mutation_p.P323L|TAF1C_uc010vny.2_5'UTR|TAF1C_uc010vob.2_Missense_Mutation_p.P323L	NM_005679	NP_001230088	Q15572	TAF1C_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa (TAF1C), transcript variant 1, mRNA.	349					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						CAGCTCCCCGGGCAGGTGAGG	0.662000														23			11		0	0	1	0	0
GABRQ	55879	broad.mit.edu	37	X	151821475	151821475	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:151821475C>T	uc004ffp.1	+	8	1650	c.1630C>T	c.(1630-1632)Ctt>Ttt	p.L544F		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, theta (GABRQ), mRNA.	544						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			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)					GAGCGACTGCCTTGCCATTAA	0.527000														11			53		0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55331446	55331446	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:55331446C>T	uc002qhl.4	+	3	697	c.634C>T	c.(634-636)Ccc>Tcc	p.P212S	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc021vbm.1_Missense_Mutation_p.P212S|KIR3DL2_uc010esf.3_Missense_Mutation_p.P117S|KIR3DL2_uc021vbo.1_Missense_Mutation_p.P212S|KIR3DL2_uc002qhk.4_Missense_Mutation_p.P212S			P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA.	212					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity	p.P212P(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		TCCCAGTGATCCCCTGGACAT	0.527000														62			15		0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121298204	121298204	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:121298204C>T	uc003yox.3	+	32	4337	c.4072C>T	c.(4072-4074)Cac>Tac	p.H1358Y	COL14A1_uc003yoz.3_Missense_Mutation_p.H323Y	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1358	Nonhelical region (NC4).|TSP N-terminal.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TGGAAGCTTTCACAAGGTTAG	0.318000														27			19		0	0	1	0	0
KRT34	3885	broad.mit.edu	37	17	39538563	39538564	+	Nonsense_Mutation	DNP	CT	TA	TA			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:39538563_39538564CT>TA	uc002hwm.3	-	0	73_74	c.61_62AG>TA	c.(61-63)aga>TAa	p.R21*		NM_021013	NP_066293	O76011	KRT34_HUMAN	Homo sapiens keratin 34 (KRT34), mRNA.	21	Head.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				AGGTTTGAGTCTCTCCTTCCTC	0.485000														57			6		0	0	1	0	0
LAT	27040	broad.mit.edu	37	16	28997730	28997730	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:28997730C>T	uc010vdj.2	+	5	417	c.381C>T	c.(379-381)tcC>tcT	p.S127S	NPIPL1_uc010vct.2_Intron|LAT_uc002dsb.3_Silent_p.S91S|LAT_uc002dsd.3_Silent_p.S91S|LAT_uc002dsc.3_Silent_p.S90S|LAT_uc010vdk.1_Silent_p.S91S|LAT_uc010vdl.1_Silent_p.S90S	NM_001014989	NP_001014987	O43561	LAT_HUMAN	Homo sapiens linker for activation of T cells (LAT), transcript variant 4, mRNA.	91					Ras protein signal transduction|T cell receptor signaling pathway|calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|regulation of T cell activation	immunological synapse|integral to membrane|intracellular|membrane raft	SH3/SH2 adaptor activity			large_intestine(2)|lung(3)|urinary_tract(1)	6		Hepatocellular(780;0.244)				TTGGGGGCTCCCACCGGACGC	0.637000														55			42		0	0	1	0	0
EML1	2009	broad.mit.edu	37	14	100380551	100380551	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:100380551C>T	uc001ygr.3	+	14	1656	c.1587C>T	c.(1585-1587)gcC>gcT	p.A529A	EML1_uc010tww.2_Silent_p.A498A|EML1_uc001ygs.3_Silent_p.A510A	NM_001008707	NP_001008707	O00423	EMAL1_HUMAN	Homo sapiens echinoderm microtubule associated protein like 1 (EML1), transcript variant 1, mRNA.	510						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				GGACAGTGGCCGAGGGGAAAG	0.453000														31			9		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140724476	140724476	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:140724476C>T	uc003ljm.2	+	0	876	c.876C>T	c.(874-876)ttC>ttT	p.F292F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Silent_p.F292F	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	293	Cadherin 3.				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)			CTGAGATTTTCCATCTTAACT	0.413000														23			10		0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15263059	15263059	+	Splice_Site	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:15263059C>T	uc001iob.3	-	6	762	c.755_splice	c.e6-1	p.G252_splice		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	252						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CAGCCACGTTCCTGTGGAATT	0.498000														34			10		0	0	1	0	0
PFKP	5214	broad.mit.edu	37	10	3150963	3150963	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:3150963C>T	uc001igp.3	+	8	1017	c.941C>T	c.(940-942)cCt>cTt	p.P314L	PFKP_uc001igq.3_Missense_Mutation_p.P306L|PFKP_uc009xhr.3_Missense_Mutation_p.P276L|PFKP_uc009xhs.1_Missense_Mutation_p.P98L|PFKP_uc009xht.3_Missense_Mutation_p.P52L	NM_002627	NP_002618	Q01813	K6PP_HUMAN	Homo sapiens phosphofructokinase, platelet (PFKP), transcript variant 1, mRNA.	314					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		GGAGGGACCCCTTCGGCATTC	0.582000														45			21		0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19451539	19451539	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:19451539G>A	uc002dgc.4	+	2	928	c.179G>A	c.(178-180)aGa>aAa	p.R60K	TMC5_uc010vaq.2_Missense_Mutation_p.R60K|TMC5_uc002dgb.4_Missense_Mutation_p.R60K|TMC5_uc010var.2_Missense_Mutation_p.R60K	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	60						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GTAGCCTCCAGAACACGTCCA	0.483000														36			26		0	0	1	0	0
SCYL2	55681	broad.mit.edu	37	12	100720413	100720413	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:100720413C>T	uc001thn.3	+	11	1573	c.1523C>T	c.(1522-1524)tCa>tTa	p.S508L	SCYL2_uc009ztw.1_Missense_Mutation_p.S335L|SCYL2_uc001thm.1_Missense_Mutation_p.S508L	NM_017988	NP_060458	Q6P3W7	SCYL2_HUMAN	Homo sapiens SCY1-like 2 (S. cerevisiae) (SCYL2), mRNA.	508					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						CGTGTAAATTCATTAGTGTGC	0.303000														36			9		0	0	1	0	0
LCE3A	353142	broad.mit.edu	37	1	152595450	152595450	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:152595450C>T	uc010pdt.2	-	0	130	c.130G>A	c.(130-132)Gag>Aag	p.E44K		NM_178431	NP_848518	Q5TA76	LCE3A_HUMAN	Homo sapiens late cornified envelope 3A (LCE3A), mRNA.	44					keratinization					endometrium(1)|lung(5)	6	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGCTGCGCTCGGAGCTGGGC	0.657000														57			21		0	0	1	0	0
SORBS3	10174	broad.mit.edu	37	8	22428684	22428684	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:22428684C>T	uc003xbv.3	+	17	2033	c.1693C>T	c.(1693-1695)Cgt>Tgt	p.R565C	SORBS3_uc003xbw.4_Missense_Mutation_p.R223C	NM_005775	NP_005766	O60504	VINEX_HUMAN	Homo sapiens sorbin and SH3 domain containing 3 (SORBS3), transcript variant 1, mRNA.	565					muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		GACCTCCCCCCGTCGCACTGG	0.697000														35			9		0	0	1	0	0
UGT2B28	54490	broad.mit.edu	37	4	70146908	70146908	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:70146908G>A	uc003hej.3	+	0	692	c.690G>A	c.(688-690)aaG>aaA	p.K230K	UGT2B28_uc010ihr.3_Silent_p.K230K	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	230					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)	GTGATATGAAGAAGTGGGATC	0.313000														49			15		0	0	1	0	0
CD33	945	broad.mit.edu	37	19	51728499	51728499	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:51728499C>T	uc002pwa.2	+	1	103	c.63C>T	c.(61-63)ttC>ttT	p.F21F	CD33_uc010eos.1_Silent_p.F21F|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)	ATCCAAATTTCTGGCTGCAAG	0.602000														31			10		0	0	1	0	0
KDM6B	23135	broad.mit.edu	37	17	7755877	7755877	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:7755877C>T	uc002gix.3	+	9	3276	c.2439C>T	c.(2437-2439)atC>atT	p.I813I	KDM6B_uc002giw.1_Silent_p.I1511I|TMEM88_uc002giy.3_5'Flank	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	Homo sapiens lysine (K)-specific demethylase 6B (KDM6B), mRNA.	1511	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						TCAAATCCATCGTGCCCATGA	0.527000											OREG0024145	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		18			9		0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106813839	106813839	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:106813839T>A	uc003ymd.3	+	7	1552	c.1529T>A	c.(1528-1530)gTc>gAc	p.V510D	ZFPM2_uc011lhs.2_Missense_Mutation_p.V241D	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	510					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			ATCACCATGGTCCCTCAAGCT	0.502000														117			5		0	0	1	0	0
PPP3CB	5532	broad.mit.edu	37	10	75239181	75239181	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:75239181C>T	uc001juf.3	-	1	315	c.180G>A	c.(178-180)gtG>gtA	p.V60V	PPP3CB_uc001jue.3_Silent_p.V60V|PPP3CB_uc001jug.3_Silent_p.V60V|PPP3CB_uc001juh.2_5'UTR|PPP3CB_uc001jui.2_Silent_p.V60V	NM_001142353	NP_001135825	P16298	PP2BB_HUMAN	Homo sapiens protein phosphatase 3, catalytic subunit, beta isozyme (PPP3CB), transcript variant 1, mRNA.	60	Catalytic.									breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22	Prostate(51;0.0119)					GACCTTCTTTCACCAAGTGGT	0.448000														80			24		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31039975	31039975	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:31039975C>T	uc002nsu.1	+	3	3587	c.3449C>T	c.(3448-3450)cCc>cTc	p.P1150L	ZNF536_uc010edd.1_Missense_Mutation_p.P1150L	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	1150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.P1150L(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)					ATCCTGATCCCCGAAACCACG	0.547000														23			9		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9074385	9074385	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:9074385G>A	uc002mkp.3	-	2	13265	c.13061C>T	c.(13060-13062)tCa>tTa	p.S4354L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4356	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						ATGAGGGCTTGAGATGGATGT	0.458000														17			4		0	0	1	0	0
CRYBA4	1413	broad.mit.edu	37	22	27026306	27026306	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:27026306G>A	uc003acz.4	+	5	481	c.446G>A	c.(445-447)tGg>tAg	p.W149*		NM_001886	NP_001877	P53673	CRBA4_HUMAN	Homo sapiens crystallin, beta A4 (CRYBA4), mRNA.	149	Beta/gamma crystallin 'Greek key' 4.	Susceptible to oxidation.			camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens	p.W149L(2)		large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						TTTTCCAGCTGGGTTTGCTCC	0.512000														28			8		0	0	1	0	0
BAZ1B	9031	broad.mit.edu	37	7	72922787	72922787	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:72922787A>C	uc003tyc.3	-	2	591	c.239T>G	c.(238-240)tTt>tGt	p.F80C		NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1B (BAZ1B), mRNA.	80	Mediates the tyrosine-protein kinase activity.|WAC.				ATP-dependent chromatin remodeling|DNA replication-dependent nucleosome disassembly|chromatin-mediated maintenance of transcription|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				CCAGGCAGGAAACTCCTCCTT	0.363000														50			11		0	0	1	0	0
FARS2	10667	broad.mit.edu	37	6	5545545	5545545	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:5545545C>T	uc010jnv.1	+	4	1373	c.1037C>T	c.(1036-1038)tCc>tTc	p.S346F	FARS2_uc003mwr.2_Missense_Mutation_p.S346F	NM_006567	NP_006558	O95363	SYFM_HUMAN	Homo sapiens phenylalanyl-tRNA synthetase 2, mitochondrial (FARS2), nuclear gene encoding mitochondrial protein, mRNA.	346					phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	TTCTGTGTATCCAACATTAAT	0.433000														102			56		0	0	1	0	0
TUSC3	7991	broad.mit.edu	37	8	15605946	15605946	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:15605946C>T	uc003wwt.3	+	8	1344	c.1000C>T	c.(1000-1002)Cgt>Tgt	p.R334C	TUSC3_uc003wwu.3_Missense_Mutation_p.R334C|TUSC3_uc022asi.1_Intron	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	Homo sapiens tumor suppressor candidate 3 (TUSC3), transcript variant 1, mRNA.	334					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		p.R334H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		TTCAATATTTCGTTCCAAGTA	0.318000														63			24		0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59158012	59158012	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr18:59158012G>A	uc010dps.1	+	0	378	c.226G>A	c.(226-228)Gac>Aac	p.D76N	CDH20_uc002lif.2_Missense_Mutation_p.D70N	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	Homo sapiens cadherin 20, type 2 (CDH20), mRNA.	76	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				CACTGGGACCGACCCTTTGTA	0.453000														22			37		0	0	1	0	0
ZNF280A	129025	broad.mit.edu	37	22	22869216	22869216	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:22869216C>T	uc002zwe.3	-	1	992	c.739G>A	c.(739-741)Gag>Aag	p.E247K	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|ZNF280A_uc021wmo.1_Missense_Mutation_p.E247K	NM_080740	NP_542778	P59817	Z280A_HUMAN	Homo sapiens zinc finger protein 280A (ZNF280A), mRNA.	247					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E247A(1)		endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		AGGCCAGACTCATTTGCTCTC	0.408000														62			22		0	0	1	0	0
SEC31B	25956	broad.mit.edu	37	10	102250018	102250018	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:102250018G>A	uc001krc.1	-	20	2814	c.2712C>T	c.(2710-2712)ttC>ttT	p.F904F	SEC31B_uc010qpo.1_Silent_p.F903F|SEC31B_uc001krd.1_Silent_p.F441F|SEC31B_uc001krf.1_Intron|SEC31B_uc001kre.1_Intron	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	Homo sapiens SEC31 homolog B (S. cerevisiae) (SEC31B), mRNA.	904	Pro-rich.				protein transport|vesicle-mediated transport	ER to Golgi transport vesicle membrane|endoplasmic reticulum membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		ATGTCCCAGGGAATCCCACCG	0.537000														24			9		0	0	1	0	0
STC2	8614	broad.mit.edu	37	5	172745154	172745154	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:172745154C>T	uc003mco.1	-	3	1915	c.605G>A	c.(604-606)gGa>gAa	p.G202E	STC2_uc003mcn.1_Missense_Mutation_p.G117E	NM_003714	NP_003705	O76061	STC2_HUMAN	Homo sapiens stanniocalcin 2 (STC2), mRNA.	202					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GCACAGGCTTCCCCAGTTCTG	0.632000														29			10		0	0	1	0	0
SLC38A1	81539	broad.mit.edu	37	12	46633487	46633487	+	Missense_Mutation	SNP	C	T	T	rs75571325		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:46633487C>T	uc009zkj.1	-	2	782	c.97G>A	c.(97-99)Gaa>Aaa	p.E33K	SLC38A1_uc001rpb.3_Missense_Mutation_p.E33K|SLC38A1_uc001rpc.3_Missense_Mutation_p.E33K|SLC38A1_uc001rpd.3_Missense_Mutation_p.E33K|SLC38A1_uc001rpe.3_Missense_Mutation_p.E33K|SLC38A1_uc010slh.2_Intron|SLC38A1_uc001rpa.3_Missense_Mutation_p.E33K	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	Homo sapiens solute carrier family 38, member 1 (SLC38A1), transcript variant 1, mRNA.	33					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity	p.E33K(2)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			TTTTCTACTTCGGTGAAATCA	0.388000														52			15		0	0	1	0	0
GPR75-ASB3	100302652	broad.mit.edu	37	2	53977980	53977980	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:53977980A>T	uc002rxi.4	-	2	514	c.409T>A	c.(409-411)Tta>Ata	p.L137I	GPR75-ASB3_uc021vhl.1_Missense_Mutation_p.L26I|GPR75-ASB3_uc002rxg.2_Missense_Mutation_p.L99I|GPR75-ASB3_uc002rxh.2_Missense_Mutation_p.L26I|GPR75-ASB3_uc010yoo.2_Missense_Mutation_p.L99I	NM_001164165	NP_665862	Q2TAI4	Q2TAI4_HUMAN	Homo sapiens GPR75-ASB3 readthrough (GPR75-ASB3), mRNA.	134					intracellular signal transduction												CCAGCTTCTAAAAGAATCTGT	0.378000														25			9		0	0	1	0	0
PSD3	23362	broad.mit.edu	37	8	18393341	18393341	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:18393341G>A	uc003wza.3	-	15	3159	c.3056C>T	c.(3055-3057)tCt>tTt	p.S1019F	PSD3_uc003wyx.4_Missense_Mutation_p.S348F|PSD3_uc003wyy.3_Missense_Mutation_p.S485F|PSD3_uc003wyz.3_Missense_Mutation_p.S320F	NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.	1020					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		AGTGATTGGAGAAGTATCCGG	0.488000														74			11		0	0	1	0	0
ARSI	340075	broad.mit.edu	37	5	149677329	149677329	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:149677329C>T	uc003lrv.2	-	1	1747	c.1158G>A	c.(1156-1158)acG>acA	p.T386T		NM_001012301	NP_001012301	Q5FYB1	ARSI_HUMAN	Homo sapiens arylsulfatase family, member I (ARSI), mRNA.	386						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)			GCAGGATCTCCGTGCGTGGTG	0.652000														44			31		0	0	1	0	0
FOXM1	2305	broad.mit.edu	37	12	2968039	2968039	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:2968039G>A	uc001qlf.3	-	8	2340	c.2057C>T	c.(2056-2058)tCc>tTc	p.S686F	LOC100507424_uc021qtc.1_Intron|FOXM1_uc001qle.3_Missense_Mutation_p.S724F|FOXM1_uc009zea.3_Missense_Mutation_p.S671F|FOXM1_uc009zeb.3_Missense_Mutation_p.S670F|FOXM1_uc001qlg.3_Missense_Mutation_p.S671F	NM_021953	NP_068772	Q08050	FOXM1_HUMAN	Homo sapiens forkhead box M1 (FOXM1), transcript variant 2, mRNA.	686					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of Ras protein signal transduction|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			AAAGGGGACGGAGATGAGGTC	0.577000														30			13		0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16025675	16025675	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:16025675G>A	uc002nbu.2	-	9	1182	c.1146C>T	c.(1144-1146)acC>acT	p.T382T	CYP4F11_uc010eab.1_Silent_p.T382T|CYP4F11_uc002nbt.2_Silent_p.T382T	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	382					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						TAATGCACATGGTCAGGAAGG	0.567000														59			24		0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51768809	51768809	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:51768809C>T	uc003pah.1	-	41	7116	c.6840G>A	c.(6838-6840)tgG>tgA	p.W2280*	PKHD1_uc010jzn.1_Nonsense_Mutation_p.W263*|PKHD1_uc003pai.3_Nonsense_Mutation_p.W2280*	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	2280					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAATTGCCTCCCAGGAGATAT	0.338000														39			11		0	0	1	0	0
HAP1	9001	broad.mit.edu	37	17	39880954	39880954	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:39880954C>T	uc002hxm.1	-	11	2027	c.2015G>A	c.(2014-2016)tGa>tAa	p.*672*	JUP_uc010wfs.2_Intron|HAP1_uc002hxn.1_Silent_p.*620*|HAP1_uc002hxo.1_Silent_p.*603*|HAP1_uc002hxp.1_Silent_p.*595*	NM_177977	NP_817084	P54257	HAP1_HUMAN	Homo sapiens huntingtin-associated protein 1 (HAP1), transcript variant 2, mRNA.	0					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)			CCTCTCTTTTCATCGGCACGA	0.587000														141			33		0	0	1	0	0
PTPN6	5777	broad.mit.edu	37	12	7066933	7066933	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:7066933C>T	uc001qsb.2	+	9	1433	c.1191C>T	c.(1189-1191)gtC>gtT	p.V397V	PTPN6_uc001qsa.1_Silent_p.V399V|PTPN6_uc010sfr.1_Silent_p.V358V|PTPN6_uc009zfl.1_Silent_p.V397V|PTPN6_uc010sfs.1_Silent_p.V385V	NM_002831	NP_002822	P29350	PTN6_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 6 (PTPN6), transcript variant 1, mRNA.	397	Tyrosine-protein phosphatase.				G-protein coupled receptor protein signaling pathway|T cell costimulation|apoptosis|cell junction assembly|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						CCTTACAGGTCTCCCCGCTGG	0.607000														31			13		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196602738	196602738	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:196602738C>T	uc002utj.4	-	64	12083	c.11982G>A	c.(11980-11982)acG>acA	p.T3994T	DNAH7_uc002uti.4_Silent_p.T477T	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3994					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						TCACAAAATTCGTGGAATGGC	0.453000														14			21		0	0	1	0	0
UBQLN4	56893	broad.mit.edu	37	1	156011741	156011741	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:156011741G>A	uc001fna.3	-	8	1412	c.1388C>T	c.(1387-1389)cCc>cTc	p.P463L	UBQLN4_uc010pgx.2_Missense_Mutation_p.P443L	NM_020131	NP_064516	Q9NRR5	UBQL4_HUMAN	Homo sapiens ubiquilin 4 (UBQLN4), mRNA.	463						cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					CATGGCTCGGGGATTGGTAAG	0.577000														39			26		0	0	1	0	0
UNC93A	54346	broad.mit.edu	37	6	167719447	167719447	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:167719447G>A	uc003qvq.3	+	5	1060	c.885G>A	c.(883-885)gtG>gtA	p.V295V	UNC93A_uc003qvr.3_Silent_p.V253V	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN	Homo sapiens unc-93 homolog A (C. elegans) (UNC93A), transcript variant 1, mRNA.	295			V -> M (in dbSNP:rs4708771).			integral to membrane|plasma membrane		p.Y294Y(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TCGGCTACGTGATGATCTGCT	0.612000														65			58		0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107689770	107689770	+	Splice_Site	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:107689770C>T	uc010ljo.1	-	27	4206	c.4122_splice	c.e27+1	p.K1374_splice	LAMB4_uc003vey.2_Splice_Site_p.K1374_splice|LAMB4_uc010ljp.1_Splice_Site_p.K343_splice	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	1374	Domain II.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TGAATATTTACCTTTTCATTC	0.299000														20			12		0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48736523	48736523	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:48736523G>A	uc003xqi.3	-	64	8872	c.8815C>T	c.(8815-8817)Cgt>Tgt	p.R2939C	PRKDC_uc003xqj.3_Missense_Mutation_p.R2939C	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	2940	FAT.|KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	p.R2940C(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AAAATCCCACGGAGGACGTCG	0.363000								Non-homologous end-joining						39			9		0	0	1	0	0
CEACAM7	1087	broad.mit.edu	37	19	42190975	42190975	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:42190975C>T	uc002ori.1	-	1	244	c.242G>A	c.(241-243)gGa>gAa	p.G81E	CEACAM7_uc010ehx.2_Missense_Mutation_p.G81E|CEACAM7_uc010ehy.1_Missense_Mutation_p.G81E	NM_006890	NP_008821	Q14002	CEAM7_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 7 (CEACAM7), mRNA.	81	Ig-like V-type.					anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		TTTTACATATCCTATAATTCG	0.463000														55			34		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77377854	77377854	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:77377854T>C	uc004ajl.1	-	25	3971	c.3733A>G	c.(3733-3735)Act>Gct	p.T1245A	TRPM6_uc004ajk.1_Missense_Mutation_p.T1240A|TRPM6_uc022bib.1_Missense_Mutation_p.T1240A|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.T201A	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1245					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TTTTTGCAAGTAGAATGCTTT	0.483000														27			29		0	0	1	0	0
FAM5C	339479	broad.mit.edu	37	1	190195350	190195350	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:190195350C>T	uc001gse.1	-	5	1055	c.823G>A	c.(823-825)Gaa>Aaa	p.E275K	FAM5C_uc010pot.1_Missense_Mutation_p.E173K	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	275						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					CAGTCATTTTCCTTGCAGATA	0.448000														35			20		0	0	1	0	0
AKNA	80709	broad.mit.edu	37	9	117104348	117104348	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:117104348G>A	uc004biq.3	-	18	3950	c.3815C>T	c.(3814-3816)cCc>cTc	p.P1272L	AKNA_uc004bin.3_Missense_Mutation_p.P519L|AKNA_uc004bio.3_Missense_Mutation_p.P732L|AKNA_uc004bip.3_Missense_Mutation_p.P1191L|AKNA_uc004bir.3_Missense_Mutation_p.P1272L|AKNA_uc004bis.3_Missense_Mutation_p.P1272L|AKNA_uc010mve.2_Missense_Mutation_p.P1153L	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN	Homo sapiens AT-hook transcription factor (AKNA), mRNA.	1272					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						ACCACACAGGGGACACTGAAG	0.562000														24			9		0	0	1	0	0
DIXDC1	85458	broad.mit.edu	37	11	111845647	111845647	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:111845647G>A	uc001pml.3	+	4	893	c.596G>A	c.(595-597)cGg>cAg	p.R199Q	DIXDC1_uc001pmj.3_Missense_Mutation_p.R192Q|DIXDC1_uc001pmk.3_Missense_Mutation_p.R199Q|DIXDC1_uc001pmm.3_5'Flank	NM_001037954	NP_001033043	Q155Q3	DIXC1_HUMAN	Homo sapiens DIX domain containing 1 (DIXDC1), transcript variant 1, mRNA.	199	Actin-binding.				Wnt receptor signaling pathway|multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|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;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		TGGAGTGTGCGGGCCCTAGTG	0.517000														6			9		0	0	1	0	0
OR4K13	390433	broad.mit.edu	37	14	20502406	20502406	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:20502406G>A	uc010tkz.2	-	0	512	c.512C>T	c.(511-513)cCc>cTc	p.P171L		NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 13 (OR4K13), mRNA.	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TATAACATTGGGACCACAGAA	0.483000														23			25		0	0	1	0	0
KLHL3	26249	broad.mit.edu	37	5	136974685	136974685	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:136974685G>A	uc010jek.3	-	9	1620	c.1176C>T	c.(1174-1176)ctC>ctT	p.L392L	KLHL3_uc011cyc.2_Silent_p.L161L|KLHL3_uc003lbr.4_Silent_p.L310L|KLHL3_uc011cyd.2_Intron|KLHL3_uc010jel.1_Silent_p.L161L|KLHL3_uc010jem.1_Silent_p.L352L	NM_017415	NP_059111	Q9UH77	KLHL3_HUMAN	Homo sapiens kelch-like 3 (Drosophila) (KLHL3), mRNA.	392						cytoplasm|cytoskeleton	actin binding|structural molecule activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		GCAAGTCATTGAGCACCGCTG	0.597000														19			4		0	0	1	0	0
IL6ST	3572	broad.mit.edu	37	5	55250661	55250661	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:55250661G>A	uc003jqq.3	-	10	1740	c.1427C>T	c.(1426-1428)aCc>aTc	p.T476I	IL6ST_uc003jqp.3_Intron|IL6ST_uc010iwd.3_Intron|IL6ST_uc011cqk.2_Missense_Mutation_p.T187I|IL6ST_uc003jqr.3_3'UTR|IL6ST_uc010iwb.3_Intron	NM_002184	NP_002175	P40189	IL6RB_HUMAN	Homo sapiens interleukin 6 signal transducer (gp130, oncostatin M receptor) (IL6ST), transcript variant 1, mRNA.	476	Fibronectin type-III 4.				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of T cell proliferation|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				GCGATGCACGGTACCATCTTC	0.383000			O		hepatocellular ca									112			28		0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56423566	56423566	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:56423566G>A	uc010ygg.2	-	4	1642	c.1617C>T	c.(1615-1617)ttC>ttT	p.F539F		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	539	NACHT.						ATP binding	p.F539F(2)		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)		AAAACTCCTGGAAACTTAGGT	0.453000														39			19		0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88886169	88886169	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:88886169C>T	uc003ydz.3	-	0	128	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA.	11								p.E11*(2)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TTGTCTGCTTCCTCGAGCAGT	0.522000														43			10		0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92763562	92763562	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:92763562C>T	uc003umh.1	-	4	2939	c.1723G>A	c.(1723-1725)Gaa>Aaa	p.E575K	SAMD9L_uc003umj.1_Missense_Mutation_p.E575K|SAMD9L_uc003umi.1_Missense_Mutation_p.E575K|SAMD9L_uc010lfb.1_Missense_Mutation_p.E575K|SAMD9L_uc003umk.1_Missense_Mutation_p.E575K|SAMD9L_uc010lfc.1_Missense_Mutation_p.E575K|SAMD9L_uc010lfd.1_Missense_Mutation_p.E575K|SAMD9L_uc022ahh.1_Missense_Mutation_p.E575K	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	575										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AACATATTTTCCATTCCTTTG	0.358000														43			20		0	0	1	0	0
TTC17	55761	broad.mit.edu	37	11	43421444	43421444	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:43421444C>T	uc001mxi.3	+	8	1135	c.1065C>T	c.(1063-1065)ctC>ctT	p.L355L	TTC17_uc001mxh.3_Silent_p.L355L|TTC17_uc010rfj.2_Silent_p.L298L|TTC17_uc001mxj.3_Silent_p.L125L	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN	Homo sapiens tetratricopeptide repeat domain 17 (TTC17), mRNA.	355							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TAAGATCTCTCCAGCGAACAC	0.358000														41			7		0	0	1	0	0
ANKS6	203286	broad.mit.edu	37	9	101542534	101542535	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:101542534_101542535GG>AA	uc004ayu.3	-	5	1325_1326	c.1304_1305CC>TT	c.(1303-1305)ccc>cTT	p.P435L	ANKS6_uc004ayv.2_5'Flank|ANKS6_uc004ayx.2_Non-coding_Transcript|ANKS6_uc004ayy.2_Non-coding_Transcript|ANKS6_uc004ayt.3_Missense_Mutation_p.P134L	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 6 (ANKS6), mRNA.	435										endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				CCTTCGAGTGGGGCAGGGGAGG	0.574000														22			7		0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027179	37027179	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:37027179C>T	uc004ddl.2	+	0	748	c.696C>T	c.(694-696)tcC>tcT	p.S232S		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	232										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						CTCAGGTGTCCAGTCTCCACC	0.652000														15			27		0	0	1	0	0
SRL	6345	broad.mit.edu	37	16	4254615	4254615	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:4254615C>T	uc002cvz.4	-	1	95	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K	SRL_uc002cvy.4_Non-coding_Transcript	NM_001098814	NP_001092284	Q86TD4	SRCA_HUMAN	Homo sapiens sarcalumenin (SRL), mRNA.	487	Acidic domain, probably binds calcium (By similarity).					sarcoplasmic reticulum lumen	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						GGGGCTTCTTCATTTGCATCC	0.567000														50			17		0	0	1	0	0
SNX18	112574	broad.mit.edu	37	5	53814535	53814535	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:53814535C>T	uc003jpj.4	+	0	943	c.753C>T	c.(751-753)ttC>ttT	p.F251F	SNX18_uc011cqg.2_Silent_p.F251F|SNX18_uc003jpi.4_Silent_p.F251F	NM_052870	NP_443102	Q96RF0	SNX18_HUMAN	Homo sapiens sorting nexin 18 (SNX18), transcript variant 2, mRNA.	251					cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				CGTCAGGCTTCGTGAAGGACG	0.667000														66			40		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38906695	38906695	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:38906695C>T	uc021yzh.1	+	78	12047	c.11938C>T	c.(11938-11940)Ctc>Ttc	p.L3980F	DNAH8_uc003ooe.2_Missense_Mutation_p.L3763F|DNAH8_uc003oog.1_Missense_Mutation_p.L212F|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						GTTTGTACTCCTCATGACCTT	0.383000														40			17		0	0	1	0	0
ADRA1A	148	broad.mit.edu	37	8	26722416	26722416	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:26722416G>A	uc003xfc.1	-	0	507	c.71C>T	c.(70-72)tCc>tTc	p.S24F	ADRA1A_uc010lul.1_Missense_Mutation_p.S24F|ADRA1A_uc003xfd.1_Non-coding_Transcript|ADRA1A_uc003xfe.1_Missense_Mutation_p.S24F|ADRA1A_uc010lum.1_Missense_Mutation_p.S24F|ADRA1A_uc003xff.1_Non-coding_Transcript|ADRA1A_uc003xfg.1_Missense_Mutation_p.S24F|ADRA1A_uc003xfh.1_Missense_Mutation_p.S24F|ADRA1A_uc022atd.1_Missense_Mutation_p.S24F	NM_033303	NP_150646	P35348	ADA1A_HUMAN	Homo sapiens adrenergic, alpha-1A-, receptor (ADRA1A), transcript variant 2, mRNA.	24					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of Rho protein signal transduction|negative regulation of cell proliferation|negative regulation of synaptic transmission, GABAergic|positive regulation of ERK1 and ERK2 cascade|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	AATGGCCTTGGAAATGTTCAC	0.617000														171			43		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41420107	41420107	+	Splice_Site	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:41420107C>T	uc002xkg.3	-	3	399	c.215_splice	c.e3-1	p.G72_splice	PTPRT_uc010ggj.3_Splice_Site_p.G72_splice	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	72	MAM.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ATGAAAGATCCTGGAGACCCA	0.507000														5			4		0	0	1	0	0
AMPH	273	broad.mit.edu	37	7	38466582	38466582	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:38466582G>A	uc003tgu.3	-	14	1403	c.1187C>T	c.(1186-1188)tCt>tTt	p.S396F	AMPH_uc003tgv.3_Missense_Mutation_p.S396F|AMPH_uc003tgt.3_Missense_Mutation_p.S323F|AMPH_uc003tgw.1_Missense_Mutation_p.S461F|AMPH_uc010kxl.1_Non-coding_Transcript	NM_001635	NP_001626	P49418	AMPH_HUMAN	Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA.	396					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TGAACCACCAGAAGCCTAAAC	0.333000														27			7		0	0	1	0	0
TRPV4	59341	broad.mit.edu	37	12	110240892	110240893	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:110240892_110240893GG>AA	uc001tpj.2	-	2	710_711	c.615_616CC>TT	c.(613-618)ggccgc>ggTTgc	p.R206C	TRPV4_uc001tpg.2_Missense_Mutation_p.R172C|TRPV4_uc021rdp.1_Missense_Mutation_p.R206C|TRPV4_uc001tph.2_Missense_Mutation_p.R206C|TRPV4_uc001tpi.2_Missense_Mutation_p.R206C|TRPV4_uc001tpk.2_Missense_Mutation_p.R206C	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA.	206					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						GTGTCGTTGCGGCCATTGCTCA	0.579000														26			7		0	0	1	0	0
KIF13A	63971	broad.mit.edu	37	6	17779846	17779846	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:17779846C>T	uc003ncg.4	-	31	4076	c.3916G>A	c.(3916-3918)Gaa>Aaa	p.E1306K	KIF13A_uc003ncf.3_Missense_Mutation_p.E1293K|KIF13A_uc003nch.4_Missense_Mutation_p.E1306K|KIF13A_uc003nci.4_Missense_Mutation_p.E1293K|KIF13A_uc003nce.2_5'Flank	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	1306					Golgi to plasma membrane protein transport|cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GATACTATTTCATAGGTTACA	0.403000														44			11		0	0	1	0	0
TDRD6	221400	broad.mit.edu	37	6	46658108	46658108	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:46658108A>T	uc003oyj.3	+	0	2497	c.2243A>T	c.(2242-2244)tAt>tTt	p.Y748F	TDRD6_uc010jze.3_Missense_Mutation_p.Y748F	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.	748					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)			GCATCTGTTTATTTTCCTCTT	0.383000														31			11		0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30529015	30529015	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:30529015G>A	uc002dyi.4	+	26	3198	c.3022G>A	c.(3022-3024)Gat>Aat	p.D1008N	ITGAL_uc002dyj.4_Missense_Mutation_p.D924N|ITGAL_uc010vev.2_Missense_Mutation_p.D242N	NM_002209	NP_002200	P20701	ITAL_HUMAN	Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA.	1008					T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	GAGGCTCCCGGATGCAGCTGA	0.612000														59			19		0	0	1	0	0
OR51I2	390064	broad.mit.edu	37	11	5475152	5475152	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:5475152G>A	uc010qzf.2	+	0	515	c.434G>A	c.(433-435)gGt>gAt	p.G145D	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004754	NP_001004754	Q9H344	O51I2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily I, member 2 (OR51I2), mRNA.	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTGCAATGGGTTTAGGTGCA	0.488000														75			21		0	0	1	0	0
TRPV6	55503	broad.mit.edu	37	7	142575001	142575001	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:142575001G>A	uc003wbx.2	-	3	610	c.381C>T	c.(379-381)aaC>aaT	p.N127N	TRPV6_uc003wbw.1_5'Flank|TRPV6_uc010lou.1_5'UTR	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	127					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					TCATGTTCTGGTTCACAACAG	0.617000														93			19		0	0	1	0	0
CHST5	23563	broad.mit.edu	37	16	75563607	75563607	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:75563607G>A	uc002fej.1	-	4	1015	c.694C>T	c.(694-696)Ccg>Tcg	p.P232S	CHST5_uc002fei.3_Missense_Mutation_p.P226S|CHST5_uc021tlk.1_Missense_Mutation_p.P226S	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 (CHST5), mRNA.	226					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						ACGGCCCGCGGGTCGCGCACC	0.706000														58			26		0	0	1	0	0
HTR1D	3352	broad.mit.edu	37	1	23519924	23519924	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:23519924C>T	uc001bgn.3	-	0	1299	c.789G>A	c.(787-789)ggG>ggA	p.G263G		NM_000864	NP_000855	P28221	5HT1D_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1D (HTR1D), mRNA.	263					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	AGTGCGAGTGCCCCTCATGGA	0.582000														87			25		0	0	1	0	0
SULT1A1	6817	broad.mit.edu	37	16	28618277	28618277	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:28618277C>T	uc002dqn.3	-	7	1359	c.767G>A	c.(766-768)gGa>gAa	p.G256E	NPIPL1_uc010vct.2_Intron|SULT1A1_uc002dqj.3_Missense_Mutation_p.G165E|SULT1A1_uc002dqi.3_Missense_Mutation_p.G165E|SULT1A1_uc002dqk.3_Missense_Mutation_p.G165E|SULT1A1_uc002dql.3_Missense_Mutation_p.G165E|SULT1A1_uc002dqm.3_Missense_Mutation_p.G87E|SULT1A1_uc002dqp.3_Missense_Mutation_p.G165E	NM_177534	NP_803878	P50225	ST1A1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 (SULT1A1), transcript variant 4, mRNA.	165					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						CCCACCTTCTCCGACCATGAA	0.567000														70			25		0	0	1	0	0
ZNF254	9534	broad.mit.edu	37	19	24310058	24310058	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:24310058C>T	uc002nru.3	+	3	1390	c.1256C>T	c.(1255-1257)tCa>tTa	p.S419L	ZNF254_uc010xrk.2_Missense_Mutation_p.S334L	NM_203282	NP_975011	O75437	ZN254_HUMAN	Homo sapiens zinc finger protein 254 (ZNF254), mRNA.	419					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				AATCGATCTTCAAATCTTACT	0.348000														12			9		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48467395	48467395	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:48467395G>A	uc003toq.2	+	41	12516	c.12492G>A	c.(12490-12492)aaG>aaA	p.K4164K	ABCA13_uc010kys.1_Silent_p.K1238K|ABCA13_uc010kyt.1_Non-coding_Transcript	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	4164					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATTCCAACAAGAAATCTCACA	0.413000														24			3		0	0	1	0	0
SPTBN5	51332	broad.mit.edu	37	15	42166142	42166142	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:42166142G>A	uc001zos.3	-	24	5019	c.4686C>T	c.(4684-4686)atC>atT	p.I1562I		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	1597					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		ACTGCTCCACGATGTGTTGGG	0.647000														30			28		0	0	1	0	0
TECR	9524	broad.mit.edu	37	19	14674799	14674799	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:14674799C>T	uc002mza.3	+	5	403	c.273C>T	c.(271-273)ttC>ttT	p.F91F	TECR_uc010xns.2_5'UTR|TECR_uc002mzc.3_5'UTR|TECR_uc002mzb.3_Silent_p.F106F|TECR_uc002mze.3_5'Flank	NM_138501	NP_612510	Q9NZ01	TECR_HUMAN	Homo sapiens trans-2,3-enoyl-CoA reductase (TECR), transcript variant 1, mRNA.	91					fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity			endometrium(1)|large_intestine(1)|ovary(1)	3						CTCAGGTCTTCCTAACAGAGT	0.547000														144			68		0	0	1	0	0
TEX13B	56156	broad.mit.edu	37	X	107225292	107225292	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:107225292G>A	uc004enn.1	-	1	159	c.66C>T	c.(64-66)atC>atT	p.I22I		NM_031273	NP_112563	Q9BXU2	TX13B_HUMAN	Homo sapiens testis expressed 13B (TEX13B), mRNA.	22										breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						CCATTTTCTCGATGATGAAGG	0.562000														7			21		0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	43996075	43996075	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:43996075G>A	uc003bdy.2	-	22	3064	c.2750C>T	c.(2749-2751)tCg>tTg	p.S917L	EFCAB6_uc003bdz.2_Missense_Mutation_p.S765L|EFCAB6_uc010gzi.2_Missense_Mutation_p.S765L|EFCAB6_uc010gzj.1_Missense_Mutation_p.S143L	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	917	EF-hand 10.				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)				GACAGCAGGCGAATAGTTAAT	0.428000														313			49		0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56468960	56468960	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:56468960G>A	uc021wzo.1	-	0	216	c.76C>T	c.(76-78)Cgt>Tgt	p.R26C	ERC2_uc003dhr.1_Missense_Mutation_p.R26C	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	26						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	p.R26C(3)		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)		TGGCCCAAACGAGGAGACCTT	0.488000														32			12		0	0	1	0	0
TRIM55	84675	broad.mit.edu	37	8	67047294	67047294	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:67047294G>A	uc003xvv.3	+	2	637	c.411G>A	c.(409-411)ctG>ctA	p.L137L	TRIM55_uc003xvu.3_Silent_p.L137L|TRIM55_uc003xvw.3_Silent_p.L137L|TRIM55_uc003xvx.3_Silent_p.L137L	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA.	137						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)			TCTACTGTCTGAACTGCGAAG	0.522000														55			14		0	0	1	0	0
FUT5	2527	broad.mit.edu	37	19	5867109	5867109	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:5867109C>T	uc002mdo.4	-	1	799	c.628G>A	c.(628-630)Gtg>Atg	p.V210M	FUT5_uc010duo.3_Missense_Mutation_p.V210M|FUT5_uc021uno.1_Missense_Mutation_p.V210M	NM_002034	NP_002025	Q11128	FUT5_HUMAN	Homo sapiens fucosyltransferase 5 (alpha (1,3) fucosyltransferase) (FUT5), mRNA.	210					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						CAGTTGGACACCGCCCAGGCC	0.677000														25			11		0	0	1	0	0
MYO9B	4650	broad.mit.edu	37	19	17306100	17306100	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:17306100C>T	uc010eak.3	+	21	4016	c.3864C>T	c.(3862-3864)ccC>ccT	p.P1288P	MYO9B_uc002nfi.3_Silent_p.P1288P|MYO9B_uc002nfj.1_Silent_p.P1288P|MYO9B_uc002nfl.1_5'Flank	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA.	1288	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	ADP binding|ATP binding|ATPase activity|Rho GTPase activator activity|actin binding|calmodulin binding|metal ion binding|microfilament motor activity	p.P1288P(3)		breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						AGGAAAAGCCCGACAGCCCCG	0.706000														58			15		0	0	1	0	0
WDR66	144406	broad.mit.edu	37	12	122413480	122413481	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:122413480_122413481CC>TT	uc009zxk.3	+	18	3054_3055	c.2895_2896CC>TT	c.(2893-2898)ctccgc>ctTTgc	p.R966C		NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN	Homo sapiens WD repeat domain 66 (WDR66), transcript variant 1, mRNA.	966							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		ATTCTCAGCTCCGCAGTCAAGG	0.441000														27			13		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151866309	151866309	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:151866309G>A	uc003wla.3	-	40	9698	c.9479C>T	c.(9478-9480)tCt>tTt	p.S3160F	MLL3_uc003wkz.3_Missense_Mutation_p.S2221F|MLL3_uc003wky.3_Missense_Mutation_p.S669F	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	3160	Gln-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)		ATTAGGCCTAGAAATCTGATG	0.333000			N		medulloblastoma									33			26		0	0	1	0	0
C1orf222	339457	broad.mit.edu	37	1	1854915	1854915	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:1854915C>T	uc001aik.3	-	7	1261	c.411G>A	c.(409-411)ctG>ctA	p.L137L	C1orf222_uc001ail.3_Silent_p.L137L			Q69YW0	CA222_HUMAN	RecName: Full=Uncharacterized protein C1orf222;	137										breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)	11	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-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)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CGGCACCCTTCAGCAGGATCT	0.637000														23			4		0	0	1	0	0
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42137229	42137229	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:42137229C>A	uc001zoo.4	+	17	1933	c.1893C>A	c.(1891-1893)aaC>aaA	p.N631K	JMJD7-PLA2G4B_uc010bcn.3_Missense_Mutation_p.N631K|JMJD7-PLA2G4B_uc001zoq.4_Missense_Mutation_p.N101K|JMJD7-PLA2G4B_uc010bco.3_Missense_Mutation_p.N400K|JMJD7-PLA2G4B_uc001zor.1_Missense_Mutation_p.N101K	NM_005090	NP_005081	P0C869	PA24B_HUMAN	Homo sapiens JMJD7-PLA2G4B readthrough (JMJD7-PLA2G4B), transcript variant 1, mRNA.	400	PLA2c.				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						GCTTCACCAACCTGTGGGCCC	0.692000														4			3		1	1	1	1	0
SLC12A8	84561	broad.mit.edu	37	3	124807214	124807214	+	Splice_Site	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:124807214C>T	uc003ehw.4	-	13	2079	c.2009_splice	c.e13-1	p.G670_splice	SLC12A8_uc003ehv.4_Splice_Site_p.G641_splice|SLC12A8_uc003eht.4_Splice_Site_p.G442_splice|SLC12A8_uc010hry.3_Intron	NM_024628	NP_078904	A0AV02	S12A8_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 8 (SLC12A8), transcript variant 1, mRNA.	641					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						GGAGGCTGATCCTGCAGGGAA	0.463000														28			5		0	0	1	0	0
ZBED4	9889	broad.mit.edu	37	22	50279178	50279178	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:50279178C>T	uc003bix.2	+	1	2338	c.1868C>T	c.(1867-1869)tCc>tTc	p.S623F	ZBED4_uc021wrx.1_Missense_Mutation_p.S623F	NM_014838	NP_055653	O75132	ZBED4_HUMAN	Homo sapiens zinc finger, BED-type containing 4 (ZBED4), mRNA.	623						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GCTCGGCCCTCCTCTCCGGAC	0.532000														62			20		0	0	1	0	0
CPNE5	57699	broad.mit.edu	37	6	36766013	36766013	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:36766013G>A	uc003omr.1	-	5	400	c.333C>T	c.(331-333)ttC>ttT	p.F111F	CPNE5_uc003oms.1_Silent_p.F73F	NM_020939	NP_065990	Q9HCH3	CPNE5_HUMAN	Homo sapiens copine V (CPNE5), mRNA.	111	C2 1.									central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CCTGGCCCAGGAAATCCTGCA	0.602000														15			6		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24727398	24727398	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:24727398G>A	uc001iru.4	+	4	1239	c.836G>A	c.(835-837)gGa>gAa	p.G279E	KIAA1217_uc001irs.3_Missense_Mutation_p.G199E|KIAA1217_uc001irt.4_Missense_Mutation_p.G279E|KIAA1217_uc010qcy.2_Missense_Mutation_p.G279E|KIAA1217_uc010qcz.2_Missense_Mutation_p.G279E|KIAA1217_uc001irv.1_Missense_Mutation_p.G129E|KIAA1217_uc010qda.1_Non-coding_Transcript	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	279					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						ACTATGAATGGAGACATGAGG	0.403000														40			17		0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57585270	57585270	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:57585270C>T	uc001snd.3	+	43	7870	c.7404C>T	c.(7402-7404)atC>atT	p.I2468I		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	2468					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)	TGGGCATCATCGCCGTGGCCA	0.647000														44			8		0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6204669	6204669	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:6204669G>A	uc001qnn.1	-	5	864	c.614C>T	c.(613-615)cCt>cTt	p.P205L	VWF_uc010set.1_Missense_Mutation_p.P205L|VWF_uc001qno.1_Missense_Mutation_p.P242L	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	205	VWFD 1.				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)	GCTGCTGGGAGGAGATGCCCG	0.542000														87			32		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117710272	117710272	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:117710272G>A	uc001twn.2	-	9	2468	c.1757C>T	c.(1756-1758)gCc>gTc	p.A586V	NOS1_uc021ren.1_Missense_Mutation_p.A250V|NOS1_uc021reo.1_Missense_Mutation_p.A250V|NOS1_uc001twm.2_Missense_Mutation_p.A586V	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	586					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GAAGGGACAGGCGCTGAACTC	0.592000														54			17		0	0	1	0	0
FGD5	152273	broad.mit.edu	37	3	14958792	14958792	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:14958792G>A	uc003bzc.3	+	11	3552	c.3442G>A	c.(3442-3444)Gat>Aat	p.D1148N	FGD5_uc011avk.2_Missense_Mutation_p.D1148N|FGD5_uc003bzd.3_Missense_Mutation_p.D226N	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	1148	PH 1.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TCCCCAGAAGGATGGGAAGTA	0.582000														22			5		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227896750	227896751	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:227896750_227896751GG>AA	uc021vxr.1	-	38	3828_3829	c.3727_3728CC>TT	c.(3727-3729)cct>TTt	p.P1243F	COL4A4_uc021vxs.1_Missense_Mutation_p.P1243F	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1243	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GGCACCTGCAGGACCAGGTGGT	0.500000														23			5		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126240420	126240420	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:126240420C>T	uc003ifj.4	+	0	2854	c.2854C>T	c.(2854-2856)Ctt>Ttt	p.L952F		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	952	Cadherin 9.				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						TATTAGTCTGCTTGGGCCCCT	0.463000														16			7		0	0	1	0	0
SKOR1	390598	broad.mit.edu	37	15	68119352	68119352	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:68119352C>T	uc002aqy.1	+	2	1054	c.1054C>T	c.(1054-1056)Cct>Tct	p.P352S		NM_001031807	NP_001026977	P84550	SKOR1_HUMAN	Homo sapiens SKI family transcriptional corepressor 1 (SKOR1), mRNA.	396					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	SMAD binding|nucleotide binding|transcription repressor activity			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						TTTCCCCCATCCTTACGGCTT	0.672000														22			6		0	0	1	0	0
NEO1	4756	broad.mit.edu	37	15	73558715	73558715	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:73558715C>T	uc002avm.4	+	15	2649	c.2457C>T	c.(2455-2457)atC>atT	p.I819I	NEO1_uc010ukx.2_Silent_p.I819I|NEO1_uc010uky.2_Silent_p.I819I|NEO1_uc002avn.4_Silent_p.I839I|NEO1_uc010ukz.2_Silent_p.I243I	NM_002499	NP_002490	Q92859	NEO1_HUMAN	Homo sapiens neogenin 1 (NEO1), transcript variant 1, mRNA.	819	Fibronectin type-III 4.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						GTGAAGGCATCCCCCTGTATG	0.438000														78			77		0	0	1	0	0
GATAD1	57798	broad.mit.edu	37	7	92085780	92085780	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:92085780C>T	uc003ulx.1	+	4	993	c.714C>T	c.(712-714)ccC>ccT	p.P238P		NM_021167	NP_066990	Q8WUU5	GATD1_HUMAN	Homo sapiens GATA zinc finger domain containing 1 (GATAD1), mRNA.	238							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|lung(3)	6	all_cancers(62;1.63e-10)|all_epithelial(64;8.33e-10)|Breast(17;0.00311)|all_lung(186;0.0498)|Lung NSC(181;0.0676)		STAD - Stomach adenocarcinoma(171;4.51e-05)|GBM - Glioblastoma multiforme(5;8.83e-05)|all cancers(6;0.000136)|Lung(22;0.123)|Epithelial(20;0.179)|LUSC - Lung squamous cell carcinoma(200;0.225)			CACCATTTCCCACAGTTCCCA	0.448000														72			52		0	0	1	0	0
PTGDR	5729	broad.mit.edu	37	14	52734706	52734706	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:52734706C>T	uc001wzq.3	+	0	276	c.174C>T	c.(172-174)ccC>ccT	p.P58P		NM_000953	NP_000944	Q13258	PD2R_HUMAN	Homo sapiens prostaglandin D2 receptor (DP) (PTGDR), mRNA.	58						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)	GCCCGCTGCCCTCGGTCTTCT	0.692000														21			7		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767055	77767055	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:77767055A>C	uc003yau.2	+	9	8285	c.7898A>C	c.(7897-7899)aAa>aCa	p.K2633T	ZFHX4_uc003yaw.1_Missense_Mutation_p.K2588T	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2588						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V2633M(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCTACCAGAAAAATGCTTGAT	0.493000										HNSCC(33;0.089)				28			3		0	0	1	0	0
LPPR1	54886	broad.mit.edu	37	9	104079713	104079713	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:104079713C>T	uc004bbb.3	+	6	1279	c.880C>T	c.(880-882)Ccc>Tcc	p.P294S	LPPR1_uc011lvi.2_Missense_Mutation_p.P270S|LPPR1_uc004bbc.3_Missense_Mutation_p.P294S|LPPR1_uc010mtc.3_Missense_Mutation_p.P278S	NM_207299	NP_997182	Q8TBJ4	LPPR1_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 1 (LPPR1), transcript variant 1, mRNA.	294						integral to membrane	catalytic activity										GCCTGAGGATCCCCGTGGAGT	0.483000														98			27		0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	141016374	141016374	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:141016374C>T	uc004cog.3	+	45	7082	c.6937C>T	c.(6937-6939)Cac>Tac	p.H2313Y	CACNA1B_uc022bqn.1_3'UTR|CACNA1B_uc004coi.3_Missense_Mutation_p.H1527Y	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	2315					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)	CAACGGTTACCACTGCACCCT	0.667000														44			12		0	0	1	0	0
LINGO2	158038	broad.mit.edu	37	9	27950174	27950174	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:27950174C>T	uc003zqv.1	-	6	1146	c.496G>A	c.(496-498)Gtt>Att	p.V166I	LINGO2_uc010mjf.1_Missense_Mutation_p.V166I|LINGO2_uc003zqu.1_Missense_Mutation_p.V166I|LINGO2_uc022bfc.1_Missense_Mutation_p.V166I	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 2 (LINGO2), mRNA.	166						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GATATATAAACCAAATCATTG	0.423000														7			6		0	0	1	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130778182	130778182	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:130778182G>A	uc003kvn.2	-	22	3676	c.3470C>T	c.(3469-3471)tCt>tTt	p.S1157F	RAPGEF6_uc003kvp.2_Missense_Mutation_p.S1207F|RAPGEF6_uc003kvo.2_Missense_Mutation_p.S1170F|RAPGEF6_uc010jdi.2_Missense_Mutation_p.S1165F|RAPGEF6_uc010jdj.2_Missense_Mutation_p.S1165F|RAPGEF6_uc003kvq.3_Missense_Mutation_p.S882F|RAPGEF6_uc011cxe.2_Non-coding_Transcript|RAPGEF6_uc003kvr.3_Missense_Mutation_p.S1157F|RAPGEF6_uc003kvm.2_Missense_Mutation_p.S80F	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 6 (RAPGEF6), transcript variant 2, mRNA.	1157					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AGGCACTGGAGACATTTCAGA	0.438000														58			15		0	0	1	0	0
CA10	56934	broad.mit.edu	37	17	49711004	49711004	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:49711004G>A	uc002itv.4	-	8	1551	c.815C>T	c.(814-816)tCc>tTc	p.S272F	CA10_uc002itw.4_Missense_Mutation_p.S266F|CA10_uc002itx.4_Missense_Mutation_p.S266F|CA10_uc002ity.4_Missense_Mutation_p.S266F|CA10_uc002itz.2_Missense_Mutation_p.S266F	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	Homo sapiens carbonic anhydrase X (CA10), transcript variant 2, mRNA.	266					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)			CAGGCGCAAGGAATGCATCTG	0.532000														60			5		0	0	1	0	0
AMOTL2	51421	broad.mit.edu	37	3	134084701	134084701	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:134084701G>A	uc003eqf.2	-	4	1528	c.1411C>T	c.(1411-1413)Cag>Tag	p.Q471*	AMOTL2_uc003eqg.1_Nonsense_Mutation_p.Q413*|AMOTL2_uc003eqh.1_Nonsense_Mutation_p.Q413*|AMOTL2_uc003eqe.1_Nonsense_Mutation_p.Q38*	NM_016201	NP_057285	Q9Y2J4	AMOL2_HUMAN	Homo sapiens angiomotin like 2 (AMOTL2), mRNA.	413										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						CTGCCGGCCTGGGCCTCCTGT	0.567000														64			30		0	0	1	0	0
ZFAT	57623	broad.mit.edu	37	8	135614561	135614561	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:135614561G>A	uc003yup.3	-	5	1587	c.1401C>T	c.(1399-1401)ttC>ttT	p.F467F	ZFAT_uc003yun.3_Silent_p.F455F|ZFAT_uc003yuo.3_Silent_p.F455F|ZFAT_uc010meh.3_Silent_p.F455F|ZFAT_uc010mej.3_Silent_p.F405F|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Silent_p.F455F|ZFAT_uc003yur.3_Silent_p.F455F	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.	467					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TGGAGCTGACGAACTTCTTGC	0.607000														29			10		0	0	1	0	0
DMBX1	127343	broad.mit.edu	37	1	46977718	46977718	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:46977718C>T	uc001cpx.3	+	3	716	c.701C>T	c.(700-702)tCc>tTc	p.S234F	DMBX1_uc001cpw.3_Missense_Mutation_p.S229F	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN	Homo sapiens diencephalon/mesencephalon homeobox 1 (DMBX1), transcript variant 2, mRNA.	234					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)					CTTGCAGATTCCCCAGGCAGC	0.612000														224			61		0	0	1	0	0
PRKAG2	51422	broad.mit.edu	37	7	151372603	151372603	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:151372603G>A	uc003wkk.3	-	3	1198	c.587C>T	c.(586-588)tCc>tTc	p.S196F	PRKAG2_uc011kvl.2_Missense_Mutation_p.S72F|PRKAG2_uc003wkj.3_Missense_Mutation_p.S152F|PRKAG2_uc010lqe.1_Non-coding_Transcript|PRKAG2_uc003wkm.1_Missense_Mutation_p.S196F	NM_016203	NP_077747	Q9UGJ0	AAKG2_HUMAN	Homo sapiens protein kinase, AMP-activated, gamma 2 non-catalytic subunit (PRKAG2), transcript variant a, mRNA.	196					ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		GTCCGGGGGGGAAGACGAGGC	0.587000														44			37		0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109399281	109399281	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:109399281C>T	uc002tem.4	+	27	9458	c.9332C>T	c.(9331-9333)tCc>tTc	p.S3111F		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	3111	PPIase cyclophilin-type.				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						TTCAAGAATTCCATTTTTCAC	0.393000														33			40		0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39228789	39228789	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:39228789G>A	uc003cjk.2	-	1	2377	c.2148C>T	c.(2146-2148)atC>atT	p.I716I	XIRP1_uc003cji.3_Silent_p.I716I|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Silent_p.I716I	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	716							actin binding	p.I716I(2)		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)		TGGACCCAGCGATTACCCGGG	0.592000														27			14		0	0	1	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	17966743	17966743	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:17966743C>T	uc001ban.3	+	20	2377	c.2218C>T	c.(2218-2220)Ccc>Tcc	p.P740S	ARHGEF10L_uc009vpe.1_Missense_Mutation_p.P701S|ARHGEF10L_uc001bao.3_Missense_Mutation_p.P701S|ARHGEF10L_uc001bap.3_Missense_Mutation_p.P696S|ARHGEF10L_uc001baq.3_Missense_Mutation_p.P501S|ARHGEF10L_uc010ocs.2_Missense_Mutation_p.P513S|ARHGEF10L_uc001bar.3_Missense_Mutation_p.P443S|ARHGEF10L_uc009vpf.3_Non-coding_Transcript	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10-like (ARHGEF10L), transcript variant 1, mRNA.	740					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	p.P740S(3)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CACCCCCAACCCCCTGAGCAA	0.572000														17			12		0	0	1	0	0
PFKFB1	5207	broad.mit.edu	37	X	54978520	54978520	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:54978520C>T	uc004dty.1	-	7	735	c.664G>A	c.(664-666)Gac>Aac	p.D222N	PFKFB1_uc010nkd.1_Intron|PFKFB1_uc011mol.1_Missense_Mutation_p.D157N	NM_002625	NP_002616	P16118	F261_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 (PFKFB1), mRNA.	222	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						GTGCCCACGTCGAAGATCTTG	0.567000														5			7		0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201030407	201030407	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:201030407C>T	uc001gvv.3	-	24	3470	c.3243G>A	c.(3241-3243)ctG>ctA	p.L1081L		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	1081					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GGTTCTTGTCCAGCTCACAGT	0.567000														22			13		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24762205	24762205	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:24762205C>T	uc001iru.4	+	5	1298	c.895C>T	c.(895-897)Cgc>Tgc	p.R299C	KIAA1217_uc001irs.3_Missense_Mutation_p.R219C|KIAA1217_uc001irt.4_Missense_Mutation_p.R299C|KIAA1217_uc010qcy.2_Missense_Mutation_p.R299C|KIAA1217_uc010qcz.2_Missense_Mutation_p.R299C|KIAA1217_uc001irv.1_Missense_Mutation_p.R149C|KIAA1217_uc010qda.1_Non-coding_Transcript|KIAA1217_uc001irw.3_Missense_Mutation_p.R17C|KIAA1217_uc001irz.3_Missense_Mutation_p.R17C|KIAA1217_uc001irx.3_Missense_Mutation_p.R17C|KIAA1217_uc001iry.3_Missense_Mutation_p.R17C	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	299	Pro-rich.				embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TGGGGCCCCTCGCCCCGGATC	0.517000														44			17		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10419298	10419298	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:10419298C>T	uc002gmo.3	-	4	544	c.450G>A	c.(448-450)gaG>gaA	p.E150E	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	150	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						GGGGTGGGGCCTCCTGGCGCT	0.498000														67			23		0	0	1	0	0
ACTL7A	10881	broad.mit.edu	37	9	111625232	111625232	+	Silent	SNP	A	G	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:111625232A>G	uc004bdj.1	+	0	630	c.630A>G	c.(628-630)ggA>ggG	p.G210G		NM_006687	NP_006678	Q9Y615	ACL7A_HUMAN	Homo sapiens actin-like 7A (ACTL7A), mRNA.	210						cytoplasm|cytoskeleton|protein complex	structural constituent of cytoskeleton			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						ACTCCTATGGAAGGACCTCCG	0.562000														48			13		0	0	1	0	0
ANKLE1	126549	broad.mit.edu	37	19	17394684	17394684	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:17394684C>T	uc010xpn.1	+	4	1387	c.1273C>T	c.(1273-1275)Cga>Tga	p.R425*	ANKLE1_uc010xpm.1_Non-coding_Transcript|ANKLE1_uc002nga.2_Nonsense_Mutation_p.R371*|ANKLE1_uc010eao.1_Nonsense_Mutation_p.R393*|ANKLE1_uc002nfy.2_Nonsense_Mutation_p.R360*|ANKLE1_uc002nfz.2_Nonsense_Mutation_p.R77*			Q8NAG6	ANKL1_HUMAN	Homo sapiens ankyrin repeat and LEM domain containing 1 (ANKLE1), mRNA.	371						nuclear envelope				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						GAAGGGACTCCGAGCACTTGG	0.577000														30			19		0	0	1	0	0
NANOG	79923	broad.mit.edu	37	12	7945562	7945562	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:7945562C>T	uc009zfy.1	+	1	384	c.168C>T	c.(166-168)tcC>tcT	p.S56S		NM_024865	NP_079141	Q9H9S0	NANOG_HUMAN	Homo sapiens Nanog homeobox (NANOG), mRNA.	56					cell proliferation|embryo development|somatic stem cell maintenance	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14				Kidney(36;0.0872)		CTCTTCCTTCCTCCATGGATC	0.378000														103			36		0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62599194	62599194	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:62599194G>A	uc010ihh.3	+	4	1290	c.1117G>A	c.(1117-1119)Gac>Aac	p.D373N	LPHN3_uc003hcq.4_Missense_Mutation_p.D373N|LPHN3_uc010ihg.1_Missense_Mutation_p.D441N|LPHN3_uc003hcs.1_Missense_Mutation_p.D202N	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	Homo sapiens latrophilin 3 (LPHN3), mRNA.	373	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CAACCCCAGGGACAACCTACT	0.398000														16			4		0	0	1	0	0
NOTCH2NL	388677	broad.mit.edu	37	1	145290446	145290446	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:145290446C>T	uc001emo.2	+	4	1022	c.652C>T	c.(652-654)Cct>Tct	p.P218S	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc010oyh.1_Non-coding_Transcript|NBPF10_uc021ouk.1_Intron|NBPF10_uc021oul.1_5'Flank|NBPF10_uc001emq.1_5'Flank	NM_203458	NP_982283	Q7Z3S9	NT2NL_HUMAN	Homo sapiens notch 2 N-terminal like (NOTCH2NL), mRNA.	0	EGF-like 6.				Notch signaling pathway|cell differentiation|multicellular organismal development	cytoplasm|extracellular region	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						GCCAATCTTTCCTAAGCTGCT	0.373000														180			8		0	0	1	0	0
TDRD9	122402	broad.mit.edu	37	14	104490994	104490994	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:104490994C>T	uc001yom.4	+	24	2725	c.2695C>T	c.(2695-2697)Ctt>Ttt	p.L899F	TDRD9_uc001yon.4_Missense_Mutation_p.L637F	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	Homo sapiens tudor domain containing 9 (TDRD9), mRNA.	899					DNA methylation involved in gamete generation|cell differentiation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				TACAGATCTCCTTCTAACTAT	0.398000														41			12		0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70493934	70493934	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:70493934G>A	uc001dep.3	+	15	1791	c.1761G>A	c.(1759-1761)gtG>gtA	p.V587V	LRRC7_uc009wbg.3_Intron	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	587						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						AAAATTTGGTGGGTAAGCCAA	0.388000														40			35		0	0	1	0	0
KIAA1644	85352	broad.mit.edu	37	22	44692683	44692683	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:44692683G>A	uc003bet.2	-	2	283	c.150C>T	c.(148-150)ctC>ctT	p.L50L		NM_001099294	NP_001092764	Q3SXP7	K1644_HUMAN	Homo sapiens KIAA1644 (KIAA1644), mRNA.	50						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				TGTTGTCCGAGAGCCGGGGGC	0.542000														335			45		0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19047037	19047037	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:19047037G>A	uc002dfp.2	+	6	1027	c.897G>A	c.(895-897)gaG>gaA	p.E299E	TMC7_uc010vao.1_Silent_p.E299E|TMC7_uc002dfq.3_Silent_p.E299E|TMC7_uc010vap.2_Silent_p.E189E	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA.	299						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						TTCGGAGTGAGGAGCACTTTC	0.483000														44			48		0	0	1	0	0
PRR13	54458	broad.mit.edu	37	12	53839812	53839812	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:53839812C>T	uc001scz.4	+	3	580	c.416C>T	c.(415-417)tCc>tTc	p.S139F	PRR13_uc001scy.4_Missense_Mutation_p.S89F|PCBP2_uc010soh.1_Intron|PRR13_uc001sda.4_Missense_Mutation_p.S139F	NM_018457	NP_060927	Q9NZ81	PRR13_HUMAN	Homo sapiens proline rich 13 (PRR13), transcript variant 2, mRNA.	139	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(1)|urinary_tract(1)	6						TCCTCCTCTTCCTCCTCCTCT	0.522000														26			38		0	0	1	0	0
FGF23	8074	broad.mit.edu	37	12	4479941	4479941	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:4479941G>A	uc001qmq.1	-	2	470	c.324C>T	c.(322-324)ttC>ttT	p.F108F		NM_020638	NP_065689	Q9GZV9	FGF23_HUMAN	Homo sapiens fibroblast growth factor 23 (FGF23), mRNA.	108					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity	p.F108F(2)		NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			TCTCCGGGTCGAAATAGTGCT	0.617000														53			15		0	0	1	0	0
AGK	55750	broad.mit.edu	37	7	141301038	141301038	+	Silent	SNP	C	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:141301038C>A	uc003vwi.2	+	4	426	c.255C>A	c.(253-255)gcC>gcA	p.A85A	AGK_uc011krg.1_Non-coding_Transcript	NM_018238	NP_060708	Q53H12	AGK_HUMAN	Homo sapiens acylglycerol kinase (AGK), nuclear gene encoding mitochondrial protein, mRNA.	85	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	ATP binding|NAD+ kinase activity|acylglycerol kinase activity|diacylglycerol kinase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					AAAATGCTGCCCCGATTTTAC	0.358000														45			11		4.93089e-13	5.0028e-13	1	1	0
CASD1	64921	broad.mit.edu	37	7	94166830	94166830	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:94166830C>A	uc003uni.4	+	8	1117	c.890C>A	c.(889-891)cCt>cAt	p.P297H	CASD1_uc003unh.2_3'UTR|CASD1_uc003unj.4_Missense_Mutation_p.P297H	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	Homo sapiens CAS1 domain containing 1 (CASD1), mRNA.	297						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)			ATTTTGAAGCCTGTAGATGGG	0.343000														107			25		7.26314e-15	7.38136e-15	1	1	0
PRDM1	639	broad.mit.edu	37	6	106553132	106553132	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:106553132G>A	uc003prd.2	+	4	1331	c.1097G>A	c.(1096-1098)gGc>gAc	p.G366D	PRDM1_uc003pre.3_Missense_Mutation_p.G232D	NM_001198	NP_001189	O75626	PRDM1_HUMAN	Homo sapiens PR domain containing 1, with ZNF domain (PRDM1), transcript variant 1, mRNA.	366					negative 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(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		GTGGGCCCCGGCTCTCAAGAG	0.647000			"""D, N, Mis, F, S"""		DLBCL									21			13		0	0	1	0	0
RYBP	23429	broad.mit.edu	37	3	72427589	72427589	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:72427589G>A	uc003dpe.3	-	3	604	c.604C>T	c.(604-606)Cgt>Tgt	p.R202C		NM_012234	NP_036366	Q8N488	RYBP_HUMAN	Homo sapiens RING1 and YY1 binding protein (RYBP), mRNA.	212	Interaction with E4TF1B.|Ser-rich.				apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			prostate(1)|upper_aerodigestive_tract(1)	2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		GTGGAGGAACGGGAGGAGCCC	0.502000														10			8		0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50318524	50318525	+	Missense_Mutation	DNP	TC	AA	AA			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:50318524_50318525TC>AA	uc021vhh.1	-	17	4575_4576	c.3654_3655GA>TT	c.(3652-3657)acgagg>acTTgg	p.R1219W	NRXN1_uc010fbp.3_Missense_Mutation_p.R184W|NRXN1_uc002rxb.4_Missense_Mutation_p.R891W|NRXN1_uc021vhg.1_Missense_Mutation_p.R1259W|NRXN1_uc021vhi.1_Missense_Mutation_p.R1255W|NRXN1_uc021vhj.1_Missense_Mutation_p.R1215W	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	1219	Laminin G-like 6.				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)			CCACCACTCCTCGTGAAACGAA	0.450000														73			33		0	0	1	0	0
PRDM15	63977	broad.mit.edu	37	21	43298834	43298834	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr21:43298834G>A	uc002yzq.1	-	2	494	c.383C>T	c.(382-384)cCc>cTc	p.P128L	PRDM15_uc002yzo.3_Intron|PRDM15_uc002yzp.3_Intron|PRDM15_uc002yzr.1_Intron	NM_022115	NP_071398	P57071	PRD15_HUMAN	Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA.	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CGCGGGGTTGGGGGTCCAGGG	0.672000														16			5		0	0	1	0	0
KRTAP4-12	83755	broad.mit.edu	37	17	39279796	39279796	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	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														15			3		0	0	1	0	0
USF1	7391	broad.mit.edu	37	1	161010648	161010648	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:161010648G>A	uc001fxi.3	-	7	770	c.575C>T	c.(574-576)cCc>cTc	p.P192L	F11R_uc010pjw.2_5'Flank|F11R_uc001fxf.4_5'Flank|F11R_uc010pjx.2_5'Flank|F11R_uc009wtw.3_5'Flank|F11R_uc001fxh.4_5'Flank|USF1_uc001fxj.3_Missense_Mutation_p.P133L	NM_007122	NP_996888	P22415	USF1_HUMAN	Homo sapiens upstream transcription factor 1 (USF1), transcript variant 1, mRNA.	192					cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to UV|response to hypoxia	transcription factor complex	bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.P192A(1)		central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			AGTCGTCCGGGGAGCTTCTGA	0.478000														28			23		0	0	1	0	0
SMPD3	55512	broad.mit.edu	37	16	68405833	68405833	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:68405833G>A	uc002ewa.3	-	2	674	c.252C>T	c.(250-252)ttC>ttT	p.F84F	SMPD3_uc010cfe.3_Silent_p.F84F|SMPD3_uc010vlh.2_Silent_p.F84F	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) (SMPD3), mRNA.	84					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	GTGGGGACCAGAAGAGAAAGC	0.647000														4			12		0	0	1	0	0
C3orf17	25871	broad.mit.edu	37	3	112724519	112724519	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:112724519A>T	uc003dzr.3	-	8	1629	c.1568T>A	c.(1567-1569)aTt>aAt	p.I523N	C3orf17_uc011bia.2_Missense_Mutation_p.I320N|C3orf17_uc003dzu.3_Missense_Mutation_p.I452N|C3orf17_uc011bib.2_Missense_Mutation_p.I412N|C3orf17_uc011bic.2_Missense_Mutation_p.I356N|C3orf17_uc011bid.2_Non-coding_Transcript|C3orf17_uc011bhz.2_Missense_Mutation_p.I148N|C3orf17_uc003dzt.3_Missense_Mutation_p.I426N|C3orf17_uc003dzs.3_Missense_Mutation_p.I387N|C3orf17_uc010hqg.3_Missense_Mutation_p.I348N	NM_015412	NP_056227	Q6NW34	CC017_HUMAN	Homo sapiens chromosome 3 open reading frame 17 (C3orf17), transcript variant 1, mRNA.	523						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						ATTTTCATGAATCATTTTCTC	0.378000														49			38		0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53779852	53779852	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:53779852G>A	uc003dgv.4	+	24	3280	c.3117G>A	c.(3115-3117)ggG>ggA	p.G1039G	CACNA1D_uc003dgu.4_Silent_p.G1059G|CACNA1D_uc003dgy.4_Silent_p.G1039G|CACNA1D_uc003dgw.4_Silent_p.G706G|CACNA1D_uc003dgx.1_Silent_p.G187G	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	1039					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)	ATACCCAGGGGAAGTTCTATC	0.458000														7			9		0	0	1	0	0
SYCE1	93426	broad.mit.edu	37	10	135369161	135369161	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:135369161G>A	uc001lno.2	-	10	875	c.770C>T	c.(769-771)gCt>gTt	p.A257V	CYP2E1_uc001lnl.1_3'UTR|SYCE1_uc001lnm.2_Missense_Mutation_p.A129V|SYCE1_uc009ybn.2_Missense_Mutation_p.A257V|SYCE1_uc001lnn.2_Missense_Mutation_p.A221V	NM_001143764	NP_001137236	Q8N0S2	SYCE1_HUMAN	Homo sapiens synaptonemal complex central element protein 1 (SYCE1), transcript variant 4, mRNA.	257					cell division	central element				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		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)		gcgctgggcagcagctgctAG	0.662000														46			10		0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1926532	1926532	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:1926532G>A	uc002qxe.3	-	9	1836	c.1009C>T	c.(1009-1011)Ctg>Ttg	p.L337L	MYT1L_uc002qxd.3_Silent_p.L337L|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	337					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D336N(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TTCCTGGCCAGGTCGAAGCAC	0.557000														12			18		0	0	1	0	0
KIAA1755	85449	broad.mit.edu	37	20	36869135	36869135	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:36869135G>A	uc002xhy.1	-	2	1670	c.1398C>T	c.(1396-1398)ccC>ccT	p.P466P	KIAA1755_uc002xhz.1_Silent_p.P466P	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	Homo sapiens KIAA1755 (KIAA1755), mRNA.	466										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)				CAGGAGTGGGGGGCTCAGGGG	0.562000														49			38		0	0	1	0	0
OR1L3	26735	broad.mit.edu	37	9	125438296	125438296	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:125438296G>A	uc011lzb.2	+	0	888	c.888G>A	c.(886-888)atG>atA	p.M296I		NM_001005234	NP_001005234	Q8NH93	OR1L3_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 3 (OR1L3), mRNA.	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D295Y(1)		breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						ACAAAGACATGAAACGGGGCT	0.378000														24			8		0	0	1	0	0
OR2T2	401992	broad.mit.edu	37	1	248617031	248617031	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:248617031C>T	uc001iek.1	+	0	933	c.933C>T	c.(931-933)tcC>tcT	p.S311S		NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 2 (OR2T2), mRNA.	311					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)			GATGTGGTTCCTCCCAGAGCA	0.547000														29			15		0	0	1	0	0
PCDHB9	56127	broad.mit.edu	37	5	140567320	140567320	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:140567320C>T	uc003liw.1	+	0	428	c.428C>T	c.(427-429)tCa>tTa	p.S143L		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	Homo sapiens protocadherin beta 9 (PCDHB9), mRNA.	143	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding							KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTAAAAATATCAGAAAATACA	0.428000														60			23		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9058777	9058777	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:9058777C>T	uc002mkp.3	-	2	28873	c.28669G>A	c.(28669-28671)Gac>Aac	p.D9557N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9559	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						ACCATGTTGTCTCTTATAGAG	0.488000														30			11		0	0	1	0	0
LCN1	3933	broad.mit.edu	37	9	138416994	138416994	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:138416994G>A	uc022bpk.1	+	5	578	c.518G>A	c.(517-519)gGa>gAa	p.G173E	LCN1_uc022bpj.1_Missense_Mutation_p.G170E|LCN1_uc004cfz.2_Silent_p.G174G|LCN1_uc004cga.2_Silent_p.G174G	NM_001252618	NP_001239547	P31025	LCN1_HUMAN	Homo sapiens lipocalin 1 (LCN1), transcript variant 3, mRNA.	0					proteolysis|response to stimulus|sensory perception of taste	extracellular region	cysteine-type endopeptidase inhibitor activity|transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)	13		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)		GCTCTCCAGGGAGCGATTAGG	0.572000														43			9		0	0	1	0	0
LPIN3	64900	broad.mit.edu	37	20	39979003	39979003	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:39979003C>T	uc010ggh.3	+	6	1162	c.1071C>T	c.(1069-1071)ccC>ccT	p.P357P	LPIN3_uc002xjx.3_Silent_p.P356P|LPIN3_uc010zwf.2_Non-coding_Transcript	NM_022896	NP_075047	Q9BQK8	LPIN3_HUMAN	Homo sapiens lipin 3 (LPIN3), mRNA.	356					fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				TTCCAGTTCCCACCGGGCAGC	0.652000														22			11		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38651333	38651333	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:38651333G>A	uc021wvo.1	-	5	878	c.826C>T	c.(826-828)Cta>Tta	p.L276L	SCN5A_uc021wvk.1_Silent_p.L276L|SCN5A_uc021wvl.1_Silent_p.L276L|SCN5A_uc021wvm.1_Silent_p.L276L|SCN5A_uc021wvn.1_Silent_p.L276L|SCN5A_uc021wvp.1_Silent_p.L276L|SCN5A_uc021wvq.1_Silent_p.L276L|SCN5A_uc021wvr.1_Silent_p.L276L|SCN5A_uc021wvs.1_Silent_p.L276L|SCN5A_uc021wvt.1_Silent_p.L276L|SCN5A_uc021wvu.1_Silent_p.L276L|SCN5A_uc021wvv.1_Silent_p.L276L|SCN5A_uc021wvj.1_Silent_p.L142L|SCN5A_uc021wvi.1_Silent_p.L142L|SCN5A_uc010hhl.1_Silent_p.L99L	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	276					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TTGTGCCTTAGGTTGCCCATG	0.587000														55			19		0	0	1	0	0
GRXCR1	389207	broad.mit.edu	37	4	42895555	42895555	+	Missense_Mutation	SNP	G	A	A	rs113203706		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:42895555G>A	uc003gwt.3	+	0	273	c.272G>A	c.(271-273)gGt>gAt	p.G91D		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	Homo sapiens glutaredoxin, cysteine rich 1 (GRXCR1), mRNA.	91			G -> V.		cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						AGTGAGAAGGGTTTTGGTACA	0.458000														50			38		0	0	1	0	0
STAP1	26228	broad.mit.edu	37	4	68459045	68459045	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:68459045C>T	uc003hde.4	+	7	879	c.797C>T	c.(796-798)cCa>cTa	p.P266L	STAP1_uc003hdf.3_Missense_Mutation_p.P266L	NM_012108	NP_036240	Q9ULZ2	STAP1_HUMAN	Homo sapiens signal transducing adaptor family member 1 (STAP1), mRNA.	266	SH2.				cellular membrane fusion|intracellular protein transport	cytoplasm				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						AATTTAAGACCATTTATATGT	0.343000														50			30		0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23910931	23910931	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr13:23910931G>A	uc001uon.2	-	9	7673	c.7084C>T	c.(7084-7086)Cat>Tat	p.H2362Y	SACS_uc001uoo.2_Missense_Mutation_p.H2215Y|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	2362					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAATTTAAATGAAAAGAAACC	0.343000														21			6		0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24350738	24350738	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:24350738G>A	uc003xeb.3	+	15	1951	c.1838G>A	c.(1837-1839)gGa>gAa	p.G613E	ADAM7_uc003xec.3_Missense_Mutation_p.G385E	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	613	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TGTGGAGAGGGAATGGTAAGA	0.363000														13			3		0	0	1	0	0
OR52D1	390066	broad.mit.edu	37	11	5510573	5510573	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:5510573G>A	uc010qzg.2	+	0	659	c.637G>A	c.(637-639)Gat>Aat	p.D213N	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001005163	NP_001005163	Q9H346	O52D1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily D, member 1 (OR52D1), mRNA.	213			D -> E (in dbSNP:rs7924754).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATGGGACTGGATTCCATTCT	0.498000														95			50		0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130919362	130919362	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:130919362C>T	uc001uil.2	-	10	2335	c.2119G>A	c.(2119-2121)Gag>Aag	p.E707K	RIMBP2_uc001uim.3_Missense_Mutation_p.E615K	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	707						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TAGGCGTCCTCCTCGTCTGAG	0.602000														70			58		0	0	1	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7676661	7676661	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:7676661C>T	uc002mgu.4	+	12	1464	c.1363C>T	c.(1363-1365)Cgc>Tgc	p.R455C	CAMSAP3_uc002mgv.4_Missense_Mutation_p.R428C|CAMSAP3_uc002mgw.3_5'Flank	NM_001080429	NP_001073898	Q9P1Y5	CAMP3_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 3 (CAMSAP3), transcript variant 1, mRNA.	428	Pro-rich.				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						TGTGCTCCTCCGCTCTGTGAG	0.716000														4			5		0	0	1	0	0
ZP2	7783	broad.mit.edu	37	16	21212827	21212827	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:21212827G>A	uc010bwn.1	-	13	1729	c.1647C>T	c.(1645-1647)ttC>ttT	p.F549F	ZP2_uc002dii.2_Silent_p.F519F	NM_003460	NP_003451	Q05996	ZP2_HUMAN	Homo sapiens zona pellucida glycoprotein 2 (sperm receptor) (ZP2), mRNA.	519	ZP.				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)		GTTGGCGGAGGAATCTCACTA	0.453000														74			20		0	0	1	0	0
POLR3C	10623	broad.mit.edu	37	1	145598600	145598600	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:145598600G>T	uc001eog.3	-	7	975	c.932C>A	c.(931-933)cCt>cAt	p.P311H	POLR3C_uc001eoh.3_Missense_Mutation_p.P298H|POLR3C_uc009wix.3_Missense_Mutation_p.P298H	NM_006468	NP_006459	Q9BUI4	RPC3_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide C (62kD) (POLR3C), mRNA.	298					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			ATAGCCAACAGGTAGGGATCT	0.398000														72			18		4.63292e-17	4.71621e-17	1	1	0
HYDIN	54768	broad.mit.edu	37	16	71101260	71101260	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:71101260C>T	uc002ezr.3	-	14	2159	c.2008G>A	c.(2008-2010)Gag>Aag	p.E670K	HYDIN_uc010cfz.2_Missense_Mutation_p.E415K|HYDIN_uc021tkq.1_Missense_Mutation_p.E670K|HYDIN_uc010vmc.2_Missense_Mutation_p.E687K|HYDIN_uc010vmd.2_Missense_Mutation_p.E697K|HYDIN_uc002ezw.4_Missense_Mutation_p.E687K	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	670										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)				AGTGCCAGCTCGTATTTCTGC	0.527000														31			8		0	0	1	0	0
HCK	3055	broad.mit.edu	37	20	30689246	30689246	+	Missense_Mutation	SNP	C	T	T	rs17093828		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:30689246C>T	uc002wxh.3	+	12	1742	c.1505C>T	c.(1504-1506)cCg>cTg	p.P502L	HCK_uc010gdy.3_Missense_Mutation_p.P482L|HCK_uc021wbv.1_Missense_Mutation_p.P481L|HCK_uc002wxi.3_Missense_Mutation_p.P480L	NM_001172133	NP_001165604	P08631	HCK_HUMAN	Homo sapiens hemopoietic cell kinase (HCK), transcript variant 4, mRNA.	502	Protein kinase.		P -> Q (in dbSNP:rs17093828).		interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GAGGAGCGGCCGACCTTCGAA	0.592000														26			10		0	0	1	0	0
OR8J3	81168	broad.mit.edu	37	11	55904960	55904960	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:55904960G>A	uc010riz.2	-	0	235	c.235C>T	c.(235-237)Cct>Tct	p.P79S		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 3 (OR8J3), mRNA.	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P79N(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					AGCATTTTAGGGGCAATGACA	0.418000														66			41		0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48613984	48613984	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:48613984G>A	uc003ctz.2	-	67	5708	c.5707C>T	c.(5707-5709)Cct>Tct	p.P1903S		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1903	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGGACACCAGGAAAACCCTGA	0.597000														3			3		0	0	1	0	0
PTPRH	5794	broad.mit.edu	37	19	55707973	55707973	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:55707973C>T	uc002qjq.3	-	9	2247	c.2174G>A	c.(2173-2175)cGg>cAg	p.R725Q	PTPRH_uc010esv.3_Missense_Mutation_p.R547Q|PTPRH_uc002qjs.2_Missense_Mutation_p.R732Q	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.	725	Fibronectin type-III 8.				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)		TGGGTAGGACCGAGCCGGCCC	0.637000														35			17		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233394228	233394228	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:233394228C>T	uc001hvl.2	-	4	1615	c.1380G>A	c.(1378-1380)acG>acA	p.T460T	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.	460						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)				TGGATACCCTCGTCTTCAGTC	0.552000														12			28		0	0	1	0	0
KCNU1	157855	broad.mit.edu	37	8	36671744	36671744	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:36671744C>T	uc010lvw.3	+	7	839	c.752C>T	c.(751-753)cCc>cTc	p.P251L	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.	251						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TCTGGTGATCCCTGGCTCAAA	0.383000														15			3		0	0	1	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2272490	2272490	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:2272490G>A	uc003gex.2	-	12	2946	c.2626C>T	c.(2626-2628)Cat>Tat	p.H876Y	ZFYVE28_uc011bvk.2_Missense_Mutation_p.H806Y|ZFYVE28_uc011bvl.2_Missense_Mutation_p.H846Y|ZFYVE28_uc003gew.2_Missense_Mutation_p.H762Y	NM_020972	NP_001166130	Q9HCC9	LST2_HUMAN	Homo sapiens zinc finger, FYVE domain containing 28 (ZFYVE28), transcript variant 2, mRNA.	876					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GGCGTGACATGGAACATGTAG	0.667000														65			13		0	0	1	0	0
MMP16	4325	broad.mit.edu	37	8	89339334	89339334	+	Silent	SNP	G	A	A	rs148050831	byFrequency	TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:89339334G>A	uc003yeb.4	-	0	384	c.102C>T	c.(100-102)gtC>gtT	p.V34V		NM_005941	NP_005932	P51512	MMP16_HUMAN	Homo sapiens matrix metallopeptidase 16 (membrane-inserted) (MMP16), mRNA.	34					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						CCGTTCCGCAGACTGTAGCAC	0.498000														36			13		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144945495	144945495	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:144945495G>A	uc003zaa.1	-	0	1940	c.1927C>T	c.(1927-1929)Ctt>Ttt	p.L643F		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	643						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)			GCCTCCAGAAGGATGAGGGCA	0.627000														11			4		0	0	1	0	0
SUFU	51684	broad.mit.edu	37	10	104264044	104264044	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:104264044C>T	uc001kvy.2	+	0	326	c.135C>T	c.(133-135)taC>taT	p.Y45Y	SUFU_uc001kvw.2_Silent_p.Y45Y|SUFU_uc001kvx.3_Silent_p.Y45Y|ACTR1A_uc001kvv.3_5'Flank|ACTR1A_uc010qqn.2_5'Flank|ACTR1A_uc010qqo.2_5'Flank	NM_016169	NP_057253	Q9UMX1	SUFU_HUMAN	Homo sapiens suppressor of fused homolog (Drosophila) (SUFU), transcript variant 1, mRNA.	45					negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		GCCGCCTTTACCCTGACCAGC	0.687000			"""D, F, S"""		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation					48			12		0	0	1	0	0
MAP3K13	9175	broad.mit.edu	37	3	185167835	185167835	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:185167835G>A	uc010hyf.3	+	6	1449	c.1158G>A	c.(1156-1158)atG>atA	p.M386I	MAP3K13_uc011brt.2_Missense_Mutation_p.M179I|MAP3K13_uc003fph.4_Missense_Mutation_p.M154I|MAP3K13_uc011bru.2_Missense_Mutation_p.M242I|MAP3K13_uc003fpi.3_Missense_Mutation_p.M386I|MAP3K13_uc010hyg.3_Missense_Mutation_p.M76I	NM_001242314	NP_001229243	O43283	M3K13_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 13 (MAP3K13), transcript variant 2, mRNA.	386	Protein kinase.				JNK cascade|activation of MAPKK activity|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AAATCCTTATGAAACAGACGT	0.418000														52			13		0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17496519	17496519	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:17496519G>A	uc001mnc.3	-	1	330	c.204C>T	c.(202-204)ttC>ttT	p.F68F	ABCC8_uc010rcy.1_Silent_p.F68F|ABCC8_uc021qej.1_Intron	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	68					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	TGTGCCCAGGGAAATGAAGCC	0.572000														27			7		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100678489	100678489	+	Silent	SNP	A	G	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:100678489A>G	uc003uxp.1	+	2	3845	c.3792A>G	c.(3790-3792)gaA>gaG	p.E1264E	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1264	59 X approximate tandem repeats.|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)					CAACCGCTGAAGGTACCAGCT	0.522000														325			74		0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48829839	48829839	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:48829839G>A	uc001zwx.2	-	6	1100	c.705C>T	c.(703-705)ttC>ttT	p.F235F		NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	235	TB 1.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TATTTGGAATGAAGCCACGGC	0.537000														103			17		0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139890060	139890060	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:139890060G>A	uc003yvd.3	-	2	1038	c.591C>T	c.(589-591)gtC>gtT	p.V197V		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	197	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			ACACGTGGAAGACGTGGGCGG	0.667000										HNSCC(7;0.00092)				32			14		0	0	1	0	0
LOC442132	442132	broad.mit.edu	37	5	7303853	7303853	+	RNA	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:7303853C>T	uc003jdy.2	-	4		c.501G>A								Homo sapiens golgin A6 family-like 1 pseudogene (LOC442132), non-coding RNA.																		CTTCAAATTTCCTGGCAGCAT	0.502000														8			15		0	0	1	0	0
CSF1R	1436	broad.mit.edu	37	5	149457785	149457785	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:149457785G>A	uc003lrl.3	-	3	814	c.619C>T	c.(619-621)Ctg>Ttg	p.L207L	CSF1R_uc011dcd.2_Silent_p.L59L|CSF1R_uc010jhc.3_Non-coding_Transcript|CSF1R_uc003lrm.3_Silent_p.L207L|CSF1R_uc011dce.1_Silent_p.L207L|CSF1R_uc011dcf.2_Silent_p.L207L	NM_005211	NP_005202	P07333	CSF1R_HUMAN	Homo sapiens colony stimulating factor 1 receptor (CSF1R), mRNA.	207	Ig-like C2-type 3.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	GCAGGCACCAGTGTCAAGGCT	0.582000														27			7		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	33998726	33998726	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:33998726G>A	uc001bxm.1	-	63	10272	c.10095C>T	c.(10093-10095)ttC>ttT	p.F3365F	CSMD2_uc001bxn.1_Silent_p.F3221F	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	3221						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)				CCTTGAGGGAGAAGCCCTCCT	0.657000														19			12		0	0	1	0	0
HDC	3067	broad.mit.edu	37	15	50546416	50546416	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:50546416G>A	uc001zxz.3	-	5	973	c.631C>T	c.(631-633)Ctg>Ttg	p.L211L	HDC_uc001zxy.3_5'Flank|HDC_uc010uff.2_Silent_p.L211L|HDC_uc010bet.2_Silent_p.L132L|HDC_uc010beu.2_Silent_p.L211L	NM_002112	NP_002103	P19113	DCHS_HUMAN	Homo sapiens histidine decarboxylase (HDC), mRNA.	211					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)	TCCACAGGCAGAAATTTCATC	0.512000														58			18		0	0	1	0	0
ILF3	3609	broad.mit.edu	37	19	10794364	10794364	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:10794364C>T	uc002mpn.3	+	15	2221	c.1904C>T	c.(1903-1905)cCa>cTa	p.P635L	ILF3_uc010xli.1_Missense_Mutation_p.P233L|ILF3_uc002mpm.2_Missense_Mutation_p.P639L|ILF3_uc002mpl.2_Missense_Mutation_p.P635L|ILF3_uc002mpk.2_Missense_Mutation_p.P635L|ILF3_uc002mpo.3_Missense_Mutation_p.P639L|ILF3_uc002mpp.3_Missense_Mutation_p.P460L|ILF3_uc002mpq.3_5'Flank	NM_012218	NP_036350	Q12906	ILF3_HUMAN	Homo sapiens interleukin enhancer binding factor 3, 90kDa (ILF3), transcript variant 1, mRNA.	635	Interaction with PRMT1.|Poly-Pro.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			GAAGTGCCCCCACCCCCCAAC	0.622000														27			16		0	0	1	0	0
FBXO40	51725	broad.mit.edu	37	3	121345595	121345595	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:121345595A>T	uc003eeg.2	+	3	2178	c.1968A>T	c.(1966-1968)gaA>gaT	p.E656D		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	Homo sapiens F-box protein 40 (FBXO40), mRNA.	656					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		AGTTTAATGAAGTCACCTCCA	0.463000														118			31		0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15646282	15646283	+	Missense_Mutation	DNP	TT	GG	GG			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:15646282_15646283TT>GG	uc001ioc.1	-	19	2042_2043	c.2042_2043AA>CC	c.(2041-2043)gaa>gCC	p.E681A	ITGA8_uc010qcb.1_Missense_Mutation_p.E666A	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	681					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.G680V(1)|p.G680G(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CATATGCTCCTTCCCCTTCATT	0.356000														37			14		0	0	1	0	0
CECR5	27440	broad.mit.edu	37	22	17630532	17630532	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:17630532G>A	uc002zmf.3	-	1	258	c.230C>T	c.(229-231)tCc>tTc	p.S77F	CECR5_uc002zmh.3_Missense_Mutation_p.S47F	NM_033070	NP_149061	Q9BXW7	CECR5_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 5 (CECR5), transcript variant 2, mRNA.	77							hydrolase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				CTGCCCCTGGGAGTTCACCAG	0.587000														102			46		0	0	1	0	0
PGS1	9489	broad.mit.edu	37	17	76399825	76399825	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:76399825C>T	uc002jvm.3	+	6	1069	c.1057C>T	c.(1057-1059)Ccg>Tcg	p.P353S	PGS1_uc010wtt.2_Non-coding_Transcript|PGS1_uc010dho.3_Non-coding_Transcript|PGS1_uc002jvn.3_Missense_Mutation_p.P66S|PGS1_uc002jvo.3_Non-coding_Transcript|PGS1_uc002jvp.1_Missense_Mutation_p.P66S	NM_024419	NP_077733	Q32NB8	PGPS1_HUMAN	Homo sapiens phosphatidylglycerophosphate synthase 1 (PGS1), mRNA.	353					phospholipid biosynthetic process	endoplasmic reticulum|mitochondrion	ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			CTGGATTTATCCGCTGATTCA	0.552000														64			30		0	0	1	0	0
GPX6	257202	broad.mit.edu	37	6	28474096	28474096	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:28474096C>T	uc021yrx.1	-	2	402	c.352G>A	c.(352-354)Ggt>Agt	p.G118S	GPX6_uc010jrg.1_Non-coding_Transcript	NM_182701	NP_874360	P59796	GPX6_HUMAN	Homo sapiens glutathione peroxidase 6 (olfactory) (GPX6), mRNA.	118					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	CACTTGAGACCAAGAAGTATT	0.473000														40			6		0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10295225	10295225	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:10295225A>G	uc002gmm.2	-	38	5733	c.5638T>C	c.(5638-5640)Tca>Cca	p.S1880P	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1880					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						CTCTTGTATGATTTCACCTTC	0.383000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					30			69		0	0	1	0	0
KRT4	3851	broad.mit.edu	37	12	53202631	53202631	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:53202631G>A	uc001saz.3	-	4	1060	c.1060C>T	c.(1060-1062)Ctg>Ttg	p.L354L		NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN	Homo sapiens keratin 4 (KRT4), mRNA.	280						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						ATCTGGGACAGCTCCTGCAGG	0.562000														17			29		0	0	1	0	0
C6orf201	404220	broad.mit.edu	37	6	4099425	4099425	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:4099425G>A	uc003mwa.4	+	2	1045	c.277G>A	c.(277-279)Gtt>Att	p.V93I	C6orf201_uc003mvz.4_Non-coding_Transcript|C6orf201_uc011dhw.1_Missense_Mutation_p.V93I|C6orf201_uc003mwb.4_Non-coding_Transcript	NM_001085401	NP_001078870	Q7Z4U5	CF201_HUMAN	Homo sapiens chromosome 6 open reading frame 201 (C6orf201), mRNA.	93										central_nervous_system(1)|endometrium(3)|lung(2)	6	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				GTCCACCATAGTTGTCAGGTA	0.393000														52			11		0	0	1	0	0
NPDC1	56654	broad.mit.edu	37	9	139937542	139937542	+	Silent	SNP	A	G	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:139937542A>G	uc004cks.2	-	0	1003	c.330T>C	c.(328-330)ccT>ccC	p.P110P	NPDC1_uc004ckt.2_Intron	NM_015392	NP_056207	Q9NQX5	NPDC1_HUMAN	Homo sapiens neural proliferation, differentiation and control, 1 (NPDC1), mRNA.	32						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)		AGGAAGCAGAAGGCAGGGCCG	0.731000														20			5		0	0	1	0	0
SLC17A3	10786	broad.mit.edu	37	6	25868580	25868580	+	Silent	SNP	C	T	T	rs148170965		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:25868580C>T	uc003nfk.4	-	1	146	c.36G>A	c.(34-36)agG>agA	p.R12R	SLC17A3_uc003nfi.4_Silent_p.R12R|SLC17A3_uc011djz.1_Silent_p.R12R|SLC17A3_uc011dka.1_Silent_p.R12R	NM_001098486	NP_001091956	O00476	NPT4_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 3 (SLC17A3), transcript variant 1, mRNA.	12					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						TCTTGCTCTCCCTTGCTGTGG	0.438000														29			11		0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196642220	196642220	+	Silent	SNP	A	G	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:196642220A>G	uc001gtj.4	+	1	411	c.171A>G	c.(169-171)agA>agG	p.R57R	CFH_uc001gti.4_Silent_p.R57R|CFH_uc009wyw.3_Silent_p.R57R|CFH_uc009wyx.3_Silent_p.R57R	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	57	Sushi 1.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CTGGATATAGATCTCTTGGAA	0.393000														40			30		0	0	1	0	0
FES	2242	broad.mit.edu	37	15	91428316	91428316	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:91428316G>A	uc002bpv.3	+	1	160	c.41G>A	c.(40-42)gGg>gAg	p.G14E	FES_uc010uqj.2_Missense_Mutation_p.G14E|FES_uc010uqk.2_Missense_Mutation_p.G14E|FES_uc002bpx.3_Missense_Mutation_p.G14E|FES_uc002bpy.3_Missense_Mutation_p.G14E|FES_uc010bny.3_Missense_Mutation_p.G14E	NM_002005	NP_001996	P07332	FES_HUMAN	Homo sapiens feline sarcoma oncogene (FES), transcript variant 1, mRNA.	14	FCH.|Important for interaction with membranes containing phosphoinositides.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CAGGGCCACGGGGTCCTGCAG	0.617000														653			49		0	0	1	0	0
PADI2	11240	broad.mit.edu	37	1	17420171	17420171	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:17420171C>T	uc001baf.3	-	4	502	c.420G>A	c.(418-420)tgG>tgA	p.W140*	PADI2_uc010ocm.2_Intron|PADI2_uc001bag.1_Nonsense_Mutation_p.W140*	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN	Homo sapiens peptidyl arginine deiminase, type II (PADI2), mRNA.	140					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	p.W140*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	GGCCCCAGGTCCAGGATGCCT	0.587000														45			14		0	0	1	0	0
NRCAM	4897	broad.mit.edu	37	7	107832251	107832251	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:107832251C>T	uc022aka.1	-	14	1931	c.1825G>A	c.(1825-1827)Gat>Aat	p.D609N	NRCAM_uc011kmk.2_Missense_Mutation_p.D609N|NRCAM_uc003vfd.3_Missense_Mutation_p.D590N|NRCAM_uc003vfe.3_Missense_Mutation_p.D590N|NRCAM_uc003vfc.3_Missense_Mutation_p.D603N	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	Homo sapiens neuronal cell adhesion molecule (NRCAM), transcript variant 1, mRNA.	609	Ig-like 6.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CCGCTGTCATCGTCACTGACA	0.502000														44			24		0	0	1	0	0
TYRO3	7301	broad.mit.edu	37	15	41863828	41863828	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:41863828C>T	uc001zof.2	+	13	1932	c.1696C>T	c.(1696-1698)Ctc>Ttc	p.L566F		NM_006293	NP_006284	Q06418	TYRO3_HUMAN	Homo sapiens TYRO3 protein tyrosine kinase (TYRO3), mRNA.	566	Protein kinase.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		TGAAGAGTTCCTCAGGGAAGC	0.498000														52			20		0	0	1	0	0
IRX1	79192	broad.mit.edu	37	5	3599623	3599623	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:3599623G>A	uc003jde.3	+	1	613	c.561G>A	c.(559-561)aaG>aaA	p.K187K		NM_024337	NP_077313	P78414	IRX1_HUMAN	Homo sapiens iroquois homeobox 1 (IRX1), mRNA.	187						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						GCCTCAAGAAGGAGAACAAGG	0.642000														43			36		0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193177001	193177001	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:193177001A>G	uc003ftd.3	-	13	1651	c.1543T>C	c.(1543-1545)Ttt>Ctt	p.F515L	ATP13A4_uc003fte.1_Missense_Mutation_p.F515L|ATP13A4_uc011bsr.1_5'UTR|ATP13A4_uc010hzi.3_Non-coding_Transcript|ATP13A4_uc003ftf.4_Missense_Mutation_p.F221L	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	515					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.F515L(2)		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)		CCTGAGGCAAAGCTGTGAACT	0.517000														39			12		0	0	1	0	0
HIPK1	204851	broad.mit.edu	37	1	114504973	114504973	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:114504973C>T	uc001eem.3	+	8	2177	c.2016C>T	c.(2014-2016)ttC>ttT	p.F672F	HIPK1_uc001eel.3_Silent_p.F672F|HIPK1_uc001een.3_Silent_p.F672F|HIPK1_uc001eeo.3_Silent_p.F298F|HIPK1_uc001eep.3_Silent_p.F278F|HIPK1_uc001eeq.3_5'Flank	NM_198268	NP_938010	Q86Z02	HIPK1_HUMAN	Homo sapiens homeodomain interacting protein kinase 1 (HIPK1), transcript variant 1, mRNA.	672					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATTCTGGATTCCCTGTGAGGA	0.438000														81			25		0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40050216	40050216	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:40050216G>A	uc002xka.1	-	30	5237	c.5059C>T	c.(5059-5061)Cag>Tag	p.Q1687*		NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	1687					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)				ATGACATCCTGAACTTTAGAA	0.418000														48			19		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149497433	149497433	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:149497433C>T	uc010lpk.3	+	48	7182	c.7182C>T	c.(7180-7182)ccC>ccT	p.P2394P		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	2397	LDL-receptor class A 9.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCCAGACGCCCTGTGAGGTGC	0.687000														26			6		0	0	1	0	0
MMP28	79148	broad.mit.edu	37	17	34106267	34106267	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:34106267G>A	uc002hjy.1	-	1	431	c.172C>T	c.(172-174)Cga>Tga	p.R58*	MMP28_uc002hjw.1_Non-coding_Transcript|MMP28_uc002hjz.1_Non-coding_Transcript|MMP28_uc002hka.3_Nonsense_Mutation_p.R58*	NM_024302	NP_077278	Q9H239	MMP28_HUMAN	Homo sapiens matrix metallopeptidase 28 (MMP28), transcript variant 1, mRNA.	58					proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|lung(7)|ovary(1)|skin(5)	16		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TCGCTGAATCGAGTGGAGGTG	0.542000														9			8		0	0	1	0	0
TAS2R1	50834	broad.mit.edu	37	5	9629378	9629378	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:9629378C>T	uc003jem.1	-	0	1086	c.767G>A	c.(766-768)aGg>aAg	p.R256K		NM_019599	NP_062545	Q9NYW7	TA2R1_HUMAN	Homo sapiens taste receptor, type 2, member 1 (TAS2R1), mRNA.	256					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						AAAGATGAACCTTCTGATGTG	0.388000														53			11		0	0	1	0	0
VASH1	22846	broad.mit.edu	37	14	77242566	77242566	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:77242566G>A	uc001xst.2	+	4	1792	c.862G>A	c.(862-864)Gat>Aat	p.D288N		NM_014909	NP_055724	Q7L8A9	VASH1_HUMAN	Homo sapiens vasohibin 1 (VASH1), mRNA.	288					cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation	endoplasmic reticulum|extracellular space				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3)	10			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		CCTGGGCCGCGATGACTTCCG	0.701000														16			3		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10401121	10401121	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:10401121A>G	uc002gmo.3	-	30	4389	c.4295T>C	c.(4294-4296)cTc>cCc	p.L1432P	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1432						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						ATCAATCATGAGGTCCTCAAC	0.468000														21			47		0	0	1	0	0
BC039356	0	broad.mit.edu	37	1	227618273	227618273	+	RNA	SNP	T	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:227618273T>A	uc001hqv.3	+	3		c.1508T>A								Homo sapiens cDNA clone IMAGE:5270051.																		CTGCGAGTACTCAACACCAGC	0.522000														29			18		0	0	1	0	0
USH1C	10083	broad.mit.edu	37	11	17548858	17548858	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:17548858C>T	uc001mnf.3	-	4	517	c.408G>A	c.(406-408)cgG>cgA	p.R136R	USH1C_uc001mne.3_Silent_p.R136R|USH1C_uc009yhb.3_Silent_p.R136R|USH1C_uc001mng.3_Non-coding_Transcript|USH1C_uc001mnd.3_Silent_p.R100R	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN	Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant 1, mRNA.	136	PDZ 1.				G2/M transition of mitotic cell cycle|equilibrioception|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding	p.R136Q(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						ATCCATTGATCCGGACGATCT	0.557000														35			15		0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73745120	73745120	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:73745120G>A	uc002jpg.3	+	26	3497	c.3310G>A	c.(3310-3312)Gac>Aac	p.D1104N	ITGB4_uc002jph.3_Missense_Mutation_p.D1104N|ITGB4_uc002jpi.4_Missense_Mutation_p.D1104N|ITGB4_uc002jpj.3_Missense_Mutation_p.D1104N	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	1104					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CATCATCAGGGACCCAGGTAG	0.617000														31			10		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2706605	2706605	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:2706605C>T	uc009zdu.1	+	21	3169	c.2856C>T	c.(2854-2856)atC>atT	p.I952I	CACNA1C_uc001qkc.2_Silent_p.I932I|CACNA1C_uc001qjz.2_Intron|CACNA1C_uc001qkd.2_Intron|CACNA1C_uc001qke.2_Silent_p.I932I|CACNA1C_uc001qkf.2_Silent_p.I932I|CACNA1C_uc009zdw.1_Intron|CACNA1C_uc001qkg.2_Intron|CACNA1C_uc001qkh.2_Intron|CACNA1C_uc001qkl.2_Silent_p.I952I|CACNA1C_uc001qkj.2_Intron|CACNA1C_uc001qkk.2_Intron|CACNA1C_uc001qkn.2_Silent_p.I932I|CACNA1C_uc001qkm.2_Intron|CACNA1C_uc001qko.2_Silent_p.I952I|CACNA1C_uc001qkp.2_Silent_p.I932I|CACNA1C_uc001qkq.2_Intron|CACNA1C_uc001qku.2_Silent_p.I932I|CACNA1C_uc001qkr.2_Silent_p.I932I|CACNA1C_uc001qks.2_Intron|CACNA1C_uc001qkt.2_Intron|CACNA1C_uc009zdv.1_Intron|CACNA1C_uc001qkb.2_Silent_p.I932I|CACNA1C_uc001qka.1_Silent_p.I467I|CACNA1C_uc001qki.1_Intron	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	952					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	p.P952P(1)		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)	TTTTTCAGATCCTAGGCAATG	0.443000														29			11		0	0	1	0	0
USP17L2	377630	broad.mit.edu	37	8	11996051	11996051	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:11996051C>T	uc003wvc.1	-	0	219	c.219G>A	c.(217-219)agG>agA	p.R73R	LOC100506990_uc011kxp.1_Intron|LOC100506990_uc011kxo.1_Intron	NM_201402	NP_958804	Q6R6M4	U17L2_HUMAN	Homo sapiens ubiquitin specific peptidase 17-like 2 (USP17L2), mRNA.	73					G2/M transition checkpoint|apoptosis|cell cycle|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						CAGCAGGTCTCCTGCTACTCA	0.572000														103			17		0	0	1	0	0
A4GALT	53947	broad.mit.edu	37	22	43089294	43089295	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:43089294_43089295CC>TT	uc003bdb.3	-	2	924_925	c.663_664GG>AA	c.(661-666)ctggcc>ctAAcc	p.A222T	A4GALT_uc021wqo.1_Missense_Mutation_p.A222T|A4GALT_uc021wqp.1_Missense_Mutation_p.A222T|A4GALT_uc010gzd.3_Missense_Mutation_p.A222T|A4GALT_uc021wqq.1_Missense_Mutation_p.A222T	NM_017436	NP_059132	Q9NPC4	A4GAT_HUMAN	Homo sapiens alpha 1,4-galactosyltransferase (A4GALT), mRNA.	222					glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity			NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						CGCTCGAAGGCCAGGAACGCGC	0.629000														36			15		0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481595	140481595	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:140481595C>T	uc003lio.3	+	0	1362	c.1362C>T	c.(1360-1362)atC>atT	p.I454I	BC016751_uc003lin.3_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	454					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCACCCAAATCTCCTACACCC	0.582000														139			32		0	0	1	0	0
UCN3	114131	broad.mit.edu	37	10	5415859	5415859	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:5415859T>C	uc001ihx.1	+	1	400	c.176T>C	c.(175-177)tTc>tCc	p.F59S		NM_053049	NP_444277	Q969E3	UCN3_HUMAN	Homo sapiens urocortin 3 (stresscopin) (UCN3), mRNA.	59						extracellular region	hormone activity			endometrium(1)|large_intestine(1)	2						AAGAGGAGCTTCCACTACCTG	0.597000														21			9		0	0	1	0	0
TBX10	347853	broad.mit.edu	37	11	67402307	67402307	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:67402307G>A	uc001omp.3	-	2	445	c.357C>T	c.(355-357)ccC>ccT	p.P119P		NM_005995	NP_005986	O75333	TBX10_HUMAN	Homo sapiens T-box 10 (TBX10), mRNA.	119					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						TGTCGTCCAGGGGGATGAAGT	0.627000														51			13		0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119951203	119951203	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:119951203G>A	uc010inb.3	+	3	1469	c.1273G>A	c.(1273-1275)Gaa>Aaa	p.E425K	SYNPO2_uc010ina.3_Missense_Mutation_p.E425K|SYNPO2_uc003icm.4_Missense_Mutation_p.E425K|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Missense_Mutation_p.E353K|SYNPO2_uc021xrd.1_5'Flank	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	425	Poly-Glu.					Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GGACGAGGAGGAAGAAGGTGA	0.507000														36			17		0	0	1	0	0
PARD3	56288	broad.mit.edu	37	10	34626240	34626240	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:34626240G>A	uc010qej.2	-	16	2862	c.2532C>T	c.(2530-2532)ttC>ttT	p.F844F	PARD3_uc010qep.2_Intron|PARD3_uc010qeq.2_Silent_p.F784F|PARD3_uc010qek.2_Silent_p.F841F|PARD3_uc010qel.2_Silent_p.F844F|PARD3_uc010qem.2_Silent_p.F828F|PARD3_uc010qen.2_Intron|PARD3_uc010qeo.2_Intron|PARD3_uc001ixo.2_Silent_p.F558F|PARD3_uc001ixr.2_Silent_p.F841F|PARD3_uc001ixq.2_Intron|PARD3_uc001ixp.2_Intron|PARD3_uc001ixt.1_Silent_p.F662F|PARD3_uc001ixu.2_Silent_p.F787F|PARD3_uc001ixs.1_Intron	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog (C. elegans) (PARD3), transcript variant 1, mRNA.	844	Interacts with PRKCZ (By similarity).				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			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)				GTGTTTTAACGAAATCCAATT	0.338000														21			3		0	0	1	0	0
ORC5	5001	broad.mit.edu	37	7	103824604	103824604	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:103824604G>A	uc003vcb.3	-	6	843	c.700C>T	c.(700-702)Cct>Tct	p.P234S	ORC5_uc011klp.2_Missense_Mutation_p.P102S|ORC5_uc003vcc.3_Missense_Mutation_p.P234S	NM_002553	NP_002544	O43913	ORC5_HUMAN	Homo sapiens origin recognition complex, subunit 5 (ORC5), transcript variant 1, mRNA.	234					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	cytoplasm|nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|identical protein binding			kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						CAATATTTAGGAAAATTAAGT	0.264000														6			3		0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7229776	7229776	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:7229776C>T	uc003mxb.3	+	9	1936	c.1444C>T	c.(1444-1446)Cct>Tct	p.P482S	RREB1_uc021yky.1_Missense_Mutation_p.P482S|RREB1_uc003mxc.3_Missense_Mutation_p.P482S|RREB1_uc010jnx.3_Missense_Mutation_p.P482S|RREB1_uc021ykz.1_Missense_Mutation_p.P482S|RREB1_uc021yla.1_Intron	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.	482	Pro-rich.				Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CTCGGCTCCCCCTCAGATCAG	0.617000														321			86		0	0	1	0	0
EXOC6	54536	broad.mit.edu	37	10	94712050	94712051	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:94712050_94712051CC>TT	uc010qnr.2	+	15	1628_1629	c.1485_1486CC>TT	c.(1483-1488)ttcccc>ttTTcc	p.P496S	EXOC6_uc001kie.3_Missense_Mutation_p.P475S|EXOC6_uc001kig.3_Missense_Mutation_p.P480S|EXOC6_uc009xub.3_Missense_Mutation_p.P479S|EXOC6_uc009xuc.3_Missense_Mutation_p.P377S|EXOC6_uc001kih.3_Non-coding_Transcript|EXOC6_uc001kii.3_Missense_Mutation_p.P54S	NM_001013848	NP_001013870	Q8TAG9	EXOC6_HUMAN	Homo sapiens exocyst complex component 6 (EXOC6), transcript variant 2, mRNA.	480					protein transport|vesicle docking involved in exocytosis	exocyst				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				CAAAGAAATTCCCCATGTCTCA	0.302000														38			5		0	0	1	0	0
C9orf71	169693	broad.mit.edu	37	9	71152295	71152295	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:71152295C>T	uc004agt.3	-	1	446	c.393G>A	c.(391-393)ctG>ctA	p.L131L	AK130904_uc004ags.1_Non-coding_Transcript	NM_153237	NP_694969	Q8N6L7	CI071_HUMAN	Homo sapiens chromosome 9 open reading frame 71 (C9orf71), mRNA.	131						integral to membrane				endometrium(1)|lung(2)|prostate(1)	4						CCTGGAATTCCAGGCCCGTCT	0.552000														24			17		0	0	1	0	0
CYP4F8	11283	broad.mit.edu	37	19	15728902	15728902	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:15728902C>T	uc002nbi.3	+	2	354	c.290C>T	c.(289-291)cCc>cTc	p.P97L	CYP4F8_uc010xoi.1_Missense_Mutation_p.P97L|CYP4F8_uc010xoj.2_Intron	NM_007253	NP_009184	P98187	CP4F8_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 8 (CYP4F8), mRNA.	97					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						CCCATCACTCCCATCATCAAC	0.587000														51			25		0	0	1	0	0
PEF1	553115	broad.mit.edu	37	1	32096337	32096337	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:32096337G>A	uc001bth.2	-	4	1105	c.732C>T	c.(730-732)atC>atT	p.I244I	HCRTR1_uc010ogl.2_Intron|PEF1_uc021okp.1_Silent_p.I174I|PEF1_uc021okq.1_Silent_p.I109I|PEF1_uc001bte.1_3'UTR	NM_012392	NP_036524	Q9UBV8	PEF1_HUMAN	Homo sapiens penta-EF-hand domain containing 1 (PEF1), transcript variant 1, mRNA.	244	EF-hand 4.|Required for interaction with PDCD6.				response to calcium ion	cytoplasm|membrane	calcium ion binding|protein heterodimerization activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)	7		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)|all_neural(195;0.186)		STAD - Stomach adenocarcinoma(196;0.0546)		TGCACACCTGGATGAAGCGGT	0.597000														24			17		0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94667336	94667336	+	Silent	SNP	T	C	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:94667336T>C	uc001dqj.4	-	11	1590	c.1221A>G	c.(1219-1221)aaA>aaG	p.K407K	ARHGAP29_uc009wdq.1_Non-coding_Transcript	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	407					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)		AAATTTCTCTTTTGGTATTTT	0.323000														27			6		0	0	1	0	0
RANBP17	64901	broad.mit.edu	37	5	170345741	170345741	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:170345741C>T	uc003mba.3	+	9	1121	c.979C>T	c.(979-981)Cat>Tat	p.H327Y	RANBP17_uc003max.2_Non-coding_Transcript|RANBP17_uc003may.2_Non-coding_Transcript|RANBP17_uc003maz.2_Non-coding_Transcript|RANBP17_uc010jjr.2_Non-coding_Transcript	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	Homo sapiens RAN binding protein 17 (RANBP17), mRNA.	327					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGGTAATTATCATGAATTTTG	0.333000			T	TRD@	ALL									24			11		0	0	1	0	0
COL25A1	84570	broad.mit.edu	37	4	109782128	109782128	+	Splice_Site	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:109782128C>T	uc021xqo.1	-	22	1254	c.1198_splice	c.e22-1	p.G400_splice	COL25A1_uc003hze.1_Splice_Site_p.G400_splice|COL25A1_uc021xqp.1_Splice_Site_p.G400_splice|COL25A1_uc003hzg.3_Splice_Site_p.G400_splice|COL25A1_uc003hzd.3_Splice_Site|COL25A1_uc003hzf.3_Splice_Site_p.G166_splice	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	Homo sapiens collagen, type XXV, alpha 1 (COL25A1), transcript variant 1, mRNA.	400	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)		CACGATCCCCCTTTTCCCGTT	0.433000														17			5		0	0	1	0	0
MYO1B	4430	broad.mit.edu	37	2	192273810	192273810	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:192273810C>T	uc010fsg.2	+	25	2927	c.2672C>T	c.(2671-2673)tCc>tTc	p.S891F	MYO1B_uc002usq.2_Missense_Mutation_p.S833F|MYO1B_uc002usr.2_Missense_Mutation_p.S891F|MYO1B_uc002usu.2_Missense_Mutation_p.S136F	NM_001130158	NP_001155291	O43795	MYO1B_HUMAN	Homo sapiens myosin IB (MYO1B), transcript variant 1, mRNA.	891						myosin complex	ATP binding|actin binding|calmodulin binding|motor activity	p.F890fs*47(1)		NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			AAGATGCCTTCCTTATCTCCA	0.363000														25			15		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106774313	106774313	+	RNA	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:106774313C>T	uc021ser.1	-	682		c.18532G>A								Parts of antibodies, mostly variable regions.																		TTCAATGAGGCTCCAGGCTTC	0.552000														9			11		0	0	1	0	0
ZNF777	27153	broad.mit.edu	37	7	149152511	149152511	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:149152511G>A	uc003wfv.3	-	1	766	c.603C>T	c.(601-603)gcC>gcT	p.A201A		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	Homo sapiens zinc finger protein 777 (ZNF777), mRNA.	201					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TCATGGCCTGGGCCTCCAGCT	0.602000														79			61		0	0	1	0	0
KCNN3	3782	broad.mit.edu	37	1	154841609	154841609	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:154841609C>T	uc021pah.1	-	0	1146	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K	KCNN3_uc001ffp.3_Missense_Mutation_p.E278K|KCNN3_uc009wox.1_Missense_Mutation_p.E278K	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.	283						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)			TTTCTCTTTTCAAACAGGGCC	0.493000														64			24		0	0	1	0	0
TDRD1	56165	broad.mit.edu	37	10	115973216	115973216	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:115973216C>T	uc001lbg.1	+	14	2096	c.1943C>T	c.(1942-1944)tCc>tTc	p.S648F	TDRD1_uc001lbf.3_Missense_Mutation_p.S582F|TDRD1_uc001lbh.1_Missense_Mutation_p.S639F|TDRD1_uc001lbi.1_Missense_Mutation_p.S639F|TDRD1_uc010qsc.2_Missense_Mutation_p.S252F|TDRD1_uc001lbj.3_Missense_Mutation_p.S357F	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	Homo sapiens tudor domain containing 1 (TDRD1), mRNA.	648					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)		GAAAACAGTTCCCTGGTGGAG	0.418000														34			32		0	0	1	0	0
APOH	350	broad.mit.edu	37	17	64222231	64222231	+	Missense_Mutation	SNP	G	A	A	rs55645281		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:64222231G>A	uc002jfn.4	-	2	312	c.253C>T	c.(253-255)Cct>Tct	p.P85S		NM_000042	NP_000033	P02749	APOH_HUMAN	Homo sapiens apolipoprotein H (beta-2-glycoprotein I) (APOH), mRNA.	85	Sushi 2.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			CCAGCAAAAGGACATACTCTG	0.318000														54			10		0	0	1	0	0
GRAP2	9402	broad.mit.edu	37	22	40364148	40364148	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:40364148G>A	uc003ayh.2	+	5	825	c.562G>A	c.(562-564)Gat>Aat	p.D188N	GRAP2_uc011aom.2_Missense_Mutation_p.D162N|GRAP2_uc011aon.2_Missense_Mutation_p.D122N|GRAP2_uc010gya.2_Missense_Mutation_p.D188N|GRAP2_uc011aoo.2_Missense_Mutation_p.D116N|GRAP2_uc011aop.2_Missense_Mutation_p.D148N|GRAP2_uc011aoq.2_Missense_Mutation_p.D75N|GRAP2_uc003ayj.2_Missense_Mutation_p.D188N	NM_004810	NP_004801	O75791	GRAP2_HUMAN	Homo sapiens GRB2-related adaptor protein 2 (GRAP2), mRNA.	188					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						GAAGCTGTCGGATCACCCCCC	0.672000														26			8		0	0	1	0	0
BCAS3	54828	broad.mit.edu	37	17	59445710	59445710	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:59445710C>T	uc002iyv.4	+	23	2602	c.2493C>T	c.(2491-2493)acC>acT	p.T831T	BCAS3_uc002iyu.4_Silent_p.T816T|BCAS3_uc002iyw.4_Silent_p.T812T|BCAS3_uc002iyy.4_Silent_p.T587T|BCAS3_uc002iyz.4_Silent_p.T385T|BCAS3_uc002iza.4_Silent_p.T370T|BCAS3_uc002izb.4_Non-coding_Transcript|BCAS3_uc002izc.4_Non-coding_Transcript	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	Homo sapiens breast carcinoma amplified sequence 3 (BCAS3), transcript variant 1, mRNA.	831						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			GGAGCGTGACCCTGCTGGAGG	0.642000														152			21		0	0	1	0	0
OLFML1	283298	broad.mit.edu	37	11	7530854	7530854	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:7530854G>A	uc001mfi.3	+	2	1151	c.644G>A	c.(643-645)gGa>gAa	p.G215E	OLFML1_uc010raz.2_Missense_Mutation_p.G79E|OLFML1_uc010rba.2_Missense_Mutation_p.G215E	NM_198474	NP_940876	Q6UWY5	OLFL1_HUMAN	Homo sapiens olfactomedin-like 1 (OLFML1), mRNA.	215	Olfactomedin-like.					extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		TCCTGGCAGGGAACAGGCCAA	0.418000														29			29		0	0	1	0	0
YEATS2	55689	broad.mit.edu	37	3	183493851	183493851	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:183493851C>T	uc003fly.2	+	17	2712	c.2517C>T	c.(2515-2517)ggC>ggT	p.G839G	YEATS2_uc003flz.3_5'UTR	NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	Homo sapiens YEATS domain containing 2 (YEATS2), mRNA.	839	Gly-rich.				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GTACTGCTGGCCCTGGAGGGA	0.537000														27			10		0	0	1	0	0
MST1P9	11223	broad.mit.edu	37	1	17085865	17085865	+	Missense_Mutation	SNP	A	G	G	rs1057378	by1000genomes	TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:17085865A>G	uc010ock.2	-	7	956	c.956T>C	c.(955-957)cTc>cCc	p.L319P	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_5'UTR					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.									p.L319P(2)|p.L309P(2)		breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						TGAGCCGTCGAGGTTCCAGCA	0.667000														29			4		0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32187927	32187927	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:32187927C>T	uc003obb.3	-	6	1433	c.1294G>A	c.(1294-1296)Gac>Aac	p.D432N	NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc003obc.3_Missense_Mutation_p.D432N	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	432	EGF-like 11; calcium-binding (Potential).				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			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						TCGTCCAGGTCCTGGTGGCAG	0.612000														41			27		0	0	1	0	0
GALNT8	26290	broad.mit.edu	37	12	4870250	4870250	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:4870250G>A	uc001qne.1	+	6	1392	c.1300G>A	c.(1300-1302)Gaa>Aaa	p.E434K		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) (GALNT8), mRNA.	434						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						GCGAGTGGCCGAAATCTGGAT	0.527000														42			15		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21427614	21427614	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr18:21427614G>A	uc002kuq.3	+	31	4204	c.4118G>A	c.(4117-4119)cGg>cAg	p.R1373Q	LAMA3_uc002kur.3_Missense_Mutation_p.R1373Q	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	1373	Domain III B.|Laminin EGF-like 11.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAGTGTGACCGGGACAGCGGG	0.622000														12			8		0	0	1	0	0
KRTAP5-3	387266	broad.mit.edu	37	11	1629276	1629276	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:1629276G>A	uc001ltw.1	-	0	418	c.340C>T	c.(340-342)Cgt>Tgt	p.R114C	MOB2_uc001ltq.2_Intron	NM_001012708	NP_001012726	Q6L8H2	KRA53_HUMAN	Homo sapiens keratin associated protein 5-3 (KRTAP5-3), mRNA.	114	11 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		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;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		GAGCCCCCACGAAATCCACAG	0.652000														84			65		0	0	1	0	0
CATSPER4	378807	broad.mit.edu	37	1	26517248	26517248	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:26517248C>T	uc010oez.2	+	0	130	c.130C>T	c.(130-132)Ccc>Tcc	p.P44S	CATSPER4_uc010oey.1_5'UTR|CATSPER4_uc009vsf.3_Non-coding_Transcript	NM_198137	NP_937770	Q7RTX7	CTSR4_HUMAN	Homo sapiens cation channel, sperm associated 4 (CATSPER4), mRNA.	44					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		CCGCCCCTCTCCCCTGCAGAG	0.617000														21			10		0	0	1	0	0
KIAA1199	57214	broad.mit.edu	37	15	81229049	81229049	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:81229049G>A	uc002bfw.1	+	22	3304	c.3044G>A	c.(3043-3045)cGa>cAa	p.R1015Q	KIAA1199_uc010unn.1_Missense_Mutation_p.R1015Q	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	Homo sapiens KIAA1199 (KIAA1199), mRNA.	1015										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						AGTAACCTGCGAATGAAGATC	0.478000														104			29		0	0	1	0	0
PTGS1	5742	broad.mit.edu	37	9	125148982	125148982	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:125148982G>A	uc004bmg.1	+	8	1402	c.1267G>A	c.(1267-1269)Gat>Aat	p.D423N	PTGS1_uc011lys.1_Intron|PTGS1_uc010mwb.1_Intron|PTGS1_uc004bmf.1_Intron|PTGS1_uc004bmh.1_Missense_Mutation_p.D314N|PTGS1_uc011lyt.1_Missense_Mutation_p.D314N	NM_000962	NP_000953	P23219	PGH1_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) (PTGS1), transcript variant 1, mRNA.	423					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)	GGCCCTGGTGGATGCCTTCTC	0.592000														46			7		0	0	1	0	0
TTLL5	23093	broad.mit.edu	37	14	76249582	76249582	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:76249582C>T	uc010ask.2	+	26	3012	c.2737C>T	c.(2737-2739)Cat>Tat	p.H913Y	TTLL5_uc001xrx.3_Missense_Mutation_p.H899Y|TTLL5_uc001xrz.3_Missense_Mutation_p.H474Y|TTLL5_uc001xsa.3_5'UTR|TTLL5_uc001xry.1_Non-coding_Transcript	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 5 (TTLL5), mRNA.	899					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		TCCCAACACCCATTTGTCATC	0.443000														71			19		0	0	1	0	0
IGSF22	283284	broad.mit.edu	37	11	18741636	18741636	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:18741636C>T	uc009yht.2	-	5	683	c.493G>A	c.(493-495)Gac>Aac	p.D165N	IGSF22_uc001mpa.2_Non-coding_Transcript	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	Homo sapiens immunoglobulin superfamily, member 22 (IGSF22), mRNA.	165	Lys-rich.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TTTTTGAAGTCCATTTTCTCT	0.517000														37			9		0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62542648	62542648	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:62542648C>T	uc010ihh.3	+	2	547	c.374C>T	c.(373-375)cCt>cTt	p.P125L	LPHN3_uc003hcq.4_Missense_Mutation_p.P125L|LPHN3_uc010ihg.1_Missense_Mutation_p.P193L	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	Homo sapiens latrophilin 3 (LPHN3), mRNA.	125					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GAATGTGTCCCTTACAGTATG	0.383000														99			25		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9089977	9089977	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:9089977C>T	uc002mkp.3	-	0	2042	c.1838G>A	c.(1837-1839)gGa>gAa	p.G613E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	613	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						GCTGCTGCCTCCTGTCATTGA	0.542000														24			14		0	0	1	0	0
MAPK6	5597	broad.mit.edu	37	15	52356617	52356617	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:52356617C>T	uc002abp.3	+	5	2380	c.1586C>T	c.(1585-1587)tCc>tTc	p.S529F		NM_002748	NP_002739	Q16659	MK06_HUMAN	Homo sapiens mitogen-activated protein kinase 6 (MAPK6), mRNA.	529					cell cycle		ATP binding|MAP kinase activity			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		GATTTTGATTCCTTTATTGCA	0.403000														23			5		0	0	1	0	0
CLSTN3	9746	broad.mit.edu	37	12	7285598	7285598	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:7285598C>T	uc001qss.3	+	0	617	c.79C>T	c.(79-81)Cct>Tct	p.P27S	CLSTN3_uc001qsr.3_Intron	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	Homo sapiens calsyntenin 3 (CLSTN3), mRNA.	0					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						TGCTTCCTCTCCTCTCCCTGG	0.567000														10			14		0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163360988	163360988	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:163360988C>T	uc002uch.2	-	5	1322	c.1093G>A	c.(1093-1095)Gat>Aat	p.D365N	KCNH7_uc002uci.3_Missense_Mutation_p.D358N	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	365					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TGTGTTCGATCTTTAACCTTG	0.373000														66			26		0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60887333	60887333	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:60887333G>A	uc002ycq.3	-	68	9467	c.9400C>T	c.(9400-9402)Cgc>Tgc	p.R3134C	LAMA5_uc021wfw.1_Missense_Mutation_p.R3134C	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	3134	Laminin G-like 3.				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)	AGCGCCAGGCGAAGGAAGCCG	0.682000														6			9		0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180050984	180050984	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:180050984G>A	uc003mlz.4	-	10	1578	c.1499C>T	c.(1498-1500)cCc>cTc	p.P500L	FLT4_uc003mma.4_Missense_Mutation_p.P500L|FLT4_uc003mmb.1_Missense_Mutation_p.P33L|FLT4_uc011dgy.2_Missense_Mutation_p.P500L	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	500	Ig-like C2-type 5.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	p.P500P(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GCTCTCGATGGGGTTCACGGC	0.637000														51			15		0	0	1	0	0
KDM5A	5927	broad.mit.edu	37	12	432368	432368	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:432368G>A	uc001qif.1	-	15	2518	c.2155C>T	c.(2155-2157)Cgc>Tgc	p.R719C	KDM5A_uc010sdn.1_Missense_Mutation_p.R678C	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	Homo sapiens lysine (K)-specific demethylase 5A (KDM5A), mRNA.	719					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						AATGGGTAGCGATATCTACaa	0.318000			T	NUP98	AML									7			8		0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17697867	17697867	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:17697867C>T	uc002grm.3	+	2	2074	c.1605C>T	c.(1603-1605)gcC>gcT	p.A535A	RAI1_uc002grn.1_Silent_p.A535A	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	Homo sapiens retinoic acid induced 1 (RAI1), mRNA.	535						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GCAACCAGGCCCGTGGCAGCC	0.642000														12			15		0	0	1	0	0
TMEM154	201799	broad.mit.edu	37	4	153573855	153573855	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:153573855G>T	uc003imw.2	-	1	521	c.289C>A	c.(289-291)Ctt>Att	p.L97I		NM_152680	NP_689893	Q6P9G4	TM154_HUMAN	Homo sapiens transmembrane protein 154 (TMEM154), mRNA.	97						integral to membrane				kidney(2)|large_intestine(1)	3	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TATGTTGCAAGGAATACCACG	0.318000														29			9		0.000274275	0.000275406	1	1	0
CTAGE1	64693	broad.mit.edu	37	18	19997356	19997356	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr18:19997356G>A	uc002ktv.1	-	0	523	c.419C>T	c.(418-420)tCc>tTc	p.S140F		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.	140						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)					TATCCTTTTGGAAATATCCGC	0.358000														58			24		0	0	1	0	0
CCR1	1230	broad.mit.edu	37	3	46245202	46245202	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:46245202C>T	uc003cph.1	-	1	674	c.603G>A	c.(601-603)ctG>ctA	p.L201L	CCR3_uc003cpg.2_Intron|CCR1_uc021wwy.1_Silent_p.L201L	NM_001295	NP_001286	P32246	CCR1_HUMAN	Homo sapiens chemokine (C-C motif) receptor 1 (CCR1), mRNA.	201					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)		GGTTCAGTTTCAGAGCCTGAA	0.448000														48			23		0	0	1	0	0
ASB15	142685	broad.mit.edu	37	7	123267166	123267166	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:123267166G>A	uc003vku.1	+	8	992	c.700G>A	c.(700-702)Ggt>Agt	p.G234S	ASB15_uc003vkv.1_Missense_Mutation_p.G234S|ASB15_uc003vkw.1_Missense_Mutation_p.G234S	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 15 (ASB15), mRNA.	234					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						ACTGCCAGGTGGTGATGTGCT	0.517000														49			38		0	0	1	0	0
EME1	146956	broad.mit.edu	37	17	48453106	48453106	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:48453106G>T	uc002iqs.2	+	1	619	c.537G>T	c.(535-537)caG>caT	p.Q179H	MRPL27_uc002iqq.3_5'Flank|MRPL27_uc002iqr.2_5'Flank|EME1_uc010dbp.2_Missense_Mutation_p.Q179H	NM_152463	NP_689676	Q96AY2	EME1_HUMAN	Homo sapiens essential meiotic endonuclease 1 homolog 1 (S. pombe) (EME1), transcript variant 2, mRNA.	179					DNA recombination|DNA repair	nucleolus	DNA binding|endonuclease activity|metal ion binding|protein binding			endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	19	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			GCCCTGGCCAGAGCAGCAGCT	0.532000								Direct reversal of damage;Homologous recombination						67			20		1.01871e-10	1.03056e-10	1	1	0
BSN	8927	broad.mit.edu	37	3	49662653	49662654	+	Missense_Mutation	DNP	CC	TT	TT	rs150855300	byFrequency	TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:49662653_49662654CC>TT	uc003cxe.4	+	1	584_585	c.470_471CC>TT	c.(469-471)tcc>tTT	p.S157F		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	157					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)		TCACCCTACTCCGTCCCTCAGA	0.634000														45			13		0	0	1	0	0
TEX2	55852	broad.mit.edu	37	17	62265765	62265765	+	Silent	SNP	A	C	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:62265765A>C	uc002jed.3	-	4	2359	c.2208T>G	c.(2206-2208)ccT>ccG	p.P736P	TEX2_uc002jec.3_Silent_p.P729P|TEX2_uc002jee.3_Silent_p.P729P	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	Homo sapiens testis expressed 2 (TEX2), mRNA.	729					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		TGCTGTGTGCAGGCAAAAGCC	0.537000														66			20		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135469957	135469957	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:135469957C>T	uc004ezu.1	+	15	8126	c.7835C>T	c.(7834-7836)tCa>tTa	p.S2612L	GPR112_uc010nsb.1_Missense_Mutation_p.S2407L	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	2612					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)					TTGCCTAAATCACTGACGGAG	0.388000														58			28		0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39226565	39226565	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:39226565G>A	uc003cjk.2	-	1	4601	c.4372C>T	c.(4372-4374)Cct>Tct	p.P1458S	XIRP1_uc003cji.3_3'UTR|XIRP1_uc003cjj.3_Missense_Mutation_p.P141S|XIRP1_uc021wvz.1_Missense_Mutation_p.P1458S	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	1458							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)		GGGCTCTCAGGGGCCCCTTGG	0.632000														72			62		0	0	1	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45458949	45458949	+	RNA	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:45458949C>T	uc001rol.3	-	0		c.246G>A								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		TTCACTCAGTCTCTGCTTTTA	0.438000														21			5		0	0	1	0	0
LGALS9B	284194	broad.mit.edu	37	17	20363728	20363728	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:20363728C>T	uc002gxa.1	-	1	133	c.68G>A	c.(67-69)gGg>gAg	p.G23E	LGALS9B_uc002gwz.1_Missense_Mutation_p.G23E|LGALS9B_uc010vzh.1_Intron	NM_001042685	NP_001036150	Q3B8N2	LEG9B_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 9B (LGALS9B), mRNA.	23	Galectin 1.						sugar binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						CTGGAGACCCCCTTGGATAGT	0.577000														32			39		0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16893723	16893723	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:16893723G>A	uc009vos.1	-	24	3678	c.2790C>T	c.(2788-2790)gcC>gcT	p.A930A	NBPF1_uc009vot.1_Silent_p.A388A|NBPF1_uc001ayz.1_Silent_p.A388A|NBPF1_uc010oce.1_Silent_p.A659A	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	930	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)		ATATGTAAAAGGCACTTCTGT	0.463000														815			24		0	0	1	0	0
ADNP2	22850	broad.mit.edu	37	18	77894282	77894282	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr18:77894282C>T	uc002lnw.3	+	3	1441	c.986C>T	c.(985-987)tCc>tTc	p.S329F		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	Homo sapiens ADNP homeobox 2 (ADNP2), mRNA.	329	Pro-rich.				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		GCTGGCCAATCCCACATGACT	0.637000														41			21		0	0	1	0	0
EOMES	8320	broad.mit.edu	37	3	27758942	27758942	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:27758942G>A	uc003cdy.3	-	5	1737	c.1737C>T	c.(1735-1737)gcC>gcT	p.A579A	EOMES_uc003cdx.3_Silent_p.A560A|EOMES_uc010hfn.2_3'UTR|EOMES_uc011axc.1_Silent_p.A284A	NM_005442	NP_005433	O95936	EOMES_HUMAN	Homo sapiens eomesodermin (EOMES), mRNA.	560	Required for transcription activation (By similarity).				CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						AATACCCCAGGGCATGGGATG	0.502000														43			14		0	0	1	0	0
RB1	5925	broad.mit.edu	37	13	49039343	49039343	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr13:49039343C>T	uc001vcb.3	+	22	2494	c.2328C>T	c.(2326-2328)ccC>ccT	p.P776P		NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	776	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				G1 phase of mitotic cell cycle|Ras protein signal transduction|S phase of mitotic cell cycle|androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|sister chromatid biorientation	PML body|Rb-E2F complex|SWI/SNF complex|chromatin	DNA binding|androgen receptor binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGCTCTAGCCCCCTACCTTGT	0.403000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)				63			21		0	0	1	0	0
KLF3	51274	broad.mit.edu	37	4	38691476	38691476	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:38691476C>T	uc003gth.4	+	3	1003	c.671C>T	c.(670-672)tCc>tTc	p.S224F	KLF3_uc003gtg.2_Missense_Mutation_p.S224F	NM_016531	NP_057615	P57682	KLF3_HUMAN	Homo sapiens Kruppel-like factor 3 (basic) (KLF3), mRNA.	224	Pro-rich.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						AACTCAGTGTCCCCCCCGCAA	0.423000														65			56		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9083224	9083224	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:9083224G>A	uc002mkp.3	-	0	8795	c.8591C>T	c.(8590-8592)tCt>tTt	p.S2864F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2864	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						TGAGGAGGCAGAGACAGGTGT	0.527000														12			4		0	0	1	0	0
IVL	3713	broad.mit.edu	37	1	152883933	152883933	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:152883933G>A	uc021ozl.1	+	0	1660	c.1660G>A	c.(1660-1662)Gac>Aac	p.D554N	IVL_uc001fau.3_Missense_Mutation_p.D554N	NM_005547	NP_005538	P07476	INVO_HUMAN	Homo sapiens involucrin (IVL), mRNA.	554					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)			CCAGGTCCAAGACATTCAACC	0.572000														33			32		0	0	1	0	0
RFX6	222546	broad.mit.edu	37	6	117252545	117252545	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:117252545G>A	uc003pxm.3	+	18	2726	c.2663G>A	c.(2662-2664)gGa>gAa	p.G888E		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	888					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TGTATGTATGGAACTTCCAAC	0.408000														34			18		0	0	1	0	0
HTRA1	5654	broad.mit.edu	37	10	124273726	124273726	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:124273726G>A	uc001lgj.2	+	8	1422	c.1294G>A	c.(1294-1296)Gac>Aac	p.D432N		NM_002775	NP_002766	Q92743	HTRA1_HUMAN	Homo sapiens HtrA serine peptidase 1 (HTRA1), mRNA.	432	PDZ.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				CAAGGAAAACGACGTCATAAT	0.502000														191			46		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70955013	70955013	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:70955013C>T	uc002ezr.3	-	45	7414	c.7263G>A	c.(7261-7263)agG>agA	p.R2421R		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	2422										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)				CGCCCATGTTCCTTTTCTTCT	0.483000														38			17		0	0	1	0	0
STEAP4	79689	broad.mit.edu	37	7	87913481	87913481	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:87913481C>T	uc022agz.1	-	2	327	c.104G>A	c.(103-105)gGa>gAa	p.G35E	STEAP4_uc003ujs.3_Missense_Mutation_p.G35E|STEAP4_uc010lek.3_Missense_Mutation_p.G35E	NM_001205315	NP_001192244	Q687X5	STEA4_HUMAN	Homo sapiens STEAP family member 4 (STEAP4), transcript variant 2, mRNA.	35					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					CATTTTCAATCCCAGTGATCT	0.413000														55			11		0	0	1	0	0
HKDC1	80201	broad.mit.edu	37	10	71010396	71010396	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:71010396G>A	uc001jpf.4	+	11	1957	c.1824G>A	c.(1822-1824)atG>atA	p.M608I	HKDC1_uc010qje.2_Missense_Mutation_p.M471I	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	Homo sapiens hexokinase domain containing 1 (HKDC1), mRNA.	608	Glucose-binding (Potential).				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						GCAGGCAGATGAGCATTGACA	0.567000														77			20		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141755813	141755813	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:141755813C>T	uc003vwy.3	+	28	3551	c.3497C>T	c.(3496-3498)tCc>tTc	p.S1166F		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1166	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.S1166F(2)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AAGAAGAATTCCTATGGTGTC	0.498000														12			4		0	0	1	0	0
LRRN2	10446	broad.mit.edu	37	1	204588349	204588349	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:204588349C>T	uc021phy.1	-	0	772	c.772G>A	c.(772-774)Gaa>Aaa	p.E258K	MDM4_uc001hbd.2_Intron|LRRN2_uc001hbe.1_Missense_Mutation_p.E258K|LRRN2_uc001hbf.1_Missense_Mutation_p.E258K|LRRN2_uc009xbf.1_Missense_Mutation_p.E258K|MDM4_uc001hbc.3_Intron	NM_201630	NP_963924	O75325	LRRN2_HUMAN	Homo sapiens leucine rich repeat neuronal 2 (LRRN2), transcript variant 2, mRNA.	258					cell adhesion	integral to membrane	receptor activity	p.L257L(3)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GGCACCTGTTCCAGTGCCCGC	0.637000														51			24		0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19449389	19449390	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:19449389_19449390GG>AA	uc001bbi.3	-	65	9757_9758	c.9753_9754CC>TT	c.(9751-9756)ctccgg>ctTTgg	p.R3252W	UBR4_uc001bbk.1_Missense_Mutation_p.R899W	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	3252					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ACACTTGCCCGGAGGAATATCC	0.589000														46			27		0	0	1	0	0
WRAP73	49856	broad.mit.edu	37	1	3551793	3551793	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:3551793G>A	uc001ako.3	-	6	777	c.669C>T	c.(667-669)tcC>tcT	p.S223S	WRAP73_uc001akn.3_Silent_p.S223S|WRAP73_uc010nzi.2_3'UTR	NM_017818	NP_060288	Q9P2S5	WRP73_HUMAN	Homo sapiens WD repeat containing, antisense to TP73 (WRAP73), mRNA.	223						centrosome	protein binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						TGATGCCCAGGGACCACTCGT	0.517000														47			10		0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2147900	2147900	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:2147900G>A	uc002cos.1	-	30	10345	c.10136C>T	c.(10135-10137)tCc>tTc	p.S3379F	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Missense_Mutation_p.S3379F|PKD1_uc010bse.1_Non-coding_Transcript	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	3379					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CGTGAGGAAGGAGCTGTCCAG	0.682000														15			9		0	0	1	0	0
SLC9C1	285335	broad.mit.edu	37	3	111927084	111927084	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:111927084C>T	uc003dyu.3	-	15	2149	c.1927G>A	c.(1927-1929)Gaa>Aaa	p.E643K	SLC9C1_uc011bhu.2_Intron|SLC9C1_uc010hqc.3_Missense_Mutation_p.E595K	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.	643	Ion transport-like.				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										TGTTTTAATTCGCTGTGGTAG	0.303000														57			49		0	0	1	0	0
TAGLN2	8407	broad.mit.edu	37	1	159888595	159888595	+	Missense_Mutation	SNP	G	A	A	rs11556957		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:159888595G>A	uc001fun.1	-	4	668	c.595C>T	c.(595-597)Ctc>Ttc	p.L199F		NM_003564	NP_003555	P37802	TAGL2_HUMAN	Homo sapiens transgelin 2 (TAGLN2), mRNA.	199					muscle organ development	nuclear membrane|plasma membrane	protein binding			endometrium(1)|large_intestine(2)|lung(6)	9	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGGGATCAGAGGATCTGGCGT	0.562000														81			36		0	0	1	0	0
CADM3	57863	broad.mit.edu	37	1	159163685	159163685	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:159163685T>A	uc001ftl.2	+	4	725	c.546T>A	c.(544-546)gaT>gaA	p.D182E	CADM3_uc009wsy.1_Missense_Mutation_p.D182E|CADM3_uc001ftk.2_Missense_Mutation_p.D216E	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	Homo sapiens cell adhesion molecule 3 (CADM3), transcript variant 2, mRNA.	182	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			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)					TACAGGAAGATCCCAATGGTA	0.493000														22			16		0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182394344	182394344	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:182394344C>T	uc002unu.3	+	22	3270	c.2507C>T	c.(2506-2508)aCt>aTt	p.T836I	ITGA4_uc002unv.3_Missense_Mutation_p.T81I	NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	836					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	AGCCCCCAAACTGATAAGCTG	0.328000														25			14		0	0	1	0	0
ITFG3	83986	broad.mit.edu	37	16	313370	313370	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:313370C>T	uc002cgf.3	+	8	1276	c.1081C>T	c.(1081-1083)Cgc>Tgc	p.R361C	LUC7L_uc021szo.1_Intron|ITFG3_uc010bqr.2_Non-coding_Transcript|ITFG3_uc002cgg.2_Missense_Mutation_p.R361C|ITFG3_uc010uud.1_Non-coding_Transcript|ITFG3_uc002cgh.3_Missense_Mutation_p.R361C	NM_032039	NP_114428	Q9H0X4	ITFG3_HUMAN	Homo sapiens integrin alpha FG-GAP repeat containing 3 (ITFG3), mRNA.	361						integral to membrane				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				GCTGACGCCTCGCTGGACACC	0.652000														51			10		0	0	1	0	0
SGSM1	129049	broad.mit.edu	37	22	25243716	25243716	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:25243716G>A	uc003abg.2	+	3	412	c.255G>A	c.(253-255)gaG>gaA	p.E85E	SGSM1_uc010guu.1_Silent_p.E85E|SGSM1_uc003abh.2_Silent_p.E85E|SGSM1_uc003abj.2_Silent_p.E85E|SGSM1_uc003abi.1_Silent_p.E60E|SGSM1_uc003abf.2_Silent_p.E85E	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	85	RUN.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CGCCGGCTGAGGATCTGAGCC	0.612000														23			7		0	0	1	0	0
FOPNL	123811	broad.mit.edu	37	16	15967478	15967478	+	Silent	SNP	A	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:15967478A>T	uc002dec.1	-	3	323	c.318T>A	c.(316-318)ctT>ctA	p.L106L	FOPNL_uc002ded.1_Intron	NM_144600	NP_653201	Q96NB1	FOPNL_HUMAN	Homo sapiens FGFR1OP N-terminal like (FOPNL), mRNA.	106					cilium assembly|microtubule anchoring	centriolar satellite|microtubule basal body|motile cilium	identical protein binding			breast(1)|large_intestine(1)|lung(5)|stomach(4)	11						TCCCATATAAAAGAGGTCTAT	0.378000														14			24		0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42065859	42065860	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:42065859_42065860GG>AT	uc011kbh.2	-	7	1271_1272	c.1180_1181CC>AT	c.(1180-1182)cca>ATa	p.P394I	GLI3_uc011kbg.2_Missense_Mutation_p.P335I	NM_000168	NP_000159	P10071	GLI3_HUMAN	Homo sapiens GLI family zinc finger 3 (GLI3), mRNA.	394					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						AGGGATCCCTGGAATAGGCCTC	0.589000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly					15			3		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13923469	13923469	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:13923469C>T	uc003jfd.2	-	3	400	c.358G>A	c.(358-360)Gat>Aat	p.D120N	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	120	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.D120N(2)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGAGCCACATCGTTTCCCTCG	0.458000									Kartagener syndrome					155			37		0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179564869	179564869	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:179564869G>A	uc010pnp.2	+	3	1265	c.747G>A	c.(745-747)ccG>ccA	p.P249P	TDRD5_uc021pfm.1_Silent_p.P249P|TDRD5_uc001gnf.2_Silent_p.P249P|TDRD5_uc021pfn.1_Silent_p.P249P	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	249					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TGGAACCACCGAAGCAAATAA	0.398000														60			29		0	0	1	0	0
C12orf56	115749	broad.mit.edu	37	12	64679749	64679749	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:64679749C>T	uc021qzu.1	-	6	1205	c.1205G>A	c.(1204-1206)aGg>aAg	p.R402K	BC042855_uc001srx.3_Intron|C12orf56_uc001ssa.4_Missense_Mutation_p.R242K|C12orf56_uc001srz.3_5'UTR|C12orf56_uc001sry.3_5'UTR	NM_001170633	NP_001164104	Q8IXR9	CL056_HUMAN	Homo sapiens chromosome 12 open reading frame 56 (C12orf56), transcript variant 1, mRNA.	405										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		CTCATCAACCCTTTGGCTTTG	0.358000														12			5		0	0	1	0	0
NODAL	4838	broad.mit.edu	37	10	72195290	72195291	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:72195290_72195291CC>TT	uc001jrc.2	-	1	684_685	c.642_643GG>AA	c.(640-645)tgggaa>tgAAaa	p.214_215WE>*K		NM_018055	NP_060525	Q96S42	NODAL_HUMAN	Homo sapiens nodal homolog (mouse) (NODAL), mRNA.	214					growth	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	15						CTCTCGGCTTCCCACAGCAAGG	0.649000														33			12		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11725359	11725359	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:11725359C>T	uc002gne.3	+	45	8898	c.8830C>T	c.(8830-8832)Cgg>Tgg	p.R2944W	DNAH9_uc010coo.3_Missense_Mutation_p.R2238W	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2944	AAA 4 (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)		CTTTATAGATCGGATCCGGCG	0.463000														17			17		0	0	1	0	0
ASUN	55726	broad.mit.edu	37	12	27069111	27069111	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:27069111G>A	uc001rhk.4	-	10	1609	c.1072C>T	c.(1072-1074)Cgt>Tgt	p.R358C	ASUN_uc001rhj.4_5'UTR|ASUN_uc010sjk.2_Missense_Mutation_p.R257C	NM_018164	NP_060634	Q9NVM9	M89BB_HUMAN	Homo sapiens asunder, spermatogenesis regulator homolog (Drosphila) (ASUN), mRNA.	358					cell division|mitosis|regulation of mitotic cell cycle		protein binding										AAAACAGAACGACCTGTCAAA	0.343000														16			4		0	0	1	0	0
TAZ	6901	broad.mit.edu	37	X	153648589	153648589	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:153648589C>T	uc010nuy.3	+	7	697	c.697C>T	c.(697-699)Ccc>Tcc	p.P233S	TAZ_uc004fkx.3_Missense_Mutation_p.P229S|TAZ_uc004fky.3_Missense_Mutation_p.P215S|TAZ_uc004fkz.3_Non-coding_Transcript|TAZ_uc004fla.3_Missense_Mutation_p.P199S|TAZ_uc004flb.3_Missense_Mutation_p.P185S|TAZ_uc004flc.4_Missense_Mutation_p.P199S	NM_181312	NP_851829	Q16635	TAZ_HUMAN	Homo sapiens tafazzin (TAZ), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	229					cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity			lung(1)	1	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)					GCCCTACTTCCCCCGCTTTGG	0.622000														115			123		0	0	1	0	0
LRFN3	79414	broad.mit.edu	37	19	36430377	36430377	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:36430377C>T	uc002oco.3	+	1	502	c.50C>T	c.(49-51)tCa>tTa	p.S17L		NM_024509	NP_078785	Q9BTN0	LRFN3_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 3 (LRFN3), mRNA.	17					cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCCCCTGCCTCATCCCCACCC	0.706000														51			10		0	0	1	0	0
KPNA3	3839	broad.mit.edu	37	13	50279880	50279880	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr13:50279880A>C	uc001vdj.2	-	14	1664	c.1249T>G	c.(1249-1251)Tgt>Ggt	p.C417G		NM_002267	NP_002258	O00505	IMA3_HUMAN	Homo sapiens karyopherin alpha 3 (importin alpha 4) (KPNA3), mRNA.	417					NLS-bearing substrate import into nucleus|interspecies interaction between organisms|protein complex assembly	cytoplasm|nuclear pore	nuclear localization sequence binding|protein transporter activity			cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		AGTAAATTACAGAACGGTGGT	0.363000														38			22		0	0	1	0	0
CBX6	23466	broad.mit.edu	37	22	39262714	39262714	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:39262714G>A	uc003awl.3	-	4	802	c.739C>T	c.(739-741)Ccc>Tcc	p.P247S		NM_014292	NP_055107	O95503	CBX6_HUMAN	Homo sapiens chromobox homolog 6 (CBX6), mRNA.	247					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					GCCTTGCCGGGGGACGGGGCT	0.716000														73			28		0	0	1	0	0
CYTIP	9595	broad.mit.edu	37	2	158272554	158272554	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:158272554G>A	uc002tzj.1	-	7	787	c.715C>T	c.(715-717)Cga>Tga	p.R239*	CYTIP_uc010zcl.1_Nonsense_Mutation_p.R133*	NM_004288	NP_004279	O60759	CYTIP_HUMAN	Homo sapiens cytohesin 1 interacting protein (CYTIP), mRNA.	239					regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						CTGGATAATCGATTCCGGTCC	0.542000														14			22		0	0	1	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1643027	1643027	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:1643027C>T	uc009ycy.1	-	1	279	c.192G>A	c.(190-192)ggG>ggA	p.G64G	MOB2_uc001ltq.2_Intron	NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN	Homo sapiens keratin associated protein 5-4 (KRTAP5-4), mRNA.	159	9 X 4 AA repeats of C-C-X-P.					keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AGCCACAGCCCCCCTTGGAAC	0.682000														125			19		0	0	1	0	0
ANP32AP1	723972	broad.mit.edu	37	15	35529790	35529790	+	RNA	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:35529790G>A	uc001ziy.3	+	0		c.264G>A								Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member A pseudogene 1 (ANP32AP1), non-coding RNA.																		AAAAGTGTCCGAACCTCACGC	0.423000														64			21		0	0	1	0	0
COL20A1	57642	broad.mit.edu	37	20	61945215	61945215	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:61945215C>T	uc011aau.2	+	17	2430	c.2330C>T	c.(2329-2331)cCc>cTc	p.P777L	COL20A1_uc011aav.2_Missense_Mutation_p.P598L	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	777	Fibronectin type-III 6.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					ACCTACGCCCCCGCCTCTGGC	0.677000														2			12		0	0	1	0	0
CTR9	9646	broad.mit.edu	37	11	10781728	10781728	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:10781728C>T	uc001mja.3	+	5	750	c.601C>T	c.(601-603)Cgt>Tgt	p.R201C		NM_014633	NP_055448	Q6PD62	CTR9_HUMAN	Homo sapiens Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (CTR9), mRNA.	201					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		AGCGGAAGTTCGTTTAGGAAT	0.378000														49			13		0	0	1	0	0
GLP2R	9340	broad.mit.edu	37	17	9791260	9791260	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:9791260G>A	uc002gmd.1	+	11	1296	c.1296G>A	c.(1294-1296)gtG>gtA	p.V432V		NM_004246	NP_004237	O95838	GLP2R_HUMAN	Homo sapiens glucagon-like peptide 2 receptor (GLP2R), mRNA.	432					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)	GGTTCCTGGTGGCCTTGCAGT	0.512000														91			37		0	0	1	0	0
ST5	6764	broad.mit.edu	37	11	8732742	8732742	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:8732742C>T	uc001mgt.3	-	9	2395	c.2209G>A	c.(2209-2211)Gaa>Aaa	p.E737K	ST5_uc009yfr.3_Missense_Mutation_p.E317K|ST5_uc001mgu.3_Missense_Mutation_p.E317K|ST5_uc001mgv.3_Missense_Mutation_p.E737K|ST5_uc010rbq.1_Non-coding_Transcript|ST5_uc010rbp.2_Missense_Mutation_p.E250K|ST5_uc009yfs.3_Non-coding_Transcript	NM_213618	NP_998783	P78524	ST5_HUMAN	Homo sapiens suppression of tumorigenicity 5 (ST5), transcript variant 3, mRNA.	737	UDENN.				positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		TTGAGCCTTTCCTCTGCCTCT	0.592000														49			19		0	0	1	0	0
RFX2	5990	broad.mit.edu	37	19	6001834	6001834	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:6001834G>A	uc002meb.3	-	14	2120	c.1851C>T	c.(1849-1851)tcC>tcT	p.S617S	RFX2_uc002mec.3_Silent_p.S592S	NM_000635	NP_000626	P48378	RFX2_HUMAN	Homo sapiens regulatory factor X, 2 (influences HLA class II expression) (RFX2), transcript variant 1, mRNA.	617					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						ACCTGTAAAAGGACCATTTCA	0.622000														30			13		0	0	1	0	0
EEF2K	29904	broad.mit.edu	37	16	22268607	22268607	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:22268607C>T	uc002dki.3	+	7	1287	c.802C>T	c.(802-804)Cat>Tat	p.H268Y	EEF2K_uc002dkh.3_Non-coding_Transcript	NM_013302	NP_037434	O00418	EF2K_HUMAN	Homo sapiens eukaryotic elongation factor-2 kinase (EEF2K), mRNA.	268	Alpha-type protein kinase.				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)		GCGTTCCGGCCATCAGCTGAT	0.567000														45			42		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79321651	79321651	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:79321651C>T	uc010mpk.3	-	7	5663	c.5539G>A	c.(5539-5541)Gag>Aag	p.E1847K	PRUNE2_uc004akj.4_5'Flank|PRUNE2_uc022big.1_5'Flank|PRUNE2_uc010mpl.1_5'Flank|PRUNE2_uc022bih.1_Missense_Mutation_p.E1669K	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	1847					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCAGACAGCTCCCTTTCAAAT	0.493000														3			7		0	0	1	0	0
NOA1	84273	broad.mit.edu	37	4	57839469	57839469	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:57839469G>A	uc003hck.3	-	2	1435	c.1360C>T	c.(1360-1362)Ccc>Tcc	p.P454S		NM_032313	NP_115689	Q8NC60	CD014_HUMAN	Homo sapiens nitric oxide associated 1 (NOA1), mRNA.	454							GTP binding										AACTCAAAGGGAATGTTATCC	0.368000														99			26		0	0	1	0	0
TPH2	121278	broad.mit.edu	37	12	72366312	72366312	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:72366312C>T	uc009zrw.1	+	5	763	c.622C>T	c.(622-624)Ccc>Tcc	p.P208S	TPH2_uc001swy.2_Missense_Mutation_p.P118S	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN	Homo sapiens tryptophan hydroxylase 2 (TPH2), mRNA.	208					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	TCAGCCCATTCCCAGGGTGGA	0.423000														140			87		0	0	1	0	0
PLEK	5341	broad.mit.edu	37	2	68607890	68607890	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:68607890C>T	uc002sen.4	+	2	396	c.234C>T	c.(232-234)gaC>gaT	p.D78D	PLEK_uc010fde.3_Silent_p.D78D	NM_002664	NP_002655	P08567	PLEK_HUMAN	Homo sapiens pleckstrin (PLEK), mRNA.	78	PH 1.				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		AACAGCAGGACCACTTCTTCC	0.473000														30			45		0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8660973	8660973	+	Missense_Mutation	SNP	T	A	A	rs142981402		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:8660973T>A	uc002mkj.1	-	10	1595	c.1321A>T	c.(1321-1323)Atc>Ttc	p.I441F	ADAMTS10_uc002mkk.1_Missense_Mutation_p.I73F	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	441	Peptidase M12B.				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						AAGCTGGTGATGTAGTCACGG	0.582000														51			21		0	0	1	0	0
SORBS2	8470	broad.mit.edu	37	4	186570649	186570649	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:186570649G>A	uc003iyg.3	-	7	831	c.799C>T	c.(799-801)Cga>Tga	p.R267*	SORBS2_uc003iyh.3_Nonsense_Mutation_p.R360*|SORBS2_uc011ckw.2_Nonsense_Mutation_p.R250*|SORBS2_uc003iyi.3_Nonsense_Mutation_p.R267*|SORBS2_uc011ckx.2_Nonsense_Mutation_p.R227*|SORBS2_uc003iyk.3_Nonsense_Mutation_p.R252*|SORBS2_uc003iym.3_Nonsense_Mutation_p.R281*|SORBS2_uc003iyl.3_Nonsense_Mutation_p.R181*|SORBS2_uc003iyn.1_Nonsense_Mutation_p.R227*|SORBS2_uc011cky.1_Nonsense_Mutation_p.R244*|SORBS2_uc011cku.2_Nonsense_Mutation_p.R100*|SORBS2_uc011ckv.2_Nonsense_Mutation_p.R85*|SORBS2_uc003iyd.3_Nonsense_Mutation_p.R360*|SORBS2_uc003iye.3_Nonsense_Mutation_p.R181*|SORBS2_uc003iya.3_Nonsense_Mutation_p.R181*|SORBS2_uc003iyb.3_Nonsense_Mutation_p.R181*|SORBS2_uc003iyc.3_Nonsense_Mutation_p.R166*|SORBS2_uc003iyf.3_Nonsense_Mutation_p.R244*|SORBS2_uc003iyo.1_Nonsense_Mutation_p.R85*	NM_021069	NP_066547	O94875	SRBS2_HUMAN	Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA.	181						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)		TCTCTTGGTCGAAGCGGCGGG	0.517000														19			3		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215960037	215960037	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:215960037C>T	uc001hku.1	-	51	10749	c.10362G>A	c.(10360-10362)ggG>ggA	p.G3454G		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3454	Fibronectin type-III 19.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.T3453R(1)|p.G3454W(1)		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)		TGTTTACACTCCCTGTATGAA	0.438000										HNSCC(13;0.011)				25			22		0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19447784	19447784	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:19447784G>A	uc001bbi.3	-	67	10044	c.10040C>T	c.(10039-10041)tCc>tTc	p.S3347F	UBR4_uc001bbk.1_Missense_Mutation_p.S994F	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	3347	Ser-rich.				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGCTGAGGAGGAAGAAGCACT	0.547000														39			12		0	0	1	0	0
RIC3	79608	broad.mit.edu	37	11	8161563	8161563	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:8161563G>A	uc010rbm.1	-	1	356	c.302C>T	c.(301-303)cCa>cTa	p.P101L	RIC3_uc001mgb.2_5'Flank|RIC3_uc010rbl.1_Missense_Mutation_p.P51L|RIC3_uc001mgd.2_Missense_Mutation_p.P101L|RIC3_uc001mgc.2_Missense_Mutation_p.P101L|RIC3_uc009yfm.2_Missense_Mutation_p.P101L|RIC3_uc001mge.2_Intron|RIC3_uc009yfn.2_Intron|RIC3_uc001mgf.4_Missense_Mutation_p.P101L	NM_024557	NP_001193600	Q7Z5B4	RIC3_HUMAN	Homo sapiens resistance to inhibitors of cholinesterase 3 homolog (C. elegans) (RIC3), transcript variant 1, mRNA.	101						Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		ACCGTAGATTGGAATAATCTG	0.408000														56			18		0	0	1	0	0
TBC1D13	54662	broad.mit.edu	37	9	131568238	131568238	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:131568238C>T	uc010myj.3	+	9	1142	c.1019C>T	c.(1018-1020)tCc>tTc	p.S340F	TBC1D13_uc010myk.3_Missense_Mutation_p.S215F|TBC1D13_uc010myl.3_Missense_Mutation_p.S159F	NM_018201	NP_060671	Q9NVG8	TBC13_HUMAN	Homo sapiens TBC1 domain family, member 13 (TBC1D13), mRNA.	340	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6						ATCTGGGACTCCCTCTTCGCC	0.582000														34			15		0	0	1	0	0
FCRLA	84824	broad.mit.edu	37	1	161681097	161681098	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:161681097_161681098CC>TT	uc001gbe.3	+	3	643_644	c.401_402CC>TT	c.(400-402)acc>aTT	p.T134I	FCRLA_uc001gbg.3_Intron|FCRLA_uc009wup.3_Intron|FCRLA_uc009wuq.3_Intron|FCRLA_uc001gbd.3_Missense_Mutation_p.T128I|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.	111	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)			ACTCAGGTGACCTTCTACCGAG	0.599000														37			23		0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117350	117350	+	RNA	SNP	C	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrGL000205.1:117350C>A	uc002kgk.4	+	0		c.728C>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GGCCACCTGGCCTTCTGTGAG	0.577000														39			9		1.12685e-05	1.13337e-05	1	1	0
MDC1	9656	broad.mit.edu	37	6	30671610	30671610	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:30671610G>A	uc003nrg.4	-	9	5790	c.5350C>T	c.(5350-5352)Cat>Tat	p.H1784Y	MDC1_uc003nrf.4_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.H1391Y	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	1784	Required for nuclear localization (NLS2).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						TGGGAGGCATGAATTGGTGTC	0.552000								Other conserved DNA damage response genes						84			16		0	0	1	0	0
POLA2	23649	broad.mit.edu	37	11	65046208	65046208	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:65046208C>T	uc001odj.3	+	5	801	c.469C>T	c.(469-471)Ccc>Tcc	p.P157S	POLA2_uc009yqf.1_Missense_Mutation_p.P157S|POLA2_uc010rod.1_5'UTR|POLA2_uc001odk.3_5'Flank	NM_002689	NP_002680	Q14181	DPOA2_HUMAN	Homo sapiens polymerase (DNA directed), alpha 2 (70kD subunit) (POLA2), mRNA.	157	Pro/Ser/Thr-rich.				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	nucleoplasm	DNA binding			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	TAGTGCTACTCCCTCCCAGAA	0.448000														97			41		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13714589	13714589	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:13714589C>T	uc003jfd.2	-	74	13092	c.13050G>A	c.(13048-13050)gaG>gaA	p.E4350E	DNAH5_uc003jfc.2_Silent_p.E518E	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4350					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.D4349Y(1)		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)					CCTCCCGGGTCTCATCCCCTC	0.572000									Kartagener syndrome					72			24		0	0	1	0	0
VIT	5212	broad.mit.edu	37	2	37035878	37035878	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:37035878C>T	uc002rpl.3	+	14	1955	c.1653C>T	c.(1651-1653)gcC>gcT	p.A551A	VIT_uc002rpm.3_Silent_p.A536A|VIT_uc010ezv.3_Silent_p.A514A|VIT_uc010ezw.3_Silent_p.A515A	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	Homo sapiens vitrin (VIT), transcript variant 1, mRNA.	536	VWFA 2.					proteinaceous extracellular matrix		p.G550G(1)		autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				GCATCGGGGCCGTGCAGTACA	0.582000														31			17		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152283244	152283244	+	Missense_Mutation	SNP	A	G	G	rs140909774		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:152283244A>G	uc001ezu.1	-	2	4154	c.4118T>C	c.(4117-4119)aTt>aCt	p.I1373T	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1373	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)			TCTGTGCCCAATGCCTGAGTG	0.542000									Ichthyosis					255			151		0	0	1	0	0
BPIFB3	359710	broad.mit.edu	37	20	31656706	31656706	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:31656706C>T	uc002wym.1	+	9	1076	c.1076C>T	c.(1075-1077)tCc>tTc	p.S359F		NM_182658	NP_872599	P59826	LPLC3_HUMAN	Homo sapiens BPI fold containing family B, member 3 (BPIFB3), mRNA.	359					innate immune response	cytoplasm|extracellular region	lipid binding|protein binding										GCCTTGGTCTCCCTCCCAGCC	0.607000														50			21		0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36681241	36681241	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:36681241G>A	uc003apg.3	-	37	5640	c.5409C>T	c.(5407-5409)tcC>tcT	p.S1803S		NM_002473	NP_002464	P35579	MYH9_HUMAN	Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.	1803					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CCTTGTACTTGGACTTGACAG	0.607000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated					47			28		0	0	1	0	0
IGSF21	84966	broad.mit.edu	37	1	18703305	18703305	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:18703305C>T	uc001bau.2	+	7	1496	c.1113C>T	c.(1111-1113)ttC>ttT	p.F371F	IGSF21_uc001bav.2_Silent_p.F192F	NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	Homo sapiens immunoglobin superfamily, member 21 (IGSF21), mRNA.	371	Ig-like 2.					extracellular region				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)		ACGAAGTCTTCCCGGAGCCCA	0.672000														42			24		0	0	1	0	0
ADCY6	112	broad.mit.edu	37	12	49169835	49169835	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:49169835G>A	uc001rsh.4	-	7	2377	c.1717C>T	c.(1717-1719)Cgg>Tgg	p.R573W	ADCY6_uc001rsi.4_Missense_Mutation_p.R573W|ADCY6_uc001rsj.4_Missense_Mutation_p.R573W|ADCY6_uc010slw.1_5'Flank	NM_015270	NP_056085	O43306	ADCY6_HUMAN	Homo sapiens adenylate cyclase 6 (ADCY6), transcript variant 1, mRNA.	573					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	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						GAGTTGGCCCGAGTCCGCTGC	0.652000														17			5		0	0	1	0	0
GPR176	11245	broad.mit.edu	37	15	40094426	40094426	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:40094426C>T	uc001zkj.1	-	2	1321	c.455G>A	c.(454-456)aGg>aAg	p.R152K	GPR176_uc010uck.1_Missense_Mutation_p.R92K	NM_007223	NP_009154	Q14439	GP176_HUMAN	Homo sapiens G protein-coupled receptor 176 (GPR176), mRNA.	152					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)		AGATATTTTCCTCTCCAGTGG	0.443000											OREG0023053	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		38			11		0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40059813	40059813	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:40059813C>T	uc003ayc.3	+	18	3564	c.3564C>T	c.(3562-3564)gcC>gcT	p.A1188A	CACNA1I_uc003ayd.3_Silent_p.A1153A|CACNA1I_uc003aye.3_Silent_p.A1103A|CACNA1I_uc003ayf.3_Silent_p.A1068A	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	1188					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TCACCATCGCCCTGGAGCGGC	0.627000														207			29		0	0	1	0	0
MAPK8	5599	broad.mit.edu	37	10	49617959	49617959	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:49617959C>T	uc001jgp.3	+	2	339	c.290C>T	c.(289-291)tCc>tTc	p.S97F	MAPK8_uc001jgn.3_Missense_Mutation_p.S97F|MAPK8_uc001jgm.3_Missense_Mutation_p.S97F|MAPK8_uc001jgo.3_Missense_Mutation_p.S97F|MAPK8_uc001jgq.3_Missense_Mutation_p.S97F|MAPK8_uc009xoa.3_Missense_Mutation_p.S97F|MAPK8_uc021ppy.1_Missense_Mutation_p.S97F|MAPK8_uc010qgk.2_Missense_Mutation_p.S97F	NM_139049	NP_620637	P45983	MK08_HUMAN	Homo sapiens mitogen-activated protein kinase 8 (MAPK8), transcript variant JNK1-a2, mRNA.	97	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|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|nucleoplasm	ATP binding|JUN kinase activity|histone deacetylase binding|histone deacetylase regulator activity|protein binding			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		CCACAGAAATCCCTAGAAGAA	0.284000														27			6		0	0	1	0	0
SLC39A12	221074	broad.mit.edu	37	10	18250618	18250618	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:18250618C>T	uc001ipo.2	+	2	643	c.370C>T	c.(370-372)Cat>Tat	p.H124Y	SLC39A12_uc001ipn.2_Missense_Mutation_p.H124Y|SLC39A12_uc001ipp.2_Missense_Mutation_p.H124Y|SLC39A12_uc010qck.1_5'UTR	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 12 (SLC39A12), transcript variant 1, mRNA.	124					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	p.H124Q(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TTACATTATTCATCAGGAAGA	0.388000														40			8		0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38486081	38486081	+	Splice_Site	SNP	A	G	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:38486081A>G	uc010ive.1	-	17	2668	c.2336_splice	c.e17-1	p.G779_splice	LIFR_uc003jli.2_Splice_Site_p.G779_splice	NM_001127671	NP_002301	P42702	LIFR_HUMAN	Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA.	779	Fibronectin type-III 6.				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)					TGTCAGAACGACCTATTTTTA	0.398000			T	PLAG1	salivary adenoma									42			5		0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104375782	104375782	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:104375782G>A	uc004bbp.2	-	5	3243	c.2642C>T	c.(2641-2643)tCt>tTt	p.S881F	GRIN3A_uc004bbq.1_Missense_Mutation_p.S881F	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	881					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GGTCAATGGAGAGTTGGGTGG	0.458000														27			9		0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5485230	5485230	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:5485230C>T	uc002gci.3	-	2	1156	c.601G>A	c.(601-603)Gct>Act	p.A201T	NLRP1_uc002gcg.1_Missense_Mutation_p.A201T|NLRP1_uc002gch.4_Missense_Mutation_p.A201T|NLRP1_uc002gck.3_Missense_Mutation_p.A201T|NLRP1_uc002gcj.3_Missense_Mutation_p.A201T|NLRP1_uc002gcl.3_Missense_Mutation_p.A201T|NLRP1_uc010clh.3_Missense_Mutation_p.A201T	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	201					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)				GTCCCAGGAGCCTCCTGCTCT	0.617000														49			13		0	0	1	0	0
PRAME	23532	broad.mit.edu	37	22	22892567	22892567	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:22892567G>A	uc002zwf.3	-	3	690	c.534C>T	c.(532-534)ctC>ctT	p.L178L	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|PRAME_uc011air.2_Silent_p.L162L|PRAME_uc010gtr.3_Silent_p.L178L|PRAME_uc002zwg.3_Silent_p.L178L|PRAME_uc002zwh.3_Silent_p.L178L|PRAME_uc002zwi.3_Silent_p.L178L|PRAME_uc002zwj.3_Silent_p.L178L|PRAME_uc002zwk.3_Silent_p.L178L	NM_206956	NP_996839	P78395	PRAME_HUMAN	Homo sapiens preferentially expressed antigen in melanoma (PRAME), transcript variant 5, mRNA.	178					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		ACAGGTCTACGAGCACCTCTA	0.478000														42			51		0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17088270	17088270	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:17088270G>A	uc002nfb.3	-	14	1839	c.1807C>T	c.(1807-1809)Ctt>Ttt	p.L603F		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	556						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						AGGCGACCAAGGGGGACCATG	0.582000														27			16		0	0	1	0	0
ADAM12	8038	broad.mit.edu	37	10	127737999	127737999	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:127737999G>A	uc001ljk.2	-	15	2162	c.1749C>T	c.(1747-1749)atC>atT	p.I583I	ADAM12_uc010qul.1_Silent_p.I534I|ADAM12_uc001ljm.3_Silent_p.I583I|ADAM12_uc001ljn.3_Silent_p.I580I|ADAM12_uc001ljl.4_Silent_p.I580I	NM_003474	NP_003465	O43184	ADA12_HUMAN	Homo sapiens ADAM metallopeptidase domain 12 (ADAM12), transcript variant 1, mRNA.	583	Cys-rich.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	SH3 domain binding|metalloendopeptidase activity|protein binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CTTGACACTGGATTTTTCCAC	0.502000														42			34		0	0	1	0	0
UIMC1	51720	broad.mit.edu	37	5	176395857	176395857	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:176395857A>G	uc021yil.1	-	5	1066	c.899T>C	c.(898-900)tTg>tCg	p.L300S	UIMC1_uc021yim.1_Missense_Mutation_p.L300S|UIMC1_uc021yin.1_Missense_Mutation_p.L300S|UIMC1_uc003mfd.2_Intron|UIMC1_uc003mff.1_Intron	NM_016290	NP_057374	Q96RL1	UIMC1_HUMAN	Homo sapiens ubiquitin interaction motif containing 1 (UIMC1), transcript variant 2, mRNA.	300	AIR.				G2/M transition DNA damage checkpoint|double-strand break repair|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	K63-linked polyubiquitin binding|histone binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATAAACCTCCAACTGGCAGAG	0.478000														37			11		0	0	1	0	0
IZUMO4	113177	broad.mit.edu	37	19	2097455	2097455	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:2097455C>T	uc002luw.1	+	2	408	c.331C>T	c.(331-333)Cgg>Tgg	p.R111W	IZUMO4_uc002lux.1_Missense_Mutation_p.R111W|IZUMO4_uc010xgw.1_Missense_Mutation_p.R111W	NM_001039846	NP_001034935	Q1ZYL8	IZUM4_HUMAN	Homo sapiens IZUMO family member 4 (IZUMO4), transcript variant 3, mRNA.	111						extracellular region				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	6						AAACATCTTCCGGGAGCAGGT	0.637000											OREG0025135	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		16			6		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1271019	1271019	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:1271019G>A	uc001lta.3	+	30	12968	c.12909G>A	c.(12907-12909)agG>agA	p.R4303R		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	4303	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCAGTCCAAGGACTGCAACCA	0.632000														116			52		0	0	1	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307287	39307287	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:39307287G>A	uc021wwc.1	-	1	850	c.810C>T	c.(808-810)atC>atT	p.I270I	CX3CR1_uc021wwa.1_Silent_p.I238I|CX3CR1_uc021wwb.1_Silent_p.I238I|CX3CR1_uc003cjl.3_Silent_p.I238I|CX3CR1_uc021wwd.1_Silent_p.I238I	NM_001171174	NP_001164645	P49238	CX3C1_HUMAN	Homo sapiens chemokine (C-X3-C motif) receptor 1 (CX3CR1), transcript variant 1, mRNA.	238					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity	p.I238I(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		GGAAAAACACGATGACCACCA	0.428000														28			35		0	0	1	0	0
LACE1	246269	broad.mit.edu	37	6	108768474	108768474	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:108768474C>T	uc003psj.3	+	7	1051	c.865C>T	c.(865-867)Cct>Tct	p.P289S		NM_145315	NP_660358	Q8WV93	LACE1_HUMAN	Homo sapiens lactation elevated 1 (LACE1), mRNA.	289							ATP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		AAGGGAACTTCCTGCTGCAGG	0.328000														11			14		0	0	1	0	0
EARS2	124454	broad.mit.edu	37	16	23563520	23563520	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:23563520C>T	uc002dlu.3	-	1	277	c.245G>A	c.(244-246)cGc>cAc	p.R82H	EARS2_uc002dlr.4_5'Flank|EARS2_uc002dls.4_Non-coding_Transcript|EARS2_uc002dlt.4_Missense_Mutation_p.R82H	NM_001083614	NP_001077083	Q5JPH6	SYEM_HUMAN	Homo sapiens glutamyl-tRNA synthetase 2, mitochondrial (putative) (EARS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	82					glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|RNA binding|glutamate-tRNA ligase activity			central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)	L-Glutamic Acid(DB00142)	AGGCACAACGCGAGTCTGATC	0.547000														64			17		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216256814	216256814	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:216256814C>T	uc001hku.1	-	25	5669	c.5282G>A	c.(5281-5283)gGa>gAa	p.G1761E		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	1761	Laminin G-like 2.				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)		AAAATCAGGTCCATCTTTGTT	0.294000										HNSCC(13;0.011)				57			7		0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519829	113519829	+	Missense_Mutation	SNP	C	T	T	rs145814266		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:113519829C>T	uc010ljy.1	-	3	1349	c.1318G>A	c.(1318-1320)Gat>Aat	p.D440N		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	440					glycogen metabolic process	integral to membrane		p.D440N(2)|p.D439G(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						TTAGCATTATCATCCAGGACT	0.418000														67			42		0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198691586	198691586	+	Silent	SNP	T	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:198691586T>A	uc001gur.1	+	14	1875	c.1695T>A	c.(1693-1695)atT>atA	p.I565I	PTPRC_uc001gut.1_Silent_p.I404I|PTPRC_uc009wzf.1_Silent_p.I453I|PTPRC_uc021pgy.1_Silent_p.I519I|PTPRC_uc010ppg.1_Silent_p.I501I	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	565	Fibronectin type-III 2.				B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AACCCTTTATTTTACATCATT	0.234000														45			10		0	0	1	0	0
ACTL8	81569	broad.mit.edu	37	1	18149627	18149627	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:18149627C>T	uc001bat.3	+	1	340	c.124C>T	c.(124-126)Cct>Tct	p.P42S		NM_030812	NP_110439	Q9H568	ACTL8_HUMAN	Homo sapiens actin-like 8 (ACTL8), mRNA.	42						cytoplasm|cytoskeleton				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|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;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		CAAGGAGAACCCTGGCCCCAG	0.597000														55			37		0	0	1	0	0
SCNN1A	6337	broad.mit.edu	37	12	6457212	6457212	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:6457212G>A	uc001qnw.3	-	11	2278	c.2014C>T	c.(2014-2016)Cct>Tct	p.P672S	SCNN1A_uc001qnv.3_Missense_Mutation_p.P313S|SCNN1A_uc001qnx.3_Missense_Mutation_p.P613S|SCNN1A_uc010sfb.2_Missense_Mutation_p.P636S	NM_001159576	NP_001029	P37088	SCNNA_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1 alpha (SCNN1A), transcript variant 2, mRNA.	613					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	tgggaaggaggggaggatgcc	0.652000														12			5		0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	70853249	70853249	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:70853249C>T	uc003tvy.3	+	2	451	c.451C>T	c.(451-453)Ctg>Ttg	p.L151L	WBSCR17_uc003tvz.3_5'UTR	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	151	Catalytic subdomain A.					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)				CTCCAAGGACCTGCCCCAGAT	0.542000														59			9		0	0	1	0	0
P2RY8	286530	broad.mit.edu	37	X	1584466	1584466	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:1584466C>T	uc022brv.1	-	0	986	c.986G>A	c.(985-987)aGg>aAg	p.R329K	CRLF2_uc022brt.1_Intron|P2RY8_uc004cpz.2_Missense_Mutation_p.R329K	NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 8 (P2RY8), mRNA.	329						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)				GGACGTGGTCCTGGCGGAGAA	0.697000			T	CRLF2	"""B-ALL, Downs associated ALL"""									41			44		0	0	1	0	0
NIPAL4	348938	broad.mit.edu	37	5	156899960	156899960	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:156899960C>T	uc003lwx.4	+	5	1509	c.1393C>T	c.(1393-1395)Cat>Tat	p.H465Y	ADAM19_uc003lww.2_Intron|NIPAL4_uc011ddq.2_Missense_Mutation_p.H446Y	NM_001099287	NP_001092757	Q0D2K0	NIPA4_HUMAN	Homo sapiens NIPA-like domain containing 4 (NIPAL4), transcript variant 1, mRNA.	465						integral to membrane	receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						ATTTATAATCCATTCCTGAAG	0.438000														39			12		0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189868786	189868786	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:189868786C>T	uc002uqj.1	+	38	2857	c.2740C>T	c.(2740-2742)Cct>Tct	p.P914S		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	914	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.P914T(2)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CACTGGTGCTCCTGGCAGCCC	0.567000														17			7		0	0	1	0	0
AKAP4	8852	broad.mit.edu	37	X	49958758	49958758	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:49958758C>T	uc004dow.1	-	4	730	c.606G>A	c.(604-606)caG>caA	p.Q202Q	AKAP4_uc004dou.1_Silent_p.Q193Q|AKAP4_uc004dov.1_Intron|AKAP4_uc010njp.1_Silent_p.Q24Q	NM_003886	NP_647450	Q5JQC9	AKAP4_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 4 (AKAP4), transcript variant 1, mRNA.	202					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	p.Q202H(2)		NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TGACTGCTCTCTGAGTGCTAG	0.443000														23			90		0	0	1	0	0
SERPINA6	866	broad.mit.edu	37	14	94770903	94770903	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:94770903C>T	uc001ycv.3	-	4	1174	c.1070G>A	c.(1069-1071)gGt>gAt	p.G357D	SERPINA6_uc010auv.3_Non-coding_Transcript	NM_001756	NP_001747	P08185	CBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 (SERPINA6), mRNA.	357					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	TGTGTCCACACCCTCCTCATT	0.517000														10			17		0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35070273	35070274	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:35070273_35070274CC>TT	uc003jjm.3	-	6	1196_1197	c.637_638GG>AA	c.(637-639)gga>AAa	p.G213K	PRLR_uc003jjk.1_Missense_Mutation_p.G142K|PRLR_uc003jjg.2_Missense_Mutation_p.G213K|PRLR_uc003jjh.2_Missense_Mutation_p.G213K|PRLR_uc003jji.2_Missense_Mutation_p.G142K|PRLR_uc003jjj.2_Missense_Mutation_p.G213K|PRLR_uc003jjl.4_Missense_Mutation_p.G112K|PRLR_uc021xxl.1_Missense_Mutation_p.G213K|PRLR_uc010iuw.1_Missense_Mutation_p.G142K	NM_000949	NP_000940	P16471	PRLR_HUMAN	Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA.	213	Fibronectin type-III 2.				T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	ACTCCAGTATCCATGGTCTGGT	0.446000														38			11		0	0	1	0	0
LBP	3929	broad.mit.edu	37	20	36997697	36997697	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:36997697C>T	uc002xic.1	+	9	1075	c.1040C>T	c.(1039-1041)cCg>cTg	p.P347L		NM_004139	NP_004130	P18428	LBP_HUMAN	Homo sapiens lipopolysaccharide binding protein (LBP), mRNA.	347					Toll signaling pathway|acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				CCCTCTGCTCCGCTCCTGAAC	0.522000														148			26		0	0	1	0	0
SRM	6723	broad.mit.edu	37	1	11115918	11115918	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:11115918G>A	uc001arz.1	-	5	776	c.685C>T	c.(685-687)Ccc>Tcc	p.P229S		NM_003132	NP_003123	P19623	SPEE_HUMAN	Homo sapiens spermidine synthase (SRM), mRNA.	229					spermidine biosynthetic process	cytosol	protein homodimerization activity|spermidine synthase activity			large_intestine(1)|lung(1)|urinary_tract(1)	3	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-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;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)|Spermine(DB00127)	GCCACCACGGGGAACAGGGAC	0.647000														15			6		0	0	1	0	0
BBS12	166379	broad.mit.edu	37	4	123664681	123664681	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:123664681T>C	uc021xrm.1	+	2	2015	c.1634T>C	c.(1633-1635)tTg>tCg	p.L545S	BBS12_uc003ieu.3_Missense_Mutation_p.L545S|BBS12_uc021xrn.1_Missense_Mutation_p.L545S	NM_001178007	NP_689831	Q6ZW61	BBS12_HUMAN	Homo sapiens Bardet-Biedl syndrome 12 (BBS12), transcript variant 1, mRNA.	545					cellular protein metabolic process	cilium	ATP binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						GTTGAATTTTTGTGTCTTAGC	0.418000									Bardet-Biedl syndrome					50			28		0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151604815	151604815	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:151604815G>A	uc010ipj.3	-	36	6053	c.5809C>T	c.(5809-5811)Cat>Tat	p.H1937Y	LRBA_uc003ilt.4_Missense_Mutation_p.H596Y|LRBA_uc003ilu.4_Missense_Mutation_p.H1937Y	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	1937						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CTTATCAAATGATCACACATC	0.378000														22			16		0	0	1	0	0
PHYHIPL	84457	broad.mit.edu	37	10	61005156	61005156	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:61005156C>T	uc001jkk.4	+	4	1202	c.936C>T	c.(934-936)acC>acT	p.T312T	PHYHIPL_uc001jkl.4_Silent_p.T266T|PHYHIPL_uc001jkm.4_Silent_p.T286T	NM_032439	NP_115815	Q96FC7	PHIPL_HUMAN	Homo sapiens phytanoyl-CoA 2-hydroxylase interacting protein-like (PHYHIPL), transcript variant 1, mRNA.	312										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1)	18						AATTTTTGACCTGTACAGAAG	0.428000														22			21		0	0	1	0	0
MND1	84057	broad.mit.edu	37	4	154271221	154271221	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:154271221G>A	uc003ink.2	+	1	98	c.9G>A	c.(7-9)aaG>aaA	p.K3K	MND1_uc021xtj.1_Non-coding_Transcript|MND1_uc021xtk.1_Silent_p.K3K	NM_032117	NP_115493	Q9BWT6	MND1_HUMAN	Homo sapiens meiotic nuclear divisions 1 homolog (S. cerevisiae) (MND1), transcript variant 1, mRNA.	3					DNA recombination|meiosis	nucleus	DNA binding			large_intestine(2)|lung(1)	3	all_hematologic(180;0.093)					TTTAGTCAAAGAAAAAAGGAC	0.279000														27			9		0	0	1	0	0
HEATR4	399671	broad.mit.edu	37	14	73987679	73987680	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:73987679_73987680CC>TT	uc021rwe.1	-	3	1293_1294	c.945_946GG>AA	c.(943-948)gaggat>gaAAat	p.D316N	HEATR4_uc021rwf.1_Missense_Mutation_p.D269N|HEATR4_uc010tub.1_Missense_Mutation_p.D316N	NM_001220484	NP_001207413			Homo sapiens HEAT repeat containing 4 (HEATR4), transcript variant 1, mRNA.											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		TCATGGATATCCTCAGTGCTCT	0.530000														39			17		0	0	1	0	0
OR8H1	219469	broad.mit.edu	37	11	56057802	56057802	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:56057802C>T	uc010rje.2	-	0	737	c.737G>A	c.(736-738)gGa>gAa	p.G246E		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 1 (OR8H1), mRNA.	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G246A(2)|p.G246*(1)		NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					GATGGTGACTCCCAAGAGATG	0.358000														42			15		0	0	1	0	0
STXBP3	6814	broad.mit.edu	37	1	109325077	109325077	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:109325077C>T	uc001dvy.3	+	9	918	c.843C>T	c.(841-843)atC>atT	p.I281I		NM_007269	NP_009200	O00186	STXB3_HUMAN	Homo sapiens syntaxin binding protein 3 (STXBP3), mRNA.	281					negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis	cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule	syntaxin-2 binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		AGGAGGCCATCCTTGAAGAAG	0.323000														52			13		0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19486765	19486765	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:19486765G>A	uc001bbi.3	-	38	5421	c.5417C>T	c.(5416-5418)tCc>tTc	p.S1806F	UBR4_uc001bbm.1_Missense_Mutation_p.S1017F	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	1806					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AGGAGCGAAGGAGAAATTGGC	0.403000														19			11		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38812792	38812792	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:38812792C>T	uc003ciq.3	-	3	577	c.577G>A	c.(577-579)Gat>Aat	p.D193N		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	193					sensory perception	voltage-gated sodium channel complex		p.D193Y(2)		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)	ACGCTAAAATCCAGCCAGTTC	0.448000														61			26		0	0	1	0	0
TRAFD1	10906	broad.mit.edu	37	12	112585891	112585891	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:112585891C>T	uc001ttp.3	+	7	1027	c.941C>T	c.(940-942)cCt>cTt	p.P314L	TRAFD1_uc001tto.3_Missense_Mutation_p.P314L|TRAFD1_uc010syj.1_Non-coding_Transcript	NM_006700	NP_006691	O14545	TRAD1_HUMAN	Homo sapiens TRAF-type zinc finger domain containing 1 (TRAFD1), transcript variant 2, mRNA.	314					negative regulation of innate immune response	intracellular	protein binding|zinc ion binding			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						AGCTGTAACCCTTCACGTGCC	0.403000														20			8		0	0	1	0	0
PSD4	23550	broad.mit.edu	37	2	113940670	113940670	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:113940670G>A	uc002tjc.3	+	1	820	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K	PSD4_uc002tjd.3_5'UTR|PSD4_uc002tje.3_Missense_Mutation_p.E212K|PSD4_uc002tjf.3_5'Flank	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	213					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	p.G212V(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGACTCAGGGGAAGACAGCAG	0.632000														13			26		0	0	1	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149216604	149216604	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:149216604C>T	uc003lrc.3	+	7	2677	c.2586C>T	c.(2584-2586)caC>caT	p.H862H	PPARGC1B_uc003lrb.2_Silent_p.H862H|PPARGC1B_uc003lrd.3_Silent_p.H823H|PPARGC1B_uc021yfr.1_Silent_p.H798H|PPARGC1B_uc003lre.1_Silent_p.H841H|PPARGC1B_uc003lrf.3_Silent_p.H841H	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B), transcript variant 1, mRNA.	862					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)			CACCCTGCCACTCCTGGTCAC	0.642000														96			80		0	0	1	0	0
SBK2	646643	broad.mit.edu	37	19	56047462	56047462	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:56047462G>A	uc010ygc.2	-	1	215	c.200C>T	c.(199-201)cCc>cTc	p.P67L		NM_001101401	NP_001094871	P0C263	SBK2_HUMAN	Homo sapiens SH3-binding domain kinase family, member 2 (SBK2), mRNA.	67	Protein kinase.						ATP binding|protein serine/threonine kinase activity			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						CTGGCCCAGGGGACGCACTTC	0.672000														17			8		0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6128270	6128270	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:6128270G>A	uc001qnn.1	-	27	4564	c.4314C>T	c.(4312-4314)ttC>ttT	p.F1438F	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	1438	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)	TGCTCAGCACGAAGGCCTTGT	0.592000														68			24		0	0	1	0	0
CGN	57530	broad.mit.edu	37	1	151499454	151499454	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:151499454C>T	uc009wmw.3	+	9	1911	c.1767C>T	c.(1765-1767)ctC>ctT	p.L589L		NM_020770	NP_065821	Q9P2M7	CING_HUMAN	Homo sapiens cingulin (CGN), mRNA.	583	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)			GGCTCAGACTCCTGCAGCTGC	0.537000														22			15		0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49700806	49700806	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:49700806G>A	uc003cxe.4	+	6	11329	c.11215G>A	c.(11215-11217)Gca>Aca	p.A3739T		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	3739					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)		GCAGTCAAAGGCAGAACCCCA	0.632000														76			26		0	0	1	0	0
MAST2	23139	broad.mit.edu	37	1	46494544	46494544	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:46494544G>A	uc001cov.3	+	17	2440	c.2157G>A	c.(2155-2157)ctG>ctA	p.L719L	MAST2_uc001cow.3_Silent_p.L719L|MAST2_uc001coy.1_Silent_p.L393L|MAST2_uc001coz.1_Silent_p.L604L|MAST2_uc001cpa.3_Non-coding_Transcript	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 2 (MAST2), mRNA.	719	Protein kinase.				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					ATGAGTTCCTGGTGGGCTGCG	0.582000														125			132		0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	62989974	62989974	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:62989974C>T	uc002alb.4	+	11	1380	c.1380C>T	c.(1378-1380)tcC>tcT	p.S460S		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	460					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						GCTCGGGCTCCAGCGGGCCTG	0.662000														73			13		0	0	1	0	0
SLC22A7	10864	broad.mit.edu	37	6	43266381	43266382	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:43266381_43266382GG>AA	uc021yzt.1	+	0	384_385	c.285_286GG>AA	c.(283-288)ggggaa>ggAAaa	p.E96K	SLC22A7_uc010jyl.1_Missense_Mutation_p.E96K|SLC22A7_uc003ous.3_Missense_Mutation_p.E96K|SLC22A7_uc003out.3_Missense_Mutation_p.E96K	NM_153320	NP_696961	Q9Y694	S22A7_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 7 (SLC22A7), transcript variant 2, mRNA.	96						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			CCACGTTGGGGGAAGAAAGGCA	0.619000														27			7		0	0	1	0	0
PHF19	26147	broad.mit.edu	37	9	123628356	123628356	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:123628356G>A	uc004bks.1	-	7	982	c.729C>T	c.(727-729)tgC>tgT	p.C243C	PHF19_uc011lyf.1_Silent_p.C34C|PHF19_uc004bkr.2_Non-coding_Transcript	NM_015651	NP_056466	Q5T6S3	PHF19_HUMAN	Homo sapiens PHD finger protein 19 (PHF19), transcript variant 1, mRNA.	243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TACACACGGAGCAGAAGAACA	0.617000														44			14		0	0	1	0	0
CIB1	10519	broad.mit.edu	37	15	90774220	90774220	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:90774220G>A	uc002bpb.4	-	5	662	c.500C>T	c.(499-501)aCc>aTc	p.T167I		NM_006384	NP_006375	Q99828	CIB1_HUMAN	Homo sapiens calcium and integrin binding 1 (calmyrin) (CIB1), mRNA.	167	EF-hand 2.				apoptosis|cell adhesion|double-strand break repair	apical plasma membrane|endoplasmic reticulum|filopodium|nucleoplasm	calcium ion binding|protein binding			lung(1)|prostate(1)	2	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			GAGGTTGATGGTTCCATCCCT	0.577000														180			13		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139158265	139158266	+	Missense_Mutation	DNP	CT	TC	TC			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:139158265_139158266CT>TC	uc003yuy.3	-	14	3647_3648	c.3476_3477AG>GA	c.(3475-3477)aag>aGA	p.K1159R	FAM135B_uc003yux.3_Missense_Mutation_p.K1060R|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.K721R|FAM135B_uc003yvb.3_Missense_Mutation_p.D687N	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	1159										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)			CTATGAAAGTCTTTACCAGCCG	0.441000										HNSCC(54;0.14)				36			10		0	0	1	0	0
KRT222	125113	broad.mit.edu	37	17	38816459	38816459	+	Splice_Site	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:38816459C>T	uc002hvc.2	-	3	291	c.226_splice	c.e3-1	p.E76_splice	KRT222_uc002hvb.2_Splice_Site_p.E36_splice|KRT222_uc010cxc.3_Splice_Site_p.E36_splice	NM_152349	NP_689562	Q8N1A0	KT222_HUMAN	Homo sapiens keratin 222 (KRT222), mRNA.	76						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						AGGCCCCTTTCCTGTTTTATA	0.383000														51			37		0	0	1	0	0
KIAA0913	23053	broad.mit.edu	37	10	75550803	75550803	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:75550803C>T	uc001jvj.3	+	7	1267	c.1012C>T	c.(1012-1014)Cct>Tct	p.P338S	KIAA0913_uc001jve.3_Missense_Mutation_p.P338S|KIAA0913_uc009xrl.3_Missense_Mutation_p.P338S|KIAA0913_uc001jvf.3_Missense_Mutation_p.P338S|KIAA0913_uc001jvh.3_5'Flank|KIAA0913_uc001jvi.3_5'Flank|KIAA0913_uc010qkr.2_5'Flank	NM_001242488	NP_001229417	A7E2V4	K0913_HUMAN	Homo sapiens KIAA0913 (KIAA0913), transcript variant 3, mRNA.	338							zinc ion binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|lung(6)	19	Prostate(51;0.0112)					TCTGCTGCGCCCTCTGAGGGG	0.562000														58			19		0	0	1	0	0
BRPF3	27154	broad.mit.edu	37	6	36172462	36172462	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:36172462C>T	uc003olv.4	+	2	1700	c.1476C>T	c.(1474-1476)tcC>tcT	p.S492S	BRPF3_uc010jwb.3_Silent_p.S492S|BRPF3_uc011dtj.2_Non-coding_Transcript|BRPF3_uc010jwc.3_Non-coding_Transcript|BRPF3_uc011dtk.2_Silent_p.S492S	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	Homo sapiens bromodomain and PHD finger containing, 3 (BRPF3), mRNA.	492					histone H3 acetylation|platelet activation|platelet degranulation	MOZ/MORF histone acetyltransferase complex|cytosol|extracellular region	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						GTGGTCTCTCCTTTCAGAGGA	0.517000														99			13		0	0	1	0	0
CREB3L3	84699	broad.mit.edu	37	19	4157164	4157164	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:4157164C>T	uc002lzl.3	+	2	445	c.329C>T	c.(328-330)cCc>cTc	p.P110L	CREB3L3_uc002lzm.3_Missense_Mutation_p.P100L|CREB3L3_uc010xib.2_Missense_Mutation_p.P101L|CREB3L3_uc010xic.2_Missense_Mutation_p.P101L	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 3 (CREB3L3), mRNA.	110					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)		GCCACCTCCCCCGCCGGCTGC	0.662000														50			21		0	0	1	0	0
C20orf132	140699	broad.mit.edu	37	20	35742522	35742522	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:35742522G>A	uc010zvu.2	-	20	2653	c.2562C>T	c.(2560-2562)tcC>tcT	p.S854S	C20orf132_uc002xgk.3_Silent_p.S486S	NM_152503	NP_689716	Q9H579	CT132_HUMAN	Homo sapiens chromosome 20 open reading frame 132 (C20orf132), transcript variant 1, mRNA.	0										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(115;0.00878)				AGAGAGTCACGGAGAAACGAT	0.478000														15			9		0	0	1	0	0
GPR108	56927	broad.mit.edu	37	19	6733920	6733920	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:6733920G>A	uc002mfp.3	-	6	600	c.554C>T	c.(553-555)cCt>cTt	p.P185L	GPR108_uc010duv.3_5'Flank	NM_001080452	NP_001073921	Q9NPR9	GP108_HUMAN	Homo sapiens G protein-coupled receptor 108 (GPR108), mRNA.	185						integral to membrane				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						CTTCCCACTAGGACCCTGAAG	0.627000											OREG0025092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		22			19		0	0	1	0	0
DACH1	1602	broad.mit.edu	37	13	72063167	72063167	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr13:72063167C>T	uc021rkj.1	-	6	2113	c.1690G>A	c.(1690-1692)Gga>Aga	p.G564R	DACH1_uc021rkk.1_Missense_Mutation_p.G416R|DACH1_uc021rkl.1_Missense_Mutation_p.G362R	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA.	614					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	p.D563N(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		GAAGACAGTCCATCAGGAAAC	0.438000														87			45		0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52573735	52573735	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:52573735C>T	uc001jjj.3	-	9	1417	c.1229G>A	c.(1228-1230)gGa>gAa	p.G410E	A1CF_uc010qho.2_Missense_Mutation_p.G418E|A1CF_uc010qhn.2_Missense_Mutation_p.G410E|A1CF_uc009xov.3_Missense_Mutation_p.G402E|A1CF_uc001jji.3_Missense_Mutation_p.G402E|A1CF_uc001jjh.3_Missense_Mutation_p.G410E	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	410					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GACCTGGTATCCTCGACCCAG	0.493000														57			21		0	0	1	0	0
OR6K6	128371	broad.mit.edu	37	1	158725577	158725577	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:158725577G>A	uc001fsw.1	+	0	972	c.972G>A	c.(970-972)atG>atA	p.M324I		NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 6 (OR6K6), mRNA.	324					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)					ACAAGGACATGAAAGAGGCTA	0.453000														83			15		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158585182	158585182	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:158585182C>T	uc001fst.1	-	47	6811	c.6612G>A	c.(6610-6612)aaG>aaA	p.K2204K		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	2204					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)					CCTGGATCTCCTTCTGTTTTC	0.458000														100			34		0	0	1	0	0
FCAR	2204	broad.mit.edu	37	19	55386809	55386809	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:55386809C>T	uc002qhr.1	+	1	255	c.58C>T	c.(58-60)Cag>Tag	p.Q20*	FCAR_uc021vbp.1_Intron|FCAR_uc002qhq.3_Nonsense_Mutation_p.Q20*|FCAR_uc002qhs.1_Non-coding_Transcript|FCAR_uc002qht.1_5'UTR|FCAR_uc010esi.1_Intron|FCAR_uc002qhu.1_Nonsense_Mutation_p.Q20*|FCAR_uc002qhv.1_Nonsense_Mutation_p.Q20*|FCAR_uc002qhw.1_Intron|FCAR_uc002qhx.1_Intron|FCAR_uc002qhy.1_Intron|FCAR_uc002qhz.1_Intron|FCAR_uc002qia.1_Intron	NM_002000	NP_001991	P24071	FCAR_HUMAN	Homo sapiens Fc fragment of IgA, receptor for (FCAR), transcript variant 1, mRNA.	20					immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		CCAGAGGATTCAGGCACAGGA	0.453000														60			31		0	0	1	0	0
OR14J1	442191	broad.mit.edu	37	6	29275232	29275232	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:29275232G>A	uc011dln.2	+	0	766	c.766G>A	c.(766-768)Gag>Aag	p.E256K		NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily J, member 1 (OR14J1), mRNA.	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						TGCAGGCTTTGAGTTTCTCAG	0.478000														106			52		0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47593093	47593093	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:47593093C>T	uc003gxk.1	+	22	4140	c.3976C>T	c.(3976-3978)Cca>Tca	p.P1326S	ATP10D_uc003gxl.1_Missense_Mutation_p.P574S	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	1326					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						ATCCCTGTTTCCATCTCCAAT	0.443000														57			13		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76499039	76499039	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:76499039C>T	uc010dhp.2	-	31	5136	c.5011G>A	c.(5011-5013)Gaa>Aaa	p.E1671K	AK127460_uc002jvt.1_Non-coding_Transcript	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)			TCTGGGATTTCGTGCCGGAGG	0.647000														65			13		0	0	1	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92459540	92459540	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:92459540C>T	uc002bqx.2	+	1	699	c.498C>T	c.(496-498)atC>atT	p.I166I	SLCO3A1_uc002bqy.2_Silent_p.I166I|SLCO3A1_uc010boc.1_Non-coding_Transcript|SLCO3A1_uc002bqz.1_Silent_p.I108I	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 3A1 (SLCO3A1), transcript variant 1, mRNA.	166					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			CCGACCTCATCTGCCGCAACC	0.697000														15			14		0	0	1	0	0
C5orf46	389336	broad.mit.edu	37	5	147281206	147281206	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:147281206G>A	uc010jgp.3	-	1	238	c.201C>T	c.(199-201)tcC>tcT	p.S67S	C5orf46_uc003lou.3_Silent_p.S67S|C5orf46_uc003lov.4_Silent_p.S67S	NM_206966	NP_996849	Q6UWT4	CE046_HUMAN	Homo sapiens chromosome 5 open reading frame 46 (C5orf46), mRNA.	67						extracellular region				NS(1)|lung(1)|prostate(1)	3						TCCTGGACATGGAGCGGAGGA	0.473000														32			7		0	0	1	0	0
CDK1	983	broad.mit.edu	37	10	62544606	62544606	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:62544606C>T	uc001jld.3	+	2	323	c.181C>T	c.(181-183)Cca>Tca	p.P61S	CDK1_uc010qii.2_Missense_Mutation_p.P61S|CDK1_uc021prh.1_Missense_Mutation_p.P61S|CDK1_uc001jlg.3_Missense_Mutation_p.P61S|CDK1_uc001jle.3_Non-coding_Transcript	NM_001786	NP_001777	P06493	CDK1_HUMAN	Homo sapiens cyclin-dependent kinase 1 (CDK1), transcript variant 1, mRNA.	61	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|axon guidance|cell division|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|mitosis|nerve growth factor receptor signaling pathway|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein localization to kinetochore|regulation of transcription involved in G1/S phase of 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	cytosol|midbody|nucleoplasm|spindle microtubule	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity			ovary(1)	1						ACTTCGTCATCCAAATATAGT	0.338000														57			10		0	0	1	0	0
CATSPER4	378807	broad.mit.edu	37	1	26524858	26524858	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:26524858C>G	uc010oez.2	+	5	760	c.760C>G	c.(760-762)Ctc>Gtc	p.L254V	CATSPER4_uc010oey.1_Missense_Mutation_p.L76V|CATSPER4_uc009vsf.3_Non-coding_Transcript	NM_198137	NP_937770	Q7RTX7	CTSR4_HUMAN	Homo sapiens cation channel, sperm associated 4 (CATSPER4), mRNA.	254					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity	p.L254L(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		GCTGTACACCCTCTTCATCTG	0.527000														227			26		0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159653655	159653655	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:159653655G>A	uc010kjv.3	+	10	2311	c.2111G>A	c.(2110-2112)gGg>gAg	p.G704E	FNDC1_uc010kjw.1_Missense_Mutation_p.G589E	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	704	Ser-rich.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CCCCATTCAGGGGCCGCAGAG	0.682000														11			13		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7640083	7640083	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:7640083C>T	uc001qsz.3	-	7	2050	c.1922G>A	c.(1921-1923)gGa>gAa	p.G641E	CD163_uc001qta.3_Missense_Mutation_p.G641E|CD163_uc009zfw.2_Missense_Mutation_p.G674E	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	641	SRCR 6.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.K640E(1)		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						CTGACCATTTCCTTTTCCAAA	0.478000														61			14		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136594257	136594257	+	Silent	SNP	G	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:136594257G>T	uc002tuu.1	-	0	494	c.483C>A	c.(481-483)tcC>tcA	p.S161S		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	161	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)		GGTCCCCGAAGGAGTGGAAGG	0.577000														24			5		3.59834e-05	3.61616e-05	1	1	0
RNASEL	6041	broad.mit.edu	37	1	182551259	182551259	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:182551259G>A	uc009wxz.2	-	3	1958	c.1701C>T	c.(1699-1701)ttC>ttT	p.F567F	RNASEL_uc001gpk.3_Silent_p.F567F|RNASEL_uc009wya.1_3'UTR	NM_021133	NP_066956	Q05823	RN5A_HUMAN	Homo sapiens ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) (RNASEL), mRNA.	567	Protein kinase.				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|RNA binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						CCCCAGGATGGAAGAGACGAT	0.468000														87			53		0	0	1	0	0
COX4I2	84701	broad.mit.edu	37	20	30227862	30227862	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:30227862G>A	uc002wwj.1	+	2	284	c.209G>A	c.(208-210)gGa>gAa	p.G70E		NM_032609	NP_115998	Q96KJ9	COX42_HUMAN	Homo sapiens cytochrome c oxidase subunit IV isoform 2 (lung) (COX4I2), nuclear gene encoding mitochondrial protein, mRNA.	70					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)			AAGGAGAAGGGAAGCTGGACC	0.587000														21			16		0	0	1	0	0
CYP3A7	1551	broad.mit.edu	37	7	99312187	99312187	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:99312187C>T	uc003uru.3	-	7	892	c.789G>A	c.(787-789)gaG>gaA	p.E263E	ZNF498_uc003urn.3_Intron|CYP3A7_uc003urs.3_Intron|CYP3A7_uc010lgg.3_Intron	NM_000765	NP_000756	P24462	CP3A7_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 7 (CYP3A7), mRNA.	263					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					CCTTTTGTGTCTCTTTGAGGC	0.323000														55			31		0	0	1	0	0
ENTHD1	150350	broad.mit.edu	37	22	40139958	40139958	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:40139958G>A	uc003ayg.3	-	6	1801	c.1550C>T	c.(1549-1551)tCc>tTc	p.S517F		NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN	Homo sapiens ENTH domain containing 1 (ENTHD1), mRNA.	517										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					ATTTTGGGTGGAAAACTCCCC	0.408000														33			10		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10446214	10446214	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:10446214C>T	uc010coi.3	-	9	1010	c.882G>A	c.(880-882)tcG>tcA	p.S294S	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.S294S|MYH2_uc010coj.3_Silent_p.S294S	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	294	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GTTTCTTATTCGATGTAATCT	0.343000														10			5		0	0	1	0	0
CHRNA7	1139	broad.mit.edu	37	15	32450613	32450613	+	Splice_Site	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:32450613G>A	uc021sic.1	+	7	793	c.686_splice	c.e7-1	p.G229_splice	DKFZp434L187_uc001zfv.1_Intron|CHRNA7_uc010bae.2_Splice_Site|CHRNA7_uc001zft.3_Splice_Site_p.G200_splice|CHRNA7_uc010baf.3_Splice_Site_p.G19_splice|CHRNA7_uc010baj.1_Splice_Site_p.G60_splice|CHRNA7_uc010bak.3_Splice_Site_p.G115_splice	NM_001190455	NP_683709	P36544	ACHA7_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 7 (CHRNA7), transcript variant 2, mRNA.	200					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			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)	CCCTATGGAGGAATCCCCGGC	0.473000														31			8		0	0	1	0	0
COL28A1	340267	broad.mit.edu	37	7	7530240	7530240	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:7530240C>T	uc003src.1	-	11	1181	c.1064G>A	c.(1063-1065)gGa>gAa	p.G355E	COL28A1_uc011jxe.1_Missense_Mutation_p.E41K|COL28A1_uc003srd.3_5'UTR	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	355	Collagen-like 2.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TCCAGGAGCTCCTGGAGAACC	0.453000														20			5		0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100551957	100551957	+	Silent	SNP	C	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:100551957C>A	uc003uxl.1	+	0	1208	c.408C>A	c.(406-408)tcC>tcA	p.S136S	MUC3A_uc003uxk.1_Non-coding_Transcript					SubName: Full=Intestinal mucin; Flags: Fragment;											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TCATCTGGTCCTCAACACCCA	0.413000														631			140		1.02229e-66	1.04416e-66	1	1	0
KANK4	163782	broad.mit.edu	37	1	62739150	62739150	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:62739150G>A	uc001dah.4	-	2	2003	c.1626C>T	c.(1624-1626)ctC>ctT	p.L542L	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.	542										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						CCTTCCCTGGGAGATTGGAAC	0.612000														47			18		0	0	1	0	0
TMEM230	29058	broad.mit.edu	37	20	5086943	5086943	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:5086943G>A	uc002wlk.3	-	3	361	c.302C>T	c.(301-303)cCt>cTt	p.P101L	TMEM230_uc010gbi.3_Missense_Mutation_p.P38L|TMEM230_uc002wll.3_Missense_Mutation_p.P38L|TMEM230_uc002wlm.3_Missense_Mutation_p.P38L|TMEM230_uc002wln.3_Missense_Mutation_p.P38L	NM_001009923	NP_054864	Q96A57	CT030_HUMAN	Homo sapiens chromosome 20 open reading frame 30 (C20orf30), transcript variant 1, mRNA.	38						integral to membrane											GATCTTAGGAGGGGTTTTCTT	0.383000														18			11		0	0	1	0	0
HJURP	55355	broad.mit.edu	37	2	234750649	234750649	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:234750649G>A	uc002vvg.3	-	7	843	c.777C>T	c.(775-777)acC>acT	p.T259T	HJURP_uc010znd.2_Silent_p.T198T|HJURP_uc010zne.2_Silent_p.T167T	NM_018410	NP_060880	Q8NCD3	HJURP_HUMAN	Homo sapiens Holliday junction recognition protein (HJURP), mRNA.	259					CenH3-containing nucleosome assembly at centromere|cell cycle|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding	p.T259I(1)		NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		GGTCACTGATGGTCACATTGC	0.488000														48			25		0	0	1	0	0
CHRNA1	1134	broad.mit.edu	37	2	175618428	175618428	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:175618428C>T	uc002ujd.2	-	6	734	c.656G>A	c.(655-657)gGg>gAg	p.G219E	BC046497_uc002uiw.3_Intron|CHRNA1_uc002uje.2_Missense_Mutation_p.G194E|CHRNA1_uc002ujf.4_Missense_Mutation_p.G194E	NM_001039523	NP_001034612	P02708	ACHA_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 1 (muscle) (CHRNA1), transcript variant 1, mRNA.	219					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						CACCCACTCCCCGCTCTCCAT	0.587000														21			11		0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167671462	167671462	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:167671462G>A	uc010jjd.3	+	25	5531	c.5531G>A	c.(5530-5532)cGa>cAa	p.R1844Q	ODZ2_uc003lzr.4_Missense_Mutation_p.R1614Q|ODZ2_uc003lzt.4_Missense_Mutation_p.R1217Q|ODZ2_uc010jje.3_Missense_Mutation_p.R1108Q	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		GACTATGATCGAAATATTCGG	0.507000														16			5		0	0	1	0	0
SEC14L5	9717	broad.mit.edu	37	16	5053488	5053488	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:5053488G>A	uc002cye.2	+	10	1396	c.1216G>A	c.(1216-1218)Gag>Aag	p.E406K		NM_014692	NP_055507	O43304	S14L5_HUMAN	Homo sapiens SEC14-like 5 (S. cerevisiae) (SEC14L5), mRNA.	406	CRAL-TRIO.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						GCGGATGATTGAGGTGGTTGA	0.627000														58			48		0	0	1	0	0
MZF1	7593	broad.mit.edu	37	19	59073705	59073706	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:59073705_59073706GG>AA	uc002qto.3	-	5	2499_2500	c.1938_1939CC>TT	c.(1936-1941)atccac>atTTac	p.H647Y	LOC100131691_uc002qtm.3_Intron|MZF1_uc002qtn.3_Missense_Mutation_p.H647Y	NM_198055	NP_932172	P28698	MZF1_HUMAN	Homo sapiens myeloid zinc finger 1 (MZF1), transcript variant 2, mRNA.	647					viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		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;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		TCGCCCGTGTGGATGCGCTGGT	0.688000														8			5		0	0	1	0	0
OR52K1	390036	broad.mit.edu	37	11	4510542	4510542	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:4510542C>T	uc001lza.2	+	0	434	c.412C>T	c.(412-414)Ctg>Ttg	p.L138L		NM_001005171	NP_001005171	Q8NGK4	O52K1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily K, member 1 (OR52K1), mRNA.	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		CACGACGGTCCTGACTGGGTC	0.572000														31			12		0	0	1	0	0
CDR1	1038	broad.mit.edu	37	X	139865941	139865941	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:139865941C>T	uc004fbg.1	-	0	783	c.591G>A	c.(589-591)agG>agA	p.R197R	AK054921_uc004fbf.1_Non-coding_Transcript	NM_004065	NP_004056	P51861	CDR1_HUMAN	Homo sapiens cerebellar degeneration-related protein 1, 34kDa (CDR1), mRNA.	197	5 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)				TATATGTCTTCCTGAAGATCC	0.443000														31			87		0	0	1	0	0
CAV3	859	broad.mit.edu	37	3	8787362	8787362	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:8787362G>A	uc003bra.3	+	1	342	c.265G>A	c.(265-267)Ggc>Agc	p.G89S	C3orf32_uc003bqz.3_5'Flank|CAV3_uc003brb.3_Missense_Mutation_p.G89S	NM_001234	NP_001225	P56539	CAV3_HUMAN	Homo sapiens caveolin 3 (CAV3), transcript variant 2, mRNA.	89	Required for interaction with DAG1.				T-tubule organization|cell growth|elevation of cytosolic calcium ion concentration|muscle organ development|negative regulation of MAP kinase activity|negative regulation of cardiac muscle hypertrophy|negative regulation of cell size|negative regulation of sarcomere organization|positive regulation of microtubule polymerization|regulation of skeletal muscle contraction|regulation of ventricular cardiomyocyte membrane repolarization	Golgi membrane|T-tubule|caveola|dystrophin-associated glycoprotein complex|neuromuscular junction	protein C-terminus binding|protein complex binding|protein complex scaffold|sodium channel regulator activity			breast(1)|kidney(2)|large_intestine(4)|lung(3)|prostate(1)	11						CCTGCTCTGGGGCTTCCTGTT	0.587000														12			3		0	0	1	0	0
TECPR1	25851	broad.mit.edu	37	7	97863118	97863118	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:97863118G>A	uc003upg.3	-	10	1492	c.1287C>T	c.(1285-1287)ctC>ctT	p.L429L	TECPR1_uc003uph.1_Silent_p.L359L	NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 1 (TECPR1), mRNA.	429						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GTTCTGCAGGGAGAATCTGGC	0.617000														10			7		0	0	1	0	0
S100A8	6279	broad.mit.edu	37	1	153362702	153362702	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:153362702G>A	uc001fbs.3	-	2	329	c.159C>T	c.(157-159)gtC>gtT	p.V53V		NM_002964	NP_002955	P05109	S10A8_HUMAN	Homo sapiens S100 calcium binding protein A8 (S100A8), mRNA.	53	EF-hand 2.				chemotaxis	cytoplasm|cytoskeleton|plasma membrane	calcium ion binding|protein binding			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	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)			CTTTGAACCAGACGTCTGCAC	0.483000														96			26		0	0	1	0	0
ZNF808	388558	broad.mit.edu	37	19	53058510	53058510	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:53058510C>T	uc010epq.1	+	4	2518	c.2341C>T	c.(2341-2343)Cat>Tat	p.H781Y	ZNF808_uc002pzq.2_Non-coding_Transcript|ZNF808_uc010epr.2_5'Flank	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN	Homo sapiens zinc finger protein 808 (ZNF808), mRNA.	781					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		CCTTGTATACCATCGTAGACT	0.433000														76			40		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123846930	123846930	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:123846930G>A	uc001lfv.3	+	3	5275	c.4915G>A	c.(4915-4917)Gag>Aag	p.E1639K	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.E1639K|TACC2_uc010qtv.2_Missense_Mutation_p.E1639K	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	1639						microtubule organizing center|nucleus	nuclear hormone receptor binding	p.R1638K(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TCCTCAGAGGGAGGTTTTGAC	0.592000														46			9		0	0	1	0	0
TAPBPL	55080	broad.mit.edu	37	12	6570038	6570038	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:6570038G>A	uc001qog.4	+	5	1463	c.1225G>A	c.(1225-1227)Gga>Aga	p.G409R	TAPBPL_uc001qoi.1_Non-coding_Transcript	NM_018009	NP_060479	Q9BX59	TPSNR_HUMAN	Homo sapiens TAP binding protein-like (TAPBPL), mRNA.	409					antigen processing and presentation of endogenous peptide antigen via MHC class I	endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane				endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	6						AACAGCCTTGGGAGTCATCTT	0.602000														45			20		0	0	1	0	0
MEI1	150365	broad.mit.edu	37	22	42141933	42141933	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:42141933C>T	uc003baz.1	+	13	1608	c.1583C>T	c.(1582-1584)cCa>cTa	p.P528L	bK250D10.C22.8_uc003bba.1_Intron|MEI1_uc003bay.3_Missense_Mutation_p.P528L|MEI1_uc011apd.1_Non-coding_Transcript	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	Homo sapiens meiosis inhibitor 1 (MEI1), mRNA.	528							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CAGGAGAATCCATTCACAGCT	0.483000														42			7		0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38121320	38121320	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:38121320C>T	uc003atr.3	+	6	3028	c.2757C>T	c.(2755-2757)ccC>ccT	p.P919P	TRIOBP_uc003atu.3_Silent_p.P747P|TRIOBP_uc003atq.1_Silent_p.P919P|TRIOBP_uc003ats.1_Silent_p.P747P	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	919					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GTGATGGTCCCCGAACCTCTT	0.582000														114			33		0	0	1	0	0
B3GNTL1	146712	broad.mit.edu	37	17	80992912	80992912	+	Splice_Site	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:80992912G>A	uc002kgg.1	-	4	356	c.342_splice	c.e4+1	p.S114_splice	B3GNTL1_uc002kgf.1_Splice_Site	NM_001009905	NP_001009905	Q67FW5	B3GNL_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1 (B3GNTL1), mRNA.	114							transferase activity, transferring glycosyl groups			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			GTTACTTACCGAATCCAAAAA	0.323000														108			19		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140167698	140167698	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:140167698C>T	uc003lhb.2	+	0	1823	c.1823C>T	c.(1822-1824)tCc>tTc	p.S608F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lgz.3_Missense_Mutation_p.S608F	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	621	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)			GCGTGGCTGTCCTATGAACTG	0.677000														96			38		0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207639886	207639886	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:207639886C>T	uc001hfw.3	+	1	193	c.74C>T	c.(73-75)tCt>tTt	p.S25F	CR2_uc001hfv.3_Missense_Mutation_p.S25F|CR2_uc009xch.3_Missense_Mutation_p.S25F	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	25	Sushi 1.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TCTTGTGGCTCTCCTCCGCCT	0.408000														62			62		0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33538124	33538124	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:33538124C>T	uc001rll.1	-	3	1477	c.1180G>A	c.(1180-1182)Gat>Aat	p.D394N	SYT10_uc009zju.1_Missense_Mutation_p.D204N	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	394	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.M393I(2)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					CCAGTAATATCCATCGCCTTC	0.413000														43			26		0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100443867	100443867	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:100443867A>T	uc003yiv.3	+	21	3296	c.3185A>T	c.(3184-3186)aAt>aTt	p.N1062I	VPS13B_uc003yiw.3_Missense_Mutation_p.N1062I|VPS13B_uc003yiu.1_Missense_Mutation_p.N1062I|VPS13B_uc003yix.1_Missense_Mutation_p.N532I	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	1062					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ATTGTTTGGAATGCAGTGAAG	0.328000														32			9		0	0	1	0	0
TMEM63C	57156	broad.mit.edu	37	14	77705806	77705806	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:77705806C>T	uc001xtf.2	+	10	989	c.777C>T	c.(775-777)gtC>gtT	p.V259V	TMEM63C_uc010asq.1_Silent_p.V259V	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	Homo sapiens transmembrane protein 63C (TMEM63C), mRNA.	259						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		GCTACGACGTCAGGAACCTGA	0.627000														30			23		0	0	1	0	0
KIFC1	3833	broad.mit.edu	37	6	33374114	33374114	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:33374114C>T	uc003oef.4	+	7	2128	c.1678C>T	c.(1678-1680)Ccc>Tcc	p.P560S	KIFC1_uc011drf.2_Missense_Mutation_p.P552S	NM_002263	NP_002254	Q9BW19	KIFC1_HUMAN	Homo sapiens kinesin family member C1 (KIFC1), mRNA.	560	Kinesin-motor.				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						GTGTGGGGCCCCCCTCAGTCT	0.642000														271			53		0	0	1	0	0
TFE3	7030	broad.mit.edu	37	X	48896834	48896834	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:48896834G>A	uc004dmb.3	-	2	570	c.332C>T	c.(331-333)tCa>tTa	p.S111L	TFE3_uc004dmc.3_Missense_Mutation_p.S6L|TFE3_uc004dme.1_Non-coding_Transcript	NM_006521	NP_006512	P19532	TFE3_HUMAN	Homo sapiens transcription factor binding to IGHM enhancer 3 (TFE3), mRNA.	111					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						GACCCTCGATGAAGAAGATGA	0.647000			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""									5			10		0	0	1	0	0
FOXN1	8456	broad.mit.edu	37	17	26861448	26861448	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:26861448G>A	uc010crm.3	+	6	1225	c.1027G>A	c.(1027-1029)Ggc>Agc	p.G343S	FOXN1_uc002hbj.3_Missense_Mutation_p.G343S	NM_003593	NP_003584	O15353	FOXN1_HUMAN	Homo sapiens forkhead box N1 (FOXN1), mRNA.	343					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)					CTCCCGCAAGGGCTGCCTGTG	0.537000														46			7		0	0	1	0	0
VCAM1	7412	broad.mit.edu	37	1	101190335	101190335	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:101190335A>T	uc001dti.3	+	3	1038	c.817A>T	c.(817-819)Aat>Tat	p.N273Y	VCAM1_uc010ouj.2_Missense_Mutation_p.N211Y|VCAM1_uc001dtj.3_Missense_Mutation_p.N273Y	NM_001078	NP_001069	P19320	VCAM1_HUMAN	Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA.	273	Ig-like C2-type 3.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	CCTTTCTGGAAATGCAACTCT	0.413000														21			13		0	0	1	0	0
CCDC70	83446	broad.mit.edu	37	13	52439989	52439989	+	RNA	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr13:52439989G>A	uc010tgr.1	-	0		c.231C>T			CCDC70_uc001vfu.4_Missense_Mutation_p.E159K|CCDC70_uc021rjv.1_Missense_Mutation_p.E159K			Q6NSX1	CCD70_HUMAN	Synthetic construct Homo sapiens gateway clone IMAGE:100022601 3' read CCDC70 mRNA.							extracellular region|plasma membrane				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		CCTGTGGGAGGAAGAAAAGGC	0.547000														59			31		0	0	1	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175703	143175703	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:143175703C>T	uc003wdc.1	+	0	738	c.738C>T	c.(736-738)tcC>tcT	p.S246S	LOC285965_uc003wda.3_Intron	NM_176883	NP_795364	P59536	T2R41_HUMAN	Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA.	246					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					ATGCTCTGTCCTTTCTGTCCC	0.507000														77			15		0	0	1	0	0
LRRC55	219527	broad.mit.edu	37	11	56949796	56949796	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:56949796C>T	uc001njl.2	+	0	576	c.429C>T	c.(427-429)tcC>tcT	p.S143S		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.	113						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						ACAACAACTCCTTAATGGAGC	0.582000														14			6		0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907323	164907323	+	Silent	SNP	A	C	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:164907323A>C	uc003fej.4	-	1	1740	c.1296T>G	c.(1294-1296)tcT>tcG	p.S432S	SLITRK3_uc003fek.3_Silent_p.S432S|SLITRK3_uc021xgy.1_Silent_p.S432S	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	432						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GATCCAAGGAAGAAAAATTCC	0.403000										HNSCC(40;0.11)				55			15		0	0	1	0	0
MEGF6	1953	broad.mit.edu	37	1	3411056	3411056	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:3411056G>A	uc001akl.3	-	31	4235	c.4008C>T	c.(4006-4008)ccC>ccT	p.P1336P	MEGF6_uc001akk.3_Silent_p.P1101P	NM_001409	NP_001400	O75095	MEGF6_HUMAN	Homo sapiens multiple EGF-like-domains 6 (MEGF6), mRNA.	1336						extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		AGCGCCCAGGGGGACAGGCTG	0.706000														14			6		0	0	1	0	0
ABL1	25	broad.mit.edu	37	9	133750428	133750428	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:133750428C>T	uc004bzw.3	+	6	1262	c.1259C>T	c.(1258-1260)tCc>tTc	p.S420F	ABL1_uc004bzv.3_Missense_Mutation_p.S439F	NM_005157	NP_005148	P00519	ABL1_HUMAN	Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA.	420	Protein kinase.				DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|SH3 domain binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding	p.K419E(1)|p.?(1)		breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	TCCATCAAGTCCGACGTCTGG	0.527000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""									32			8		0	0	1	0	0
RALGDS	5900	broad.mit.edu	37	9	136031458	136031458	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:136031458G>A	uc011mcw.2	-	3	450	c.169C>T	c.(169-171)Cac>Tac	p.H57Y	RALGDS_uc010nab.3_Intron|RALGDS_uc011mcx.2_Intron|RALGDS_uc004ccw.3_Intron|RALGDS_uc010nac.1_Intron|RALGDS_uc004ccy.1_Intron	NM_001042368	NP_001035827	Q12967	GNDS_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator (RALGDS), transcript variant 2, mRNA.	0					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)		TGTTGCTGGTGGCAGAGGCAA	0.582000			T	CIITA	"""PMBL, Hodgkin Lymphona, """									18			7		0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49754407	49754407	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:49754407G>A	uc003ozu.3	-	0	647	c.494C>T	c.(493-495)gCt>gTt	p.A165V		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	165					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)					AGTGCCAAAAGCATCATTGAC	0.468000														58			18		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55541928	55541928	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:55541928C>T	uc003xsd.1	+	3	5634	c.5486C>T	c.(5485-5487)cCt>cTt	p.P1829L	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1829					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)			GACTCAGAACCTTTTCATGAG	0.428000														22			4		0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118525493	118525493	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:118525493C>A	uc010jcl.1	+	28	7407	c.7226C>A	c.(7225-7227)tCc>tAc	p.S2409Y	DMXL1_uc003ksd.2_Missense_Mutation_p.S2409Y|DMXL1_uc021ycw.1_Missense_Mutation_p.S2236Y	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	2409										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CTGACCCCTTCCTCGGCACCA	0.428000														84			30		1.45844e-13	1.48094e-13	1	1	0
KIAA0586	9786	broad.mit.edu	37	14	58953768	58953768	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:58953768C>T	uc010trr.2	+	23	3591	c.3347C>T	c.(3346-3348)cCt>cTt	p.P1116L	KIAA0586_uc001xdu.4_Missense_Mutation_p.P1048L|KIAA0586_uc010trs.2_Missense_Mutation_p.P978L|KIAA0586_uc001xdt.4_Missense_Mutation_p.P1019L|KIAA0586_uc001xdv.4_Missense_Mutation_p.P987L|KIAA0586_uc010trt.2_Missense_Mutation_p.P923L|KIAA0586_uc010tru.1_Missense_Mutation_p.P923L	NM_001244189	NP_001231118	E9PGW8	E9PGW8_HUMAN	Homo sapiens KIAA0586 (KIAA0586), transcript variant 1, mRNA.	987										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCTACGCCTCCTTGCTCACCT	0.413000														19			37		0	0	1	0	0
NT5DC2	64943	broad.mit.edu	37	3	52562081	52562081	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:52562081G>A	uc003den.3	-	6	820	c.780C>T	c.(778-780)atC>atT	p.I260I	NT5DC2_uc003dem.3_Silent_p.I93I|NT5DC2_uc010hmi.3_Silent_p.I235I|NT5DC2_uc010hmj.3_Silent_p.I39I|NT5DC2_uc003deo.3_Silent_p.I223I	NM_001134231	NP_001127703	Q9H857	NT5D2_HUMAN	Homo sapiens 5'-nucleotidase domain containing 2 (NT5DC2), transcript variant 1, mRNA.	223							hydrolase activity|metal ion binding			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		GCACGTCTCGGATGGCGTCCT	0.632000														19			4		0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156823912	156823912	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:156823912C>T	uc010pht.2	-	1	568	c.269G>A	c.(268-270)gGa>gAa	p.G90E	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.2_Missense_Mutation_p.G90E	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	90					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCTCTCCAGTCCGTAGACACG	0.617000														37			8		0	0	1	0	0
ADRA2B	151	broad.mit.edu	37	2	96780866	96780866	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:96780866G>A	uc021vlh.1	-	0	1023	c.1023C>T	c.(1021-1023)ctC>ctT	p.L341L		NM_000682	NP_000673	P18089	ADA2B_HUMAN	Homo sapiens adrenergic, alpha-2B-, receptor (ADRA2B), mRNA.	344					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	CCCTGCCCAGGAGCACCTGGC	0.692000														8			3		0	0	1	0	0
OLFML3	56944	broad.mit.edu	37	1	114523943	114523943	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:114523943C>T	uc001eer.1	+	2	882	c.773C>T	c.(772-774)cCa>cTa	p.P258L	OLFML3_uc001ees.1_Missense_Mutation_p.P238L|OLFML3_uc001eet.1_Missense_Mutation_p.P114L	NM_020190	NP_064575	Q9NRN5	OLFL3_HUMAN	Homo sapiens olfactomedin-like 3 (OLFML3), mRNA.	258	Olfactomedin-like.				multicellular organismal development	extracellular region				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCAGTATTCCCAGCAGAGGGG	0.567000														25			22		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106667749	106667749	+	RNA	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:106667749C>T	uc021ser.1	-	1314		c.27178G>A								Parts of antibodies, mostly variable regions.																		CCAGCCCCTTCCCTGGAGCTT	0.562000														85			41		0	0	1	0	0
GLYATL2	219970	broad.mit.edu	37	11	58604556	58604556	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:58604556T>A	uc001nnd.4	-	4	539	c.408A>T	c.(406-408)gaA>gaT	p.E136D	GLYATL2_uc009ymq.3_Missense_Mutation_p.E136D	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN	Homo sapiens glycine-N-acyltransferase-like 2 (GLYATL2), mRNA.	136						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)	TCTTTGGTAATTCCGGTATAA	0.388000														62			13		0	0	1	0	0
TCOF1	6949	broad.mit.edu	37	5	149772279	149772279	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:149772279C>T	uc003lry.3	+	21	3634	c.3526C>T	c.(3526-3528)Ccc>Tcc	p.P1176S	TCOF1_uc003lrz.3_Missense_Mutation_p.P1138S|TCOF1_uc011dch.2_Missense_Mutation_p.P1139S|TCOF1_uc003lrx.3_Missense_Mutation_p.P1100S|TCOF1_uc003lsa.3_Missense_Mutation_p.P1099S	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	Homo sapiens Treacher Collins-Franceschetti syndrome 1 (TCOF1), transcript variant 4, mRNA.	1176			P -> R (in dbSNP:rs1136103).		skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGTCCCACCCCCTCCAGGAC	0.637000														34			5		0	0	1	0	0
KIF14	9928	broad.mit.edu	37	1	200528536	200528536	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:200528536C>T	uc010ppk.1	-	26	4714	c.4275G>A	c.(4273-4275)atG>atA	p.M1425I	KIF14_uc010ppj.1_Missense_Mutation_p.M934I	NM_014875	NP_055690	Q15058	KIF14_HUMAN	Homo sapiens kinesin family member 14 (KIF14), mRNA.	1425	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						ATAAAATCTTCATTCCTAAGC	0.299000														43			27		0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48680522	48680522	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:48680522G>A	uc002irk.1	+	20	4503	c.4131G>A	c.(4129-4131)ctG>ctA	p.L1377L	CACNA1G_uc002iri.1_Silent_p.L1377L|CACNA1G_uc002irj.1_Silent_p.L1354L|CACNA1G_uc002irl.1_Silent_p.L1354L|CACNA1G_uc002irm.1_Silent_p.L1354L|CACNA1G_uc002irn.1_Silent_p.L1354L|CACNA1G_uc002iro.1_Silent_p.L1354L|CACNA1G_uc002irp.1_Silent_p.L1377L|CACNA1G_uc002irq.1_Silent_p.L1354L|CACNA1G_uc002irr.1_Silent_p.L1377L|CACNA1G_uc002irs.1_Silent_p.L1377L|CACNA1G_uc002irt.1_Silent_p.L1377L|CACNA1G_uc002iru.1_Silent_p.L1354L|CACNA1G_uc002irv.1_Silent_p.L1377L|CACNA1G_uc002irw.1_Silent_p.L1354L|CACNA1G_uc002irx.1_Silent_p.L1290L|CACNA1G_uc002iry.1_Silent_p.L1290L|CACNA1G_uc002isg.1_Silent_p.L1290L|CACNA1G_uc002ish.1_Silent_p.L1290L|CACNA1G_uc002isi.1_Silent_p.L1267L|CACNA1G_uc002irz.1_Silent_p.L1290L|CACNA1G_uc002isa.1_Silent_p.L1290L|CACNA1G_uc002isd.1_Silent_p.L1290L|CACNA1G_uc002isb.1_Silent_p.L1290L|CACNA1G_uc002isc.1_Silent_p.L1290L|CACNA1G_uc002ise.1_Silent_p.L1290L|CACNA1G_uc002isf.1_Silent_p.L1290L|CACNA1G_uc002isj.3_Silent_p.L101L	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	1377					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)	TGGGCATGCTGAGGGTGCTGC	0.642000														49			16		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55533948	55533948	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:55533948C>T	uc003xsd.1	+	1	570	c.422C>T	c.(421-423)cCc>cTc	p.P141L	RP1_uc011ldy.1_Missense_Mutation_p.P141L	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	141					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)			CCGCCCCACCCCGTAGCCGTC	0.701000														83			24		0	0	1	0	0
DCP1B	196513	broad.mit.edu	37	12	2061788	2061788	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:2061788G>A	uc001qjx.1	-	6	1398	c.1318C>T	c.(1318-1320)Cag>Tag	p.Q440*	DCP1B_uc010sdy.1_Nonsense_Mutation_p.Q338*	NM_152640	NP_689853	Q8IZD4	DCP1B_HUMAN	Homo sapiens DCP1 decapping enzyme homolog B (S. cerevisiae) (DCP1B), mRNA.	440					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			CTGCCAGTCTGACTACCAGAG	0.522000														60			38		0	0	1	0	0
NAV1	89796	broad.mit.edu	37	1	201778349	201778349	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:201778349G>A	uc021phi.1	+	20	4612	c.4265G>A	c.(4264-4266)cGg>cAg	p.R1422Q	NAV1_uc001gwu.3_Missense_Mutation_p.R1419Q|NAV1_uc001gwx.3_Missense_Mutation_p.R1028Q	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA.	1422					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GTGACCCTCCGGGTGGTGGTG	0.512000														122			55		0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66067341	66067341	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:66067341C>T	uc001dci.3	+	8	1650	c.1261C>T	c.(1261-1263)Cgc>Tgc	p.R421C	LEPR_uc001dcg.3_Missense_Mutation_p.R421C|LEPR_uc001dch.3_Missense_Mutation_p.R421C|LEPR_uc009waq.3_Intron|LEPR_uc021ool.1_Missense_Mutation_p.R421C|LEPR_uc001dcj.3_Missense_Mutation_p.R421C|LEPR_uc001dck.3_Missense_Mutation_p.R421C	NM_002303	NP_002294	P48357	LEPR_HUMAN	Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA.	421	Ig-like.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	p.H420Y(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		ATGCCATCATCGCTATGCTGA	0.358000														30			8		0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117826345	117826345	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:117826345C>T	uc004bjj.4	-	11	3902	c.3490G>A	c.(3490-3492)Gaa>Aaa	p.E1164K	TNC_uc010mvf.3_Missense_Mutation_p.E1164K|TNC_uc022bmj.1_Intron	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	1164	Fibronectin type-III 7.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	p.G1163V(1)		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						TTGGGAGTTTCCCCTGGAGAA	0.443000														55			60		0	0	1	0	0
OR14J1	442191	broad.mit.edu	37	6	29275257	29275257	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:29275257C>T	uc011dln.2	+	0	791	c.791C>T	c.(790-792)tCc>tTc	p.S264F		NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily J, member 1 (OR14J1), mRNA.	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						CCTTCTGATTCCTCATCGACT	0.468000														94			54		0	0	1	0	0
AK125237	0	broad.mit.edu	37	10	27551988	27551988	+	RNA	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:27551988G>A	uc001itt.1	+	1		c.244G>A								Homo sapiens cDNA FLJ43247 fis, clone HEART2000611.																		TGGAATCCTCGAAATCACCCC	0.448000														7			5		0	0	1	0	0
SIGLEC14	100049587	broad.mit.edu	37	19	52146913	52146913	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:52146913G>A	uc002pxf.4	-	5	1145	c.1025C>T	c.(1024-1026)tCc>tTc	p.S342F		NM_001098612	NP_001092082	Q08ET2	SIG14_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 14 (SIGLEC14), mRNA.	342					cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		ACATATGCAGGAAGAGGAGCT	0.592000														9			23		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54307319	54307319	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:54307319C>T	uc021smr.1	+	0	2219	c.2219C>T	c.(2218-2220)tCt>tTt	p.S740F	UNC13C_uc021sms.1_Missense_Mutation_p.S740F	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	740					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.S740S(1)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CAATATGATTCTTATCAGGGA	0.413000														15			3		0	0	1	0	0
UPB1	51733	broad.mit.edu	37	22	24919696	24919696	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:24919696C>T	uc003aaf.3	+	8	2321	c.1026C>T	c.(1024-1026)ctC>ctT	p.L342L	UPB1_uc003aae.3_Silent_p.L274L|UPB1_uc021wnh.1_Non-coding_Transcript	NM_016327	NP_057411	Q9UBR1	BUP1_HUMAN	Homo sapiens ureidopropionase, beta (UPB1), mRNA.	342	CN hydrolase.				pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					TTGCTAAGCTCGACCTAAACC	0.572000														69			19		0	0	1	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15586733	15586733	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:15586733C>T	uc002nbg.3	-	1	881	c.748G>A	c.(748-750)Gac>Aac	p.D250N	PGLYRP2_uc002nbf.4_Missense_Mutation_p.D250N	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	Homo sapiens peptidoglycan recognition protein 2 (PGLYRP2), mRNA.	250					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GAGAGCTGGTCCCAGCAGCCC	0.617000														16			9		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24922455	24922456	+	Missense_Mutation	DNP	GG	AA	AA	rs142027848		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:24922455_24922456GG>AA	uc001ywo.3	+	0	1915_1916	c.1441_1442GG>AA	c.(1441-1443)gga>AAa	p.G481K		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	481	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)		TAATGAGAAAGGAGGCTCTTAT	0.500000														227			33		0	0	1	0	0
GPR133	283383	broad.mit.edu	37	12	131471681	131471681	+	Missense_Mutation	SNP	G	A	A	rs148148477		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:131471681G>A	uc010tbm.2	+	6	1187	c.628G>A	c.(628-630)Gag>Aag	p.E210K	GPR133_uc001uit.4_Missense_Mutation_p.E178K	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.	178					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.E178K(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GAAATCCAAGGAGGGCCTGAA	0.512000														44			19		0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135201838	135201838	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:135201838A>T	uc004cbk.3	-	9	5330	c.5147T>A	c.(5146-5148)tTt>tAt	p.F1716Y	SETX_uc004cbj.3_Missense_Mutation_p.F1335Y|SETX_uc010mzt.3_Missense_Mutation_p.F1335Y	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	Homo sapiens senataxin (SETX), mRNA.	1716					RNA processing|cell death|double-strand break repair	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ACACTGACCAAAGTTCAAAAA	0.393000														27			9		0	0	1	0	0
OSBP2	23762	broad.mit.edu	37	22	31289498	31289498	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:31289498G>A	uc003aiy.1	+	9	2143	c.2039G>A	c.(2038-2040)aGg>aAg	p.R680K	OSBP2_uc011ala.1_Missense_Mutation_p.R514K|OSBP2_uc010gwc.1_Missense_Mutation_p.R507K|OSBP2_uc011alb.1_Missense_Mutation_p.R631K|OSBP2_uc003aiz.1_Missense_Mutation_p.R679K|OSBP2_uc003aja.1_Missense_Mutation_p.R313K|OSBP2_uc011alc.2_Missense_Mutation_p.R422K|OSBP2_uc011ald.1_Missense_Mutation_p.R224K|OSBP2_uc010gwd.1_Missense_Mutation_p.R225K	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	Homo sapiens oxysterol binding protein 2 (OSBP2), transcript variant 1, mRNA.	680					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						TACGTGTGGAGGAAGAGCACC	0.632000														46			19		0	0	1	0	0
KRT73	319101	broad.mit.edu	37	12	53010066	53010066	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:53010066G>A	uc001sas.3	-	1	581	c.546C>T	c.(544-546)atC>atT	p.I182I		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	Homo sapiens keratin 73 (KRT73), mRNA.	182	Linker 1.|Rod.					keratin filament	structural molecule activity	p.P181H(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGCCCTCAAGGATGGGCTCCA	0.607000														101			23		0	0	1	0	0
PARP9	83666	broad.mit.edu	37	3	122277240	122277240	+	Silent	SNP	A	G	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:122277240A>G	uc010hri.3	-	2	235	c.90T>C	c.(88-90)ttT>ttC	p.F30F	PARP9_uc003eff.4_Intron|PARP9_uc011bjs.2_Intron|PARP9_uc003efg.3_Intron|PARP9_uc003efi.3_Intron|PARP9_uc003efh.3_Silent_p.F30F|PARP9_uc003efj.2_Intron	NM_001146102	NP_113646	Q8IXQ6	PARP9_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 9 (PARP9), transcript variant 2, mRNA.	30					cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		AGATCTGAGCAAAGACTTTCT	0.493000														40			13		0	0	1	0	0
EPS8L3	79574	broad.mit.edu	37	1	110301182	110301182	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:110301182G>A	uc001dyr.2	-	6	790	c.565C>T	c.(565-567)Cct>Tct	p.P189S	EPS8L3_uc001dys.2_Missense_Mutation_p.P189S|EPS8L3_uc001dyq.2_Missense_Mutation_p.P190S|EPS8L3_uc009wfm.2_Missense_Mutation_p.P156S|EPS8L3_uc009wfn.2_Missense_Mutation_p.P156S|EPS8L3_uc009wfo.2_Missense_Mutation_p.P136S	NM_133181	NP_573444	Q8TE67	ES8L3_HUMAN	Homo sapiens EPS8-like 3 (EPS8L3), transcript variant 2, mRNA.	189	Pro-rich.					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)		TGTTCTGGAGGGATCCCCGGC	0.582000														63			16		0	0	1	0	0
BPIFC	254240	broad.mit.edu	37	22	32828438	32828438	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:32828438G>A	uc003amn.2	-	9	1071	c.1071C>T	c.(1069-1071)acC>acT	p.T357T	BPIFC_uc010gwo.2_Intron|BPIFC_uc011amb.1_Silent_p.T81T	NM_174932	NP_777592	Q8NFQ6	BPIL2_HUMAN	Homo sapiens BPI fold containing family C (BPIFC), mRNA.	357						extracellular region	lipopolysaccharide binding|phospholipid binding										GGATGTCCAGGGTGAAATTGC	0.512000														52			13		0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46830690	46830690	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:46830690G>A	uc003oyo.3	-	14	2423	c.2134C>T	c.(2134-2136)Cag>Tag	p.Q712*	GPR116_uc011dwj.1_Nonsense_Mutation_p.Q267*|GPR116_uc011dwk.1_Nonsense_Mutation_p.Q141*|GPR116_uc003oyp.3_Nonsense_Mutation_p.Q570*|GPR116_uc003oyq.3_Nonsense_Mutation_p.Q712*|GPR116_uc010jzi.1_Nonsense_Mutation_p.Q384*	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	712					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TCCTCCCACTGGGAGCCTACA	0.527000														107			34		0	0	1	0	0
OR52N1	79473	broad.mit.edu	37	11	5809942	5809942	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:5809942G>A	uc010qzo.2	-	0	105	c.105C>T	c.(103-105)acC>acT	p.T35T	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001001913	NP_001001913	Q8NH53	O52N1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 1 (OR52N1), mRNA.	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		TGCTGTACATGGTACACAGTG	0.453000														23			8		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858153	9858153	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:9858153T>G	uc010uym.2	-	13	3558	c.3248A>C	c.(3247-3249)aAg>aCg	p.K1083T	GRIN2A_uc002czo.4_Missense_Mutation_p.K1083T|GRIN2A_uc010uyn.2_Missense_Mutation_p.K926T|GRIN2A_uc002czr.4_Missense_Mutation_p.K1083T	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1083					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AAAGTTGTCCTTGGTTTTGTG	0.493000														83			30		0	0	1	0	0
TXLNB	167838	broad.mit.edu	37	6	139564373	139564373	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:139564373C>T	uc021zfy.1	-	9	1510	c.1345G>A	c.(1345-1347)Gaa>Aaa	p.E449K		NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN	Homo sapiens taxilin beta (TXLNB), mRNA.	449						cytoplasm		p.Q448K(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		TTTCTCTCTTCTTGTAAAGCA	0.433000														14			9		0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	37298869	37298869	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:37298869G>A	uc022abv.1	-	5	1040	c.330C>T	c.(328-330)ctC>ctT	p.L110L	ELMO1_uc011kbc.2_Silent_p.L14L|ELMO1_uc003tfk.2_Silent_p.L110L|ELMO1_uc010kxg.2_Silent_p.L110L	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	110					Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	p.S109_L110>RI(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						CATCCCGGGAGAGGCTGGCCA	0.547000														29			17		0	0	1	0	0
PARM1	25849	broad.mit.edu	37	4	75937858	75937858	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:75937858G>A	uc003hih.2	+	1	520	c.267G>A	c.(265-267)gaG>gaA	p.E89E		NM_015393	NP_056208	Q6UWI2	PARM1_HUMAN	Homo sapiens prostate androgen-regulated mucin-like protein 1 (PARM1), mRNA.	89					positive regulation of telomerase activity	Golgi membrane|early endosome|endosome membrane|integral to membrane|late endosome|plasma membrane				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						GAGAAGAGGAGATCACCAGCC	0.522000														65			15		0	0	1	0	0
PDCD11	22984	broad.mit.edu	37	10	105184791	105184791	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:105184791C>T	uc001kwy.1	+	19	2901	c.2814C>T	c.(2812-2814)tcC>tcT	p.S938S		NM_014976	NP_055791	Q14690	RRP5_HUMAN	Homo sapiens programmed cell death 11 (PDCD11), mRNA.	938					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TGGAGAAGTCCTTTGCCATTG	0.537000														50			16		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54630614	54630614	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:54630614G>A	uc021smr.1	+	14	4634	c.4634G>A	c.(4633-4635)aGg>aAg	p.R1545K	UNC13C_uc021sms.1_Missense_Mutation_p.R1547K|UNC13C_uc002acl.3_Missense_Mutation_p.R377K	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1547					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GACTGTGTAAGGGCTTGCCTG	0.423000														72			17		0	0	1	0	0
NR3C2	4306	broad.mit.edu	37	4	149075789	149075789	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:149075789C>T	uc003ilj.4	-	4	2641	c.2278G>A	c.(2278-2280)Gat>Aat	p.D760N	NR3C2_uc003ilk.4_Intron|NR3C2_uc010iph.3_Intron	NM_000901	NP_000892	P08235	MCR_HUMAN	Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA.	760	Steroid-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	TCGGCTGTATCTGGTTTTGAG	0.493000														53			30		0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114274757	114274757	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:114274757G>A	uc003ibe.4	+	37	5083	c.4983G>A	c.(4981-4983)aaG>aaA	p.K1661K	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Silent_p.K1676K	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	1628					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			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)		TTCAAGATAAGGCAGGGAAGA	0.478000														38			12		0	0	1	0	0
DENND3	22898	broad.mit.edu	37	8	142185496	142185496	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:142185496C>T	uc003yvy.3	+	13	2511	c.2233C>T	c.(2233-2235)Ctg>Ttg	p.L745L	DENND3_uc010mep.3_Silent_p.L706L|DENND3_uc003yvz.1_Silent_p.L429L	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.	745										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CCAGAAGCGCCTGTTCCTCCT	0.532000											OREG0019025	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		55			16		0	0	1	0	0
THAP1	55145	broad.mit.edu	37	8	42693393	42693393	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:42693393T>A	uc003xpk.3	-	2	591	c.354A>T	c.(352-354)ttA>ttT	p.L118F	THAP1_uc003xpl.3_Missense_Mutation_p.Y53F	NM_018105	NP_060575	Q9NVV9	THAP1_HUMAN	Homo sapiens THAP domain containing, apoptosis associated protein 1 (THAP1), transcript variant 1, mRNA.	118					cell cycle|endothelial cell proliferation|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	sequence-specific DNA binding|zinc ion binding			NS(1)|lung(4)|prostate(1)|skin(1)	7	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Acute lymphoblastic leukemia(644;0.000299)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0377)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GCGGCATTAGTAATCCAATAG	0.463000														119			32		0	0	1	0	0
RAD50	10111	broad.mit.edu	37	5	131915751	131915751	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:131915751C>T	uc003kxi.3	+	4	1150	c.749C>T	c.(748-750)cCa>cTa	p.P250L	RAD50_uc003kxg.1_Missense_Mutation_p.P151L|RAD50_uc003kxh.3_Missense_Mutation_p.P111L	NM_005732	NP_005723	Q92878	RAD50_HUMAN	Homo sapiens RAD50 homolog (S. cerevisiae) (RAD50), mRNA.	250					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GAACTTGATCCATTGAAGGTA	0.318000								Homologous recombination						30			15		0	0	1	0	0
PTK7	5754	broad.mit.edu	37	6	43128550	43128550	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:43128550C>T	uc011dve.1	+	19	3210	c.3168C>T	c.(3166-3168)ccC>ccT	p.P1056P	PTK7_uc003oub.1_Silent_p.P1048P|PTK7_uc003ouc.1_Silent_p.P992P|PTK7_uc003oud.1_Silent_p.P1008P|PTK7_uc003oue.1_Silent_p.P918P|PTK7_uc003ouf.1_Non-coding_Transcript|PTK7_uc003oug.1_Non-coding_Transcript|PTK7_uc010jyj.1_Silent_p.P374P|PTK7_uc003ouh.1_3'UTR	NM_002821	NP_002812	Q13308	PTK7_HUMAN	Homo sapiens PTK7 protein tyrosine kinase 7 (PTK7), transcript variant PTK7-1, mRNA.	1048	Interaction with CTNNB1.|Protein kinase; inactive.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CCCTCAGCCCCAAGGACCGGC	0.647000														49			20		0	0	1	0	0
CRKL	1399	broad.mit.edu	37	22	21288339	21288339	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:21288339C>T	uc002ztf.2	+	1	1093	c.584C>T	c.(583-585)tCc>tTc	p.S195F		NM_005207	NP_005198	P46109	CRKL_HUMAN	Homo sapiens v-crk sarcoma virus CT10 oncogene homolog (avian)-like (CRKL), mRNA.	195					JNK cascade|Ras protein signal transduction	cytosol	SH3/SH2 adaptor activity|protein tyrosine kinase activity|signal transducer activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)	14	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)			AATAGGAATTCCAACAGTTAT	0.522000														59			24		0	0	1	0	0
DIRAS2	54769	broad.mit.edu	37	9	93375576	93375576	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:93375576G>A	uc022bjs.1	-	0	534	c.534C>T	c.(532-534)atC>atT	p.I178I	DIRAS2_uc004aqx.1_Silent_p.I178I	NM_017594	NP_060064	Q96HU8	DIRA2_HUMAN	Homo sapiens DIRAS family, GTP-binding RAS-like 2 (DIRAS2), mRNA.	178					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity	p.I178I(2)|p.I178V(1)		kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						TTTTCCCGTCGATCTGGAGAC	0.547000														25			41		0	0	1	0	0
SMC1B	27127	broad.mit.edu	37	22	45758822	45758822	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:45758822G>A	uc003bgc.3	-	15	2557	c.2505C>T	c.(2503-2505)atC>atT	p.I835I	SMC1B_uc003bgd.3_Silent_p.I835I	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	Homo sapiens structural maintenance of chromosomes 1B (SMC1B), mRNA.	835					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)		TTAATGTGTTGATCTTATTCA	0.313000														41			16		0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63417184	63417184	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:63417184C>T	uc001xfx.3	-	6	1087	c.1036G>A	c.(1036-1038)Gca>Aca	p.A346T	KCNH5_uc001xfy.3_Missense_Mutation_p.A346T|KCNH5_uc001xfz.1_Missense_Mutation_p.A288T|KCNH5_uc001xga.3_Missense_Mutation_p.A288T	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	346					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		AGGACTGCTGCTCCATATTCT	0.512000														15			48		0	0	1	0	0
VSTM4	196740	broad.mit.edu	37	10	50315735	50315735	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:50315735C>T	uc001jhf.2	-	1	390	c.361G>A	c.(361-363)Gat>Aat	p.D121N	VSTM4_uc001jhh.2_Missense_Mutation_p.D121N	NM_001031746	NP_001026916	Q8IW00	CJ072_HUMAN	Homo sapiens V-set and transmembrane domain containing 4 (VSTM4), transcript variant 1, mRNA.	121	Ig-like.					integral to membrane|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						TGCCCTTGATCGGAGGGCTGC	0.617000														52			39		0	0	1	0	0
RNF103	7844	broad.mit.edu	37	2	86832295	86832295	+	Silent	SNP	A	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:86832295A>T	uc002srn.3	-	3	1720	c.729T>A	c.(727-729)ctT>ctA	p.L243L	RNF103_uc010ytl.2_Intron|RNF103_uc002srm.3_Silent_p.L104L|RNF103_uc021vkg.1_Silent_p.L239L|BC066991_uc002sro.3_Intron	NM_005667	NP_005658	O00237	RN103_HUMAN	Homo sapiens ring finger protein 103 (RNF103), transcript variant 1, mRNA.	243					ER-associated protein catabolic process|central nervous system development	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						GGGGCTGGTCAAGGTTTGCAA	0.338000														28			9		0	0	1	0	0
COBLL1	22837	broad.mit.edu	37	2	165551061	165551061	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:165551061G>A	uc002ucp.3	-	11	3177	c.2955C>T	c.(2953-2955)tcC>tcT	p.S985S	COBLL1_uc002ucq.3_Silent_p.S947S|COBLL1_uc010zcw.2_Silent_p.S1052S|COBLL1_uc010zcx.2_Silent_p.S993S|COBLL1_uc002ucn.3_Silent_p.S413S|COBLL1_uc002uco.3_Silent_p.S716S	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	Homo sapiens COBL-like 1 (COBLL1), mRNA.	1023										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TGGGAGGAGGGGAGGCTTCAG	0.463000														26			11		0	0	1	0	0
PDE6B	5158	broad.mit.edu	37	4	657980	657980	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:657980C>T	uc003gap.3	+	16	2152	c.2099C>T	c.(2098-2100)tCc>tTc	p.S700F	PDE6B_uc003gao.4_Missense_Mutation_p.S700F|PDE6B_uc011buy.2_Missense_Mutation_p.S421F|PDE6B_uc011buz.2_Missense_Mutation_p.S132F	NM_000283	NP_001138764	P35913	PDE6B_HUMAN	Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.	700					GMP metabolic process|cytosolic calcium ion homeostasis|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						GAGTACCTGTCCCTGGAGACG	0.607000														67			17		0	0	1	0	0
GDF5OS	554250	broad.mit.edu	37	20	34022160	34022160	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:34022160C>T	uc002xcj.3	+	1	646	c.571C>T	c.(571-573)Ccg>Tcg	p.P191S	GDF5_uc010gfc.1_Silent_p.R351R|GDF5_uc002xck.1_Silent_p.R351R					Homo sapiens growth differentiation factor 5 opposite strand, mRNA (cDNA clone MGC:99835 IMAGE:6650156), complete cds.											cervix(1)|endometrium(4)|lung(4)	9						AGAACAGGTCCCGTTTCTTGG	0.642000														87			68		0	0	1	0	0
SLC20A2	6575	broad.mit.edu	37	8	42302195	42302195	+	Silent	SNP	G	A	A	rs149457553		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:42302195G>A	uc003xpe.3	-	5	1068	c.699C>T	c.(697-699)ttC>ttT	p.F233F	SLC20A2_uc010lxl.3_Silent_p.F233F|SLC20A2_uc010lxm.3_Silent_p.F233F|SLC20A2_uc011lcu.2_Silent_p.F35F	NM_006749	NP_006740	Q08357	S20A2_HUMAN	Homo sapiens solute carrier family 20 (phosphate transporter), member 2 (SLC20A2), mRNA.	233					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)			ACGGACACACGAAGAGCCACA	0.488000														45			15		0	0	1	0	0
ANGPT1	284	broad.mit.edu	37	8	108509775	108509775	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:108509775G>A	uc003ymn.3	-	0	480	c.12C>T	c.(10-12)ttC>ttT	p.F4F	ANGPT1_uc003ymo.3_Silent_p.F4F	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	4					Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			CAAAGGAAAGGAAAACTGTCA	0.458000														14			10		0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161012087	161012087	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:161012087G>A	uc003qtl.3	-	23	3796	c.3676C>T	c.(3676-3678)Cct>Tct	p.P1226S		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3734	Kringle 11.				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			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)	TAACACCAAGGACTAATCTCA	0.478000														19			11		0	0	1	0	0
OR2F1	26211	broad.mit.edu	37	7	143657981	143657981	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:143657981G>A	uc003wds.1	+	0	962	c.918G>A	c.(916-918)tgG>tgA	p.W306*		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA.	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W306C(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					AACTATTATGGAAATTCTCTG	0.433000														37			19		0	0	1	0	0
ARHGAP19	84986	broad.mit.edu	37	10	99025671	99025671	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:99025671C>G	uc001knb.3	-	1	314	c.268G>C	c.(268-270)Ggg>Cgg	p.G90R	ARHGAP19_uc001kmy.3_Non-coding_Transcript|ARHGAP19_uc001kna.3_Missense_Mutation_p.G81R|ARHGAP19_uc009xvj.3_Missense_Mutation_p.G90R|ARHGAP19_uc009xvi.3_Non-coding_Transcript|ARHGAP19_uc009xvk.3_Intron	NM_032900	NP_116289	Q14CB8	RHG19_HUMAN	Homo sapiens Rho GTPase activating protein 19 (ARHGAP19), transcript variant 1, mRNA.	90					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	GTPase activator activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|urinary_tract(1)	13		Colorectal(252;0.0854)		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)		GGGCCAGCCCCGCCAGGCAAC	0.542000														66			18		0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201035359	201035359	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:201035359T>C	uc001gvv.3	-	20	2970	c.2743A>G	c.(2743-2745)Aag>Gag	p.K915E		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	915					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TCTCTCACCTTCAACCCCTTG	0.647000														72			16		0	0	1	0	0
OR7G2	390882	broad.mit.edu	37	19	9213689	9213689	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:9213689C>T	uc010xkk.2	-	0	294	c.294G>A	c.(292-294)acG>acA	p.T98T		NM_001005193	NP_001005193	Q8NG99	OR7G2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 2 (OR7G2), mRNA.	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						TCTTTGGGATCGTGGTTGTGC	0.488000														37			18		0	0	1	0	0
GPR83	10888	broad.mit.edu	37	11	94113357	94113358	+	Missense_Mutation	DNP	CT	TA	TA			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:94113357_94113358CT>TA	uc001pet.2	-	3	1401_1402	c.1229_1230AG>TA	c.(1228-1230)aag>aTA	p.K410I		NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN	Homo sapiens G protein-coupled receptor 83 (GPR83), mRNA.	410						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)				ACAGGTCTGTCTTCCCAGACTG	0.564000														22			13		0	0	1	0	0
HMOX1	3162	broad.mit.edu	37	22	35782688	35782688	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:35782688C>A	uc003ant.2	+	2	262	c.155C>A	c.(154-156)gCc>gAc	p.A52D		NM_002133	NP_002124	P09601	HMOX1_HUMAN	Homo sapiens heme oxygenase (decycling) 1 (HMOX1), mRNA.	52					angiogenesis|anti-apoptosis|cell death|cellular iron ion homeostasis|endothelial cell proliferation|erythrocyte homeostasis|heme catabolic process|heme oxidation|intracellular protein kinase cascade|low-density lipoprotein particle clearance|negative regulation of leukocyte migration|negative regulation of smooth muscle cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of chemokine biosynthetic process|positive regulation of smooth muscle cell proliferation|protein homooligomerization|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hydrogen peroxide|response to nicotine|smooth muscle hyperplasia|transmembrane transport|wound healing involved in inflammatory response	endoplasmic reticulum membrane|extracellular space|microsome	enzyme binding|heme binding|heme oxygenase (decyclizing) activity|protein homodimerization activity|signal transducer activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16					NADH(DB00157)	CTGGTGATGGCCTCCCTGTAC	0.602000														17			13		1.5842e-08	1.60063e-08	1	1	0
LOC646813	646813	broad.mit.edu	37	11	50368807	50368807	+	RNA	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:50368807G>A	uc001nhe.2	+	1		c.111G>A			LOC646813_uc001nhf.1_Non-coding_Transcript|LOC646813_uc001nhg.1_Non-coding_Transcript					Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 pseudogene (LOC646813), non-coding RNA.																		TGAAATACATGAAAGAGACAT	0.323000														14			3		0	0	1	0	0
BACE2	25825	broad.mit.edu	37	21	42629149	42629149	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr21:42629149C>T	uc002yyw.3	+	7	1662	c.1199C>T	c.(1198-1200)cCa>cTa	p.P400L	BACE2_uc002yyx.3_Missense_Mutation_p.P350L|BACE2_uc002yyy.3_Intron|BACE2_uc010goo.3_Intron	NM_012105	NP_036237	Q9Y5Z0	BACE2_HUMAN	Homo sapiens beta-site APP-cleaving enzyme 2 (BACE2), transcript variant a, mRNA.	400					membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	Golgi apparatus|cell surface|endoplasmic reticulum|endosome|integral to membrane	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				GGCATTTCCCCATCCACAAAT	0.542000														42			12		0	0	1	0	0
USP32	84669	broad.mit.edu	37	17	58422887	58422887	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:58422887G>A	uc002iyo.1	-	1	427	c.141C>T	c.(139-141)ttC>ttT	p.F47F	USP32_uc010wov.1_Silent_p.F47F	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	Homo sapiens ubiquitin specific peptidase 32 (USP32), mRNA.	47					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CTTCCCGGATGAAGCAGTGCT	0.463000														82			7		0	0	1	0	0
STX1B	112755	broad.mit.edu	37	16	31012882	31012882	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:31012882G>A	uc010cad.2	-	1	185	c.73C>T	c.(73-75)Cgg>Tgg	p.R25W	STX1B_uc010vfd.2_Missense_Mutation_p.R25W	NM_052874	NP_443106	P61266	STX1B_HUMAN	Homo sapiens syntaxin 1B (STX1B), mRNA.	25					intracellular protein transport|neurotransmitter transport|synaptic transmission	integral to plasma membrane	SNAP receptor activity|extracellular-glutamate-gated ion channel activity	p.R25L(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(5)	13						AAGTGGTCCCGATCCACGTGG	0.627000														26			15		0	0	1	0	0
SYCP2L	221711	broad.mit.edu	37	6	10927502	10927502	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:10927502G>A	uc003mzo.3	+	16	1638	c.1342G>A	c.(1342-1344)Gag>Aag	p.E448K	SYCP2L_uc011din.1_Intron|SYCP2L_uc010jow.3_Missense_Mutation_p.E68K	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA.	448						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			TAACATGGTGGAGTTTATGAG	0.433000														60			13		0	0	1	0	0
OR2T2	401992	broad.mit.edu	37	1	248616405	248616405	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:248616405T>A	uc001iek.1	+	0	307	c.307T>A	c.(307-309)Ttc>Atc	p.F103I		NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 2 (OR2T2), mRNA.	103					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)			AGTTCAGATCTTCCTCTACCT	0.532000														122			16		0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28992948	28992948	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr18:28992948C>T	uc002kwr.2	+	14	2705	c.2570C>T	c.(2569-2571)cCa>cTa	p.P857L	DSG4_uc002kwq.2_Missense_Mutation_p.P838L	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	838					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.P856H(1)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ACTTTAGATCCAAAATTTAGG	0.438000														52			24		0	0	1	0	0
ADAMTSL2	9719	broad.mit.edu	37	9	136402577	136402577	+	Silent	SNP	C	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:136402577C>A	uc011mdl.2	+	2	698	c.141C>A	c.(139-141)gcC>gcA	p.A47A	ADAMTSL2_uc004cei.3_Silent_p.A47A	NM_001145320	NP_055509	Q86TH1	ATL2_HUMAN	Homo sapiens ADAMTS-like 2 (ADAMTSL2), transcript variant 2, mRNA.	47	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)		ACGCCACGGCCTTCTGGTGGG	0.667000														66			29		1.99505e-19	2.03177e-19	1	1	0
FAM179A	165186	broad.mit.edu	37	2	29240740	29240740	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:29240740C>T	uc010ezl.3	+	9	1629	c.1278C>T	c.(1276-1278)atC>atT	p.I426I	FAM179A_uc010ymm.2_Intron|FAM179A_uc002rmr.4_Intron	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA.	426							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TCAGCATCATCCTGAGGAAGT	0.682000														9			6		0	0	1	0	0
CYLC1	1538	broad.mit.edu	37	X	83129167	83129167	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:83129167C>T	uc004eei.1	+	3	1472	c.1451C>T	c.(1450-1452)aCt>aTt	p.T484I	CYLC1_uc004eeh.1_Missense_Mutation_p.T483I	NM_021118	NP_066941	P35663	CYLC1_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA.	484					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						GCAGAATCTACTGAAATGGAA	0.343000														1			4		0	0	1	0	0
CAMK2B	816	broad.mit.edu	37	7	44298504	44298504	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:44298504G>A	uc003tkq.2	-	3	452	c.242C>T	c.(241-243)tCc>tTc	p.S81F	CAMK2B_uc003tkp.2_Missense_Mutation_p.S81F|CAMK2B_uc003tkr.2_Missense_Mutation_p.S81F|CAMK2B_uc003tks.2_Missense_Mutation_p.S81F|CAMK2B_uc003tku.2_Missense_Mutation_p.S81F|CAMK2B_uc003tkv.2_Missense_Mutation_p.S81F|CAMK2B_uc003tkt.2_Missense_Mutation_p.S81F|CAMK2B_uc003tkw.2_Missense_Mutation_p.S81F|CAMK2B_uc010kyc.2_Missense_Mutation_p.S81F	NM_001220	NP_001211	Q13554	KCC2B_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II beta (CAMK2B), transcript variant 1, mRNA.	81	Protein kinase.				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						GCCCTCCTCGGAGATGCTGTC	0.612000														26			3		0	0	1	0	0
ODC1	4953	broad.mit.edu	37	2	10584230	10584230	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:10584230G>A	uc010exg.1	-	4	874	c.440C>T	c.(439-441)cCc>cTc	p.P147L	ODC1_uc002rao.1_Missense_Mutation_p.P147L|ODC1_uc010yjd.1_Missense_Mutation_p.P17L	NM_002539	NP_002530	P11926	DCOR_HUMAN	Homo sapiens ornithine decarboxylase 1 (ODC1), mRNA.	147					polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)	CTTTGCTTTGGGATGTGCTCT	0.358000														127			54		0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48684312	48684312	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:48684312G>A	uc003cuf.1	-	22	7389	c.7389C>T	c.(7387-7389)gtC>gtT	p.V2463V	CELSR3_uc010hkf.3_5'Flank|CELSR3_uc010hkg.3_Silent_p.V376V|CELSR3_uc003cul.3_Silent_p.V2393V|CELSR3_uc021wxq.1_5'Flank	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	2393					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)		CTGGTGGGGGGACCACACTTG	0.582000														8			3		0	0	1	0	0
FHDC1	85462	broad.mit.edu	37	4	153896066	153896066	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:153896066C>T	uc003inf.2	+	10	1698	c.1623C>T	c.(1621-1623)ctC>ctT	p.L541L		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	541					actin cytoskeleton organization		actin binding		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)					GCTCCCGCCTCTCCCTGGGTC	0.687000														10			11		0	0	1	0	0
FURIN	5045	broad.mit.edu	37	15	91424898	91424898	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:91424898C>T	uc002bpu.1	+	15	2391	c.2175C>T	c.(2173-2175)atC>atT	p.I725I	FES_uc002bpv.3_5'Flank|FES_uc010uqj.2_5'Flank|FES_uc010uqk.2_5'Flank	NM_002569	NP_002560	P09958	FURIN_HUMAN	Homo sapiens furin (paired basic amino acid cleaving enzyme) (FURIN), mRNA.	725					Notch signaling pathway|cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	Golgi lumen|Golgi membrane|cell surface|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity	p.I725I(2)|p.V717fs*18(1)		breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GCGCCTTCATCGTGCTGGTCT	0.662000														344			23		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34046479	34046479	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:34046479G>A	uc001bxm.1	-	47	7438	c.7261C>T	c.(7261-7263)Ctg>Ttg	p.L2421L	CSMD2_uc001bxn.1_Silent_p.L2423L	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2423	CUB 14.					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)				GCTTTCAGCAGAGGACTCTGT	0.562000														29			9		0	0	1	0	0
PDE6B	5158	broad.mit.edu	37	4	654278	654278	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:654278C>T	uc003gap.3	+	11	1543	c.1490C>T	c.(1489-1491)aCc>aTc	p.T497I	PDE6B_uc003gao.4_Missense_Mutation_p.T497I|PDE6B_uc011buy.2_Missense_Mutation_p.T218I	NM_000283	NP_001138764	P35913	PDE6B_HUMAN	Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.	497					GMP metabolic process|cytosolic calcium ion homeostasis|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.T497S(2)		NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						CCAGGGCCCACCACATTTGAC	0.567000														29			22		0	0	1	0	0
MRO	83876	broad.mit.edu	37	18	48331554	48331554	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr18:48331554G>A	uc010dpa.3	-	3	590	c.441C>T	c.(439-441)atC>atT	p.I147I	MRO_uc010xdn.2_Silent_p.I133I|MRO_uc002lew.4_Silent_p.I133I|MRO_uc010dpb.3_Silent_p.I147I|MRO_uc010dpc.3_Silent_p.I133I|MRO_uc002lex.4_Silent_p.I133I	NM_001127176	NP_001120648	Q9BYG7	MSTRO_HUMAN	Homo sapiens maestro (MRO), transcript variant 4, mRNA.	133						nucleolus	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		TCTGAAGGGTGATATCTATGA	0.433000														17			24		0	0	1	0	0
OR5L2	26338	broad.mit.edu	37	11	55594778	55594778	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:55594778C>T	uc001nhy.1	+	0	84	c.84C>T	c.(82-84)ttC>ttT	p.F28F		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 2 (OR5L2), mRNA.	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TCTGCCTCTTCCTGCTGTTCC	0.502000										HNSCC(27;0.073)				131			29		0	0	1	0	0
ERG	2078	broad.mit.edu	37	21	39755657	39755657	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr21:39755657G>A	uc010gnw.3	-	11	1424	c.1129C>T	c.(1129-1131)Cgt>Tgt	p.R377C	ERG_uc021wjd.1_Intron|ERG_uc002yxa.3_Missense_Mutation_p.R370C|ERG_uc011aek.2_Missense_Mutation_p.R278C|ERG_uc010gnv.3_Missense_Mutation_p.R254C|ERG_uc010gnx.3_Missense_Mutation_p.R353C|ERG_uc011ael.2_Missense_Mutation_p.R377C|ERG_uc002yxb.3_Missense_Mutation_p.R353C	NM_001243428	NP_001230357	P11308	ERG_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog (avian) (ERG), transcript variant 5, mRNA.	377					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		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)				TAGTAGTAACGGAGGGCGCGG	0.602000			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""									84			28		0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71347381	71347381	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:71347381C>T	uc011cat.2	+	3	1208	c.920C>T	c.(919-921)cCa>cTa	p.P307L	MUC7_uc011cau.2_Missense_Mutation_p.P307L|MUC7_uc003hfj.3_Missense_Mutation_p.P307L	NM_001145006	NP_689504	Q8TAX7	MUC7_HUMAN	Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA.	307	Thr-rich.					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)			ACAGCTGCCCCAATTACCACA	0.547000														168			56		0	0	1	0	0
ACTL6B	51412	broad.mit.edu	37	7	100252710	100252710	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:100252710C>T	uc003uvy.3	-	3	408	c.301G>A	c.(301-303)Gat>Aat	p.D101N	ACTL6B_uc003uvz.3_Non-coding_Transcript|AK055267_uc003uwa.1_5'Flank	NM_016188	NP_057272	O94805	ACL6B_HUMAN	Homo sapiens actin-like 6B (ACTL6B), mRNA.	101					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	SWI/SNF complex|nBAF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TAGGTGTGATCCAGGATGGCT	0.597000														16			17		0	0	1	0	0
GRXCR1	389207	broad.mit.edu	37	4	42965087	42965087	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:42965087G>A	uc003gwt.3	+	1	564	c.563G>A	c.(562-564)cGa>cAa	p.R188Q		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	Homo sapiens glutaredoxin, cysteine rich 1 (GRXCR1), mRNA.	188	Glutaredoxin.				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						TTAGACGAACGATGCCGACGA	0.418000														183			170		0	0	1	0	0
SOX7	83595	broad.mit.edu	37	8	10583504	10583504	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:10583504G>A	uc011kwz.2	-	5	1100	c.1067C>T	c.(1066-1068)tCc>tTc	p.S356F	SOX7_uc003wtf.3_Missense_Mutation_p.S304F	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN	Homo sapiens SRY (sex determining region Y)-box 7 (SOX7), mRNA.	304	Sox C-terminal.				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		AGGAGGCGGGGAAAGCTGGCC	0.607000														21			15		0	0	1	0	0
KIF7	374654	broad.mit.edu	37	15	90190149	90190149	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:90190149G>A	uc002bof.2	-	6	1777	c.1700C>T	c.(1699-1701)cCc>cTc	p.P567L	KIF7_uc010upw.1_Missense_Mutation_p.P54L	NM_198525	NP_940927	Q2M1P5	KIF7_HUMAN	Homo sapiens kinesin family member 7 (KIF7), mRNA.	567					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			ACCCCCCAGGGGGGCTGTATG	0.692000											OREG0023460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		136			20		0	0	1	0	0
C1orf127	148345	broad.mit.edu	37	1	11009823	11009823	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:11009823G>A	uc010oao.2	-	10	1148	c.1148C>T	c.(1147-1149)cCc>cTc	p.P383L	C1orf127_uc001ars.2_Missense_Mutation_p.P244L|C1orf127_uc001arr.2_Missense_Mutation_p.P226L	NM_001170754	NP_001164225	B7ZLG7	B7ZLG7_HUMAN	Homo sapiens chromosome 1 open reading frame 127 (C1orf127), mRNA.	234										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		TGGTGGGGAGGGAGTGGTCCT	0.607000														6			6		0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815070	106815070	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:106815070G>A	uc003ymd.3	+	7	2783	c.2760G>A	c.(2758-2760)ggG>ggA	p.G920G	ZFPM2_uc011lhs.2_Silent_p.G651G	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	920					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AGAAAAATGGGAATTTGAAGC	0.453000														25			5		0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17699077	17699077	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:17699077C>T	uc002grm.3	+	2	3284	c.2815C>T	c.(2815-2817)Cag>Tag	p.Q939*	RAI1_uc002grn.1_Nonsense_Mutation_p.Q939*	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	Homo sapiens retinoic acid induced 1 (RAI1), mRNA.	939			Q -> P (in dbSNP:rs1759075).			cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GTCAAAGGTCCAGAGCTGGTT	0.637000														32			10		0	0	1	0	0
CCL18	6362	broad.mit.edu	37	17	34397833	34397833	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:34397833C>T	uc002hku.3	+	1	154	c.94C>T	c.(94-96)Ctc>Ttc	p.L32F		NM_002988	NP_002979	P55774	CCL18_HUMAN	Homo sapiens chemokine (C-C motif) ligand 18 (pulmonary and activation-regulated) (CCL18), mRNA.	32					cell-cell signaling|chemotaxis|immune response|inflammatory response|response to biotic stimulus|signal transduction	extracellular space	chemokine activity			endometrium(1)|large_intestine(2)|lung(1)	4		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GCTCTGCTGCCTCGTCTATAC	0.507000														14			9		0	0	1	0	0
EIF2C1	26523	broad.mit.edu	37	1	36360811	36360811	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:36360811C>T	uc001bzl.3	+	7	1174	c.961C>T	c.(961-963)Ccc>Tcc	p.P321S	EIF2C1_uc001bzk.3_Missense_Mutation_p.P246S|EIF2C1_uc009vuy.3_Non-coding_Transcript	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 1 (EIF2C1), mRNA.	321	PAZ.				negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	RNA binding|protein binding	p.P321L(1)		biliary_tract(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|prostate(1)|skin(6)|urinary_tract(1)	36		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GCTCAAGTATCCCCATCTGCC	0.478000														38			9		0	0	1	0	0
SYCP2L	221711	broad.mit.edu	37	6	10898251	10898251	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:10898251C>T	uc003mzo.3	+	4	640	c.344C>T	c.(343-345)tCc>tTc	p.S115F	SYCP2L_uc011din.1_5'UTR|SYCP2L_uc010jow.3_5'UTR	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA.	115						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			TACCTAGTTTCCTGGTTTGAA	0.383000														53			11		0	0	1	0	0
CHST1	8534	broad.mit.edu	37	11	45671555	45671555	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:45671555G>A	uc021qgn.1	-	0	919	c.919C>T	c.(919-921)Cgg>Tgg	p.R307W	CHST1_uc001mys.2_Missense_Mutation_p.R307W	NM_003654	NP_003645	O43916	CHST1_HUMAN	Homo sapiens carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 (CHST1), mRNA.	307					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		ATAGGGTTCCGAGCCAGGTCC	0.642000														44			43		0	0	1	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72509663	72509663	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:72509663G>A	uc001jrg.3	+	15	2358	c.2358G>A	c.(2356-2358)ctG>ctA	p.L786L	ADAMTS14_uc001jrh.3_Silent_p.L783L	NM_139155	NP_631894	Q8WXS8	ATS14_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA.	783	Spacer.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CCATGGGCCTGGAGTGGGAGG	0.642000														53			39		0	0	1	0	0
DBC1	1620	broad.mit.edu	37	9	121929881	121929881	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:121929881C>T	uc004bkc.2	-	7	2223	c.1767G>A	c.(1765-1767)aaG>aaA	p.K589K		NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	589					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GGAGACGGATCTTCTCCCAGC	0.527000														44			34		0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53574695	53574695	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:53574695G>A	uc004dsp.3	-	67	10977	c.10575C>T	c.(10573-10575)acC>acT	p.T3525T	HUWE1_uc004dsn.3_Silent_p.T2333T|HUWE1_uc004dsq.1_5'Flank	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	3525	Thr-rich.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CTACGACAATGGTGGAAATAG	0.582000														2			6		0	0	1	0	0
LIF	3976	broad.mit.edu	37	22	30639987	30639988	+	Missense_Mutation	DNP	CC	TT	TT	rs112776523		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:30639987_30639988CC>TT	uc003agz.2	-	2	373_374	c.261_262GG>AA	c.(259-264)acggac>acAAac	p.D88N	LIF_uc011aks.1_Missense_Mutation_p.G28K|MGC20647_uc003aha.3_5'Flank	NM_002309	NP_002300	P15018	LIF_HUMAN	Homo sapiens leukemia inhibitory factor (cholinergic differentiation factor) (LIF), mRNA.	88					immune response|leukemia inhibitory factor signaling pathway|negative regulation of hormone secretion|positive regulation of MAPKKK cascade|positive regulation of cell proliferation|positive regulation of macrophage differentiation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of metanephric nephron tubule epithelial cell differentiation		cytokine activity|growth factor activity|leukemia inhibitory factor receptor binding			breast(1)|lung(3)|skin(3)	7			Epithelial(10;0.171)			GGCGGGAAGTCCGTCACGTTGG	0.634000														37			7		0	0	1	0	0
PLXND1	23129	broad.mit.edu	37	3	129289910	129289910	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:129289910G>A	uc003emx.2	-	17	3673	c.3573C>T	c.(3571-3573)ccC>ccT	p.P1191P		NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	Homo sapiens plexin D1 (PLXND1), mRNA.	1191					axon guidance	integral to membrane|intracellular|plasma membrane		p.P1191P(2)	PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GAGGCTCCCCGGGGTGGTGCT	0.667000														179			66		0	0	1	0	0
RLF	6018	broad.mit.edu	37	1	40703598	40703598	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:40703598C>T	uc001cfc.4	+	7	3255	c.3224C>T	c.(3223-3225)tCa>tTa	p.S1075L	RLF_uc001cfd.4_Missense_Mutation_p.S766L	NM_012421	NP_036553	Q13129	RLF_HUMAN	Homo sapiens rearranged L-myc fusion (RLF), mRNA.	1075					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)			TTGAAAAACTCAATAACACAT	0.413000														25			42		0	0	1	0	0
MAGEA3	4102	broad.mit.edu	37	X	151935230	151935230	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:151935230C>T	uc022chl.1	-	0	937	c.937G>A	c.(937-939)Gaa>Aaa	p.E313K	MAGEA3_uc004fgp.3_Missense_Mutation_p.E313K	NM_005362	NP_005353	P43357	MAGA3_HUMAN	Homo sapiens melanoma antigen family A, 3 (MAGEA3), mRNA.	313										endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					ACTCACTCTTCCCCCTCTCTC	0.572000														77			62		0	0	1	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47247070	47247070	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:47247070C>T	uc002ion.2	+	10	1740	c.1681C>T	c.(1681-1683)Cat>Tat	p.H561Y	B4GALNT2_uc010wlt.1_Missense_Mutation_p.H475Y|B4GALNT2_uc010wlu.1_Missense_Mutation_p.H501Y	NM_153446	NP_001152860	Q8NHY0	B4GN2_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 2 (B4GALNT2), transcript variant 1, mRNA.	561					UDP-N-acetylgalactosamine metabolic process|lipid glycosylation|negative regulation of cell-cell adhesion	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			CTTCAAGAACCATCTCCAATG	0.517000														54			5		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	114326902	114326902	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:114326902C>T	uc003ynu.3	-	1	458	c.299G>A	c.(298-300)cGa>cAa	p.R100Q	CSMD3_uc003ynt.3_Missense_Mutation_p.R60Q|CSMD3_uc011lhx.2_Missense_Mutation_p.R100Q|CSMD3_uc010mcx.1_Missense_Mutation_p.R100Q|CSMD3_uc003ynx.4_Missense_Mutation_p.R100Q	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	100	CUB 1.					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						TATTCTATTTCGTTCTTCTGC	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				47			17		0	0	1	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12836141	12836141	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:12836141T>A	uc001aui.3	+	1	770	c.743T>A	c.(742-744)cTa>cAa	p.L248Q		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	Homo sapiens PRAME family member 12 (PRAMEF12), mRNA.	248										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGCATTCCCCTAGACAGGAAG	0.498000														106			21		0	0	1	0	0
YTHDC1	91746	broad.mit.edu	37	4	69179937	69179937	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:69179937G>A	uc003hdx.3	-	16	2417	c.2064C>T	c.(2062-2064)gaC>gaT	p.D688D	YTHDC1_uc003hdy.3_Silent_p.D670D	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	Homo sapiens YTH domain containing 1 (YTHDC1), transcript variant 1, mRNA.	688	Arg-rich.									NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						ctctagggcggtctcgctctc	0.512000														13			4		0	0	1	0	0
WDR78	79819	broad.mit.edu	37	1	67303398	67303398	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:67303398G>A	uc001dcx.3	-	9	1632	c.1576C>T	c.(1576-1578)Ccc>Tcc	p.P526S	WDR78_uc001dcy.3_Missense_Mutation_p.P526S|WDR78_uc009waw.3_Missense_Mutation_p.P272S|WDR78_uc009wax.3_Non-coding_Transcript	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN	Homo sapiens WD repeat domain 78 (WDR78), transcript variant 1, mRNA.	526										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						GTTACCATGGGATTCTTTATT	0.333000														40			13		0	0	1	0	0
C3orf14	57415	broad.mit.edu	37	3	62317022	62317022	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:62317022C>T	uc003dlf.3	+	4	344	c.200C>T	c.(199-201)tCa>tTa	p.S67L	C3orf14_uc010hnq.3_Missense_Mutation_p.S67L|C3orf14_uc003dlg.3_Missense_Mutation_p.S67L	NM_020685	NP_065736	Q9HBI5	CC014_HUMAN	Homo sapiens chromosome 3 open reading frame 14 (C3orf14), mRNA.	67										central_nervous_system(1)|large_intestine(1)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(55;0.00023)|KIRC - Kidney renal clear cell carcinoma(15;0.00877)|Kidney(15;0.0101)		GCAGAAAAGTCACTACAGACC	0.393000														33			13		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176927535	176927535	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:176927535G>A	uc001glc.3	-	9	1894	c.1682C>T	c.(1681-1683)cCa>cTa	p.P561L	ASTN1_uc001glb.1_Missense_Mutation_p.P561L|ASTN1_uc001gld.1_Missense_Mutation_p.P561L|ASTN1_uc009wwx.1_Missense_Mutation_p.P561L	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	569					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CTTTGCTGATGGATTGATGGC	0.552000														20			20		0	0	1	0	0
ARHGEF1	9138	broad.mit.edu	37	19	42399518	42399518	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:42399518C>T	uc002orx.3	+	11	1083	c.974C>T	c.(973-975)tCt>tTt	p.S325F	ARHGEF1_uc002orw.1_Missense_Mutation_p.S325F|ARHGEF1_uc002ory.3_Missense_Mutation_p.S292F|ARHGEF1_uc002orz.3_Missense_Mutation_p.S163F|ARHGEF1_uc002osa.3_Missense_Mutation_p.S340F|ARHGEF1_uc002osb.3_Missense_Mutation_p.S307F|ARHGEF1_uc002osc.3_Missense_Mutation_p.S19F|ARHGEF1_uc002osd.3_5'Flank	NM_004706	NP_004697	Q92888	ARHG1_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 1 (ARHGEF1), transcript variant 2, mRNA.	325					Rho protein signal transduction|cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		CCTGGAGTCTCTCTGCACCCT	0.677000														66			29		0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43891598	43891598	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:43891598C>T	uc001cjk.2	+	19	2991	c.381C>T	c.(379-381)ccC>ccT	p.P127P	SZT2_uc009vws.1_Silent_p.P969P	NM_015284	NP_056099	Q5T011	SZT2_HUMAN	Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.	969						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						GTCCTCTGCCCCCAGAGCCGA	0.602000														82			18		0	0	1	0	0
SPDYE1	285955	broad.mit.edu	37	7	44042272	44042272	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:44042272G>A	uc003tjf.3	+	1	479	c.343G>A	c.(343-345)Gag>Aag	p.E115K	POLR2J4_uc003tjc.2_Intron|POLR2J4_uc003tjd.3_Intron|POLR2J4_uc010kxw.2_Intron|POLR2J4_uc003tje.4_Intron	NM_175064	NP_778234	Q8NFV5	SPDE1_HUMAN	Homo sapiens speedy homolog E1 (Xenopus laevis) (SPDYE1), mRNA.	115										endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	11						TGAGGAGTCGGAGGAGGAGCC	0.592000														38			18		0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30705509	30705509	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:30705509G>A	uc003xil.3	-	0	1025	c.1025C>T	c.(1024-1026)cCt>cTt	p.P342L		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	342										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AGAGTGCTGAGGATGCTTTTG	0.368000														13			15		0	0	1	0	0
PGC	5225	broad.mit.edu	37	6	41712210	41712210	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:41712210T>G	uc003ora.2	-	2	320	c.253A>C	c.(253-255)Aac>Cac	p.N85H	PGC_uc021yzm.1_Missense_Mutation_p.N85H	NM_002630	NP_002621	P20142	PEPC_HUMAN	Homo sapiens progastricsin (pepsinogen C) (PGC), transcript variant 1, mRNA.	85					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)			ACCAGGAAGTTCTGGGGTGGA	0.617000														88			13		0	0	1	0	0
KRT33A	3883	broad.mit.edu	37	17	39503160	39503160	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:39503160T>G	uc002hwk.1	-	4	849	c.812A>C	c.(811-813)gAg>gCg	p.E271A		NM_004138	NP_004129	O76009	KT33A_HUMAN	Homo sapiens keratin 33A (KRT33A), mRNA.	271	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				CTCGATGATCTCCGCCTGGTA	0.587000														111			17		0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67133595	67133595	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:67133595G>A	uc002jhw.1	-	2	318	c.143C>T	c.(142-144)tCc>tTc	p.S48F	ABCA6_uc002jhy.3_Missense_Mutation_p.S46F	NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	48					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CATGGAACTGGAAAACAGAGC	0.368000														48			5		0	0	1	0	0
OR56A3	390083	broad.mit.edu	37	11	5969438	5969438	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:5969438C>T	uc010qzt.2	+	0	862	c.862C>T	c.(862-864)Cct>Tct	p.P288S		NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 3 (OR56A3), mRNA.	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCATGTCATTCCTGCAGCCCT	0.483000														55			26		0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45386869	45386869	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:45386869G>A	uc001zun.3	-	32	4619	c.4416C>T	c.(4414-4416)ttC>ttT	p.F1472F	DUOX2_uc010bea.3_Silent_p.F1472F	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	1472					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GCACTTTCTGGAAGTGCCGCT	0.627000														25			5		0	0	1	0	0
OR5B12	390191	broad.mit.edu	37	11	58207002	58207002	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:58207002G>A	uc010rkh.2	-	0	645	c.623C>T	c.(622-624)tCt>tTt	p.S208F		NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 12 (OR5B12), mRNA.	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TACCAGGATAGAAAAGAGGTC	0.408000														16			12		0	0	1	0	0
RASA2	5922	broad.mit.edu	37	3	141289854	141289854	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:141289854C>T	uc010huq.1	+	9	964	c.964C>T	c.(964-966)Cct>Tct	p.P322S	RASA2_uc003etz.1_Missense_Mutation_p.P322S|RASA2_uc003eua.1_Missense_Mutation_p.P322S|RASA2_uc011bnc.1_5'UTR	NM_006506	NP_006497	Q15283	RASA2_HUMAN	Homo sapiens RAS p21 protein activator 2 (RASA2), mRNA.	322					intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	Ras GTPase activator activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						CTACGTGCTTCCTTCAGAGTA	0.378000														16			5		0	0	1	0	0
ACOT12	134526	broad.mit.edu	37	5	80640034	80640035	+	Splice_Site	DNP	CC	TT	TT			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:80640034_80640035CC>TT	uc003khl.4	-	9	980	c.925_splice	c.e9-1	p.D309_splice	RNU5E-1_uc011cto.1_Intron	NM_130767	NP_570123	Q8WYK0	ACO12_HUMAN	Homo sapiens acyl-CoA thioesterase 12 (ACOT12), mRNA.	309					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)		CTGAAATCATCCTTTAATCAaa	0.347000														36			10		0	0	1	0	0
GPR75-ASB3	100302652	broad.mit.edu	37	2	53941624	53941624	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:53941624C>T	uc002rxi.4	-	6	1096	c.991G>A	c.(991-993)Gaa>Aaa	p.E331K	GPR75-ASB3_uc021vhl.1_Missense_Mutation_p.E220K|GPR75-ASB3_uc002rxg.2_Missense_Mutation_p.E293K|GPR75-ASB3_uc002rxh.2_Missense_Mutation_p.E220K|GPR75-ASB3_uc010yoo.2_Missense_Mutation_p.E210K	NM_001164165	NP_665862	Q2TAI4	Q2TAI4_HUMAN	Homo sapiens GPR75-ASB3 readthrough (GPR75-ASB3), mRNA.	328					intracellular signal transduction												AGGCAATCTTCATGTCCCCCA	0.463000														29			72		0	0	1	0	0
CACNG8	59283	broad.mit.edu	37	19	54466587	54466587	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:54466587G>A	uc002qcs.2	+	0	298	c.191G>A	c.(190-192)gGg>gAg	p.G64E		NM_031895	NP_114101	Q8WXS5	CCG8_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 8 (CACNG8), mRNA.	64					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|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		GGCGACGACGGGACCCCCCAC	0.697000														27			11		0	0	1	0	0
AGXT2	64902	broad.mit.edu	37	5	35003948	35003948	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:35003948G>A	uc003jjf.3	-	12	1600	c.1357C>T	c.(1357-1359)Ccc>Tcc	p.P453S	AGXT2_uc003jje.1_Missense_Mutation_p.P106S|AGXT2_uc011com.2_Missense_Mutation_p.P378S	NM_031900	NP_114106	Q9BYV1	AGT2_HUMAN	Homo sapiens alanine--glyoxylate aminotransferase 2 (AGXT2), nuclear gene encoding mitochondrial protein, mRNA.	453					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	TCTTCACGGGGAAGAGGCCGA	0.383000											OREG0016558	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		32			65		0	0	1	0	0
LCTL	197021	broad.mit.edu	37	15	66857072	66857072	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:66857072C>T	uc002aqc.3	-	1	356	c.224G>A	c.(223-225)gGg>gAg	p.G75E	LCTL_uc002aqd.4_Intron|LCTL_uc010bhw.3_5'UTR	NM_207338	NP_997221	Q6UWM7	LCTL_HUMAN	Homo sapiens lactase-like (LCTL), mRNA.	75					carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AAGCACTTTCCCCTTCCCACT	0.622000														50			62		0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100514036	100514036	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:100514036C>A	uc003yiv.3	+	25	4103	c.3992C>A	c.(3991-3993)cCc>cAc	p.P1331H	VPS13B_uc003yiw.3_Missense_Mutation_p.P1331H|VPS13B_uc003yiu.1_Missense_Mutation_p.P1331H|VPS13B_uc003yix.1_Missense_Mutation_p.P801H	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	1331					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TGGGTGCTTCCCAAAATTACT	0.453000														84			16		1.67942e-08	1.69613e-08	1	1	0
DUXA	503835	broad.mit.edu	37	19	57666693	57666693	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:57666693C>T	uc002qoa.1	-	4	531	c.486G>A	c.(484-486)agG>agA	p.R162R		NM_001012729	NP_001012747	A6NLW8	DUXA_HUMAN	Homo sapiens double homeobox A (DUXA), mRNA.	162						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)		CCACAGGTTCCCTTTTTCTCT	0.413000														25			10		0	0	1	0	0
GATA6	2627	broad.mit.edu	37	18	19780747	19780747	+	Silent	SNP	C	T	T	rs142079702	by1000genomes	TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr18:19780747C>T	uc002ktt.1	+	6	2014	c.1749C>T	c.(1747-1749)tcC>tcT	p.S583S	GATA6_uc002ktu.1_Silent_p.S583S	NM_005257	NP_005248	Q92908	GATA6_HUMAN	Homo sapiens GATA binding protein 6 (GATA6), mRNA.	583					blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			TCACGTCCTCCGTGCGACCGG	0.667000														29			7		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140167390	140167390	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:140167390G>A	uc003lhb.2	+	0	1515	c.1515G>A	c.(1513-1515)tcG>tcA	p.S505S	PCDHAC2_uc003lha.2_Silent_p.S505S|PCDHAC2_uc003lgz.3_Silent_p.S505S	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	519	Cadherin 5.				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)			GCGCGCTGTCGAACTACGTGT	0.682000														68			22		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38592933	38592933	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:38592933G>A	uc021wvo.1	-	26	4982	c.4930C>T	c.(4930-4932)Cgc>Tgc	p.R1644C	SCN5A_uc021wvk.1_Missense_Mutation_p.R1611C|SCN5A_uc021wvl.1_Missense_Mutation_p.R1590C|SCN5A_uc021wvm.1_Missense_Mutation_p.R1626C|SCN5A_uc021wvn.1_Missense_Mutation_p.R1643C|SCN5A_uc021wvp.1_Missense_Mutation_p.R1644C|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Missense_Mutation_p.R1456C|SCN5A_uc021wvi.1_Missense_Mutation_p.R1510C	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1644			R -> C (in LQT3 and BRS1).|R -> H (in LQT3; dbSNP:rs28937316).		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.R1644H(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)	AGCAGCGTGCGGATCCCCTTG	0.582000														98			28		0	0	1	0	0
OR52A1	23538	broad.mit.edu	37	11	5173183	5173183	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:5173183G>A	uc010qyy.2	-	0	417	c.417C>T	c.(415-417)acC>acT	p.T139T		NM_012375	NP_036507	Q9UKL2	O52A1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily A, member 1 (OR52A1), mRNA.	139					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAAGCTGGTGGGTGAAGATGT	0.483000														28			9		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126411587	126411587	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:126411587C>T	uc003ifj.4	+	16	13610	c.13610C>T	c.(13609-13611)cCc>cTc	p.P4537L	FAT4_uc011cgp.2_Missense_Mutation_p.P2778L|FAT4_uc003ifi.1_Missense_Mutation_p.P2014L	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4537					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						GCCAAAAATCCCAAAGAGGAG	0.527000														22			12		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24922816	24922816	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:24922816C>A	uc001ywo.3	+	0	2276	c.1802C>A	c.(1801-1803)cCa>cAa	p.P601Q		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	601					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)		AGCTCTCTCCCAAATTCCCAA	0.468000														71			12		0.00010058	0.000101036	1	1	0
TMEM132D	121256	broad.mit.edu	37	12	130185017	130185017	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:130185017G>A	uc009zyl.1	-	1	634	c.306C>T	c.(304-306)atC>atT	p.I102I		NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	102						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)		CCACTTGCTCGATGGAGAAAG	0.502000														19			7		0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152127776	152127776	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:152127776C>T	uc001ezs.1	-	2	1864	c.1799G>A	c.(1798-1800)gGg>gAg	p.G600E		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	600	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						TCCTTCAGTCCCTTGGAAGTA	0.453000														158			45		0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52360859	52360859	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:52360859C>T	uc011bef.2	+	4	951	c.690C>T	c.(688-690)acC>acT	p.T230T	DNAH1_uc003ddt.1_Silent_p.T230T	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	230	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACCCCCAAACCATCGAACAGG	0.587000														19			4		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10398360	10398360	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:10398360C>T	uc002gmo.3	-	36	5448	c.5354G>A	c.(5353-5355)cGg>cAg	p.R1785Q	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1785						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						CTTCTTCATCCGCTCCAGATG	0.527000														59			28		0	0	1	0	0
PPARG	5468	broad.mit.edu	37	3	12458228	12458228	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:12458228C>T	uc003bwx.3	+	5	936	c.845C>T	c.(844-846)tCc>tTc	p.S282F	PPARG_uc003bwr.3_Missense_Mutation_p.S254F|PPARG_uc003bws.3_Missense_Mutation_p.S254F|PPARG_uc003bwu.3_Missense_Mutation_p.S254F|PPARG_uc003bwv.3_Intron|PPARG_uc010hea.1_Non-coding_Transcript	NM_015869	NP_619726	P37231	PPARG_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma (PPARG), transcript variant 2, mRNA.	282					activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	GACATGAATTCCTTAATGATG	0.448000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""							14			9		0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37337828	37337828	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:37337828G>A	uc001caz.2	-	3	828	c.693C>T	c.(691-693)ttC>ttT	p.F231F	GRIK3_uc001cba.1_Silent_p.F231F	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	231					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)	GGCTGCAGTCGAAGATAATGC	0.607000														33			11		0	0	1	0	0
KIAA0226	9711	broad.mit.edu	37	3	197401903	197401903	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:197401903G>A	uc003fyc.2	-	19	3088	c.2905C>T	c.(2905-2907)Ctg>Ttg	p.L969L	KIAA0226_uc003fyd.3_Silent_p.L924L|KIAA0226_uc021xjw.1_5'Flank	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	Homo sapiens KIAA0226 (KIAA0226), transcript variant 2, mRNA.	969					autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		GTGGCCTCCAGGACGGCGGCT	0.677000														93			17		0	0	1	0	0
USP36	57602	broad.mit.edu	37	17	76818060	76818060	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:76818060G>A	uc002jvz.1	-	6	1041	c.716C>T	c.(715-717)aCc>aTc	p.T239I	USP36_uc002jwa.1_Missense_Mutation_p.T239I|USP36_uc002jwc.1_5'UTR	NM_025090	NP_079366	Q9P275	UBP36_HUMAN	Homo sapiens ubiquitin specific peptidase 36 (USP36), mRNA.	239					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			ATGGACCAAGGTAGTAGCCTG	0.512000														62			28		0	0	1	0	0
DAG1	1605	broad.mit.edu	37	3	49548002	49548002	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:49548002C>T	uc021wxz.1	+	1	504	c.35C>T	c.(34-36)cCc>cTc	p.P12L	DAG1_uc021wya.1_Missense_Mutation_p.P12L|DAG1_uc021wyb.1_Missense_Mutation_p.P12L|DAG1_uc021wyc.1_Missense_Mutation_p.P12L|DAG1_uc021wyd.1_Missense_Mutation_p.P12L|DAG1_uc021wye.1_Missense_Mutation_p.P12L|DAG1_uc021wyf.1_Missense_Mutation_p.P12L|DAG1_uc021wyg.1_Missense_Mutation_p.P12L|DAG1_uc021wyh.1_Missense_Mutation_p.P12L|DAG1_uc021wyi.1_Missense_Mutation_p.P12L|DAG1_uc021wyj.1_Missense_Mutation_p.P12L|DAG1_uc021wyk.1_Missense_Mutation_p.P12L|DAG1_uc003cxc.4_Missense_Mutation_p.P12L	NM_001177643	NP_001171114	Q14118	DAG1_HUMAN	Homo sapiens dystroglycan 1 (dystrophin-associated glycoprotein 1) (DAG1), transcript variant 12, mRNA.	12					cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CTGCTGCTGCCCCTCTCGGGG	0.567000														47			34		0	0	1	0	0
FASTKD1	79675	broad.mit.edu	37	2	170417084	170417084	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:170417084G>A	uc002uev.4	-	4	1172	c.784C>T	c.(784-786)Cac>Tac	p.H262Y	FASTKD1_uc002uew.4_Non-coding_Transcript|FASTKD1_uc002uex.4_Missense_Mutation_p.H248Y|FASTKD1_uc002uey.2_Missense_Mutation_p.H225Y	NM_024622	NP_078898	Q53R41	FAKD1_HUMAN	Homo sapiens FAST kinase domains 1 (FASTKD1), mRNA.	262					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						AAATCAAGGTGGTCCACATTA	0.284000														18			11		0	0	1	0	0
HMGB4	127540	broad.mit.edu	37	1	34330088	34330088	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:34330088C>T	uc021oky.1	+	0	296	c.296C>T	c.(295-297)tCc>tTc	p.S99F	CSMD2_uc001bxm.1_Intron|CSMD2_uc001bxn.1_Intron|HMGB4_uc001bxp.3_Missense_Mutation_p.S99F|HMGB4_uc001bxq.3_Missense_Mutation_p.S25F	NM_145205	NP_660206	B2R4X7	B2R4X7_HUMAN	Homo sapiens high mobility group box 4 (HMGB4), transcript variant 1, mRNA.	99						nucleus	DNA binding			NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCTCCATCATCCTTCCTACTC	0.542000														86			16		0	0	1	0	0
ZNF516	9658	broad.mit.edu	37	18	74154336	74154336	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr18:74154336G>A	uc021ulp.1	-	2	993	c.675C>T	c.(673-675)acC>acT	p.T225T		NM_014643	NP_055458	Q92618	ZN516_HUMAN	Homo sapiens zinc finger protein 516 (ZNF516), mRNA.	225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GCCCCTGCGCGGTGATGTGGT	0.697000														20			9		0	0	1	0	0
TCERG1	10915	broad.mit.edu	37	5	145862239	145862239	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:145862239C>T	uc003lob.3	+	12	2011	c.1971C>T	c.(1969-1971)gtC>gtT	p.V657V	TCERG1_uc003loc.3_Silent_p.V636V	NM_006706	NP_006697	O14776	TCRG1_HUMAN	Homo sapiens transcription elongation regulator 1 (TCERG1), transcript variant 1, mRNA.	657					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGCCATTGTCCCTCTGGAGG	0.408000														28			10		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69009423	69009423	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:69009423G>A	uc003xxv.1	+	21	2567	c.2540G>A	c.(2539-2541)aGc>aAc	p.S847N	PREX2_uc003xxu.1_Missense_Mutation_p.S847N|PREX2_uc011lez.1_Missense_Mutation_p.S782N	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	847					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						GGTTTCTTCAGCTTAACTGCC	0.398000														23			3		0	0	1	0	0
SBF1	6305	broad.mit.edu	37	22	50906820	50906820	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:50906820G>A	uc003blh.3	-	1	321	c.126C>T	c.(124-126)ccC>ccT	p.P42P	SBF1_uc011arx.2_5'Flank|SBF1_uc003bli.2_Silent_p.P42P	NM_002972	NP_002963	O95248	MTMR5_HUMAN	Homo sapiens SET binding factor 1 (SBF1), mRNA.	42	UDENN.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	p.P42S(1)		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)		CGATGCCCTGGGGGAATGGGT	0.662000														21			14		0	0	1	0	0
KRT38	8687	broad.mit.edu	37	17	39597163	39597163	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:39597163G>A	uc002hwq.1	-	0	434	c.11C>T	c.(10-12)tCc>tTc	p.S4F		NM_006771	NP_006762	O76015	KRT38_HUMAN	Homo sapiens keratin 38 (KRT38), mRNA.	4	Head.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				GCTGCTGTAGGAAGAGGTCAT	0.572000														42			8		0	0	1	0	0
PORCN	64840	broad.mit.edu	37	X	48369807	48369807	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:48369807C>T	uc010nie.1	+	2	419	c.261C>T	c.(259-261)ttC>ttT	p.F87F	PORCN_uc004djq.1_Silent_p.F200F|PORCN_uc004djr.1_Silent_p.F87F|PORCN_uc004djs.1_Silent_p.F87F|PORCN_uc011mlx.1_Silent_p.F16F|PORCN_uc004dju.1_5'UTR|PORCN_uc004djv.1_Silent_p.F87F|PORCN_uc004djw.1_Silent_p.F87F	NM_203475	NP_982301	Q9H237	PORCN_HUMAN	Homo sapiens porcupine homolog (Drosophila) (PORCN), transcript variant D, mRNA.	87	Leu-rich.				Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCGTGCTGTTCCTCTGCCGAC	0.552000											OREG0019764	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		19			130		0	0	1	0	0
BUB1B	701	broad.mit.edu	37	15	40475946	40475946	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:40475946C>T	uc001zkx.4	+	5	825	c.613C>T	c.(613-615)Ctg>Ttg	p.L205L	BUB1B_uc010ucl.1_Silent_p.L68L	NM_001211	NP_001202	O60566	BUB1B_HUMAN	Homo sapiens budding uninhibited by benzimidazoles 1 homolog beta (yeast) (BUB1B), mRNA.	205	BUB1 N-terminal.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TCGGCAAACTCTGTTGGCACT	0.413000			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome					59			12		0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135583257	135583257	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:135583257G>A	uc003lbn.2	-	6	1968	c.1746C>T	c.(1744-1746)ttC>ttT	p.F582F	TRPC7_uc010jef.2_Silent_p.F518F|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_Silent_p.F133F|TRPC7_uc010jeh.2_Silent_p.F521F|TRPC7_uc010jei.2_Silent_p.F466F	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	582					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)			AAATGACCATGAACTTGAAGA	0.463000														76			16		0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131916182	131916182	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:131916182C>T	uc003ytd.4	-	6	2003	c.1747G>A	c.(1747-1749)Gaa>Aaa	p.E583K	ADCY8_uc010mds.3_Missense_Mutation_p.E583K	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	583					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	p.E583K(2)		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)			AAGTAAGTTTCGATATTATGC	0.483000										HNSCC(32;0.087)				77			16		0	0	1	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42434879	42434879	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:42434879G>A	uc001zoz.3	-	18	2268	c.2176C>T	c.(2176-2178)Cga>Tga	p.R726*	PLA2G4F_uc010bcq.3_Nonsense_Mutation_p.R23*|PLA2G4F_uc001zoy.3_Nonsense_Mutation_p.R358*|PLA2G4F_uc001zpa.3_Nonsense_Mutation_p.R477*|PLA2G4F_uc010bcr.3_Nonsense_Mutation_p.R477*|PLA2G4F_uc010bcs.3_Nonsense_Mutation_p.R513*	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN	Homo sapiens phospholipase A2, group IVF (PLA2G4F), transcript variant 1, mRNA.	726	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		GGGATTCCTCGGTCCAGGCAG	0.617000														29			54		0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814722	106814722	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:106814722G>A	uc003ymd.3	+	7	2435	c.2412G>A	c.(2410-2412)acG>acA	p.T804T	ZFPM2_uc011lhs.2_Silent_p.T535T	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	804					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.T804T(2)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CTTCTCTGACGATCAACAAGT	0.443000														15			6		0	0	1	0	0
PDE6C	5146	broad.mit.edu	37	10	95394563	95394563	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:95394563C>T	uc001kiu.4	+	8	1306	c.1168C>T	c.(1168-1170)Ctg>Ttg	p.L390L		NM_006204	NP_006195	P51160	PDE6C_HUMAN	Homo sapiens phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C), mRNA.	390	GAF 2.				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)				TGTTTTGTCCCTGCCTATTGT	0.383000														31			6		0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193166058	193166058	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:193166058C>T	uc003ftd.3	-	17	2197	c.2089G>A	c.(2089-2091)Gaa>Aaa	p.E697K	ATP13A4_uc003fte.1_Missense_Mutation_p.E697K|ATP13A4_uc011bsr.1_Missense_Mutation_p.E168K|ATP13A4_uc010hzi.3_Non-coding_Transcript	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	697					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)		TTTGTCTCTTCCTTCAATCGA	0.388000														45			5		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140249284	140249284	+	Missense_Mutation	SNP	C	T	T	rs10071369	by1000genomes	TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:140249284C>T	uc003lia.2	+	0	1454	c.596C>T	c.(595-597)tCt>tTt	p.S199F	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_Missense_Mutation_p.S199F	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	214	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)			TTAAAGAAGTCTCTGGATAGA	0.403000														38			7		0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19027793	19027793	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:19027793G>A	uc002dfp.2	+	2	463	c.333G>A	c.(331-333)atG>atA	p.M111I	TMC7_uc010vao.1_Missense_Mutation_p.M111I|TMC7_uc002dfq.3_Missense_Mutation_p.M111I|TMC7_uc010vap.2_Missense_Mutation_p.M1I	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA.	111						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						AGACACAAATGAAGTATCTCT	0.498000														28			7		0	0	1	0	0
STON2	85439	broad.mit.edu	37	14	81744344	81744344	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:81744344C>T	uc010tvu.2	-	3	1509	c.1311G>A	c.(1309-1311)aaG>aaA	p.K437K	STON2_uc001xvk.1_Silent_p.K437K|STON2_uc010tvt.2_Silent_p.K234K	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA.	437	SHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		TGATGTTTTTCTTCTCAGGGA	0.527000														62			101		0	0	1	0	0
PAPLN	89932	broad.mit.edu	37	14	73720551	73720551	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:73720551C>T	uc010ttx.2	+	10	1347	c.1184C>T	c.(1183-1185)gCc>gTc	p.A395V	PAPLN_uc001xnw.4_Missense_Mutation_p.A368V|PAPLN_uc010arl.3_Non-coding_Transcript|PAPLN_uc010ttw.2_Non-coding_Transcript|PAPLN_uc010tty.2_Missense_Mutation_p.A395V	NM_173462	NP_775733	O95428	PPN_HUMAN	Homo sapiens papilin, proteoglycan-like sulfated glycoprotein (PAPLN), mRNA.	395	TSP type-1 3.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		TCTGACGGGGCCGGCATCCAG	0.687000														24			41		0	0	1	0	0
SGCZ	137868	broad.mit.edu	37	8	14022128	14022128	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:14022128C>T	uc003wwq.3	-	4	1168	c.508G>A	c.(508-510)Gat>Aat	p.D170N	SGCZ_uc010lss.3_Missense_Mutation_p.D123N	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN	Homo sapiens sarcoglycan, zeta (SGCZ), mRNA.	157					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		GTAATCTCATCTTCATCTGCA	0.413000														34			17		0	0	1	0	0
C6orf222	389384	broad.mit.edu	37	6	36298439	36298439	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:36298439G>A	uc003oly.3	-	1	207	c.29C>T	c.(28-30)cCc>cTc	p.P10L		NM_001010903	NP_001010903	P0C671	CF222_HUMAN	Homo sapiens chromosome 6 open reading frame 222 (C6orf222), mRNA.	10										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						CTCCGCCAGGGGCCTCCTTGG	0.557000														92			24		0	0	1	0	0
HAL	3034	broad.mit.edu	37	12	96384281	96384281	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:96384281C>T	uc001tem.1	-	9	1042	c.745G>A	c.(745-747)Gga>Aga	p.G249R	HAL_uc010sux.1_Missense_Mutation_p.G249R|HAL_uc009zti.1_Non-coding_Transcript|HAL_uc010suw.1_Missense_Mutation_p.G41R	NM_002108	NP_002099	P42357	HUTH_HUMAN	Homo sapiens histidine ammonia-lyase (HAL), mRNA.	249					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)	CCAACGGTTCCTTTCTCTGGG	0.542000														25			23		0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157527315	157527315	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:157527315C>T	uc003qqp.3	+	18	5001	c.5001C>T	c.(4999-5001)ctC>ctT	p.L1667L	ARID1B_uc003qqo.3_Silent_p.L1680L|ARID1B_uc003qqn.3_Silent_p.L1720L	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	1667					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CTGGATTTCTCGAACTTTTAG	0.418000														141			67		0	0	1	0	0
CASD1	64921	broad.mit.edu	37	7	94181669	94181669	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:94181669C>T	uc003uni.4	+	15	2191	c.1964C>T	c.(1963-1965)tCc>tTc	p.S655F	CASD1_uc003unj.4_Missense_Mutation_p.S655F	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	Homo sapiens CAS1 domain containing 1 (CASD1), mRNA.	655						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)			TAGACCTATTCCATCTGGGCT	0.348000														72			9		0	0	1	0	0
GGT6	124975	broad.mit.edu	37	17	4461943	4461943	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:4461943C>T	uc010vsc.2	-	3	927	c.867G>A	c.(865-867)ggG>ggA	p.G289G	GGT6_uc010vsb.2_Silent_p.G135G|GGT6_uc002fyd.4_Silent_p.G283G|GGT6_uc002fyc.4_Silent_p.G251G	NM_001122890	NP_001116362	Q6P531	GGT6_HUMAN	Homo sapiens gamma-glutamyltransferase 6 (GGT6), transcript variant 1, mRNA.	283					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						GCACCTCCACCCCCAGGTCTC	0.652000														8			4		0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122645520	122645520	+	Silent	SNP	T	C	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:122645520T>C	uc003efz.1	-	8	1159	c.855A>G	c.(853-855)ccA>ccG	p.P285P	SEMA5B_uc011bju.1_Silent_p.P227P|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Silent_p.P285P|SEMA5B_uc010hro.1_Silent_p.P227P|SEMA5B_uc010hrp.1_Non-coding_Transcript	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.	285	Sema.				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)		CCACGAAGTTTGGCTCTGGGT	0.582000														44			7		0	0	1	0	0
DLX4	1748	broad.mit.edu	37	17	48046976	48046976	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:48046976C>T	uc002ipv.3	+	0	415	c.144C>T	c.(142-144)tcC>tcT	p.S48S		NM_138281	NP_612138	Q92988	DLX4_HUMAN	Homo sapiens distal-less homeobox 4 (DLX4), transcript variant 1, mRNA.	48				MTSLPCPLPGRDASKAVFPDLAPVPSVAAAYPLGLSPTTAA SPNLSYSRPYGHLLSYPYTEPANPGDSYLSCQQPAALSQPL CGPAEHPQELEA -> GGSLSLPPEPLCARCPTKEGAAPRR PGFWGSLETQAATVWRGRHGHFSCRVRLSRGAARYSRRGQG KPGVTISAARLVFKVLSAGPLTHPAGRSRRLPRGHRLKPLS IALSLCLQCPSSVISRPRLSPGPSLSAPPYPKLAPPPVAEL RPPTAGAAVPWLWPSARFLPRVTGPIRVGAPLGAELRLVSP GAVNVGVETLHAE (in Ref. 9).	multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						TGTCCTACTCCAGGCCGTATG	0.652000														230			38		0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70359494	70359494	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:70359494C>T	uc003hek.4	-	1	834	c.787G>A	c.(787-789)Gat>Aat	p.D263N	UGT2B4_uc011cap.2_Missense_Mutation_p.D127N|UGT2B4_uc003hel.4_Missense_Mutation_p.D263N	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	263					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						AATTGAAAATCCCAGTAGTTT	0.418000														51			47		0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9785072	9785072	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:9785072G>A	uc003gmb.4	+	0	1815	c.1419G>A	c.(1417-1419)ccG>ccA	p.P473P		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	473					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		p.P473P(4)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CTTTCACCCCGAATGGATTCC	0.488000														9			21		0	0	1	0	0
OLFML2A	169611	broad.mit.edu	37	9	127566451	127566451	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:127566451A>G	uc004bov.3	+	5	1111	c.998A>G	c.(997-999)aAc>aGc	p.N333S	OLFML2A_uc010mwr.1_Missense_Mutation_p.N297S|OLFML2A_uc004bow.3_Missense_Mutation_p.N119S	NM_182487	NP_872293	Q68BL7	OLM2A_HUMAN	Homo sapiens olfactomedin-like 2A (OLFML2A), mRNA.	333										endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						GCAGAGCCCAACTCCGCAGAG	0.652000														39			9		0	0	1	0	0
POLN	353497	broad.mit.edu	37	4	2087431	2087431	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:2087431C>T	uc003ger.2	-	18	2118	c.2106G>A	c.(2104-2106)caG>caA	p.Q702Q	POLN_uc010icg.1_Silent_p.Q150Q|POLN_uc010ich.1_Silent_p.Q234Q	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	Homo sapiens polymerase (DNA directed) nu (POLN), mRNA.	702					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			GGGCAGCTTCCTGAATAGGAA	0.527000								DNA polymerases (catalytic subunits)						189			41		0	0	1	0	0
MGLL	11343	broad.mit.edu	37	3	127540619	127540619	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:127540619G>A	uc003ejx.3	-	1	188	c.43C>T	c.(43-45)Ccc>Tcc	p.P15S	MGLL_uc003ejw.3_Missense_Mutation_p.P25S|MGLL_uc011bko.2_Missense_Mutation_p.P25S|MGLL_uc010hsp.1_Missense_Mutation_p.P15S	NM_001003794	NP_001003794	Q99685	MGLL_HUMAN	Homo sapiens monoglyceride lipase (MGLL), transcript variant 2, mRNA.	15					arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process	plasma membrane	acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						TCCTGGTAGGGAATGCTCTGC	0.527000														90			21		0	0	1	0	0
PLA2G4A	5321	broad.mit.edu	37	1	186908283	186908283	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:186908283G>A	uc001gsc.3	+	8	1044	c.839G>A	c.(838-840)tGg>tAg	p.W280*	PLA2G4A_uc010pos.2_Nonsense_Mutation_p.W220*	NM_024420	NP_077734	P47712	PA24A_HUMAN	Homo sapiens phospholipase A2, group IVA (cytosolic, calcium-dependent) (PLA2G4A), mRNA.	280	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	GAGTCTTTATGGAAGAAGAAA	0.358000														33			23		0	0	1	0	0
PRR11	55771	broad.mit.edu	37	17	57271003	57271003	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:57271003C>T	uc002ixf.2	+	4	865	c.553C>T	c.(553-555)Cct>Tct	p.P185S	PRR11_uc021uar.1_Non-coding_Transcript	NM_018304	NP_060774	Q96HE9	PRR11_HUMAN	Homo sapiens proline rich 11 (PRR11), mRNA.	185	Pro-rich.									breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					CAGCCATTTtcctcctcctcc	0.552000														60			9		0	0	1	0	0
ARAP3	64411	broad.mit.edu	37	5	141059772	141059772	+	Silent	SNP	G	A	A	rs146312944		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:141059772G>A	uc003llm.3	-	1	360	c.282C>T	c.(280-282)ccC>ccT	p.P94P	ARAP3_uc003lln.3_Silent_p.P16P|ARAP3_uc003llo.1_Silent_p.P94P	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.	94	Pro-rich.				cytoskeleton organization|negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GCTTCGGCACGGGCTTAGGGG	0.652000														80			14		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49425497	49425497	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:49425497G>A	uc001rta.4	-	38	12991	c.12991C>T	c.(12991-12993)Ccc>Tcc	p.P4331S		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	4331	Pro-rich.				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						GCCTCAGTGGGAAGCTGGGAG	0.632000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				19			6		0	0	1	0	0
PDYN	5173	broad.mit.edu	37	20	1961444	1961444	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:1961444T>G	uc010gaj.3	-	2	532	c.290A>C	c.(289-291)aAg>aCg	p.K97T	AK090681_uc002wfu.1_Intron|PDYN_uc021vzs.1_Missense_Mutation_p.K97T|PDYN_uc021vzt.1_Missense_Mutation_p.K97T|PDYN_uc021vzu.1_Missense_Mutation_p.K97T|PDYN_uc002wfv.3_Missense_Mutation_p.K97T	NM_001190892	NP_077722	P01213	PDYN_HUMAN	Homo sapiens prodynorphin (PDYN), transcript variant 3, mRNA.	97					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCCAGAGAGCTTGGCCAGCTC	0.532000														43			28		0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42049243	42049243	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:42049243G>A	uc001cgz.4	-	3	2439	c.1226C>T	c.(1225-1227)aCc>aTc	p.T409I	HIVEP3_uc001cha.4_Missense_Mutation_p.T409I|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.	409	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).|Ser-rich.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CTTGGCGTTGGTGTTTGGGGG	0.602000														72			12		0	0	1	0	0
RIOK1	83732	broad.mit.edu	37	6	7404246	7404246	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:7404246C>T	uc003mxn.3	+	8	1014	c.840C>T	c.(838-840)atC>atT	p.I280I	RIOK1_uc003mxo.3_Silent_p.I39I	NM_031480	NP_694550	Q9BRS2	RIOK1_HUMAN	Homo sapiens RIO kinase 1 (yeast) (RIOK1), transcript variant 1, mRNA.	280	Protein kinase.						ATP binding|protein serine/threonine kinase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					TGAGTTTCATCGGTAAAGATG	0.338000														95			21		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197397047	197397047	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:197397047C>T	uc001gtz.3	+	6	2801	c.2592C>T	c.(2590-2592)ttC>ttT	p.F864F	CRB1_uc010poz.2_Silent_p.F795F|CRB1_uc009wza.3_Silent_p.F752F|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_Silent_p.F345F|CRB1_uc001gub.1_Silent_p.F513F	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	864	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						ATCTGGAATTCTTTCCAAATC	0.408000														35			16		0	0	1	0	0
KIF4A	24137	broad.mit.edu	37	X	69639608	69639608	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:69639608C>T	uc004dyg.3	+	29	3613	c.3470C>T	c.(3469-3471)cCc>cTc	p.P1157L	KIF4A_uc010nkw.3_Missense_Mutation_p.P1157L	NM_012310	NP_036442	O95239	KIF4A_HUMAN	Homo sapiens kinesin family member 4A (KIF4A), mRNA.	1157	Globular.|Interaction with PRC1.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						TTCTTTAATCCCGTCTGTGCC	0.517000														13			33		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135430047	135430047	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:135430047G>A	uc004ezu.1	+	5	4473	c.4182G>A	c.(4180-4182)gtG>gtA	p.V1394V	GPR112_uc010nsb.1_Silent_p.V1189V|GPR112_uc010nsc.1_Silent_p.V1161V	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1394					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)					CCAGGACTGTGGAAATGATAG	0.448000														80			24		0	0	1	0	0
NPAS2	4862	broad.mit.edu	37	2	101580612	101580612	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:101580612C>T	uc010yvt.1	+	7	888	c.886C>T	c.(886-888)Cgt>Tgt	p.R296C	NPAS2_uc002tap.1_Missense_Mutation_p.R231C	NM_002518	NP_002509	Q99743	NPAS2_HUMAN	Homo sapiens neuronal PAS domain protein 2 (NPAS2), mRNA.	231	PAS 2.				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			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						TGCCACCGTTCGTCTGGCAAC	0.478000														29			19		0	0	1	0	0
INTS4L1	285905	broad.mit.edu	37	7	64646884	64646884	+	RNA	SNP	T	C	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:64646884T>C	uc003ttw.3	+	7		c.1134T>C								Homo sapiens integrator complex subunit 4-like 1 (INTS4L1), non-coding RNA.																		GTTCCTGCCTTGAGGGTATGT	0.423000														40			5		0	0	1	0	0
GLIS1	148979	broad.mit.edu	37	1	54060070	54060070	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:54060070G>A	uc001cvr.1	-	2	1073	c.506C>T	c.(505-507)cCc>cTc	p.P169L		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA.	169					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						CTGAGACAGGGGATAGGGGGG	0.692000														13			8		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216405327	216405327	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:216405327G>A	uc001hku.1	-	13	3348	c.2961C>T	c.(2959-2961)gaC>gaT	p.D987D	USH2A_uc001hkv.3_Silent_p.D987D	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	987	Laminin EGF-like 9.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.K986I(1)|p.D987N(1)		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)		CAAAGTAATGGTCTTTGCATT	0.388000										HNSCC(13;0.011)				107			18		0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198711126	198711126	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:198711126C>T	uc001gur.1	+	23	2706	c.2526C>T	c.(2524-2526)ttC>ttT	p.F842F	PTPRC_uc001gut.1_Silent_p.F681F	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	842	Tyrosine-protein phosphatase 1.				B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TCAGCAATTTCTTCAGTGGTC	0.473000														21			12		0	0	1	0	0
CHST11	50515	broad.mit.edu	37	12	105151336	105151336	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:105151336C>T	uc001tkz.3	+	2	1312	c.814C>T	c.(814-816)Cac>Tac	p.H272Y	CHST11_uc001tky.3_Missense_Mutation_p.H267Y	NM_018413	NP_060883	Q9NPF2	CHSTB_HUMAN	Homo sapiens carbohydrate (chondroitin 4) sulfotransferase 11 (CHST11), transcript variant 1, mRNA.	272					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|chondroitin 4-sulfotransferase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						CTGCCACATCCACTATGACCT	0.557000														24			8		0	0	1	0	0
TOP2B	7155	broad.mit.edu	37	3	25665134	25665134	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:25665134G>A	uc011awn.1	-	20	2642	c.2599C>T	c.(2599-2601)Ccc>Tcc	p.P867S	TOP2B_uc003cdj.2_Missense_Mutation_p.P862S|TOP2B_uc021wug.1_Missense_Mutation_p.P862S	NM_001068	NP_001059	Q02880	TOP2B_HUMAN	Homo sapiens topoisomerase (DNA) II beta 180kDa (TOP2B), mRNA.	867					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	DNA topoisomerase complex (ATP-hydrolyzing)|WINAC complex|cytosol|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|chromatin binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						AAAACCATGGGAATTATAGGA	0.403000														39			11		0	0	1	0	0
ATP2C1	27032	broad.mit.edu	37	3	130694321	130694321	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:130694321C>A	uc011bli.2	+	16	1957	c.1661C>A	c.(1660-1662)gCg>gAg	p.A554E	ATP2C1_uc011blg.2_Missense_Mutation_p.A554E|ATP2C1_uc011blh.2_Missense_Mutation_p.A515E|ATP2C1_uc003enk.3_Missense_Mutation_p.A504E|ATP2C1_uc003enl.3_Missense_Mutation_p.A520E|ATP2C1_uc003enm.3_Missense_Mutation_p.A520E|ATP2C1_uc003enn.3_Missense_Mutation_p.A504E|ATP2C1_uc003eno.3_Missense_Mutation_p.A520E|ATP2C1_uc003enp.3_Missense_Mutation_p.A520E|ATP2C1_uc003ent.3_Missense_Mutation_p.A520E|ATP2C1_uc003ens.3_Missense_Mutation_p.A520E|ATP2C1_uc003enu.3_Missense_Mutation_p.A198E	NM_001199180	NP_001186109	P98194	AT2C1_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 1 (ATP2C1), transcript variant 6, mRNA.	520					ATP biosynthetic process|Golgi calcium ion homeostasis|Golgi calcium ion transport|actin cytoskeleton reorganization|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	ATGGGCTCAGCGGGACTCAGA	0.473000									Hailey-Hailey disease					23			7		0.00307968	0.00308475	1	1	0
ABCA7	10347	broad.mit.edu	37	19	1057385	1057385	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:1057385C>T	uc002lqw.4	+	34	5068	c.4837C>T	c.(4837-4839)Cct>Tct	p.P1613S	ABCA7_uc002lqy.3_Missense_Mutation_p.P84S|ABCA7_uc010dsc.3_5'Flank	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.	1613					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|Golgi membrane|endosome membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		ATATGTGGCCCCTGCCAACCT	0.542000														68			26		0	0	1	0	0
PJA2	9867	broad.mit.edu	37	5	108691661	108691661	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:108691661G>A	uc003kos.4	-	6	1939	c.1719C>T	c.(1717-1719)ttC>ttT	p.F573F		NM_014819	NP_055634	O43164	PJA2_HUMAN	Homo sapiens praja ring finger 2 (PJA2), mRNA.	573	Interaction with PRKAR1A, PRKAR2A and PRKAR2B.				long-term memory|regulation of protein kinase A signaling cascade	Golgi membrane|cell junction|endoplasmic reticulum membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		TGTAGGTAAGGAACTGAGGAT	0.373000														40			30		0	0	1	0	0
RSRC1	51319	broad.mit.edu	37	3	158261980	158261980	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:158261980C>T	uc003fbt.3	+	9	1032	c.921C>T	c.(919-921)atC>atT	p.I307I	RSRC1_uc003fbv.3_Silent_p.I249I	NM_016625	NP_057709	Q96IZ7	RSRC1_HUMAN	Homo sapiens arginine/serine-rich coiled-coil 1 (RSRC1), mRNA.	307					nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding	p.I307M(2)		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)			AGTTATTTATCGAGAAAGCTG	0.333000														50			27		0	0	1	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762616	130762616	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:130762616C>T	uc003qcb.3	+	1	3427	c.1049C>T	c.(1048-1050)tCc>tTc	p.S350F	TMEM200A_uc003qca.3_Missense_Mutation_p.S350F|TMEM200A_uc010kfh.3_Missense_Mutation_p.S350F|TMEM200A_uc010kfi.3_Missense_Mutation_p.S350F|TMEM200A_uc021zfg.1_Missense_Mutation_p.S350F	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	Homo sapiens transmembrane protein 200A (TMEM200A), mRNA.	350						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		AGGAATAATTCCATTGGGGAG	0.522000														15			11		0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61611576	61611576	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:61611576C>T	uc002jay.3	+	4	1085	c.1005C>T	c.(1003-1005)cgC>cgT	p.R335R	KCNH6_uc002jax.1_Silent_p.R335R|KCNH6_uc010wpl.2_Silent_p.R212R|KCNH6_uc010wpm.2_Silent_p.R335R|KCNH6_uc002jaz.1_Silent_p.R335R	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	335					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	GCCACCCCCGCCGCATCGCCG	0.567000														63			15		0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33624432	33624432	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:33624432C>T	uc003jia.1	-	13	2210	c.2047G>A	c.(2047-2049)Gat>Aat	p.D683N	ADAMTS12_uc010iuq.1_Intron	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	683	Cys-rich.				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						GCATTGGAATCGATCTCATAG	0.527000										HNSCC(64;0.19)				33			7		0	0	1	0	0
IL12A	3592	broad.mit.edu	37	3	159707958	159707958	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:159707958C>T	uc003fcx.3	+	1	344	c.123C>T	c.(121-123)ctC>ctT	p.L41L	AK097161_uc003fcw.1_Intron	NM_000882	NP_000873	P29459	IL12A_HUMAN	Homo sapiens interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35) (IL12A), mRNA.	7					cell cycle arrest|cell migration|defense response to Gram-positive bacterium|immune response|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of NK T cell activation|positive regulation of T cell mediated cytotoxicity|positive regulation of cell adhesion|positive regulation of interferon-gamma production|positive regulation of natural killer cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of smooth muscle cell apoptosis|positive regulation of tyrosine phosphorylation of Stat4 protein|response to UV-B|response to lipopolysaccharide|response to virus	interleukin-12 complex	cytokine activity|growth factor activity|interleukin-12 receptor binding|interleukin-27 binding|protein heterodimerization activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	9			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TTCCAGGCCTCCTCCTTGTGG	0.602000														36			20		0	0	1	0	0
FAM160B1	57700	broad.mit.edu	37	10	116606080	116606080	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:116606080C>T	uc001lcb.3	+	9	1687	c.1352C>T	c.(1351-1353)cCt>cTt	p.P451L	FAM160B1_uc001lcc.3_Missense_Mutation_p.P451L	NM_020940	NP_065991	Q5W0V3	F16B1_HUMAN	Homo sapiens family with sequence similarity 160, member B1 (FAM160B1), transcript variant 1, mRNA.	451										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						AGCAGACATCCTTTAAGGCAT	0.378000														33			25		0	0	1	0	0
SKAP1	8631	broad.mit.edu	37	17	46259804	46259804	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:46259804G>A	uc002ini.1	-	7	695	c.583C>T	c.(583-585)Cca>Tca	p.P195S	SKAP1_uc002inj.1_Missense_Mutation_p.P195S|SKAP1_uc010dbd.1_Missense_Mutation_p.P101S|SKAP1_uc010dbe.1_Missense_Mutation_p.P195S	NM_003726	NP_003717	Q86WV1	SKAP1_HUMAN	Homo sapiens src kinase associated phosphoprotein 1 (SKAP1), transcript variant 1, mRNA.	195	PH.				T cell receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|plasma membrane	SH2 domain binding|antigen binding|protein kinase binding			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						GCTTCTGCTGGACTAGTAGCT	0.378000														106			83		0	0	1	0	0
MAGEA1	4100	broad.mit.edu	37	X	152482500	152482500	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:152482500G>A	uc022chs.1	-	0	511	c.511C>T	c.(511-513)Ctt>Ttt	p.L171F	MAGEA1_uc004fhf.2_Missense_Mutation_p.L171F	NM_004988	NP_004979	P43355	MAGA1_HUMAN	Homo sapiens melanoma antigen family A, 1 (directs expression of antigen MZ2-E) (MAGEA1), mRNA.	171	MAGE.					cytoplasm|plasma membrane		p.L171F(2)		breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGGTGACAAGGACATAGGAG	0.517000														17			81		0	0	1	0	0
AMPH	273	broad.mit.edu	37	7	38431577	38431577	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:38431577G>A	uc003tgu.3	-	18	1866	c.1650C>T	c.(1648-1650)aaC>aaT	p.N550N	AMPH_uc003tgv.3_Silent_p.N508N|AMPH_uc003tgt.3_Silent_p.N435N|AMPH_uc003tgw.1_Silent_p.N573N|AMPH_uc010kxl.1_Non-coding_Transcript	NM_001635	NP_001626	P49418	AMPH_HUMAN	Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA.	550					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						CCTCTTCATGGTTGGAGGCAG	0.587000														45			22		0	0	1	0	0
CSNK1G2	1455	broad.mit.edu	37	19	1978999	1978999	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:1978999G>A	uc002lul.4	+	5	1111	c.589G>A	c.(589-591)Gac>Aac	p.D197N	CSNK1G2_uc010dsu.3_Missense_Mutation_p.D149N	NM_001319	NP_001310	P78368	KC1G2_HUMAN	Homo sapiens casein kinase 1, gamma 2 (CSNK1G2), mRNA.	197	Protein kinase.				Wnt receptor signaling pathway|sphingolipid metabolic process	cytosol	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1)	8		Ovarian(11;2.11e-07)|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)		GGAGTACATCGACCCCGAGAC	0.642000														36			11		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106970922	106970922	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:106970922G>A	uc001kyi.1	+	16	2516	c.2289G>A	c.(2287-2289)gaG>gaA	p.E763E	SORCS3_uc010qqz.1_Non-coding_Transcript	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	763						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)		GACATGGGGAGAGCCAGTGTG	0.448000														19			6		0	0	1	0	0
MORN5	254956	broad.mit.edu	37	9	124936863	124936863	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:124936863G>A	uc011lyn.2	+	3	458	c.396G>A	c.(394-396)acG>acA	p.T132T	MORN5_uc011lyo.1_Missense_Mutation_p.R95Q|MORN5_uc004blw.2_Silent_p.T132T	NM_198469	NP_940871	Q5VZ52	MORN5_HUMAN	Homo sapiens MORN repeat containing 5 (MORN5), mRNA.	132										endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	9						ACCCAGTCACGAGGGTAGTCA	0.468000														39			29		0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98508732	98508732	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:98508732C>T	uc003upp.3	+	16	2054	c.1845C>T	c.(1843-1845)atC>atT	p.I615I	TRRAP_uc011kis.2_Silent_p.I615I|TRRAP_uc003upr.3_Silent_p.I307I	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	615					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)			AGACATACATCCGTGTGGCCA	0.453000														28			21		0	0	1	0	0
SLC26A3	1811	broad.mit.edu	37	7	107430113	107430114	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:107430113_107430114CC>TT	uc003ver.2	-	5	801_802	c.590_591GG>AA	c.(589-591)cgg>cAA	p.R197Q	SLC26A3_uc003ves.2_Missense_Mutation_p.R162Q	NM_000111	NP_000102	P40879	S26A3_HUMAN	Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.	197					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						CAAATCCAATCCGCAGAATCCC	0.416000														14			5		0	0	1	0	0
TCTN3	26123	broad.mit.edu	37	10	97452723	97452723	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:97452723G>A	uc001klb.4	-	2	697	c.453C>T	c.(451-453)ttC>ttT	p.F151F	TCTN3_uc010qoi.2_Silent_p.F151F|TCTN3_uc001kld.3_Silent_p.F169F|TCTN3_uc009xux.1_5'UTR|TCTN3_uc009xuy.1_Non-coding_Transcript	NM_015631	NP_056446	Q6NUS6	TECT3_HUMAN	Homo sapiens tectonic family member 3 (TCTN3), transcript variant 1, mRNA.	151					apoptosis	integral to membrane		p.E151Q(1)		breast(3)|endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Colorectal(252;0.0815)		Epithelial(162;1.69e-07)|all cancers(201;5.63e-06)		TAGAATCCATGAAAACTCTTG	0.398000														20			9		0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7574003	7574003	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:7574003G>A	uc002gim.2	-	9	1218	c.1024C>T	c.(1024-1026)Cga>Tga	p.R342*	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Intron|TP53_uc010cne.1_Intron|TP53_uc010cng.1_3'UTR|TP53_uc010cnf.1_3'UTR|TP53_uc002gii.1_Nonsense_Mutation_p.R210*|TP53_uc010cni.1_3'UTR|TP53_uc010cnh.1_3'UTR|TP53_uc002gij.2_Nonsense_Mutation_p.R342*|DL476313_uc021tpe.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	342	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		R -> L (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R342*(132)|p.R342fs*3(17)|p.0?(8)|p.R342P(3)|p.R342_N345delRELN(2)|p.R342Q(2)|p.?(1)|p.F341fs*4(1)|p.F341C(1)|p.I332fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTCAGCTCTCGGAACATCTCG	0.557000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				6			13		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61926616	61926616	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:61926616C>T	uc001jky.3	-	21	2855	c.2517G>A	c.(2515-2517)acG>acA	p.T839T	ANK3_uc001jkx.3_Silent_p.T17T|ANK3_uc010qih.2_Silent_p.T822T|ANK3_uc001jkz.4_Silent_p.T833T|ANK3_uc001jlb.1_Silent_p.T368T|ANK3_uc001jlc.1_Silent_p.T500T	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	839					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						CTTCATTCATCGTTTCTGGAA	0.333000														26			18		0	0	1	0	0
P4HB	5034	broad.mit.edu	37	17	79803104	79803104	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:79803104G>A	uc002kbn.1	-	9	1559	c.1362C>T	c.(1360-1362)gtC>gtT	p.V454V	P4HB_uc002kbl.1_Silent_p.V131V|P4HB_uc002kbm.1_Silent_p.V131V	NM_000918	NP_000909	P07237	PDIA1_HUMAN	Homo sapiens prolyl 4-hydroxylase, beta polypeptide (P4HB), mRNA.	454	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	ER-Golgi intermediate compartment|cell surface|endoplasmic reticulum lumen|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	p.T453A(1)		NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			TGTAATCAATGACCTGTGGAA	0.597000														24			3		0	0	1	0	0
WRAP53	55135	broad.mit.edu	37	17	7605836	7605836	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:7605836C>T	uc010vuh.2	+	7	1285	c.1130C>T	c.(1129-1131)cCc>cTc	p.P377L	WRAP53_uc010vui.2_Missense_Mutation_p.P377L|WRAP53_uc002gip.3_Missense_Mutation_p.P377L|WRAP53_uc002gir.3_Missense_Mutation_p.P377L|WRAP53_uc002giq.3_Non-coding_Transcript|WRAP53_uc010cnl.3_Missense_Mutation_p.P344L|EFNB3_uc002gis.3_5'Flank	NM_001143990	NP_060551	Q9BUR4	WAP53_HUMAN	Homo sapiens WD repeat containing, antisense to TP53 (WRAP53), transcript variant 2, mRNA.	377					positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	RNA binding|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						TGCTTTCATCCCGATGGCAAC	0.642000														7			10		0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103358598	103358598	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:103358598G>A	uc003ykr.2	-	6	1057	c.602C>T	c.(601-603)tCc>tTc	p.S201F	UBR5_uc003yks.2_Missense_Mutation_p.S201F	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	201					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GACACTTCTGGATTTGCCTTG	0.333000														71			14		0	0	1	0	0
EIF4G2	1982	broad.mit.edu	37	11	10822290	10822290	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:10822290G>A	uc001mjb.3	-	15	2166	c.1014C>T	c.(1012-1014)ctC>ctT	p.L338L	EIF4G2_uc009ygf.3_Silent_p.L544L|EIF4G2_uc001mjc.3_Silent_p.L338L|EIF4G2_uc001mjd.3_Silent_p.L506L	NM_001418	NP_001409	P78344	IF4G2_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 2 (EIF4G2), transcript variant 1, mRNA.	544					RNA metabolic process|cell cycle arrest|cell death|regulation of translational initiation	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TTAGTTTAAGGAGTTCTTCCT	0.383000														50			9		0	0	1	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	17939556	17939556	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:17939556T>C	uc001ban.3	+	7	772	c.613T>C	c.(613-615)Tct>Cct	p.S205P	ARHGEF10L_uc009vpe.1_Intron|ARHGEF10L_uc001bao.3_Intron|ARHGEF10L_uc001bap.3_Intron|ARHGEF10L_uc010ocr.1_Intron|ARHGEF10L_uc001baq.3_5'Flank	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10-like (ARHGEF10L), transcript variant 1, mRNA.	205					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		GCTCCAGCTTTCTCCAGACCT	0.547000														131			21		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117768518	117768518	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:117768518G>A	uc001twn.2	-	1	1068	c.357C>T	c.(355-357)acC>acT	p.T119T	NOS1_uc001twm.2_Silent_p.T119T	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	119	Interaction with NOSIP (By similarity).				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TCACCCGGATGGTCTTGGGGG	0.637000														39			15		0	0	1	0	0
C16orf89	146556	broad.mit.edu	37	16	5110367	5110367	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:5110367C>T	uc010bud.3	-	2	666	c.429G>A	c.(427-429)ttG>ttA	p.L143L	ALG1_uc002cyj.3_Intron|C16orf89_uc002cyk.4_Silent_p.L143L	NM_152459	NP_689672	Q6UX73	CP089_HUMAN	Homo sapiens chromosome 16 open reading frame 89 (C16orf89), transcript variant 1, mRNA.	143						extracellular region		p.L181L(2)|p.Q142*(1)|p.L143L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						TGGGGTACACCAAGGAGGCAT	0.617000														37			17		0	0	1	0	0
SLC29A1	2030	broad.mit.edu	37	6	44197193	44197193	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:44197193C>T	uc003oww.1	+	3	525	c.333C>T	c.(331-333)ttC>ttT	p.F111F	SLC29A1_uc021yzw.1_Silent_p.F32F|SLC29A1_uc011dvp.1_Silent_p.F51F|SLC29A1_uc003owu.1_Silent_p.F32F|SLC29A1_uc003owv.1_Silent_p.F32F|SLC29A1_uc011dvq.1_Silent_p.F74F|SLC29A1_uc003owx.1_Silent_p.F32F|SLC29A1_uc003owy.1_Silent_p.F32F|SLC29A1_uc003owz.1_Silent_p.F32F|SLC29A1_uc021yzx.1_Silent_p.F32F	NM_004955	NP_004946	Q99808	S29A1_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 1 (SLC29A1), nuclear gene encoding mitochondrial protein, transcript variant 5, mRNA.	32					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	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)		Troglitazone(DB00197)	GGAATTTTTTCATGACGGCCA	0.552000														42			38		0	0	1	0	0
AQP9	366	broad.mit.edu	37	15	58467161	58467161	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:58467161G>A	uc002aez.2	+	3	778	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K	ALDH1A2_uc010ugw.2_Intron|AQP9_uc010ugx.1_Missense_Mutation_p.E76K	NM_020980	NP_066190	O43315	AQP9_HUMAN	Homo sapiens aquaporin 9 (AQP9), mRNA.	141					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)		GATCGTGGGAGAAAATGCAAC	0.443000														32			44		0	0	1	0	0
CADM2	253559	broad.mit.edu	37	3	86010722	86010722	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:86010722G>A	uc003dql.3	+	6	874	c.874G>A	c.(874-876)Gat>Aat	p.D292N	CADM2_uc003dqj.3_Missense_Mutation_p.D290N|CADM2_uc003dqk.3_Missense_Mutation_p.D299N|CADM2_uc003dqm.2_Missense_Mutation_p.D182N|CADM2_uc021xay.1_Missense_Mutation_p.D182N|CADM2_uc021xaz.1_Missense_Mutation_p.D182N|CADM2_uc021xba.1_Missense_Mutation_p.D182N	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	Homo sapiens cell adhesion molecule 2 (CADM2), transcript variant 3, mRNA.	290	Ig-like C2-type 2.				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)		GAACAAAACGGATAATGGTAC	0.418000														43			15		0	0	1	0	0
GK	2710	broad.mit.edu	37	4	166199844	166199844	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:166199844C>T	uc003ird.3	-	0	1332	c.954G>A	c.(952-954)ttG>ttA	p.L318L	KLHL2_uc003irb.3_Intron|KLHL2_uc011cjm.2_Intron|KLHL2_uc003irc.3_Intron|KLHL2_uc010ira.3_Intron	NM_000167	NP_000158	P32189	GLPK_HUMAN	Homo sapiens glycerol kinase (GK), transcript variant 2, mRNA.	324					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity			central_nervous_system(1)|large_intestine(3)	4						CAGAACCTTCCAAAGCGTAAT	0.398000														35			15		0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14487582	14487582	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:14487582C>T	uc003jff.3	+	47	6851	c.6845C>T	c.(6844-6846)tCg>tTg	p.S2282L	TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc003jfh.1_Missense_Mutation_p.S1931L	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	2282					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)					GCCTTGACATCGCCAATCGAG	0.736000														21			26		0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31294925	31294925	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:31294925G>A	uc021sia.1	-	26	4343	c.4029C>T	c.(4027-4029)ttC>ttT	p.F1343F	TRPM1_uc010azy.3_Silent_p.F1211F|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Silent_p.F1326F|TRPM1_uc001zfm.3_Silent_p.F1304F	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	1304					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CCTTTATACGGAAGGAACAGG	0.453000														69			40		0	0	1	0	0
KLHDC1	122773	broad.mit.edu	37	14	50176463	50176463	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:50176463C>T	uc001www.3	+	2	294	c.204C>T	c.(202-204)tcC>tcT	p.S68S	NEMF_uc010anj.1_Intron|KLHDC1_uc010tqg.2_Missense_Mutation_p.P32L|KLHDC1_uc010tqh.2_Silent_p.S11S	NM_172193	NP_751943	Q8N7A1	KLDC1_HUMAN	Homo sapiens kelch domain containing 1 (KLHDC1), mRNA.	68						cytoplasm				kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	12	all_epithelial(31;0.00244)|Breast(41;0.00964)					TCCCAGCCTCCATGTCAGGAA	0.388000														10			22		0	0	1	0	0
BC063132	0	broad.mit.edu	37	GL000241.1	36816	36816	+	RNA	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrGL000241.1:36816C>T	uc011mgv.2	-	0		c.60G>A								Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors.																		AGGCTGAAGCCGGCTCAGGAC	0.582000														18			3		0	0	1	0	0
OR4D2	124538	broad.mit.edu	37	17	56247766	56247766	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:56247766C>T	uc010wnp.2	+	0	750	c.750C>T	c.(748-750)atC>atT	p.I250I		NM_001004707	NP_001004707	P58180	OR4D2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 2 (OR4D2), mRNA.	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						TTTCCATGATCTTCGTTCCAA	0.537000														100			37		0	0	1	0	0
LOC440041	440041	broad.mit.edu	37	11	55065549	55065549	+	RNA	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:55065549G>A	uc021qjb.1	-	0		c.160C>T			LOC440041_uc001nhl.1_Non-coding_Transcript					Homo sapiens SPRY domain containing 5 pseudogene (LOC440041), non-coding RNA.																		ACAAATGTCAGTGTTGAGGTT	0.478000														9			9		0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35644898	35644898	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr13:35644898C>T	uc021rid.1	+	9	2014	c.1480C>T	c.(1480-1482)Cat>Tat	p.H494Y	NBEA_uc021ric.1_Missense_Mutation_p.H494Y	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	494						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	p.H494Y(2)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TAGTGCAATTCATTCAATTGG	0.333000														33			13		0	0	1	0	0
FAM71A	149647	broad.mit.edu	37	1	212798958	212798958	+	RNA	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:212798958G>A	uc010pth.1	-	0		c.1156C>T			FAM71A_uc001hjk.3_Missense_Mutation_p.D247N			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)		ACTCCAAAATGACTTTAACAA	0.537000														83			70		0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153190634	153190634	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:153190634C>T	uc011dcy.2	+	15	2627	c.2600C>T	c.(2599-2601)tCg>tTg	p.S867L	GRIA1_uc003lva.4_Missense_Mutation_p.S857L|GRIA1_uc003luy.4_Missense_Mutation_p.S857L|GRIA1_uc003luz.4_Missense_Mutation_p.S762L|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.S777L|GRIA1_uc011dcx.2_Missense_Mutation_p.S788L|GRIA1_uc011dcz.2_Missense_Mutation_p.S867L	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	857				AGA -> TAP (in Ref. 1; AAA58613).	synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.G866*(1)|p.A867S(1)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ATACGGACATCGACCCTCCCC	0.587000														44			35		0	0	1	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81061902	81061902	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:81061902C>T	uc001kaf.2	+	17	2630	c.2058C>T	c.(2056-2058)tcC>tcT	p.S686S	ZMIZ1_uc001kag.2_Silent_p.S562S	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.	686					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)			ACCGGCCCTCCGTCCGCTCTG	0.647000														158			34		0	0	1	0	0
C1orf106	55765	broad.mit.edu	37	1	200869279	200869279	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:200869279A>T	uc001gvo.3	+	3	525	c.483A>T	c.(481-483)gaA>gaT	p.E161D	C1orf106_uc010ppm.2_Missense_Mutation_p.E76D	NM_018265	NP_001136041	Q3KP66	CA106_HUMAN	Homo sapiens chromosome 1 open reading frame 106 (C1orf106), transcript variant 1, mRNA.	161										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						AACCAGGGGAAAAGGCCCCCA	0.622000														26			10		0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119952886	119952886	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:119952886G>A	uc010inb.3	+	3	3152	c.2956G>A	c.(2956-2958)Gat>Aat	p.D986N	SYNPO2_uc010ina.3_Missense_Mutation_p.D986N|SYNPO2_uc003icm.4_Missense_Mutation_p.D986N|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Missense_Mutation_p.D914N|SYNPO2_uc021xrd.1_5'Flank	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	986						Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AGATGCAAAGGATGGCCTCCC	0.498000														25			16		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124359881	124359881	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:124359881G>A	uc001uft.4	+	45	7713	c.7688G>A	c.(7687-7689)cGa>cAa	p.R2563Q		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	2563	AAA 3 (By similarity).				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)		AAAAGCATTCGAGACCTTGGC	0.468000														18			4		0	0	1	0	0
UPK3A	7380	broad.mit.edu	37	22	45691461	45691461	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:45691461G>A	uc003bfy.3	+	5	752	c.725G>A	c.(724-726)gGg>gAg	p.G242E	UPK3A_uc010gzy.3_Missense_Mutation_p.G121E	NM_006953	NP_008884	O75631	UPK3A_HUMAN	Homo sapiens uroplakin 3A (UPK3A), transcript variant 1, mRNA.	242					epithelial cell differentiation	endoplasmic reticulum membrane|integral to membrane				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		AGTTCTGATGGGGAAACGACT	0.582000														206			26		0	0	1	0	0
KLRC2	3822	broad.mit.edu	37	12	10569321	10569321	+	Missense_Mutation	SNP	G	A	A	rs138941727		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:10569321G>A	uc001qyi.1	-	4	577	c.532C>T	c.(532-534)Cgt>Tgt	p.R178C	KLRC2_uc001qyf.3_Missense_Mutation_p.R178C|KLRC2_uc021qvc.1_Missense_Mutation_p.R178C|KLRC2_uc001qyh.3_Missense_Mutation_p.R178C|KLRC2_uc021qvd.1_Missense_Mutation_p.R178C	NM_007333	NP_031359	P26717	NKG2C_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily C, member 3 (KLRC3), transcript variant 2, mRNA.	177	C-type lectin.				cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity	p.R178C(1)		kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						CTGCTGTTACGAAACACACCA	0.294000														27			4		0	0	1	0	0
DPPA3	359787	broad.mit.edu	37	12	7868018	7868018	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:7868018C>T	uc001qtf.3	+	1	400	c.322C>T	c.(322-324)Cgt>Tgt	p.R108C		NM_199286	NP_954980	Q6W0C5	DPPA3_HUMAN	Homo sapiens developmental pluripotency associated 3 (DPPA3), mRNA.	108						cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		CGGCGGAGTTCGTACGGTATG	0.483000														30			11		0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	401995	401995	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:401995C>T	uc003bot.3	+	11	1836	c.1194C>T	c.(1192-1194)ttC>ttT	p.F398F	CHL1_uc003bou.3_Silent_p.F382F|CHL1_uc003bow.2_Silent_p.F382F|CHL1_uc011asi.2_Silent_p.F398F	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.	382	Ig-like C2-type 4.				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)		ATGTTGTCTTCCCCAGGGAAA	0.373000														46			13		0	0	1	0	0
MCM10	55388	broad.mit.edu	37	10	13214639	13214639	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:13214639C>T	uc001ima.3	+	4	597	c.469C>T	c.(469-471)Cgg>Tgg	p.R157W	MCM10_uc001imb.3_Missense_Mutation_p.R156W|MCM10_uc001imc.3_Missense_Mutation_p.R156W	NM_182751	NP_877428	Q7L590	MCM10_HUMAN	Homo sapiens minichromosome maintenance complex component 10 (MCM10), transcript variant 1, mRNA.	157					DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						GAAGTCTCCCCGGCCACCTCT	0.463000														20			8		0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38482239	38482239	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:38482239G>A	uc010ive.1	-	19	3084	c.2752C>T	c.(2752-2754)Cct>Tct	p.P918S	LIFR_uc003jli.2_Missense_Mutation_p.P918S	NM_001127671	NP_002301	P42702	LIFR_HUMAN	Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA.	918					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)					TCTATTTTAGGAAATGCTGAT	0.398000			T	PLAG1	salivary adenoma									74			17		0	0	1	0	0
GABRA2	2555	broad.mit.edu	37	4	46305627	46305627	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:46305627C>T	uc011bzc.1	-	6	953	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K	GABRA2_uc003gxc.3_Missense_Mutation_p.E236K|GABRA2_uc010igc.2_Missense_Mutation_p.E236K|GABRA2_uc003gxe.3_Missense_Mutation_p.E236K			P47869	GBRA2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 2 (GABRA2), transcript variant 1, mRNA.	236					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ACAGTATATTCACCTGGAAGA	0.343000														34			8		0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6904145	6904145	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:6904145C>T	uc002mfw.3	+	7	939	c.901C>T	c.(901-903)Cat>Tat	p.H301Y	EMR1_uc010dvc.3_Missense_Mutation_p.H301Y|EMR1_uc010dvb.3_Missense_Mutation_p.H249Y|EMR1_uc010xji.2_Missense_Mutation_p.H160Y|EMR1_uc010xjj.2_Intron	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	301	EGF-like 6; calcium-binding (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TGCAGGCTTTCATCCCAATCC	0.473000														36			10		0	0	1	0	0
THOC5	8563	broad.mit.edu	37	22	29935384	29935384	+	Silent	SNP	G	C	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:29935384G>C	uc003afr.3	-	6	869	c.534C>G	c.(532-534)gtC>gtG	p.V178V	THOC5_uc003afs.3_Silent_p.V178V|THOC5_uc003aft.3_Silent_p.V178V|THOC5_uc003afu.3_Silent_p.V178V|THOC5_uc003afv.1_Silent_p.V178V|THOC5_uc003afw.1_Silent_p.V80V	NM_001002878	NP_003669	Q13769	THOC5_HUMAN	Homo sapiens THO complex 5 (THOC5), transcript variant 1, mRNA.	178	Interaction with THOC7.				RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing|monocyte differentiation|primitive hemopoiesis	THO complex part of transcription export complex|cytoplasm|intermediate filament cytoskeleton	RNA binding|protein binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTCCCATGGTGACTTCGGCCT	0.483000														33			33		0	0	1	0	0
MCM5	4174	broad.mit.edu	37	22	35804452	35804452	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:35804452C>T	uc003anu.4	+	5	742	c.648C>T	c.(646-648)ccC>ccT	p.P216P	MCM5_uc003anv.4_Silent_p.P173P|MCM5_uc010gws.2_Non-coding_Transcript|MCM5_uc003anw.1_5'Flank	NM_006739	NP_006730	P33992	MCM5_HUMAN	Homo sapiens minichromosome maintenance complex component 5 (MCM5), mRNA.	216					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|DNA binding|helicase activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						TCATCATGCCCGACAAATGCA	0.557000														54			16		0	0	1	0	0
PPAP2B	8613	broad.mit.edu	37	1	56977725	56977725	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:56977725G>A	uc001cyj.2	-	4	1301	c.733C>T	c.(733-735)Cgc>Tgc	p.R245C		NM_003713	NP_003704	O14495	LPP3_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2B (PPAP2B), mRNA.	245					canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process	Golgi apparatus|adherens junction|integral to membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						TCTGATACGCGAGACAGTCCC	0.572000														44			11		0	0	1	0	0
PEX5L	51555	broad.mit.edu	37	3	179605524	179605524	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:179605524C>T	uc003fki.1	-	3	377	c.247G>A	c.(247-249)Gat>Aat	p.D83N	PEX5L_uc011bqd.1_Missense_Mutation_p.D40N|PEX5L_uc011bqe.1_5'UTR|PEX5L_uc011bqf.1_Missense_Mutation_p.D40N|PEX5L_uc003fkj.1_Missense_Mutation_p.D48N|PEX5L_uc010hxd.1_Missense_Mutation_p.D81N|PEX5L_uc011bqg.1_Missense_Mutation_p.D59N|PEX5L_uc011bqh.1_Missense_Mutation_p.D24N	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	Homo sapiens peroxisomal biogenesis factor 5-like (PEX5L), mRNA.	83					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			AGAAAGTCATCGATGGAGGGA	0.443000														111			31		0	0	1	0	0
IPPK	64768	broad.mit.edu	37	9	95400352	95400352	+	Missense_Mutation	SNP	G	A	A	rs34857351		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:95400352G>A	uc004asl.1	-	8	1124	c.847C>T	c.(847-849)Ccg>Tcg	p.P283S	IPPK_uc004ask.1_5'Flank	NM_022755	NP_073592	Q9H8X2	IPPK_HUMAN	Homo sapiens inositol 1,3,4,5,6-pentakisphosphate 2-kinase (IPPK), mRNA.	283					inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity	p.P283A(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						CCGAGCCCCGGACTCAGGGTG	0.682000														15			7		0	0	1	0	0
ZNF808	388558	broad.mit.edu	37	19	53057054	53057054	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:53057054C>T	uc010epq.1	+	4	1062	c.885C>T	c.(883-885)tcC>tcT	p.S295S	ZNF808_uc002pzq.2_Non-coding_Transcript|ZNF808_uc010epr.2_5'Flank	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN	Homo sapiens zinc finger protein 808 (ZNF808), mRNA.	295					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		GTGGAAAGTCCTTCAGTTACA	0.408000														72			23		0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33585423	33585423	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:33585423G>A	uc002xbi.2	+	31	4170	c.3853G>A	c.(3853-3855)Gag>Aag	p.E1285K		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	1243						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)			TGCCAACGTGGAGACTCTGAC	0.622000														29			20		0	0	1	0	0
HIP1R	9026	broad.mit.edu	37	12	123340686	123340686	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:123340686C>T	uc001udj.1	+	13	1347	c.1288C>T	c.(1288-1290)Cag>Tag	p.Q430*	HIP1R_uc001udg.1_Nonsense_Mutation_p.Q418*|HIP1R_uc001udi.1_Nonsense_Mutation_p.Q430*|HIP1R_uc001udk.1_5'UTR	NM_003959	NP_003950	O75146	HIP1R_HUMAN	Homo sapiens huntingtin interacting protein 1 related (HIP1R), mRNA.	430					receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		CGAGCGGAGCCAGGGCCTGCG	0.692000														12			6		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54630558	54630558	+	Splice_Site	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:54630558G>A	uc021smr.1	+	15	4579	c.4579_splice	c.e15-1	p.V1527_splice	UNC13C_uc021sms.1_Splice_Site_p.V1529_splice|UNC13C_uc002acl.3_Splice_Site_p.V359_splice	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1529					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GTCTTTGTCAGGTTCTGGAGC	0.383000														64			16		0	0	1	0	0
CCR8	1237	broad.mit.edu	37	3	39374607	39374607	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:39374607C>T	uc010hhr.2	+	1	923	c.785C>T	c.(784-786)tCc>tTc	p.S262F	CCR8_uc003cjm.2_Missense_Mutation_p.S179F|CCR8_uc021wwe.1_Missense_Mutation_p.S262F	NM_005201	NP_005192	P51685	CCR8_HUMAN	Homo sapiens chemokine (C-C motif) receptor 8 (CCR8), mRNA.	262					cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity	p.S262F(2)		NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		TTCCTCACTTCCTTGCACAGT	0.453000														35			13		0	0	1	0	0
CYTH4	27128	broad.mit.edu	37	22	37707513	37707513	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:37707513G>A	uc003arf.3	+	10	1018	c.902G>A	c.(901-903)gGa>gAa	p.G301E	CYTH4_uc011amw.2_Missense_Mutation_p.G244E	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN	Homo sapiens cytohesin 4 (CYTH4), mRNA.	301	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						GAGCCACGGGGAATTATACCT	0.587000														34			8		0	0	1	0	0
IL28A	282616	broad.mit.edu	37	19	39760141	39760141	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:39760141C>T	uc002oku.1	+	3	336	c.284C>T	c.(283-285)cCc>cTc	p.P95L		NM_172138	NP_742150	Q8IZJ0	IL28A_HUMAN	Homo sapiens interleukin 28A (interferon, lambda 2) (IL28A), mRNA.	95					response to virus	extracellular space	cytokine activity			cervix(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|skin(1)	6	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;5.39e-26)|all cancers(26;4.1e-23)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			AGGGAGCGCCCCATGGCTTTG	0.622000														8			7		0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167163512	167163512	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:167163512G>A	uc010fpl.3	-	2	672	c.331C>T	c.(331-333)Cct>Tct	p.P111S	SCN9A_uc002udr.1_5'Flank|SCN9A_uc002uds.1_5'Flank|SCN9A_uc002udt.1_5'Flank	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	111						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	GGACTGAAAGGAGAAAGCATA	0.333000														5			13		0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33577572	33577572	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:33577572G>A	uc002xbi.2	+	19	2060	c.1743G>A	c.(1741-1743)gaG>gaA	p.E581E	MIR499A_uc021wcg.1_5'Flank	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	539	Myosin head-like.					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)			TCCTGGAGGAGGAATGCATGT	0.592000														49			10		0	0	1	0	0
KRT13	3860	broad.mit.edu	37	17	39661325	39661325	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:39661325C>T	uc002hwu.1	-	0	541	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K	KRT13_uc002hwv.1_Missense_Mutation_p.E160K|KRT13_uc010wfr.2_Missense_Mutation_p.E53K|KRT13_uc010cxo.3_Missense_Mutation_p.E160K|KRT13_uc021txk.1_Missense_Mutation_p.E53K	NM_153490	NP_705694	P13646	K1C13_HUMAN	Homo sapiens keratin 13 (KRT13), transcript variant 1, mRNA.	160	Coil 1B.|Rod.				epidermis development	intermediate filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				CGGAGCTCTTCAATGGTCTTG	0.597000														40			8		0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1269605	1269605	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:1269605G>A	uc003boz.3	+	3	553	c.286G>A	c.(286-288)Ggc>Agc	p.G96S	CNTN6_uc010hbo.2_Missense_Mutation_p.G91S|CNTN6_uc011asj.2_Missense_Mutation_p.G24S|CNTN6_uc003bpa.3_Missense_Mutation_p.G96S	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	96	Ig-like C2-type 1.				Notch signaling pathway|axon guidance|cell adhesion|central nervous system development	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TCAAGATATTGGCATGTACCA	0.438000														67			20		0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	117024753	117024753	+	Splice_Site	SNP	G	A	A	rs114220247	byFrequency	TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:117024753G>A	uc001lcg.3	+	11	2158	c.1772_splice	c.e11+1	p.G591_splice		NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	Homo sapiens attractin-like 1 (ATRNL1), mRNA.	591						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AGTCATTAACGGGTAAAAGAA	0.323000														61			15		0	0	1	0	0
RLBP1	6017	broad.mit.edu	37	15	89753625	89753625	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:89753625T>A	uc002bnl.3	-	8	1225	c.845A>T	c.(844-846)gAg>gTg	p.E282V		NM_000326	NP_000317	P12271	RLBP1_HUMAN	Homo sapiens retinaldehyde binding protein 1 (RLBP1), mRNA.	282	CRAL-TRIO.				response to stimulus|visual perception|vitamin A metabolic process	cytoplasm|soluble fraction	retinol binding|transporter activity	p.D281N(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1)	18	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	CAGGATGTTCTCATCGATCTC	0.577000														106			7		0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111785626	111785626	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:111785626G>A	uc001tsa.2	+	21	4112	c.3958G>A	c.(3958-3960)Gag>Aag	p.E1320K		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	1320						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GGACTCAGGGGAGCTGGACAA	0.627000														59			21		0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108488514	108488514	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:108488514G>A	uc010ywk.2	+	19	4136	c.4054G>A	c.(4054-4056)Gaa>Aaa	p.E1352K	RGPD4_uc002tdu.3_Missense_Mutation_p.E539K|RGPD4_uc010ywl.2_Intron	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1352	RanBD1 2.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						CAGTGGTGAGGAAAATGAAAA	0.368000														58			116		0	0	1	0	0
KRT14	3861	broad.mit.edu	37	17	39740029	39740029	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:39740029C>T	uc002hxf.2	-	3	971	c.910G>A	c.(910-912)Gaa>Aaa	p.E304K	JUP_uc010wfs.2_Intron	NM_000526	NP_000517	P02533	K1C14_HUMAN	Homo sapiens keratin 14 (KRT14), mRNA.	304	Coil 2.|Rod.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				AAGAACCATTCCTCGGCATCC	0.547000														128			80		0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	73100387	73100387	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:73100387C>T	uc003pga.3	+	29	4531	c.4454C>T	c.(4453-4455)cCg>cTg	p.P1485L	RIMS1_uc011dyb.2_Missense_Mutation_p.P882L|RIMS1_uc003pgc.3_Missense_Mutation_p.P934L|RIMS1_uc010kaq.3_Missense_Mutation_p.P805L|RIMS1_uc011dyc.2_Missense_Mutation_p.P610L|RIMS1_uc010kar.3_Missense_Mutation_p.P553L|RIMS1_uc011dyd.2_Missense_Mutation_p.P619L|RIMS1_uc003pge.3_Missense_Mutation_p.P525L|RIMS1_uc003pgf.3_Missense_Mutation_p.P485L|RIMS1_uc003pgi.3_Missense_Mutation_p.P301L|RIMS1_uc003pgg.3_Missense_Mutation_p.P381L|RIMS1_uc003pgh.3_Missense_Mutation_p.P352L|RIMS1_uc003pgd.3_Missense_Mutation_p.P551L|RIMS1_uc011dye.2_Missense_Mutation_p.P291L|RIMS1_uc011dyf.2_Missense_Mutation_p.P109L|RIMS1_uc011dyg.2_Missense_Mutation_p.P12L	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	1485					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)				GTAAGGCAGCCGAGCCGAGAG	0.498000														13			10		0	0	1	0	0
ABLIM2	84448	broad.mit.edu	37	4	8082418	8082418	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:8082418G>A	uc003gko.3	-	4	709	c.566C>T	c.(565-567)gCc>gTc	p.A189V	ABLIM2_uc003gkm.4_Missense_Mutation_p.A189V|ABLIM2_uc003gkp.3_Missense_Mutation_p.A189V|ABLIM2_uc003gkq.3_Missense_Mutation_p.A189V|ABLIM2_uc003gkr.3_Missense_Mutation_p.A189V|ABLIM2_uc003gkj.4_Missense_Mutation_p.A189V|ABLIM2_uc003gks.3_Missense_Mutation_p.A189V|ABLIM2_uc011bwl.1_Missense_Mutation_p.A194V	NM_001130084	NP_001123556	Q6H8Q1	ABLM2_HUMAN	Homo sapiens actin binding LIM protein family, member 2 (ABLIM2), transcript variant 2, mRNA.	189	LIM zinc-binding 3.				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						GATGTACTCGGCATTCAGGAG	0.582000														8			4		0	0	1	0	0
CEACAM8	1088	broad.mit.edu	37	19	43097936	43097936	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:43097936C>T	uc002oud.2	-	1	283	c.181G>A	c.(181-183)Gac>Aac	p.D61N	AK311181_uc010eif.1_Intron|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron	NM_001816	NP_001807	P31997	CEAM8_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 8 (CEACAM8), mRNA.	61	Ig-like V-type.				immune response	anchored to membrane|extracellular space|integral to plasma membrane				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				CCACGAGGGTCCTGGGGCAGA	0.517000														71			36		0	0	1	0	0
WBP4	11193	broad.mit.edu	37	13	41650183	41650183	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr13:41650183C>T	uc001uxt.3	+	7	679	c.566C>T	c.(565-567)tCc>tTc	p.S189F	WBP4_uc010tfd.2_Missense_Mutation_p.S168F	NM_007187	NP_009118	O75554	WBP4_HUMAN	Homo sapiens WW domain binding protein 4 (formin binding protein 21) (WBP4), mRNA.	189	WW 2.				nuclear mRNA cis splicing, via spliceosome	nuclear speck|spliceosomal complex	nucleic acid binding|proline-rich region binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|prostate(1)|skin(1)	12		Lung NSC(96;3.55e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;3.11e-09)|Epithelial(112;3.37e-06)|OV - Ovarian serous cystadenocarcinoma(117;8.3e-05)|GBM - Glioblastoma multiforme(144;0.00102)|BRCA - Breast invasive adenocarcinoma(63;0.07)		TGAGCAGAATCCAGATGGGAG	0.318000														25			13		0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	67680207	67680207	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:67680207G>A	uc009xpn.1	-	17	2692	c.2569C>T	c.(2569-2571)Ccc>Tcc	p.P857S	CTNNA3_uc001jmw.2_Missense_Mutation_p.P857S	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	857					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	p.P857fs*4(3)		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						TTAATCAAGGGTTTTTTTGCA	0.468000														76			19		0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86313446	86313446	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:86313446C>T	uc001dlj.3	-	38	3439	c.3364G>A	c.(3364-3366)Gga>Aga	p.G1122R	COL24A1_uc001dli.3_Missense_Mutation_p.G258R|COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_Missense_Mutation_p.G422R|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	1122	Collagen-like 11.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CCTATTTGTCCTTTATCACCC	0.403000														38			18		0	0	1	0	0
RBM12	10137	broad.mit.edu	37	20	34241899	34241899	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:34241899A>T	uc021wcr.1	-	0	1346	c.1346T>A	c.(1345-1347)tTt>tAt	p.F449Y	CPNE1_uc010zvj.2_5'Flank|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_Missense_Mutation_p.F449Y|RBM12_uc002xds.3_Missense_Mutation_p.F449Y|RBM12_uc002xdr.3_Missense_Mutation_p.F449Y|RBM12_uc021wcq.1_Missense_Mutation_p.F449Y	NM_152838	NP_690051	Q9NTZ6	RBM12_HUMAN	Homo sapiens RNA binding motif protein 12 (RBM12), transcript variant 2, mRNA.	449	RRM 2.					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)			CTTTTTAAAAAAATCAATGAC	0.388000											OREG0004044	type=REGULATORY REGION|Gene=CPNE1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		72			17		0	0	1	0	0
LYPD3	27076	broad.mit.edu	37	19	43965657	43965657	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:43965657A>C	uc002owl.1	-	4	995	c.887T>G	c.(886-888)tTg>tGg	p.L296W	LYPD3_uc002owm.3_3'UTR	NM_014400	NP_055215	O95274	LYPD3_HUMAN	Homo sapiens LY6/PLAUR domain containing 3 (LYPD3), mRNA.	296						anchored to plasma membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				GCCTCCAGTCAACCTGGGCTC	0.627000														34			15		0	0	1	0	0
TRPM7	54822	broad.mit.edu	37	15	50888521	50888521	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:50888521G>A	uc001zyt.4	-	22	3503	c.3221C>T	c.(3220-3222)cCa>cTa	p.P1074L	TRPM7_uc010bew.2_Missense_Mutation_p.P1074L	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 7 (TRPM7), mRNA.	1074					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TTGAAGAAATGGAGTCAACCA	0.313000														10			24		0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70733538	70733538	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:70733538G>A	uc003pfc.1	+	11	1163	c.1046G>A	c.(1045-1047)gGa>gAa	p.G349E	COL19A1_uc010kam.2_Missense_Mutation_p.G245E	NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	349	Triple-helical region 1 (COL1).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	p.K348N(1)|p.G349R(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						GGAGAAAAAGGAGATCCAGCT	0.328000														11			5		0	0	1	0	0
CTR9	9646	broad.mit.edu	37	11	10785918	10785918	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:10785918C>A	uc001mja.3	+	10	1497	c.1348C>A	c.(1348-1350)Cct>Act	p.P450T		NM_014633	NP_055448	Q6PD62	CTR9_HUMAN	Homo sapiens Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (CTR9), mRNA.	450					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GGCCGATGTTCCTCCAGAGAT	0.433000														49			40		8.20599e-20	8.36399e-20	1	1	0
CWH43	80157	broad.mit.edu	37	4	49032923	49032923	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:49032923A>T	uc003gyv.3	+	10	1636	c.1454A>T	c.(1453-1455)gAa>gTa	p.E485V	CWH43_uc011bzl.2_Missense_Mutation_p.E458V	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	485					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						TGGCTAGGGGAAAAGTTGGGT	0.418000														75			21		0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154395794	154395794	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:154395794C>T	uc010jih.1	+	0	2535	c.2375C>T	c.(2374-2376)cCt>cTt	p.P792L		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	792	Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GAGAATCCACCTCCTAAACTC	0.438000														13			11		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57335922	57335922	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:57335922G>A	uc002qnu.2	-	0	453	c.102C>T	c.(100-102)atC>atT	p.I34I	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Silent_p.I34I|PEG3_uc002qnv.2_Silent_p.I34I|PEG3_uc002qnw.2_Intron|PEG3_uc002qnx.2_Intron|PEG3_uc010etr.2_Silent_p.I34I	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	34					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)		CTTCTCCTATGATGACATCCG	0.483000														18			10		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179408788	179408788	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:179408788G>A	uc021vsy.1	-	294	88604	c.88379C>T	c.(88378-88380)gCt>gTt	p.A29460V	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.A23155V|TTN_uc021vta.1_Missense_Mutation_p.A23088V|TTN_uc021vtb.1_Missense_Mutation_p.A22963V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	30387	Fibronectin type-III 114.						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)			GGAGGCCCCAGCCCTGATGGT	0.458000														63			13		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10433037	10433037	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:10433037C>T	uc010coi.3	-	23	3089	c.2961G>A	c.(2959-2961)gaG>gaA	p.E987E	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.E987E|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.	987					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GACCTGCCATCTCTTCTGTGA	0.493000														90			35		0	0	1	0	0
ABCC1	4363	broad.mit.edu	37	16	16215966	16215966	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:16215966C>T	uc010bvi.3	+	23	3700	c.3525C>T	c.(3523-3525)atC>atT	p.I1175I	ABCC1_uc010bvj.3_Silent_p.I1116I|ABCC1_uc010bvk.3_Silent_p.I1119I|ABCC1_uc010bvl.3_Silent_p.I1175I|ABCC1_uc010bvm.3_Silent_p.I1060I|ABCC1_uc002del.4_Silent_p.I1069I|ABCC1_uc021tds.1_Non-coding_Transcript|ABCC1_uc021tdt.1_Silent_p.I141I	NM_004996	NP_004987	P33527	MRP1_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA.	1175	ABC transmembrane type-1 2.				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)	AGCGCTTCATCCACCAGAGTG	0.617000														34			7		0	0	1	0	0
HEXA	3073	broad.mit.edu	37	15	72638969	72638969	+	Missense_Mutation	SNP	G	A	A	rs151251788	byFrequency	TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:72638969G>A	uc002aun.4	-	10	1436	c.1229C>T	c.(1228-1230)gCc>gTc	p.A410V	BC034424_uc002aug.3_Non-coding_Transcript|CELF6_uc002auk.3_Intron|HEXA_uc010ukn.2_Missense_Mutation_p.A421V|HEXA_uc010bix.3_Missense_Mutation_p.A410V|HEXA_uc010biy.2_Missense_Mutation_p.A273V|HEXA_uc010uko.1_Missense_Mutation_p.A236V	NM_000520	NP_000511	P06865	HEXA_HUMAN	Homo sapiens hexosaminidase A (alpha polypeptide) (HEXA), mRNA.	410					cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						CCGGAAGCCGGCCTTGGTGAC	0.498000														356			153		0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26707403	26707403	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:26707403T>A	uc002rhk.3	-	11	1271	c.1144A>T	c.(1144-1146)Aaa>Taa	p.K382*		NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	382					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)					TTGTCCCCTTTGCCCACCACG	0.597000														13			6		0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129381003	129381003	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:129381003G>A	uc021zfb.1	+	2	463	c.358G>A	c.(358-360)Gaa>Aaa	p.E120K	LAMA2_uc003qbn.3_Missense_Mutation_p.E120K|LAMA2_uc003qbo.3_Missense_Mutation_p.E120K	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	120	Laminin N-terminal.				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)		GAATGGAATCGAATACCATTA	0.358000														9			10		0	0	1	0	0
ITIH3	3699	broad.mit.edu	37	3	52839834	52839834	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:52839834G>A	uc003dfv.2	+	15	1920	c.1884G>A	c.(1882-1884)gtG>gtA	p.V628V	ITIH3_uc011bek.1_Intron	NM_002217	NP_002208	Q06033	ITIH3_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 3 (ITIH3), mRNA.	628					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.G628C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CCACACCGGTGAGCCCCGCCA	0.642000														66			25		0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530082	140530082	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:140530082G>T	uc003lir.3	+	0	244	c.244G>T	c.(244-246)Gat>Tat	p.D82Y		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	82	Cadherin 1.				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)			ACAGACCCATGATTTACTGCT	0.527000														75			19		1.56452e-12	1.58602e-12	1	1	0
TRBV25-1	28562	broad.mit.edu	37	7	142378838	142378838	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:142378838A>C	uc003waa.1	+	1	106	c.106A>C	c.(106-108)Aag>Cag	p.K36Q	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|TRBV23-1_uc022ans.1_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		AGGCACAGGAAAGAAGATCAC	0.438000														94			63		0	0	1	0	0
FAM22F	54754	broad.mit.edu	37	9	97082649	97082649	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:97082649C>T	uc004aup.1	-	4	1230	c.1209G>A	c.(1207-1209)gaG>gaA	p.E403E		NM_017561	NP_060031	A1L443	FA22F_HUMAN	Homo sapiens family with sequence similarity 22, member F (FAM22F), mRNA.	403										central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(2)|prostate(2)|skin(2)|urinary_tract(1)	19		Acute lymphoblastic leukemia(62;0.136)				CCAGCAGCTCCTCCATGATGT	0.637000														79			15		0	0	1	0	0
ABCA1	19	broad.mit.edu	37	9	107568553	107568553	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:107568553G>A	uc004bcl.3	-	30	4837	c.4433C>T	c.(4432-4434)cCc>cTc	p.P1478L		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)	TGCCCCTGGGGGACACACAGG	0.572000														60			21		0	0	1	0	0
SNX19	399979	broad.mit.edu	37	11	130784612	130784612	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:130784612G>A	uc001qgk.4	-	0	1771	c.1223C>T	c.(1222-1224)tCc>tTc	p.S408F	SNX19_uc010sce.2_Intron|SNX19_uc010scf.2_5'UTR|SNX19_uc010scg.2_Intron|SNX19_uc001qgl.3_Missense_Mutation_p.S408F|SNX19_uc009zcx.1_Intron	NM_014758	NP_055573	Q92543	SNX19_HUMAN	Homo sapiens sorting nexin 19 (SNX19), mRNA.	408					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		CAGAGCCTGGGAACTCTCTAG	0.562000														7			6		0	0	1	0	0
ATG2A	23130	broad.mit.edu	37	11	64677198	64677198	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:64677198G>A	uc001obx.3	-	13	2177	c.2062C>T	c.(2062-2064)Ccc>Tcc	p.P688S		NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	688							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GGGACTGGGGGACCAGGCCCA	0.667000														52			12		0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189945763	189945763	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:189945763G>A	uc002uqk.3	-	12	1134	c.859C>T	c.(859-861)Cgt>Tgt	p.R287C	COL5A2_uc010frx.3_Missense_Mutation_p.R40C	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	287					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GGAAATCCACGAGCTCCCTGG	0.408000														17			24		0	0	1	0	0
MYBPC2	4606	broad.mit.edu	37	19	50946841	50946841	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:50946841G>A	uc002psf.2	+	9	1044	c.993G>A	c.(991-993)aaG>aaA	p.K331K		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA.	331	Ig-like C2-type 2.				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)		TAGCTGTCAAGGATGAGAAGT	0.502000														8			7		0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86375655	86375655	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:86375655G>A	uc001dlj.3	-	25	2723	c.2648C>T	c.(2647-2649)cCg>cTg	p.P883L	COL24A1_uc001dli.3_Missense_Mutation_p.P19L|COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_Missense_Mutation_p.P183L|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	883	Collagen-like 6.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTCTCCCTGCGGACCTAGTGG	0.403000														126			55		0	0	1	0	0
MAGEL2	54551	broad.mit.edu	37	15	23890790	23890790	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:23890790C>T	uc001ywj.4	-	0	2204	c.2100G>A	c.(2098-2100)ccG>ccA	p.P700P		NM_019066	NP_061939			Homo sapiens MAGE-like 2 (MAGEL2), mRNA.											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CCGCTGCTACCGGGGGTCCGG	0.632000														11			3		0	0	1	0	0
XKR6	286046	broad.mit.edu	37	8	10756377	10756377	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:10756377G>A	uc003wtk.1	-	2	1038	c.1011C>T	c.(1009-1011)tcC>tcT	p.S337S		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 6 (XKR6), transcript variant 2, mRNA.	337						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		GCTTGTGATAGGAGGCTAGCA	0.562000														75			19		0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10307866	10307866	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:10307866G>A	uc002gmm.2	-	21	2564	c.2469C>T	c.(2467-2469)gcC>gcT	p.A823A	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	823					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						CGTTCATGAAGGCACGGACAT	0.443000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					20			13		0	0	1	0	0
TSGA13	114960	broad.mit.edu	37	7	130368455	130368455	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:130368455C>T	uc003vqi.3	-	2	536	c.79G>A	c.(79-81)Gga>Aga	p.G27R	TSGA13_uc003vqj.3_Missense_Mutation_p.G27R	NM_052933	NP_443165	Q96PP4	TSG13_HUMAN	Homo sapiens testis specific, 13 (TSGA13), mRNA.	27										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					ACAACCATTCCTTTCTCACGT	0.388000														46			21		0	0	1	0	0
WBSCR28	135886	broad.mit.edu	37	7	73280029	73280029	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:73280029C>T	uc003tzk.2	+	2	660	c.624C>T	c.(622-624)acC>acT	p.T208T	WBSCR28_uc003tzl.2_Silent_p.T107T	NM_182504	NP_872310	Q6UE05	WBS28_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 28 (WBSCR28), mRNA.	208						integral to membrane				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				CCTGGACCACCTGCCTGGCCT	0.612000														238			103		0	0	1	0	0
DOCK4	9732	broad.mit.edu	37	7	111540581	111540581	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:111540581G>A	uc003vfy.3	-	14	1598	c.1329C>T	c.(1327-1329)tcC>tcT	p.S443S	DOCK4_uc003vfx.3_Silent_p.S443S|DOCK4_uc003vga.1_Silent_p.S48S	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	443	DHR-1.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CAGAGCCGAAGGAGATAAAAT	0.463000														10			6		0	0	1	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58551877	58551877	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:58551877G>A	uc002qrc.1	+	3	677	c.430G>A	c.(430-432)Ggg>Agg	p.G144R		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA.	144					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D143N(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGAGGAAGATGGGAAGAGTCC	0.627000														65			33		0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8420788	8420788	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:8420788G>A	uc001ape.3	-	18	3589	c.2779C>T	c.(2779-2781)Cac>Tac	p.H927Y	RERE_uc001apf.3_Missense_Mutation_p.H927Y|RERE_uc010nzx.1_Missense_Mutation_p.H659Y|RERE_uc001apd.3_Missense_Mutation_p.H373Y	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	927	Pro-rich.				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)		GGCTTGATGTGGGGCATGGCC	0.692000														31			12		0	0	1	0	0
MANSC1	54682	broad.mit.edu	37	12	12483048	12483048	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:12483048G>A	uc001rai.1	-	3	1467	c.1209C>T	c.(1207-1209)ctC>ctT	p.L403L	MANSC1_uc010shm.1_Silent_p.L337L|MANSC1_uc001raj.1_Silent_p.L369L	NM_018050	NP_060520	Q9H8J5	MANS1_HUMAN	Homo sapiens MANSC domain containing 1 (MANSC1), mRNA.	403						integral to membrane				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		TTCTACCCAGGAGGACGAGGC	0.483000														21			8		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113170290	113170290	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:113170290G>A	uc010mtz.3	-	37	7927	c.7590C>T	c.(7588-7590)ctC>ctT	p.L2530L	SVEP1_uc010mty.3_Silent_p.L456L	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	2530	Sushi 19.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TGGGACCTTCGAGCCGAAAGC	0.493000														24			6		0	0	1	0	0
UBE2Q2	92912	broad.mit.edu	37	15	76170311	76170311	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:76170311C>T	uc002bbg.2	+	6	1069	c.683C>T	c.(682-684)tCa>tTa	p.S228L	UBE2Q2_uc002bbh.2_Missense_Mutation_p.S193L|UBE2Q2_uc010umn.1_Missense_Mutation_p.S212L|UBE2Q2_uc002bbi.2_Missense_Mutation_p.S109L	NM_173469	NP_775740	Q8WVN8	UB2Q2_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2Q family member 2 (UBE2Q2), transcript variant 1, mRNA.	228					protein K48-linked ubiquitination	cytoplasm	ATP binding|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	12						GGGATTTATTCAGTGGAACTC	0.338000														26			31		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135430106	135430106	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:135430106C>T	uc004ezu.1	+	5	4532	c.4241C>T	c.(4240-4242)tCa>tTa	p.S1414L	GPR112_uc010nsb.1_Missense_Mutation_p.S1209L|GPR112_uc010nsc.1_Missense_Mutation_p.S1181L	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1414					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)					CAGGATACTTCATTTGTAGAT	0.428000														42			34		0	0	1	0	0
DOCK4	9732	broad.mit.edu	37	7	111368641	111368641	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:111368641C>T	uc003vfy.3	-	53	5994	c.5725G>A	c.(5725-5727)Ggc>Agc	p.G1909S	DOCK4_uc011kml.2_Missense_Mutation_p.G745S|DOCK4_uc011kmm.2_Missense_Mutation_p.G733S|DOCK4_uc003vfw.3_Missense_Mutation_p.G1276S|DOCK4_uc003vfx.3_Missense_Mutation_p.G1864S|DOCK4_uc003vfv.3_Missense_Mutation_p.G177S	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	1864	Pro-rich.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TTTTCAAAGCCTGAGGTTTCC	0.622000														92			16		0	0	1	0	0
EPS8L3	79574	broad.mit.edu	37	1	110302413	110302413	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:110302413C>T	uc001dyr.2	-	3	367	c.142G>A	c.(142-144)Gag>Aag	p.E48K	EPS8L3_uc001dys.2_Missense_Mutation_p.E48K|EPS8L3_uc001dyq.2_Missense_Mutation_p.E48K|EPS8L3_uc009wfm.2_Missense_Mutation_p.E14K|EPS8L3_uc009wfn.2_Missense_Mutation_p.E14K|EPS8L3_uc009wfo.2_Intron	NM_133181	NP_573444	Q8TE67	ES8L3_HUMAN	Homo sapiens EPS8-like 3 (EPS8L3), transcript variant 2, mRNA.	48						cytoplasm	protein binding	p.E48*(2)		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)		AAGGCATCCTCGGGCCCCTGG	0.612000														39			5		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196825609	196825610	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:196825609_196825610GT>AA	uc002utj.4	-	17	2366_2367	c.2265_2266AC>TT	c.(2263-2268)caacgt>caTTgt	p.755_756QR>HC		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	755	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(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						ATTTTTTTACGTTGAGGATATA	0.366000														14			37		0	0	1	0	0
RPTOR	57521	broad.mit.edu	37	17	78936356	78936357	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:78936356_78936357CC>TT	uc002jyt.1	+	31	4593_4594	c.3788_3789CC>TT	c.(3787-3789)ccc>cTT	p.P1263L	RPTOR_uc010wug.1_Missense_Mutation_p.P1105L|RPTOR_uc002jyu.1_Missense_Mutation_p.P156L	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	Homo sapiens regulatory associated protein of MTOR, complex 1 (RPTOR), transcript variant 1, mRNA.	1263					TOR signaling cascade|cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|positive regulation of protein serine/threonine kinase activity	TORC1 complex|cytosol|lysosome	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						GACATCCACCCCCAGGCGGACC	0.634000														62			32		0	0	1	0	0
PCK1	5105	broad.mit.edu	37	20	56140668	56140668	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:56140668C>T	uc002xyn.4	+	9	1840	c.1677C>T	c.(1675-1677)ccC>ccT	p.P559P	PCK1_uc010zzm.2_Silent_p.P242P	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	559					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			GCTACATCCCCAAGGAGGATG	0.547000														10			20		0	0	1	0	0
SOGA2	23255	broad.mit.edu	37	18	8784255	8784255	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr18:8784255C>T	uc002knr.2	+	5	1287	c.1145C>T	c.(1144-1146)cCc>cTc	p.P382L	SOGA2_uc002knq.2_Missense_Mutation_p.P382L|SOGA2_uc010dkw.1_Missense_Mutation_p.P220L	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	Homo sapiens coiled-coil domain containing 165 (CCDC165), mRNA.	733																	GCCCCCAGTCCCCGGGACAGC	0.682000														21			8		0	0	1	0	0
OR10J5	127385	broad.mit.edu	37	1	159505164	159505164	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:159505164G>A	uc010piw.2	-	0	634	c.634C>T	c.(634-636)Ctg>Ttg	p.L212L		NM_001004469	NP_001004469	Q8NHC4	O10J5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 5 (OR10J5), mRNA.	212					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)					ATAAATATCAGGCCTATGGGC	0.418000														55			12		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41019020	41019020	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:41019020C>T	uc003jmj.4	-	24	3032	c.2542G>A	c.(2542-2544)Gaa>Aaa	p.E848K	HEATR7B2_uc003jmi.4_Missense_Mutation_p.E403K	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	848							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						GTCTGGCCTTCACTTTTCAGA	0.493000														11			16		0	0	1	0	0
PDE5A	8654	broad.mit.edu	37	4	120528233	120528233	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:120528233G>A	uc003idh.3	-	1	527	c.372C>T	c.(370-372)ttC>ttT	p.F124F	PDE5A_uc003idf.3_Silent_p.F82F|PDE5A_uc003idg.3_Silent_p.F72F	NM_001083	NP_246273	O76074	PDE5A_HUMAN	Homo sapiens phosphodiesterase 5A, cGMP-specific (PDE5A), transcript variant 1, mRNA.	124					platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	AGTCAGAGAGGAAGCTCACAG	0.488000														20			22		0	0	1	0	0
KRT76	51350	broad.mit.edu	37	12	53165724	53165724	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:53165724C>T	uc001sax.3	-	5	1248	c.1194G>A	c.(1192-1194)aaG>aaA	p.K398K		NM_015848	NP_056932	Q01546	K22O_HUMAN	Homo sapiens keratin 76 (KRT76), mRNA.	398	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGATCTCACTCTTGGTGTTCC	0.522000														66			21		0	0	1	0	0
ZNF248	57209	broad.mit.edu	37	10	38121310	38121310	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:38121310G>A	uc001izd.1	-	5	1472	c.973C>T	c.(973-975)Cgt>Tgt	p.R325C	ZNF248_uc009xmc.2_Intron|ZNF248_uc001izb.3_Intron|ZNF248_uc001izc.3_Intron|ZNF248_uc010qeu.1_Missense_Mutation_p.R325C	NM_021045	NP_066383	Q8NDW4	ZN248_HUMAN	Homo sapiens zinc finger protein 248 (ZNF248), mRNA.	325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						TTATATTCACGGAGAATCTTT	0.358000														73			13		0	0	1	0	0
RNF165	494470	broad.mit.edu	37	18	44013205	44013205	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr18:44013205C>T	uc002lcb.1	+	1	165	c.114C>T	c.(112-114)ttC>ttT	p.F38F	RNF165_uc002lby.1_5'UTR|RNF165_uc010dnn.1_Intron	NM_152470	NP_689683	Q6ZSG1	RN165_HUMAN	Homo sapiens ring finger protein 165 (RNF165), mRNA.	38							zinc ion binding			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		GCCGCCACTTCCACCTGGGCC	0.692000														12			6		0	0	1	0	0
OR6N2	81442	broad.mit.edu	37	1	158747291	158747291	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:158747291G>C	uc010pir.2	-	0	135	c.135C>G	c.(133-135)atC>atG	p.I45M		NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily N, member 2 (OR6N2), mRNA.	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					TGACTGAGAAGATGAGCATGT	0.488000														77			49		0	0	1	0	0
BRDT	676	broad.mit.edu	37	1	92445161	92445161	+	Silent	SNP	T	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:92445161T>A	uc001dol.4	+	8	1552	c.1134T>A	c.(1132-1134)atT>atA	p.I378I	BRDT_uc010osz.2_Silent_p.I382I|BRDT_uc001dok.4_Silent_p.I378I|BRDT_uc009wdf.3_Silent_p.I305I|BRDT_uc010otb.2_Silent_p.I332I|BRDT_uc010ota.2_Silent_p.I332I|BRDT_uc001dom.4_Silent_p.I378I	NM_001242805	NP_001229734	Q58F21	BRDT_HUMAN	Homo sapiens bromodomain, testis-specific (BRDT), transcript variant 3, mRNA.	378					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	p.P377Q(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		AGATCCCGATTGAACCTGTTG	0.353000														39			15		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166908299	166908299	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:166908299C>T	uc002udo.4	-	7	1121	c.894G>A	c.(892-894)gtG>gtA	p.V298V	SCN1A_uc010fpk.3_Silent_p.V298V|SCN1A_uc021vsb.1_Silent_p.V298V	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	298						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CATTATAATTCACAGTTATAT	0.348000														11			6		0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82409249	82409249	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:82409249G>A	uc001dit.4	+	5	1175	c.994G>A	c.(994-996)Gaa>Aaa	p.E332K	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Missense_Mutation_p.E332K|LPHN2_uc001div.3_Missense_Mutation_p.E332K|LPHN2_uc009wcd.3_Missense_Mutation_p.E332K	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	332	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			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)		TCAAGACAATGAAAGTGAAAC	0.398000														75			19		0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140431764	140431764	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:140431764G>A	uc003lik.1	+	0	786	c.709G>A	c.(709-711)Gac>Aac	p.D237N		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	237	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D237N(2)|p.N236N(1)		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)			GGATGTCAACGACCACGTGCC	0.597000														18			7		0	0	1	0	0
CNBD1	168975	broad.mit.edu	37	8	88365992	88365992	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:88365992C>T	uc003ydy.2	+	9	1329	c.1281C>T	c.(1279-1281)atC>atT	p.I427I		NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN	Homo sapiens cyclic nucleotide binding domain containing 1 (CNBD1), mRNA.	427										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						AGATGGCAATCATTGAAGATA	0.318000														19			9		0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129148218	129148218	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:129148218C>T	uc022cdu.1	+	2	1514	c.1470C>T	c.(1468-1470)ctC>ctT	p.L490L	BCORL1_uc010nrd.1_Silent_p.L392L	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.	490	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						ACAGGTGTCTCCCAGGCGTGC	0.602000														88			56		0	0	1	0	0
SUPT6H	6830	broad.mit.edu	37	17	27028622	27028623	+	Missense_Mutation	DNP	CC	TA	TA			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:27028622_27028623CC>TA	uc010crt.3	+	37	5352_5353	c.5160_5161CC>TA	c.(5158-5163)ctcctg>ctTAtg	p.L1721M	SUPT6H_uc002hby.3_Missense_Mutation_p.L1721M	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA.	1721					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CCACCCCACTCCTGGACGAGAT	0.653000														38			10		0	0	1	0	0
GRAMD1C	54762	broad.mit.edu	37	3	113655185	113655185	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:113655185G>A	uc003eaq.4	+	13	1605	c.1529G>A	c.(1528-1530)cGa>cAa	p.R510Q	GRAMD1C_uc011bil.2_Non-coding_Transcript|GRAMD1C_uc003ear.3_Missense_Mutation_p.R343Q|GRAMD1C_uc003eas.3_Missense_Mutation_p.R305Q|GRAMD1C_uc003eat.3_Missense_Mutation_p.R169Q	NM_017577	NP_001165576	Q8IYS0	GRM1C_HUMAN	Homo sapiens GRAM domain containing 1C (GRAMD1C), transcript variant 1, mRNA.	510						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						ACTGGCCTACGAAGGAGAAGG	0.393000														52			16		0	0	1	0	0
TLE2	7089	broad.mit.edu	37	19	3002450	3002450	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:3002450C>A	uc010dth.3	-	17	2214	c.1951G>T	c.(1951-1953)Gag>Tag	p.E651*	TLE2_uc010xhb.2_Nonsense_Mutation_p.E317*|TLE2_uc002lww.3_Nonsense_Mutation_p.E650*|TLE2_uc010xhc.2_Nonsense_Mutation_p.E528*|TLE2_uc010dti.3_Nonsense_Mutation_p.E664*	NM_003260	NP_003251	Q04725	TLE2_HUMAN	Homo sapiens transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) (TLE2), transcript variant 1, mRNA.	650					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)		TTGCTACTCTCCATTCCGACC	0.592000														7			4		1	1	1	1	0
DSPP	1834	broad.mit.edu	37	4	88534073	88534073	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:88534073T>G	uc003hqu.3	+	3	855	c.735T>G	c.(733-735)agT>agG	p.S245R		NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN	Homo sapiens dentin sialophosphoprotein (DSPP), mRNA.	245					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)		CCGATGGGAGTCCTAGTGGGA	0.468000														15			6		0	0	1	0	0
MST1R	4486	broad.mit.edu	37	3	49939861	49939861	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:49939861G>A	uc003cxy.4	-	0	1446	c.1182C>T	c.(1180-1182)ctC>ctT	p.L394L	MST1R_uc011bdc.2_Silent_p.L394L|MST1R_uc011bdd.2_Silent_p.L394L|MST1R_uc011bde.1_Silent_p.L394L|MST1R_uc011bdf.1_Silent_p.L394L|MST1R_uc011bdg.2_Silent_p.L394L	NM_002447	NP_002438	Q04912	RON_HUMAN	Homo sapiens macrophage stimulating 1 receptor (c-met-related tyrosine kinase) (MST1R), transcript variant 1, mRNA.	394	Sema.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GGCCTCGCCGGAGGCCTGGAT	0.577000														85			24		0	0	1	0	0
SPDYE7P	441251	broad.mit.edu	37	7	72338179	72338179	+	RNA	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:72338179G>A	uc010lal.1	-	0		c.1477C>T								Homo sapiens speedy homolog E7 (Xenopus laevis), pseudogene (SPDYE7P), non-coding RNA.																		CTGTGGGTTTGGAAGCTGCGC	0.498000														75			39		0	0	1	0	0
PDE6C	5146	broad.mit.edu	37	10	95372905	95372905	+	Silent	SNP	G	A	A	rs143390578		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:95372905G>A	uc001kiu.4	+	0	561	c.423G>A	c.(421-423)ggG>ggA	p.G141G		NM_006204	NP_006195	P51160	PDE6C_HUMAN	Homo sapiens phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C), mRNA.	141	GAF 1.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				TGGACATTGGGATAGTGGGTT	0.527000														39			13		0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88965751	88965751	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:88965751C>T	uc011khi.2	+	3	3993	c.3455C>T	c.(3454-3456)cCt>cTt	p.P1152L		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	Homo sapiens zinc finger protein 804B (ZNF804B), mRNA.	1152						intracellular	zinc ion binding	p.P1152S(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ACATTTTCTCCTGACGAAATA	0.418000										HNSCC(36;0.09)				46			31		0	0	1	0	0
NOMO1	23420	broad.mit.edu	37	16	14951475	14951475	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:14951475C>T	uc002dcv.3	+	10	1249	c.1183C>T	c.(1183-1185)Ccg>Tcg	p.P395S		NM_014287	NP_055102	Q15155	NOMO1_HUMAN	Homo sapiens NODAL modulator 1 (NOMO1), mRNA.	395						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						CAAAATTGCACCGAACACACC	0.478000														43			58		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13830279	13830279	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:13830279G>A	uc003jfd.2	-	36	6147	c.6105C>T	c.(6103-6105)aaC>aaT	p.N2035N		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2035	AAA 1 (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)					GATCAATACGGTTAAATTCAT	0.358000									Kartagener syndrome					32			12		0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20803457	20803457	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:20803457G>A	uc001reh.2	+	13	2888	c.2848G>A	c.(2848-2850)Gat>Aat	p.D950N	PDE3A_uc021qwa.1_Missense_Mutation_p.D628N	NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	950	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)	AAAGTTGGCTGATATCAATGG	0.338000														28			23		0	0	1	0	0
ZNF449	203523	broad.mit.edu	37	X	134494444	134494444	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:134494444C>T	uc004eys.3	+	4	1165	c.1000C>T	c.(1000-1002)Cgg>Tgg	p.R334W	ZNF449_uc004eyt.3_Missense_Mutation_p.R214W|ZNF449_uc004eyu.3_Missense_Mutation_p.R140W	NM_152695	NP_689908	Q6P9G9	ZN449_HUMAN	Homo sapiens zinc finger protein 449 (ZNF449), mRNA.	334					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					ATGTTTTGCTCGGAAGTCACA	0.448000														33			27		0	0	1	0	0
PHGDH	26227	broad.mit.edu	37	1	120266046	120266046	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:120266046T>C	uc001ehz.3	+	2	565	c.338T>C	c.(337-339)aTg>aCg	p.M113T	PHGDH_uc009whl.3_5'UTR|PHGDH_uc009whm.3_5'UTR|PHGDH_uc001eib.3_Missense_Mutation_p.M79T	NM_006623	NP_006614	O43175	SERA_HUMAN	Homo sapiens phosphoglycerate dehydrogenase (PHGDH), mRNA.	113					L-serine biosynthetic process|brain development		NAD binding|electron carrier activity|phosphoglycerate dehydrogenase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	ACTTGTGGAATGATCATGTGC	0.493000														40			13		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22476278	22476278	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:22476278C>T	uc001wcu.4	+	1	312	c.214C>T	c.(214-216)Cgt>Tgt	p.R72C	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_Missense_Mutation_p.R72C|TCRA_uc010tmm.2_Intron|TCRA_uc001wct.4_3'UTR					RecName: Full=T-cell receptor alpha chain V region HPB-MLT; Flags: Precursor; Fragment;																		TTTCCTTATTCGTCGGAACTC	0.423000														5			6		0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43547193	43547193	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr21:43547193C>T	uc002zag.1	+	17	3755	c.3755C>T	c.(3754-3756)cCc>cTc	p.P1252L	UMODL1_uc002zad.1_Missense_Mutation_p.P1052L|UMODL1_uc002zae.1_Missense_Mutation_p.P1180L|UMODL1_uc002zaf.1_Missense_Mutation_p.P1124L|UMODL1_uc002zal.1_Missense_Mutation_p.P74L|UMODL1_uc010gpa.1_5'Flank	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	1124						cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GGAGACTCTCCCATACCTCAG	0.522000														47			9		0	0	1	0	0
VN1R10P	387316	broad.mit.edu	37	6	27293314	27293314	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:27293314C>T	uc010jqt.3	+	0	775	c.253C>T	c.(253-255)Cct>Tct	p.P85S		NM_032030	NP_114419			SubName: Full=FKSG83 protein; SubName: Full=FKSG83, isoform CRA_a; SubName: Full=FKSG83, isoform CRA_b;																		ACAATCTTTTCCTGAAACAGA	0.393000														176			26		0	0	1	0	0
CATSPERG	57828	broad.mit.edu	37	19	38851140	38851140	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:38851140C>T	uc002oih.4	+	14	1707	c.1620C>T	c.(1618-1620)ctC>ctT	p.L540L	CATSPERG_uc002oig.4_Silent_p.L500L|CATSPERG_uc002oif.4_Silent_p.L180L|CATSPERG_uc010efw.3_Non-coding_Transcript	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN	Homo sapiens cation channel, sperm-associated, gamma (CATSPERG), mRNA.	540					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						TCTGGTACCTCCTGGAGGGCA	0.587000														30			24		0	0	1	0	0
FAM113B	91523	broad.mit.edu	37	12	47629785	47629785	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:47629785C>T	uc001rpq.3	+	1	1464	c.939C>T	c.(937-939)ctC>ctT	p.L313L	FAM113B_uc001rpn.3_Silent_p.L313L|FAM113B_uc021qxi.1_Silent_p.L313L	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA.	313	Pro-rich.						hydrolase activity			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10)	35	Renal(347;0.138)|Lung SC(27;0.192)					tgccgctgctcccgctcctgt	0.627000														65			25		0	0	1	0	0
TAS2R39	259285	broad.mit.edu	37	7	142880922	142880922	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:142880922G>A	uc011ksw.2	+	0	411	c.411G>A	c.(409-411)gtG>gtA	p.V137V		NM_176881	NP_795362	P59534	T2R39_HUMAN	Homo sapiens taste receptor, type 2, member 39 (TAS2R39), mRNA.	137					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					TCTACTTTGTGAAGATTGCCA	0.393000														58			38		0	0	1	0	0
OMP	4975	broad.mit.edu	37	11	76814244	76814244	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:76814244C>T	uc010rsk.2	+	0	359	c.359C>T	c.(358-360)gCc>gTc	p.A120V	CAPN5_uc001oxx.3_Intron|CAPN5_uc009yup.3_Intron|CAPN5_uc009yuq.3_Intron|CAPN5_uc001oxy.3_Intron	NM_006189	NP_006180	P47874	OMP_HUMAN	Homo sapiens olfactory marker protein (OMP), mRNA.	120					sensory perception of smell|synaptic transmission					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						TGGAATGAGGCCGACGCCCTG	0.617000														29			8		0	0	1	0	0
ABCA5	23461	broad.mit.edu	37	17	67298951	67298951	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:67298951G>A	uc002jif.2	-	6	2245	c.1027C>T	c.(1027-1029)Ctt>Ttt	p.L343F	ABCA5_uc002jie.2_Non-coding_Transcript|ABCA5_uc002jig.2_Missense_Mutation_p.L343F|ABCA5_uc002jih.2_Missense_Mutation_p.L343F|ABCA5_uc010dfe.2_Missense_Mutation_p.L343F	NM_018672	NP_758424	Q8WWZ7	ABCA5_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA.	343					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					ATTATCATAAGGCCAATAAAT	0.338000														18			21		0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6204741	6204741	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:6204741G>A	uc001qnn.1	-	5	792	c.542C>T	c.(541-543)aCc>aTc	p.T181I	VWF_uc010set.1_Missense_Mutation_p.T181I|VWF_uc001qno.1_Missense_Mutation_p.T218I	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	181	VWFD 1.				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)	AGGGTCCGAGGTCAAGGTCCC	0.507000														53			12		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90083966	90083966	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:90083966G>A	uc003kju.3	+	67	13828	c.13732G>A	c.(13732-13734)Ggg>Agg	p.G4578R	GPR98_uc003kjt.3_Missense_Mutation_p.G2284R|GPR98_uc003kjw.3_Missense_Mutation_p.G239R	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	4578	Calx-beta 31.				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)		CCCAGTGAGCGGGTTGTTCTA	0.428000														24			18		0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55138563	55138563	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:55138563C>T	uc003han.4	+	8	1571	c.1240C>T	c.(1240-1242)Cct>Tct	p.P414S	PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.P308S|PDGFRA_uc003ham.2_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	414	Ig-like C2-type 5.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TCTTGCAGTTCCTTCATCCAT	0.488000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				38			10		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137988616	137988616	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:137988616G>A	uc002tva.1	+	6	1633	c.1633G>A	c.(1633-1635)Gaa>Aaa	p.E545K	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.E435K	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.									p.R544*(1)		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)		GATTGTAGGAGAAGATGTATC	0.458000														20			10		0	0	1	0	0
HMMR	3161	broad.mit.edu	37	5	162900236	162900236	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:162900236C>T	uc003lzh.3	+	7	884	c.702C>T	c.(700-702)ctC>ctT	p.L234L	HMMR_uc003lzf.3_Silent_p.L233L|HMMR_uc003lzg.3_Silent_p.L218L|HMMR_uc011dem.2_Silent_p.L147L	NM_001142556	NP_001136028	O75330	HMMR_HUMAN	Homo sapiens hyaluronan-mediated motility receptor (RHAMM) (HMMR), transcript variant 1, mRNA.	233						cell surface|cytoplasm	hyaluronic acid binding			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)		CAGAAAAACTCTTGGAATACA	0.249000														5			8		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100679883	100679883	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:100679883C>T	uc003uxp.1	+	2	5239	c.5186C>T	c.(5185-5187)tCa>tTa	p.S1729L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1729	59 X approximate tandem repeats.|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)					GAAGCCCGTTCATCTCCTACA	0.507000														248			137		0	0	1	0	0
ANAPC1	64682	broad.mit.edu	37	2	112536282	112536282	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:112536282C>T	uc002thi.3	-	44	5602	c.5355G>A	c.(5353-5355)gaG>gaA	p.E1785E		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	Homo sapiens anaphase promoting complex subunit 1 (ANAPC1), mRNA.	1785					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						CAGGCAACATCTCTGGGGTCT	0.393000														42			6		0	0	1	0	0
CACNA1F	778	broad.mit.edu	37	X	49074219	49074219	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:49074219T>G	uc004dnb.3	-	25	3179	c.3117A>C	c.(3115-3117)gaA>gaC	p.E1039D	CACNA1F_uc010nip.3_Missense_Mutation_p.E1028D	NM_005183	NP_005174	O60840	CAC1F_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), mRNA.	1039					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)	CTCACTTGCATTCTTGAGGGG	0.547000														10			37		0	0	1	0	0
CDH7	1005	broad.mit.edu	37	18	63527019	63527019	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr18:63527019G>A	uc002lkb.3	+	9	1996	c.1570G>A	c.(1570-1572)Gat>Aat	p.D524N	CDH7_uc002ljz.3_Missense_Mutation_p.D524N|CDH7_uc002lka.3_Missense_Mutation_p.D524N	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.	524	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T523T(1)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CTTAACAACGGATGCAACAAA	0.363000														7			16		0	0	1	0	0
MAPT	4137	broad.mit.edu	37	17	44060805	44060805	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:44060805C>T	uc002ijr.4	+	5	957	c.635C>T	c.(634-636)cCg>cTg	p.P212L	MAPT_uc010dau.3_Missense_Mutation_p.P212L|MAPT_uc002ijs.4_Intron|MAPT_uc002ijx.4_Intron|MAPT_uc021tyv.1_Intron|MAPT_uc002ijt.4_Intron|MAPT_uc021tyw.1_Intron|MAPT_uc002iju.4_Intron|MAPT_uc021tyx.1_Missense_Mutation_p.P60L	NM_016835	NP_058519	P10636	TAU_HUMAN	Homo sapiens microtubule-associated protein tau (MAPT), transcript variant 1, mRNA.	212					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	SH3 domain binding|apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				AAAGAGAGGCCGGGGAGCAAG	0.692000														32			11		0	0	1	0	0
NFE2	4778	broad.mit.edu	37	12	54686197	54686197	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:54686197G>A	uc009znk.3	-	1	1593	c.1083C>T	c.(1081-1083)ttC>ttT	p.F361F	NFE2_uc001sfq.3_Silent_p.F361F|NFE2_uc001sfr.4_Silent_p.F361F|NFE2_uc009znl.3_Silent_p.F361F	NM_006163	NP_006154	Q16621	NFE2_HUMAN	Homo sapiens nuclear factor (erythroid-derived 2), 45kDa (NFE2), transcript variant 1, mRNA.	361					blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	PML body|actin cytoskeleton|cytoplasm	WW domain binding|protein N-terminus binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						GGGGCACAAGGAAGATGGTCC	0.557000														19			46		0	0	1	0	0
WNT16	51384	broad.mit.edu	37	7	120979052	120979052	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:120979052G>A	uc003vjw.3	+	3	1008	c.751G>A	c.(751-753)Gat>Aat	p.D251N	WNT16_uc003vjv.3_Missense_Mutation_p.D241N|WNT16_uc010lkl.3_Missense_Mutation_p.D35N	NM_057168	NP_476509	Q9UBV4	WNT16_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 16 (WNT16), transcript variant 1, mRNA.	251					Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of JNK cascade|positive regulation of gene expression|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					TTTGTTGAAGGATAAATATGA	0.413000														26			6		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71797023	71797023	+	Missense_Mutation	SNP	G	A	A	rs151064013		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:71797023G>A	uc010fen.3	+	26	3079	c.2938G>A	c.(2938-2940)Gga>Aga	p.G980R	DYSF_uc010fei.3_Missense_Mutation_p.G979R|DYSF_uc010feh.3_Missense_Mutation_p.G948R|DYSF_uc002sig.4_Missense_Mutation_p.G948R|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.G993R|DYSF_uc010fee.3_Missense_Mutation_p.G962R|DYSF_uc010fef.3_Missense_Mutation_p.G979R|DYSF_uc002sie.3_Missense_Mutation_p.G962R|DYSF_uc010feo.3_Missense_Mutation_p.G994R|DYSF_uc010fej.3_Missense_Mutation_p.G949R|DYSF_uc010fel.3_Missense_Mutation_p.G949R|DYSF_uc010fem.3_Missense_Mutation_p.G963R|DYSF_uc002sif.3_Missense_Mutation_p.G963R|DYSF_uc010fek.3_Missense_Mutation_p.G980R	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	962						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CCGGCTTCCCGGAGGCCAGTG	0.582000														12			7		0	0	1	0	0
ZNF132	7691	broad.mit.edu	37	19	58945019	58945019	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:58945019G>A	uc002qst.4	-	2	2193	c.1792C>T	c.(1792-1794)Cct>Tct	p.P598S		NM_003433	NP_003424	P52740	ZN132_HUMAN	Homo sapiens zinc finger protein 132 (ZNF132), mRNA.	598						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)		CATTTATAAGGCTTTTCTCCA	0.398000														44			22		0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139391598	139391598	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:139391598G>A	uc004chz.3	-	33	6593	c.6593C>T	c.(6592-6594)tCg>tTg	p.S2198L		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	2198					Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.S2163_T2283del(2)|p.K2182fs*61(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTCCACGGGCGAGAGCATGCC	0.677000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)				79			17		0	0	1	0	0
LRRC37B	114659	broad.mit.edu	37	17	30349303	30349303	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:30349303T>C	uc002hgu.3	+	0	1149	c.1138T>C	c.(1138-1140)Tct>Cct	p.S380P	LRRC37B_uc010wbx.2_Missense_Mutation_p.S298P|LRRC37B_uc010csu.3_Missense_Mutation_p.S380P	NM_052888	NP_443120	Q96QE4	LR37B_HUMAN	Homo sapiens leucine rich repeat containing 37B (LRRC37B), mRNA.	380						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				GGCGGAACCTTCTTCTACAGC	0.537000														84			25		0	0	1	0	0
C17orf104	284071	broad.mit.edu	37	17	42744504	42744504	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:42744504G>A	uc002iha.3	+	4	1445	c.1225G>A	c.(1225-1227)Gaa>Aaa	p.E409K	C17orf104_uc002igy.1_Missense_Mutation_p.E243K|C17orf104_uc002igz.3_Missense_Mutation_p.E243K|C17orf104_uc010wja.1_Non-coding_Transcript	NM_001145080	NP_001138552	A2RUB1	CQ104_HUMAN	Homo sapiens chromosome 17 open reading frame 104 (C17orf104), mRNA.	409										autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						GTTTGCAAAGGAAGCAGTATT	0.413000														54			18		0	0	1	0	0
HS6ST2	90161	broad.mit.edu	37	X	132092468	132092468	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:132092468G>A	uc011mvd.1	-	1	579	c.163C>T	c.(163-165)Cct>Tct	p.P55S	HS6ST2_uc011mvb.1_5'Flank|HS6ST2_uc011mvc.1_5'Flank|HS6ST2_uc011mve.1_Missense_Mutation_p.P55S	NM_001077188	NP_001070656	Q96MM7	H6ST2_HUMAN	Homo sapiens heparan sulfate 6-O-sulfotransferase 2 (HS6ST2), transcript variant L, mRNA.	55						integral to membrane	sulfotransferase activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					ACACCCCTAGGAGGGCCCGCG	0.711000														3			13		0	0	1	0	0
CTSA	5476	broad.mit.edu	37	20	44523713	44523713	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:44523713C>T	uc002xqh.3	+	10	1457	c.1083C>T	c.(1081-1083)aaC>aaT	p.N361N	CTSA_uc002xqj.4_Silent_p.N343N|CTSA_uc010zxi.2_Silent_p.N344N|CTSA_uc002xqi.3_Non-coding_Transcript	NM_000308	NP_001121167	P10619	PPGB_HUMAN	Homo sapiens cathepsin A (CTSA), transcript variant 1, mRNA.	343					intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				ACCTCAACAACCCGTACGTGC	0.607000														25			19		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10951412	10951412	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr21:10951412G>A	uc002yip.1	-	9	668	c.300C>T	c.(298-300)ttC>ttT	p.F100F	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Silent_p.F82F|TPTE_uc002yir.1_Silent_p.F62F|TPTE_uc010gkv.1_5'UTR	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	100					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTAAGACCAGGAAAACTCCAA	0.333000														73			9		0	0	1	0	0
NUP214	8021	broad.mit.edu	37	9	134049632	134049632	+	Silent	SNP	C	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:134049632C>A	uc004cag.3	+	21	3195	c.3084C>A	c.(3082-3084)ctC>ctA	p.L1028L	NUP214_uc004cah.3_Silent_p.L1018L|NUP214_uc004cai.3_Silent_p.L458L|NUP214_uc004caf.1_Silent_p.L1017L|NUP214_uc010mzf.3_Silent_p.L326L	NM_005085	NP_005076	P35658	NU214_HUMAN	Homo sapiens nucleoporin 214kDa (NUP214), mRNA.	1028	11 X 5 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		AGCCCAGTCTCTTGCCCCATG	0.542000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""									60			17		3.41278e-10	3.45105e-10	1	1	0
PCDH11X	27328	broad.mit.edu	37	X	91642806	91642806	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:91642806C>T	uc004efk.2	+	4	4062	c.3217C>T	c.(3217-3219)Cat>Tat	p.H1073Y	PCDH11X_uc004efl.2_Missense_Mutation_p.H1063Y|PCDH11X_uc010nmv.2_Intron|PCDH11X_uc004efm.2_Missense_Mutation_p.H1073Y|PCDH11X_uc004efn.2_Missense_Mutation_p.H1063Y|PCDH11X_uc004efo.2_Missense_Mutation_p.H1036Y	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	1073					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ACTGGGAGACCATGATGCAGG	0.542000														16			21		0	0	1	0	0
OR1K1	392392	broad.mit.edu	37	9	125562836	125562836	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:125562836G>A	uc011lze.2	+	0	435	c.435G>A	c.(433-435)ctG>ctA	p.L145L		NM_080859	NP_543135	Q8NGR3	OR1K1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily K, member 1 (OR1K1), mRNA.	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						GCGCAGCCCTGGTGGGAATGG	0.617000														53			8		0	0	1	0	0
SNF8	11267	broad.mit.edu	37	17	47018295	47018295	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:47018295G>A	uc002ioj.3	-	2	293	c.235C>T	c.(235-237)Ccg>Tcg	p.P79S	SNF8_uc002iok.3_Missense_Mutation_p.P79S	NM_007241	NP_009172	Q96H20	SNF8_HUMAN	Homo sapiens SNF8, ESCRT-II complex subunit, homolog (S. cerevisiae) (SNF8), mRNA.	79					cellular membrane organization|endosome transport|protein transport|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytosol|late endosome membrane|transcription factor complex	transcription factor binding			breast(1)|endometrium(1)|lung(1)	3						CAGGCCAGCGGATCCACGCCA	0.512000														121			20		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10480590	10480590	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:10480590C>T	uc003wtc.3	-	1	351	c.122G>A	c.(121-123)cGa>cAa	p.R41Q		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	41					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TGGATCCCCTCGCTTGAGGAA	0.662000														50			10		0	0	1	0	0
FBXO22	26263	broad.mit.edu	37	15	76209645	76209645	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:76209645C>T	uc002bbk.3	+	4	643	c.538C>T	c.(538-540)Cct>Tct	p.P180S	FBXO22_uc002bbj.2_Missense_Mutation_p.P180S|FBXO22_uc002bbl.3_Missense_Mutation_p.P76S	NM_147188	NP_671717	Q8NEZ5	FBX22_HUMAN	Homo sapiens F-box protein 22 (FBXO22), transcript variant 1, mRNA.	180					ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						TTTATTATTCCCTCAAATTGA	0.333000														30			48		0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139412267	139412267	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:139412267G>A	uc004chz.3	-	7	1378	c.1378C>T	c.(1378-1380)Ccg>Tcg	p.P460S		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	460	EGF-like 12; calcium-binding (Potential).				Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TTCTGGCACGGGTTCGAGACG	0.657000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)				65			15		0	0	1	0	0
ZKSCAN3	80317	broad.mit.edu	37	6	28327654	28327654	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:28327654C>T	uc010jrc.3	+	2	624	c.291C>T	c.(289-291)atC>atT	p.I97I	ZKSCAN3_uc003nle.4_Silent_p.I97I|ZKSCAN3_uc003nlf.4_Intron	NM_001242894	NP_001229823	Q9BRR0	ZKSC3_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 3 (ZKSCAN3), transcript variant 1, mRNA.	97	SCAN box.				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						TCCTGACCATCCTGCCGGGGA	0.617000														64			10		0	0	1	0	0
C6orf118	168090	broad.mit.edu	37	6	165703553	165703553	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:165703553G>A	uc003qum.4	-	6	1160	c.1124C>T	c.(1123-1125)tCa>tTa	p.S375L	C6orf118_uc011egi.1_Non-coding_Transcript	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	Homo sapiens chromosome 6 open reading frame 118 (C6orf118), mRNA.	375										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TTTCTCAGATGATTCTGGAAA	0.279000														9			5		0	0	1	0	0
NACC1	112939	broad.mit.edu	37	19	13246057	13246057	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:13246057C>T	uc002mwm.3	+	1	204	c.36C>T	c.(34-36)ttC>ttT	p.F12F		NM_052876	NP_443108	Q96RE7	NACC1_HUMAN	Homo sapiens nucleus accumbens associated 1, BEN and BTB (POZ) domain containing (NACC1), mRNA.	12					negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						TCCCGAACTTCGGCAACAGCA	0.637000														27			13		0	0	1	0	0
HSFY1P1	27437	broad.mit.edu	37	22	17308477	17308477	+	RNA	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:17308477C>T	uc010gqr.1	+	0		c.114C>T								Homo sapiens heat shock transcription factor, Y-linked 1 pseudogene 1 (HSFY1P1), non-coding RNA.																		AGATGTTTCTCCTAAAGATGA	0.408000														4			9		0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4703923	4703923	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:4703923G>T	uc003bqc.3	+	13	1714	c.1364G>T	c.(1363-1365)aGg>aTg	p.R455M	ITPR1_uc021wsi.1_Missense_Mutation_p.R470M|ITPR1_uc021wsj.1_Missense_Mutation_p.R455M|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	470					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CAGAATGAAAGGAGGTGAGCA	0.567000														10			10		7.48243e-07	7.53503e-07	1	1	0
HGD	3081	broad.mit.edu	37	3	120394643	120394643	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:120394643C>T	uc003edw.3	-	1	543	c.83G>A	c.(82-84)gGa>gAa	p.G28E		NM_000187	NP_000178	Q93099	HGD_HUMAN	Homo sapiens homogentisate 1,2-dioxygenase (HGD), mRNA.	28					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		TCATACCTGTCCTTCTGGCAG	0.483000														47			15		0	0	1	0	0
HSD17B12	51144	broad.mit.edu	37	11	43861598	43861598	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:43861598A>G	uc001mxq.4	+	8	903	c.668A>G	c.(667-669)aAg>aGg	p.K223R		NM_016142	NP_057226	Q53GQ0	DHB12_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 12 (HSD17B12), mRNA.	223					long-chain fatty-acyl-CoA biosynthetic process|steroid biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	estradiol 17-beta-dehydrogenase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity			endometrium(2)|large_intestine(4)|lung(4)	10						TATAGGAGCAAGGGCGTCTTT	0.443000														33			20		0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69693229	69693229	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:69693229C>T	uc003hee.3	+	4	1295	c.1270C>T	c.(1270-1272)Ctg>Ttg	p.L424L	UGT2B10_uc011cam.2_Silent_p.L340L	NM_001075	NP_001066	P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	424					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						GAGTACAGACCTGCTGAATGC	0.393000														123			55		0	0	1	0	0
CLRN3	119467	broad.mit.edu	37	10	129691019	129691019	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:129691019G>A	uc001lka.1	-	0	193	c.30C>T	c.(28-30)ttC>ttT	p.F10F		NM_152311	NP_689524	Q8NCR9	CLRN3_HUMAN	Homo sapiens clarin 3 (CLRN3), mRNA.	10						integral to membrane				endometrium(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235)				AGCTTGATAAGAACATCAATG	0.368000														55			9		0	0	1	0	0
KIF5A	3798	broad.mit.edu	37	12	57961392	57961392	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:57961392G>A	uc001sor.1	+	7	913	c.705G>A	c.(703-705)ggG>ggA	p.G235G	KIF5A_uc010srr.1_Silent_p.G146G	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	Homo sapiens kinesin family member 5A (KIF5A), mRNA.	235	Kinesin-motor.|Microtubule-binding.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						ACCTGGCAGGGAGTGAGAAGG	0.532000														39			9		0	0	1	0	0
CCDC43	124808	broad.mit.edu	37	17	42759409	42759409	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:42759409G>A	uc002ihc.2	-	2	434	c.390C>T	c.(388-390)gcC>gcT	p.A130A	CCDC43_uc021tye.1_5'Flank|CCDC43_uc010czw.1_Silent_p.A130A	NM_144609	NP_653210	Q96MW1	CCD43_HUMAN	Homo sapiens coiled-coil domain containing 43 (CCDC43), transcript variant 1, mRNA.	130										lung(2)	2		Prostate(33;0.0322)				GGGCCAGGAGGGCAGCTTTTC	0.483000														109			18		0	0	1	0	0
MTL5	9633	broad.mit.edu	37	11	68475888	68475888	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:68475888T>A	uc001ooc.3	-	9	1555	c.1415A>T	c.(1414-1416)aAa>aTa	p.K472I		NM_004923	NP_004914	Q9Y4I5	MTL5_HUMAN	Homo sapiens metallothionein-like 5, testis-specific (tesmin) (MTL5), transcript variant 1, mRNA.	472					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			GCAGTGTTCTTTCTCGGCCTC	0.532000														35			15		0	0	1	0	0
SLC2A13	114134	broad.mit.edu	37	12	40258627	40258627	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:40258627G>A	uc010skm.2	-	5	1307	c.1256C>T	c.(1255-1257)tCc>tTc	p.S419F	C12orf40_uc009zjv.1_Intron|SLC2A13_uc001rme.1_Missense_Mutation_p.S66F	NM_052885	NP_443117	Q96QE2	MYCT_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 13 (SLC2A13), mRNA.	419						integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				GATGCGTGGGGAAACTTGGGC	0.398000										HNSCC(50;0.14)				41			61		0	0	1	0	0
SAMD4B	55095	broad.mit.edu	37	19	39868415	39868415	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:39868415C>T	uc002olb.3	+	9	2430	c.1395C>T	c.(1393-1395)ccC>ccT	p.P465P	SAMD4B_uc002ola.3_Silent_p.P465P	NM_018028	NP_060498	Q5PRF9	SMAG2_HUMAN	Homo sapiens sterile alpha motif domain containing 4B (SAMD4B), mRNA.	465							protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-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;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CCCCGGCTCCCGTCGCCGACG	0.617000														29			10		0	0	1	0	0
TNK2	10188	broad.mit.edu	37	3	195594499	195594499	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:195594499G>A	uc003fvu.1	-	11	3168	c.2625C>T	c.(2623-2625)ttC>ttT	p.F875F	TNK2_uc003fvq.1_Silent_p.F282F|TNK2_uc003fvr.1_Silent_p.F400F|TNK2_uc003fvs.1_Silent_p.F907F|TNK2_uc003fvt.1_Silent_p.F953F|TNK2_uc010hzw.1_Non-coding_Transcript	NM_005781	NP_005772	Q07912	ACK1_HUMAN	Homo sapiens tyrosine kinase, non-receptor, 2 (TNK2), transcript variant 1, mRNA.	875	EBD domain (By similarity).|Pro-rich.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CCTCACGCAGGAAGCGCTGGT	0.697000														33			12		0	0	1	0	0
BPIFC	254240	broad.mit.edu	37	22	32841898	32841898	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:32841898G>A	uc003amn.2	-	3	460	c.460C>T	c.(460-462)Cct>Tct	p.P154S	BPIFC_uc010gwo.2_5'UTR|BPIFC_uc011amb.1_Intron	NM_174932	NP_777592	Q8NFQ6	BPIL2_HUMAN	Homo sapiens BPI fold containing family C (BPIFC), mRNA.	154						extracellular region	lipopolysaccharide binding|phospholipid binding										TTCAGGGTAGGATGACCAAAG	0.512000														15			16		0	0	1	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144062304	144062304	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:144062304C>T	uc003wel.3	+	1	2660	c.2542C>T	c.(2542-2544)Ccc>Tcc	p.P848S	ARHGEF5_uc003wek.3_Missense_Mutation_p.P848S|ARHGEF5_uc003wem.3_5'Flank	NM_005435	NP_005426	Q12774	ARHG5_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 5 (ARHGEF5), mRNA.	848					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|Rho guanyl-nucleotide exchange factor activity|protein binding			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					CATAGACCCTCCCACCGAACC	0.597000														51			5		0	0	1	0	0
CRCT1	54544	broad.mit.edu	37	1	152487938	152487938	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:152487938C>T	uc021oyy.1	+	0	79	c.79C>T	c.(79-81)Ccg>Tcg	p.P27S	CRCT1_uc001ezz.3_Missense_Mutation_p.P27S	NM_019060	NP_061933	Q9UGL9	CRCT1_HUMAN	Homo sapiens cysteine-rich C-terminal 1 (CRCT1), mRNA.	27										lung(1)|ovary(1)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			gtgtcccgccccggcgcccac	0.711000														9			5		0	0	1	0	0
FCN3	8547	broad.mit.edu	37	1	27701270	27701270	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:27701270G>A	uc001boa.3	-	0	46	c.40C>T	c.(40-42)Ctg>Ttg	p.L14L	FCN3_uc001bob.3_Silent_p.L14L	NM_003665	NP_003656	O75636	FCN3_HUMAN	Homo sapiens ficolin (collagen/fibrinogen domain containing) 3 (Hakata antigen) (FCN3), transcript variant 1, mRNA.	14					complement activation, lectin pathway|signal transduction	collagen|extracellular space	receptor binding|sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CCCCCAAGCAGGAGAAGCCAC	0.642000														27			3		0	0	1	0	0
BCL2L12	83596	broad.mit.edu	37	19	50169132	50169132	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:50169132C>T	uc002ppa.3	+	0	734	c.52C>T	c.(52-54)Cgg>Tgg	p.R18W	IRF3_uc002poy.2_5'Flank|IRF3_uc021uxp.1_Splice_Site|IRF3_uc021uxq.1_Splice_Site|IRF3_uc002pot.2_Splice_Site|IRF3_uc021uxr.1_Splice_Site|IRF3_uc021uxs.1_Splice_Site|IRF3_uc002pow.3_Splice_Site|IRF3_uc021uxo.1_Splice_Site|IRF3_uc002pou.3_Splice_Site|IRF3_uc010end.2_Splice_Site|IRF3_uc002poz.1_5'Flank|IRF3_uc010ene.1_5'Flank|BCL2L12_uc002ppb.3_Missense_Mutation_p.R18W	NM_138639	NP_619580	Q9HB09	B2L12_HUMAN	Homo sapiens BCL2-like 12 (proline rich) (BCL2L12), transcript variant 1, mRNA.	18					apoptosis					central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		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;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		TTTGGGTTTCCGGCCAGAGGC	0.577000														34			20		0	0	1	0	0
FAM71B	153745	broad.mit.edu	37	5	156592780	156592780	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:156592780C>T	uc003lwn.3	-	0	500	c.400G>A	c.(400-402)Gat>Aat	p.D134N		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	134						nucleus		p.H133Q(1)		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)			TTCTCATGATCGTGGATGGAG	0.527000														49			14		0	0	1	0	0
DCAF16	54876	broad.mit.edu	37	4	17805166	17805166	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:17805166G>T	uc003gpn.3	-	2	1660	c.599C>A	c.(598-600)tCt>tAt	p.S200Y	DCAF16_uc021xmp.1_Missense_Mutation_p.S200Y	NM_017741	NP_060211	Q9NXF7	DCA16_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 16 (DCAF16), mRNA.	200						CUL4 RING ubiquitin ligase complex				cervix(1)|endometrium(1)|lung(2)|ovary(1)	5						GTCAGTGTAAGAATAAGTAGT	0.393000														56			17		2.35188e-11	2.38122e-11	1	1	0
FTSJD1	55783	broad.mit.edu	37	16	71318434	71318434	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:71318434A>C	uc021tkr.1	-	0	1390	c.1390T>G	c.(1390-1392)Ttt>Gtt	p.F464V	FTSJD1_uc010cga.3_Missense_Mutation_p.F464V|FTSJD1_uc002ezy.4_Missense_Mutation_p.F464V|FTSJD1_uc002ezz.4_Missense_Mutation_p.F464V	NM_018348	NP_060818	Q8IYT2	FTSJ1_HUMAN	Homo sapiens FtsJ methyltransferase domain containing 1 (FTSJD1), transcript variant 1, mRNA.	464						integral to membrane	methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CAACTATTAAAGTATCCTTTG	0.358000														32			11		0	0	1	0	0
ARNT2	9915	broad.mit.edu	37	15	80845042	80845043	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:80845042_80845043CC>TT	uc002bfr.3	+	9	1182_1183	c.1016_1017CC>TT	c.(1015-1017)tcc>tTT	p.S339F	ARNT2_uc010unm.2_Missense_Mutation_p.S328F|ARNT2_uc002bfs.3_Missense_Mutation_p.S328F	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	Homo sapiens aryl-hydrocarbon receptor nuclear translocator 2 (ARNT2), mRNA.	339	PAS 2.				central nervous system development|in utero embryonic development|response to hypoxia		DNA binding|aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.S339F(2)		NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			GAGTTCTTATCCCGGCATAACT	0.490000														80			23		0	0	1	0	0
RNASE3	6037	broad.mit.edu	37	14	21360026	21360026	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:21360026C>T	uc021roq.1	+	0	181	c.181C>T	c.(181-183)Cga>Tga	p.R61*	RNASE3_uc001vyj.3_Nonsense_Mutation_p.R61*	NM_002935	NP_002926	P12724	ECP_HUMAN	Homo sapiens ribonuclease, RNase A family, 3 (RNASE3), mRNA.	61					RNA catabolic process|defense response to bacterium	extracellular region|soluble fraction	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)	9	all_cancers(95;0.00453)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	Pranlukast(DB01411)	TAACAATTATCGATGGCGTTG	0.448000														27			43		0	0	1	0	0
ITK	3702	broad.mit.edu	37	5	156671278	156671278	+	Silent	SNP	C	T	T	rs55635546		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:156671278C>T	uc003lwo.1	+	12	1321	c.1239C>T	c.(1237-1239)ctC>ctT	p.L413L		NM_005546	NP_005537	Q08881	ITK_HUMAN	Homo sapiens IL2-inducible T-cell kinase (ITK), mRNA.	413	Protein kinase.				T cell receptor signaling pathway|cellular defense response|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCAGGAAACTCTCTCATCCCA	0.493000			T	SYK	peripheral T-cell lymphoma									32			8		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2595382	2595382	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:2595382C>T	uc009zdu.1	+	5	1183	c.870C>T	c.(868-870)ttC>ttT	p.F290F	CACNA1C_uc001qkc.2_Silent_p.F290F|CACNA1C_uc001qjz.2_Silent_p.F290F|CACNA1C_uc001qkd.2_Silent_p.F290F|CACNA1C_uc001qke.2_Silent_p.F290F|CACNA1C_uc001qkf.2_Silent_p.F290F|CACNA1C_uc009zdw.1_Silent_p.F290F|CACNA1C_uc001qkg.2_Silent_p.F290F|CACNA1C_uc001qkh.2_Silent_p.F290F|CACNA1C_uc001qkl.2_Silent_p.F290F|CACNA1C_uc001qkj.2_Silent_p.F290F|CACNA1C_uc001qkk.2_Silent_p.F290F|CACNA1C_uc001qkn.2_Silent_p.F290F|CACNA1C_uc001qkm.2_Silent_p.F290F|CACNA1C_uc001qko.2_Silent_p.F290F|CACNA1C_uc001qkp.2_Silent_p.F290F|CACNA1C_uc001qkq.2_Silent_p.F290F|CACNA1C_uc001qku.2_Silent_p.F290F|CACNA1C_uc001qkr.2_Silent_p.F290F|CACNA1C_uc001qks.2_Silent_p.F290F|CACNA1C_uc001qkt.2_Silent_p.F290F|CACNA1C_uc009zdv.1_Silent_p.F290F|CACNA1C_uc001qkb.2_Silent_p.F290F|CACNA1C_uc001qka.1_5'UTR|CACNA1C_uc001qki.1_Silent_p.F26F	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	290					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)	TGGAGCTCTTCATGGGGAAGA	0.582000														42			13		0	0	1	0	0
DEFA5	1670	broad.mit.edu	37	8	6914202	6914202	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:6914202G>A	uc003wra.1	-	0	58	c.18C>T	c.(16-18)atC>atT	p.I6I		NM_021010	NP_066290	Q01523	DEF5_HUMAN	Homo sapiens defensin, alpha 5, Paneth cell-specific (DEFA5), mRNA.	6					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				NS(1)|lung(4)|skin(1)|stomach(1)	7				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		TGGCAGCAAGGATGGCGATGG	0.587000														44			7		0	0	1	0	0
SLC35F3	148641	broad.mit.edu	37	1	234041307	234041307	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:234041307G>A	uc001hvy.1	+	1	231	c.86G>A	c.(85-87)cGg>cAg	p.R29Q		NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA.	0					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			GTCAGCCCCCGGAGACTGTCC	0.647000														9			17		0	0	1	0	0
PRC1	9055	broad.mit.edu	37	15	91513659	91513659	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:91513659G>T	uc002bqm.3	-	11	1704	c.1547C>A	c.(1546-1548)tCt>tAt	p.S516Y	PRC1_uc002bqn.3_Missense_Mutation_p.S516Y|PRC1_uc002bqo.3_Missense_Mutation_p.S516Y|PRC1_uc010uqs.2_Missense_Mutation_p.S475Y	NM_003981	NP_003972	O43663	PRC1_HUMAN	Homo sapiens protein regulator of cytokinesis 1 (PRC1), transcript variant 1, mRNA.	516	Unstructured, Arg/Lys rich.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding	p.S516S(1)		endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					AGGAAGTCGAGACACGGGGGA	0.542000														502			23		3.28513e-13	3.33442e-13	1	1	0
PKN1	5585	broad.mit.edu	37	19	14562765	14562766	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:14562765_14562766CC>TT	uc002myp.3	+	6	1263_1264	c.1095_1096CC>TT	c.(1093-1098)gcccgg>gcTTgg	p.R366W	PKN1_uc002myq.3_Missense_Mutation_p.R372W	NM_002741	NP_002732	Q16512	PKN1_HUMAN	Homo sapiens protein kinase N1 (PKN1), transcript variant 2, mRNA.	366	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						GCCGCCCAGCCCGGGGCCTTTA	0.663000														19			6		0	0	1	0	0
VARS2	57176	broad.mit.edu	37	6	30883591	30883591	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:30883591C>T	uc011dmz.2	+	4	624	c.543C>T	c.(541-543)tcC>tcT	p.S181S	VARS2_uc003nsc.2_Silent_p.S151S|VARS2_uc003nsd.3_Silent_p.S151S|VARS2_uc011dmx.2_Silent_p.S151S|VARS2_uc011dmy.2_Silent_p.S11S|VARS2_uc011dna.2_Silent_p.S151S|VARS2_uc011dnb.2_Non-coding_Transcript|VARS2_uc011dnc.2_Non-coding_Transcript|VARS2_uc011dnd.2_5'Flank	NM_001167734	NP_001161205	Q5ST30	SYVM_HUMAN	Homo sapiens valyl-tRNA synthetase 2, mitochondrial (putative) (VARS2), transcript variant 1, mRNA.	151					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						TCACTGGCTCCCTGCACATTG	0.572000														56			43		0	0	1	0	0
ZNF28	7576	broad.mit.edu	37	19	53303922	53303922	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:53303922G>A	uc002qad.3	-	3	1333	c.1176C>T	c.(1174-1176)ttC>ttT	p.F392F	ZNF28_uc002qac.3_Silent_p.F338F|ZNF28_uc010eqe.3_Silent_p.F338F|ZNF28_uc021uza.1_Silent_p.F339F	NM_006969	NP_008900	P17035	ZNF28_HUMAN	Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA.	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G392C(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		ATTTGCGACTGAAAACTTTTT	0.383000														56			21		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9066182	9066182	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:9066182G>A	uc002mkp.3	-	2	21468	c.21264C>T	c.(21262-21264)ccC>ccT	p.P7088P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7090	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						TTTCCAGAGAGGGAGAGCTTT	0.498000														26			18		0	0	1	0	0
IQCH	64799	broad.mit.edu	37	15	67692517	67692517	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:67692517G>A	uc002aqo.2	+	13	2068	c.1971G>A	c.(1969-1971)atG>atA	p.M657I	IQCH_uc002aqp.2_Missense_Mutation_p.M318I|IQCH_uc002aqq.2_Missense_Mutation_p.M314I	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	Homo sapiens IQ motif containing H (IQCH), transcript variant 1, mRNA.	657										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		TCTTTAAAATGGACTCTGAGT	0.443000														35			16		0	0	1	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51628527	51628527	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:51628527C>T	uc010yct.2	+	0	391	c.296C>T	c.(295-297)aCc>aTc	p.T99I	SIGLEC9_uc002pvu.3_Missense_Mutation_p.T99I	NM_001198558	NP_001185487	Q9Y336	SIGL9_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 9 (SIGLEC9), transcript variant 1, mRNA.	99	Ig-like V-type.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		GACCCACATACCAAGAATTGC	0.502000														43			24		0	0	1	0	0
DDX42	11325	broad.mit.edu	37	17	61885166	61885166	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:61885166C>T	uc002jbu.3	+	9	1186	c.929C>T	c.(928-930)cCc>cTc	p.P310L	DDX42_uc002jbv.3_Missense_Mutation_p.P310L|DDX42_uc002jbw.1_Missense_Mutation_p.P46L|DDX42_uc002jbx.3_Missense_Mutation_p.P46L	NM_007372	NP_987095	Q86XP3	DDX42_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 42 (DDX42), transcript variant 1, mRNA.	310	Helicase ATP-binding.				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						TTCATTTGGCCCATGTTGATT	0.458000														78			40		0	0	1	0	0
CACNG3	10368	broad.mit.edu	37	16	24372711	24372711	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:24372711G>T	uc002dmf.3	+	3	1677	c.475G>T	c.(475-477)Gcc>Tcc	p.A159S		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	159					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)		TTATATATCAGCCAACGCCGG	0.443000														105			21		5.35356e-11	5.41809e-11	1	1	0
CDH17	1015	broad.mit.edu	37	8	95158228	95158228	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:95158228G>A	uc003ygh.2	-	14	2220	c.2095C>T	c.(2095-2097)Cgg>Tgg	p.R699W	CDH17_uc011lgo.1_Missense_Mutation_p.R485W|CDH17_uc011lgp.1_Missense_Mutation_p.R699W	NM_004063	NP_004054	Q12864	CAD17_HUMAN	Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA.	699	Cadherin 7.					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)			TGGGGACCCCGAAATAAGTGC	0.463000														36			9		0	0	1	0	0
PASK	23178	broad.mit.edu	37	2	242054518	242054518	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:242054518G>A	uc002wao.2	-	13	3406	c.3273C>T	c.(3271-3273)ttC>ttT	p.F1091F	PASK_uc010zol.2_Silent_p.F905F|PASK_uc010zom.2_Silent_p.F1056F|PASK_uc010fzl.2_Silent_p.F1091F|PASK_uc010zon.2_Silent_p.F872F|PASK_uc021vzf.1_Silent_p.F1091F|PASK_uc002wap.3_Silent_p.F634F|PASK_uc002waq.3_Silent_p.F1091F	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA.	1091	Protein kinase.				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	p.L1090V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CGATGAAAGCGAAGAGGTCTA	0.547000														15			50		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140166278	140166278	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:140166278G>A	uc003lhb.2	+	0	403	c.403G>A	c.(403-405)Ggc>Agc	p.G135S	PCDHAC2_uc003lha.2_Missense_Mutation_p.G135S|PCDHAC2_uc003lgz.3_Missense_Mutation_p.G135S	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	150	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)			CGTCTTCAGGGGCAGAGAACA	0.483000														62			15		0	0	1	0	0
MCF2L2	23101	broad.mit.edu	37	3	183097128	183097128	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:183097128C>T	uc003fli.1	-	2	322	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K	MCF2L2_uc003flj.1_Missense_Mutation_p.E78K|MCF2L2_uc003flp.1_Missense_Mutation_p.E113K	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence-like 2 (MCF2L2), mRNA.	78	CRAL-TRIO.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			AGGAAGTCTTCATCTGGGATG	0.532000														32			10		0	0	1	0	0
LSS	4047	broad.mit.edu	37	21	47614446	47614446	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr21:47614446G>A	uc002zij.3	-	19	2026	c.1947C>T	c.(1945-1947)atC>atT	p.I649I	LSS_uc002zil.2_Silent_p.I649I|LSS_uc011afv.1_Silent_p.I638I|LSS_uc002zik.2_Silent_p.I569I	NM_001001438	NP_002331	P48449	ERG7_HUMAN	Homo sapiens lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) (LSS), transcript variant 2, mRNA.	649					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					ATGTGTTATGGATCTGGGACT	0.622000														23			5		0	0	1	0	0
SERINC5	256987	broad.mit.edu	37	5	79465227	79465227	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:79465227G>A	uc011ctj.2	-	5	851	c.694C>T	c.(694-696)Ctg>Ttg	p.L232L	SERINC5_uc003kgj.3_Silent_p.L232L|SERINC5_uc003kgm.3_Silent_p.L232L|SERINC5_uc003kgk.3_Silent_p.L232L|SERINC5_uc003kgl.3_Non-coding_Transcript	NM_001174072	NP_001167543	Q86VE9	SERC5_HUMAN	Homo sapiens serine incorporator 5 (SERINC5), transcript variant 1, mRNA.	232					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)		ACTCCCAGCAGAATTTTGTTT	0.453000														36			14		0	0	1	0	0
WISP1	8840	broad.mit.edu	37	8	134225241	134225241	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:134225241C>T	uc003yub.3	+	1	310	c.204C>T	c.(202-204)ctC>ctT	p.L68L	WISP1_uc003yuc.3_Silent_p.L68L|WISP1_uc010meb.3_Intron|WISP1_uc010mec.3_Silent_p.L68L|WISP1_uc010med.3_Intron|WISP1_uc003yud.3_5'Flank	NM_003882	NP_003873	O95388	WISP1_HUMAN	Homo sapiens WNT1 inducible signaling pathway protein 1 (WISP1), transcript variant 1, mRNA.	68	IGFBP N-terminal.				Wnt receptor signaling pathway|cell adhesion|cell-cell signaling|regulation of cell growth	extracellular region|soluble fraction	insulin-like growth factor binding	p.L68I(1)		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)			GGGTCAGCCTCATCACAGATG	0.647000														23			20		0	0	1	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227441847	227441847	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:227441847A>C	uc001hqr.3	-	1	1131	c.188T>G	c.(187-189)tTt>tGt	p.F63C	CDC42BPA_uc001hqs.3_Missense_Mutation_p.F63C|CDC42BPA_uc009xes.3_Missense_Mutation_p.F63C|CDC42BPA_uc010pvs.2_Missense_Mutation_p.F63C	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN	Homo sapiens CDC42 binding protein kinase alpha (DMPK-like) (CDC42BPA), transcript variant B, mRNA.	63					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.F63L(1)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TTTAGAAGTAAATGGTTTAGC	0.289000														49			15		0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16025132	16025132	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:16025132G>A	uc002nbu.2	-	11	1416	c.1380C>T	c.(1378-1380)ccC>ccT	p.P460P	CYP4F11_uc010eab.1_Missense_Mutation_p.L439F|CYP4F11_uc002nbt.2_Silent_p.P460P	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	460					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						CTGCCGAGAAGGGAATAAAAG	0.562000														118			45		0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12378153	12378153	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:12378153T>A	uc001atv.3	+	30	7314	c.7173T>A	c.(7171-7173)ttT>ttA	p.F2391L	VPS13D_uc001atw.3_Missense_Mutation_p.F2391L|VPS13D_uc001atx.3_Missense_Mutation_p.F1579L|VPS13D_uc001aty.1_Missense_Mutation_p.F129L	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	2391					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CCTCCTGCTTTACAGTAGTTC	0.353000														130			46		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176564652	176564652	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:176564652G>A	uc001gkz.3	+	2	3076	c.1912G>A	c.(1912-1914)Gac>Aac	p.D638N	PAPPA2_uc001gky.1_Missense_Mutation_p.D638N|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	638	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.N637N(1)		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						CATGCTGAACGACTTTGACGA	0.602000														31			25		0	0	1	0	0
LMTK3	114783	broad.mit.edu	37	19	49005706	49005706	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:49005706G>A	uc002pjk.3	-	7	865	c.865C>T	c.(865-867)Cac>Tac	p.H289Y		NM_001080434	NP_001073903			Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA.											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		ACGTAGTTGTGGGAATGCAGG	0.716000														32			12		0	0	1	0	0
STAT2	6773	broad.mit.edu	37	12	56742739	56742739	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:56742739G>A	uc001slc.3	-	16	1748	c.1545C>T	c.(1543-1545)gaC>gaT	p.D515D	STAT2_uc001slb.3_Silent_p.D57D|STAT2_uc001sld.3_Silent_p.D511D|STAT2_uc010sqn.2_3'UTR	NM_005419	NP_005410	P52630	STAT2_HUMAN	Homo sapiens signal transducer and activator of transcription 2, 113kDa (STAT2), transcript variant 1, mRNA.	515					JAK-STAT cascade|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	DNA binding|calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						TGCTCAGCTGGTCTGAGTTGA	0.547000														54			11		0	0	1	0	0
RBM12	10137	broad.mit.edu	37	20	34242626	34242626	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:34242626G>A	uc021wcr.1	-	0	619	c.619C>T	c.(619-621)Cca>Tca	p.P207S	CPNE1_uc010zvj.2_5'Flank|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_Missense_Mutation_p.P207S|RBM12_uc002xds.3_Missense_Mutation_p.P207S|RBM12_uc002xdr.3_Missense_Mutation_p.P207S|RBM12_uc021wcq.1_Missense_Mutation_p.P207S	NM_152838	NP_690051	Q9NTZ6	RBM12_HUMAN	Homo sapiens RNA binding motif protein 12 (RBM12), transcript variant 2, mRNA.	207	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)			ACTGGAATTGGGGGAATGGAT	0.577000														56			15		0	0	1	0	0
SSTR5	6755	broad.mit.edu	37	16	1128891	1128891	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:1128891C>T	uc021taf.1	+	1	94	c.23C>T	c.(22-24)tCc>tTc	p.S8F	LOC146336_uc002cko.3_5'Flank|LOC146336_uc002ckp.1_5'Flank|SSTR5_uc002ckq.3_Missense_Mutation_p.S8F	NM_001172560	NP_001166031	P35346	SSR5_HUMAN	Homo sapiens somatostatin receptor 5 (SSTR5), transcript variant 2, mRNA.	8					negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)	TTCCCAGCCTCCACGCCCAGC	0.721000														10			9		0	0	1	0	0
MPG	4350	broad.mit.edu	37	16	133094	133094	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:133094G>A	uc002cfn.3	+	3	677	c.359G>A	c.(358-360)cGc>cAc	p.R120H	MPG_uc002cfm.3_Missense_Mutation_p.R103H|MPG_uc010bqp.3_Missense_Mutation_p.R103H|MPG_uc002cfo.3_Missense_Mutation_p.R115H	NM_002434	NP_001015054	P29372	3MG_HUMAN	Homo sapiens N-methylpurine-DNA glycosylase (MPG), transcript variant 1, mRNA.	120			R -> C (in dbSNP:rs2308313).		DNA dealkylation involved in DNA repair|depurination	nucleoplasm	alkylbase DNA N-glycosylase activity|damaged DNA binding|identical protein binding			endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				CTCCGAGGCCGCATCGTGGAG	0.637000								Base excision repair (BER), DNA glycosylases						175			4		0	0	1	0	0
OR6K2	81448	broad.mit.edu	37	1	158669854	158669854	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:158669854T>G	uc001fsu.1	-	0	589	c.589A>C	c.(589-591)Att>Ctt	p.I197L		NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 2 (OR6K2), mRNA.	197					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)					ACTACCTGAATCATGACGATG	0.458000														94			18		0	0	1	0	0
SMARCC1	6599	broad.mit.edu	37	3	47632182	47632182	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:47632182G>A	uc003crq.2	-	26	3307	c.3189C>T	c.(3187-3189)ccC>ccT	p.P1063P	SMARCC1_uc011bbc.1_Non-coding_Transcript|SMARCC1_uc011bbd.1_Silent_p.P954P	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 (SMARCC1), mRNA.	1063	Pro-rich.				chromatin remodeling|nervous system development|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		GGGGTACCCGGGGTCCTAAGA	0.577000														31			10		0	0	1	0	0
VSTM1	284415	broad.mit.edu	37	19	54545183	54545183	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:54545183C>T	uc002qcw.4	-	6	716	c.540G>A	c.(538-540)gaG>gaA	p.E180E	VSTM1_uc021vbe.1_Non-coding_Transcript|VSTM1_uc021vbf.1_Silent_p.E92E|VSTM1_uc002qcx.4_Silent_p.E149E|VSTM1_uc010erb.3_Non-coding_Transcript|VSTM1_uc021vbg.1_Silent_p.E60E	NM_198481	NP_940883	Q6UX27	VSTM1_HUMAN	Homo sapiens V-set and transmembrane domain containing 1 (VSTM1), mRNA.	180						integral to membrane				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		CAGCCTCCTGCTCCGGAAGTT	0.498000														22			13		0	0	1	0	0
PRAMEF14	729528	broad.mit.edu	37	1	13669068	13669068	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:13669068G>A	uc009vnw.1	-	3	1301	c.1118C>T	c.(1117-1119)tCc>tTc	p.S373F		NM_001099854	NP_001093324	Q5SWL7	PRA14_HUMAN	Homo sapiens PRAME family member 14 (PRAMEF14), mRNA.	373										large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	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;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)		ACGAACCAAGGAATTCAAACT	0.542000														38			20		0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45811297	45811297	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr21:45811297C>T	uc010gpt.1	+	10	1683	c.1583C>T	c.(1582-1584)cCc>cTc	p.P528L	TRPM2_uc002zet.1_Missense_Mutation_p.P528L|TRPM2_uc002zeu.1_Missense_Mutation_p.P528L|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.P528L|TRPM2_uc002zex.1_Missense_Mutation_p.P314L|TRPM2_uc002zey.1_Missense_Mutation_p.P41L	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	528						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						AACCTGGACCCCTCCTGCCTG	0.627000														76			22		0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72845663	72845663	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:72845663G>A	uc002fck.3	-	6	4350	c.3677C>T	c.(3676-3678)cCc>cTc	p.P1226L	ZFHX3_uc002fcl.3_Missense_Mutation_p.P312L	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	1226					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)				CTTGCAGTAGGGACACTGGTA	0.567000														22			55		0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49670431	49670431	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:49670431C>T	uc002efs.3	-	4	2930	c.2632G>A	c.(2632-2634)Gac>Aac	p.D878N	ZNF423_uc010vgn.2_Missense_Mutation_p.D761N	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	Homo sapiens zinc finger protein 423 (ZNF423), mRNA.	878					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)				GCGTCCACGTCATCCTCGCTG	0.607000														22			22		0	0	1	0	0
TNRC18	84629	broad.mit.edu	37	7	5410522	5410522	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:5410522G>A	uc003soi.4	-	10	4052	c.3703C>T	c.(3703-3705)Cgg>Tgg	p.R1235W		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	Homo sapiens trinucleotide repeat containing 18 (TNRC18), mRNA.	1235							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GGTTCTGTCCGGCCCGGGGAA	0.697000														35			14		0	0	1	0	0
PREPL	9581	broad.mit.edu	37	2	44586749	44586749	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:44586749G>A	uc002ruf.3	-	0	1065	c.106C>T	c.(106-108)Cat>Tat	p.H36Y	PREPL_uc002rug.3_Missense_Mutation_p.H36Y|PREPL_uc002ruh.3_Missense_Mutation_p.H36Y|PREPL_uc010fax.3_Missense_Mutation_p.H36Y|PREPL_uc002rui.4_Intron|PREPL_uc002ruj.2_Intron|PREPL_uc002ruk.2_Missense_Mutation_p.H36Y|CAMKMT_uc002rum.2_5'Flank|CAMKMT_uc002rul.2_5'Flank	NM_006036	NP_006027	Q4J6C6	PPCEL_HUMAN	Homo sapiens prolyl endopeptidase-like (PREPL), transcript variant 1, mRNA.	36					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)				TTGTAACAATGATCAGCGAAG	0.353000														61			30		0	0	1	0	0
FBXO40	51725	broad.mit.edu	37	3	121341989	121341989	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:121341989T>G	uc003eeg.2	+	2	1923	c.1713T>G	c.(1711-1713)aaT>aaG	p.N571K		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	Homo sapiens F-box protein 40 (FBXO40), mRNA.	571	F-box.				muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		AAAGCCAGAATTCTTTAACCA	0.527000														59			22		0	0	1	0	0
FANCI	55215	broad.mit.edu	37	15	89805055	89805055	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:89805055T>A	uc010bnp.1	+	5	539	c.449T>A	c.(448-450)gTa>gAa	p.V150E	FANCI_uc002bnm.1_Missense_Mutation_p.V150E|FANCI_uc002bnn.1_Non-coding_Transcript|FANCI_uc002bno.3_Missense_Mutation_p.V150E|FANCI_uc002bnp.1_5'Flank	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN	Homo sapiens Fanconi anemia, complementation group I (FANCI), transcript variant 1, mRNA.	150					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)					TTTCTAGGTGTACTGAGTGGG	0.368000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					61			114		0	0	1	0	0
EFNB3	1949	broad.mit.edu	37	17	7611794	7611794	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:7611794G>A	uc002gis.3	+	2	854	c.457G>A	c.(457-459)Gga>Aga	p.G153R		NM_001406	NP_001397	Q15768	EFNB3_HUMAN	Homo sapiens ephrin-B3 (EFNB3), mRNA.	153					cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				GAGCCTGCAGGGAGGTGTGTG	0.617000														9			3		0	0	1	0	0
FLRT1	23769	broad.mit.edu	37	11	63883808	63883808	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:63883808G>A	uc021qks.1	+	0	69	c.69G>A	c.(67-69)gtG>gtA	p.V23V	MACROD1_uc001nyh.3_Intron|FLRT1_uc001nyi.1_Silent_p.V23V	NM_013280	NP_037412	Q9NZU1	FLRT1_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 1 (FLRT1), mRNA.	0	LRRNT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						ccaccgttgtgatgaccacgg	0.682000														6			8		0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121649722	121649722	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:121649722C>T	uc003eep.2	+	17	1742	c.1589C>T	c.(1588-1590)tCc>tTc	p.S530F	SLC15A2_uc011bjn.1_Missense_Mutation_p.S499F	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	530					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	GTCAACATCTCCCTGAGTACA	0.413000														32			9		0	0	1	0	0
PRDX6	9588	broad.mit.edu	37	1	173454548	173454548	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:173454548C>T	uc001giy.1	+	2	352	c.301C>T	c.(301-303)Ccc>Tcc	p.P101S		NM_004905	NP_004896	P30041	PRDX6_HUMAN	Homo sapiens peroxiredoxin 6 (PRDX6), mRNA.	101	Thioredoxin.				cell redox homeostasis|phospholipid catabolic process	cytoplasmic membrane-bounded vesicle|cytosol|lysosome	peroxiredoxin activity|phospholipase A2 activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	12						GTTACCTTTTCCCATCATCGA	0.468000														43			26		0	0	1	0	0
ITSN1	6453	broad.mit.edu	37	21	35254664	35254664	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr21:35254664C>T	uc002yta.1	+	34	4727	c.4459C>T	c.(4459-4461)Ctc>Ttc	p.L1487F	DONSON_uc002ysn.1_Intron|ITSN1_uc002ytb.1_Missense_Mutation_p.L1482F|ITSN1_uc002ytj.2_Missense_Mutation_p.L1426F|ITSN1_uc010gmm.1_Non-coding_Transcript|ITSN1_uc010gmn.1_Intron|ITSN1_uc002ytk.1_Intron	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA.	1487	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	Rho guanyl-nucleotide exchange factor activity|calcium ion binding|proline-rich region binding|protein complex scaffold	p.L1487L(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CAACGACTTCCTCCTGCTGAC	0.483000														40			11		0	0	1	0	0
TMEM225	338661	broad.mit.edu	37	11	123753996	123753996	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:123753996T>G	uc001pzi.3	-	3	735	c.527A>C	c.(526-528)aAa>aCa	p.K176T		NM_001013743	NP_001013765	Q6GV28	TM225_HUMAN	Homo sapiens transmembrane protein 225 (TMEM225), mRNA.	176						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						GTTGTCAGATTTATGGATGTT	0.458000														14			9		0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75993911	75993911	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:75993911G>A	uc003kek.3	+	32	4528	c.4306G>A	c.(4306-4308)Gaa>Aaa	p.E1436K	IQGAP2_uc011csv.2_Missense_Mutation_p.E932K|IQGAP2_uc003kel.3_Missense_Mutation_p.E932K|IQGAP2_uc010izw.1_Missense_Mutation_p.E137K	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA.	1436					small GTPase mediated signal transduction	actin cytoskeleton	GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		AGCATTTTATGAAGAGCAAAT	0.328000														22			5		0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81167179	81167180	+	Missense_Mutation	DNP	CT	TC	TC			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:81167179_81167180CT>TC	uc002fgh.1	-	34	5842_5843	c.5842_5843AG>GA	c.(5842-5844)aga>GAa	p.R1948E	PKD1L2_uc002fgf.1_5'UTR|PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	1949					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CAGGATTTCTCTGATGAGGGCA	0.520000														19			3		0	0	1	0	0
LY96	23643	broad.mit.edu	37	8	74922288	74922288	+	Missense_Mutation	SNP	G	A	A	rs143608308		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:74922288G>A	uc003yad.3	+	2	369	c.255G>A	c.(253-255)atG>atA	p.M85I	LY96_uc022awb.1_Missense_Mutation_p.M55I	NM_015364	NP_056179	Q9Y6Y9	LY96_HUMAN	Homo sapiens lymphocyte antigen 96 (LY96), transcript variant 1, mRNA.	85					I-kappaB kinase/NF-kappaB cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|cellular defense response|detection of lipopolysaccharide|inflammatory response|innate immune response|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	extracellular space|lipopolysaccharide receptor complex|plasma membrane	coreceptor activity|lipopolysaccharide receptor activity|protein binding			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			TCAACACCATGAATCTTCCAA	0.343000														33			25		0	0	1	0	0
NTNG1	22854	broad.mit.edu	37	1	107691340	107691340	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:107691340G>A	uc001dvh.4	+	1	843	c.125G>A	c.(124-126)gGg>gAg	p.G42E	NTNG1_uc001dvc.4_Missense_Mutation_p.G42E|NTNG1_uc010out.2_Missense_Mutation_p.G42E|NTNG1_uc001dvf.4_Missense_Mutation_p.G42E|NTNG1_uc001dvd.1_Missense_Mutation_p.G42E	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	Homo sapiens netrin G1 (NTNG1), transcript variant 1, mRNA.	42					axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		ACGGAAGAAGGGAAAGTTTGG	0.473000														77			18		0	0	1	0	0
ZNF33B	7582	broad.mit.edu	37	10	43089078	43089078	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:43089078G>A	uc001jaf.1	-	4	1435	c.1320C>T	c.(1318-1320)ccC>ccT	p.P440P	ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Silent_p.P328P|ZNF33B_uc001jad.3_Intron	NM_006955	NP_008886	Q06732	ZN33B_HUMAN	Homo sapiens zinc finger protein 33B (ZNF33B), mRNA.	440						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						AACATTCATAGGGTTTCTGCC	0.403000														54			17		0	0	1	0	0
TNKS	8658	broad.mit.edu	37	8	9623898	9623898	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:9623898C>T	uc003wss.3	+	24	3708	c.3703C>T	c.(3703-3705)Cct>Tct	p.P1235S	TNKS_uc011kww.2_Missense_Mutation_p.P998S	NM_003747	NP_003738	O95271	TNKS1_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase (TNKS), mRNA.	1235	PARP catalytic.				Wnt receptor signaling pathway|mRNA transport|mitotic spindle organization|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport	Golgi membrane|chromosome, centromeric region|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		AACAGGCTGCCCTACACACAA	0.433000														40			10		0	0	1	0	0
KRTAP12-3	386683	broad.mit.edu	37	21	46077903	46077903	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr21:46077903C>T	uc002zft.3	+	0	55	c.7C>T	c.(7-9)Cac>Tac	p.H3Y	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198697	NP_941970	P60328	KR123_HUMAN	Homo sapiens keratin associated protein 12-3 (KRTAP12-3), mRNA.	3						intermediate filament				central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CACCATGTGCCACACCAGCTG	0.612000														128			30		0	0	1	0	0
GPR52	9293	broad.mit.edu	37	1	174417261	174417261	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:174417261C>T	uc001gka.1	+	0	50	c.12C>T	c.(10-12)tcC>tcT	p.S4S	RABGAP1L_uc001gjw.3_Intron|RABGAP1L_uc001gjx.3_Intron|RABGAP1L_uc001gjy.3_Intron|RABGAP1L_uc001gjz.3_Intron	NM_005684	NP_005675	Q9Y2T5	GPR52_HUMAN	Homo sapiens G protein-coupled receptor 52 (GPR52), mRNA.	4						integral to plasma membrane	G-protein coupled receptor activity			breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						TGAATGAATCCAGGTGGACTG	0.507000														56			24		0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134628363	134628363	+	Silent	SNP	C	T	T	rs150957319	byFrequency	TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:134628363C>T	uc021qbc.1	-	50	7274	c.7173G>A	c.(7171-7173)gcG>gcA	p.A2391A		NM_001200049	NP_001186978	Q8IYW2	CJ092_HUMAN	Homo sapiens tetratricopeptide repeat domain 40 (TTC40), mRNA.	552										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						TGCCCTTCTTCGCTAGGCTTC	0.597000														110			43		0	0	1	0	0
NAT2	10	broad.mit.edu	37	8	18257710	18257710	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:18257710G>A	uc022asl.1	+	0	197	c.197G>A	c.(196-198)gGg>gAg	p.G66E	NAT2_uc003wyw.1_Missense_Mutation_p.G66E	NM_000015	NP_000006	P11245	ARY2_HUMAN	Homo sapiens N-acetyltransferase 2 (arylamine N-acetyltransferase) (NAT2), mRNA.	66					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		AACCGGGGTGGGTGGTGTCTC	0.473000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of					73			22		0	0	1	0	0
DIO3	1735	broad.mit.edu	37	14	102027870	102027870	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:102027870G>A	uc021sdx.1	+	0	183	c.37G>A	c.(37-39)Gag>Aag	p.E13K	DIO3AS_uc001ykd.1_5'Flank|DIO3OS_uc001yke.3_5'Flank|DIO3AS_uc001ykf.3_5'Flank|DIO3AS_uc001ykg.3_5'Flank|DIO3AS_uc001ykh.3_5'Flank|DIO3AS_uc021sdw.1_5'Flank	NM_001362	NP_001353	P55073	IOD3_HUMAN	Homo sapiens deiodinase, iodothyronine, type III (DIO3), mRNA.	0					cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				GGTGGTCGGAGAGGGCGAGGG	0.657000														18			4		0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99641751	99641751	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:99641751C>T	uc001yga.3	-	3	1689	c.1422G>A	c.(1420-1422)atG>atA	p.M474I	BCL11B_uc001ygb.3_Missense_Mutation_p.M403I	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.	474						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		TGTGCGTCTTCATGTGGCGCT	0.706000			T	TLX3	T-ALL									16			7		0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73748625	73748625	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:73748625G>A	uc002jpg.3	+	31	4262	c.4075G>A	c.(4075-4077)Ggc>Agc	p.G1359S	ITGB4_uc002jph.3_Missense_Mutation_p.G1359S|ITGB4_uc002jpi.4_Missense_Mutation_p.G1359S|ITGB4_uc002jpj.3_Missense_Mutation_p.G1359S	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	1359					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTCTCCATCGGGCAGCCAGAG	0.597000														118			22		0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55136274	55136274	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:55136274T>A	uc010rif.2	+	0	915	c.915T>A	c.(913-915)ttT>ttA	p.F305L		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TTCTAACTTTTATAACTCCCA	0.383000														107			29		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140182649	140182649	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:140182649C>T	uc003lhf.2	+	0	1867	c.1867C>T	c.(1867-1869)Cgc>Tgc	p.R623C	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.R623C	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	634	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)			CATCCCGTTTCGCGTGGGGCT	0.662000														65			33		0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234580612	234580612	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:234580612C>T	uc002vus.3	+	0	69	c.32C>T	c.(31-33)cCt>cTt	p.P11L	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Missense_Mutation_p.P11L	NM_021027	NP_066307	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A9 (UGT1A9), mRNA.	14					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)	AGCCCCCTTCCTCTATGTGTG	0.557000														13			20		0	0	1	0	0
KCNMA1	3778	broad.mit.edu	37	10	78709080	78709080	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:78709080C>T	uc001jxn.3	-	21	2706	c.2529G>A	c.(2527-2529)gtG>gtA	p.V843V	KCNMA1_uc021ptu.1_Silent_p.V735V|KCNMA1_uc001jxj.2_Silent_p.V789V|KCNMA1_uc001jxk.1_Silent_p.V461V|KCNMA1_uc009xrt.1_Silent_p.V634V|KCNMA1_uc001jxl.1_Silent_p.V468V|KCNMA1_uc001jxo.3_Silent_p.V826V|KCNMA1_uc001jxm.3_Silent_p.V785V|KCNMA1_uc001jxq.3_Silent_p.V788V	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (KCNMA1), transcript variant 3, mRNA.	843	Segment S9.				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	AGATGCAGACCACGACATGGC	0.552000														15			9		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9071657	9071657	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:9071657T>A	uc002mkp.3	-	2	15993	c.15789A>T	c.(15787-15789)aaA>aaT	p.K5263N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5265	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						TTTCTGCAGATTTTGTCTTAA	0.512000														54			16		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168180053	168180053	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:168180053C>T	uc010jjg.3	-	17	2300	c.1880G>A	c.(1879-1881)gGc>gAc	p.G627D	SLIT3_uc003mab.3_Missense_Mutation_p.G627D	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	627					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGAACTCAGGCCGGCAAAGGT	0.542000														21			13		0	0	1	0	0
NUP107	57122	broad.mit.edu	37	12	69120309	69120309	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:69120309C>T	uc001suf.3	+	18	1722	c.1607C>T	c.(1606-1608)tCc>tTc	p.S536F	NUP107_uc001sug.3_Missense_Mutation_p.S383F|NUP107_uc010stj.2_Missense_Mutation_p.S507F	NM_020401	NP_065134	P57740	NU107_HUMAN	Homo sapiens nucleoporin 107kDa (NUP107), mRNA.	536					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			AAATGGCTTTCCAAAAGCAGA	0.348000														22			49		0	0	1	0	0
CIITA	4261	broad.mit.edu	37	16	11001416	11001416	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:11001416G>A	uc002daj.4	+	10	2203	c.2070G>A	c.(2068-2070)gcG>gcA	p.A690A	CIITA_uc002dai.4_Silent_p.A689A|CIITA_uc002dak.4_Intron|CIITA_uc002dag.2_Silent_p.A689A|CIITA_uc002dah.2_Silent_p.A641A|CIITA_uc010bup.1_Intron	NM_000246	NP_000237	P33076	C2TA_HUMAN	Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA.	689	NACHT.				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	ATP binding|activating transcription factor binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						GGACCTGGGCGATGGCCAAAG	0.657000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """									46			42		0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100210592	100210592	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:100210592G>A	uc002taf.3	-	13	1750	c.1606C>T	c.(1606-1608)Ccc>Tcc	p.P536S	AFF3_uc002tag.3_Missense_Mutation_p.P511S|AFF3_uc010fiq.1_Missense_Mutation_p.P511S|AFF3_uc010yvr.1_Missense_Mutation_p.P664S|AFF3_uc002tah.1_Missense_Mutation_p.P536S	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	511					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CAAACGTCGGGGACTTTCCCA	0.547000														34			83		0	0	1	0	0
AL117485	0	broad.mit.edu	37	22	18844766	18844766	+	RNA	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:18844766G>A	uc002zoe.3	+	3		c.2020G>A			AL117485_uc002zof.3_5'Flank					Homo sapiens cDNA FLJ76361 complete cds.																		CAGCCTCTGAGGGCAGCAGTG	0.557000														9			3		0	0	1	0	0
EPS8	2059	broad.mit.edu	37	12	15818773	15818773	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:15818773G>A	uc009zif.3	-	7	747	c.653C>T	c.(652-654)cCt>cTt	p.P218L	EPS8_uc001rdb.3_Missense_Mutation_p.P218L|EPS8_uc009zig.3_Intron	NM_004447	NP_004438	Q12929	EPS8_HUMAN	Homo sapiens epidermal growth factor receptor pathway substrate 8 (EPS8), mRNA.	218					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		AGGGGGCGCAGGGGCAGGAGC	0.507000														44			19		0	0	1	0	0
OR5M9	390162	broad.mit.edu	37	11	56229998	56229998	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:56229998C>T	uc010rjj.2	-	0	880	c.880G>A	c.(880-882)Gat>Aat	p.D294N	OR8U8_uc001nit.2_Intron	NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 9 (OR5M9), mRNA.	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K293N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					TCTTTTACATCCTTATTTCTC	0.403000														55			36		0	0	1	0	0
CELF2	10659	broad.mit.edu	37	10	11299807	11299807	+	Silent	SNP	C	T	T	rs17853611		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:11299807C>T	uc001ikk.2	+	4	670	c.510C>T	c.(508-510)atC>atT	p.I170I	CELF2_uc010qbi.2_5'UTR|CELF2_uc010qbj.1_Silent_p.I163I|CELF2_uc001iki.4_Silent_p.I163I|CELF2_uc001ikl.4_Silent_p.I170I|CELF2_uc010qbk.1_Non-coding_Transcript|CELF2_uc010qbl.1_Silent_p.I139I|CELF2_uc010qbm.1_5'UTR|CELF2_uc001iko.4_Silent_p.I139I|CELF2_uc001ikp.4_Silent_p.I139I|CELF2_uc009xiw.1_3'UTR|CELF2_uc010qbo.1_Silent_p.I52I|CELF2_uc010qbp.1_5'UTR	NM_001083591	NP_001077060	O95319	CELF2_HUMAN	Homo sapiens CUGBP, Elav-like family member 2 (CELF2), transcript variant 4, mRNA.	163	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 2.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	RNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						AATGCCGGATCCTCCGGGGAC	0.488000														27			13		0	0	1	0	0
RAI2	10742	broad.mit.edu	37	X	17819414	17819414	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:17819414G>A	uc022btm.1	-	0	717	c.717C>T	c.(715-717)ccC>ccT	p.P239P	RAI2_uc004cyf.3_Silent_p.P239P|RAI2_uc004cyg.3_Silent_p.P239P|RAI2_uc011miy.2_Silent_p.P189P|RAI2_uc022btl.1_Silent_p.P239P|RAI2_uc004cyh.4_Silent_p.P239P|RAI2_uc010nfa.3_Silent_p.P239P	NM_021785	NP_068557	Q9Y5P3	RAI2_HUMAN	Homo sapiens retinoic acid induced 2 (RAI2), transcript variant 2, mRNA.	239	Pro-rich.				embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					GCACAGGCAAGGGGACGATTA	0.602000														12			15		0	0	1	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36125020	36125020	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:36125020G>A	uc001wtj.3	-	27	4362	c.3971C>T	c.(3970-3972)tCc>tTc	p.S1324F	RALGAPA1_uc010amp.3_Non-coding_Transcript|RALGAPA1_uc001wti.3_Missense_Mutation_p.S1324F|RALGAPA1_uc010tpv.2_Missense_Mutation_p.S1337F|RALGAPA1_uc010tpw.1_Missense_Mutation_p.S1371F	NM_194301	NP_919277	Q6GYQ0	RGPA1_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 1 (catalytic) (RALGAPA1), transcript variant 2, mRNA.	1324					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	Ral GTPase activator activity|protein heterodimerization activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TACCTTTAAGGAAACACAAAT	0.308000														23			32		0	0	1	0	0
KDM4B	23030	broad.mit.edu	37	19	5135530	5135530	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:5135530C>T	uc010xim.2	+	14	2476	c.2368C>T	c.(2368-2370)Ccc>Tcc	p.P790S	KDM4B_uc002mbq.4_Missense_Mutation_p.P756S|KDM4B_uc002mbr.4_Missense_Mutation_p.P514S	NM_015015	NP_055830	O94953	KDM4B_HUMAN	Homo sapiens lysine (K)-specific demethylase 4B (KDM4B), mRNA.	756					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						CGGGACCAGCCCCCTGATCGC	0.662000														8			6		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13365981	13365981	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:13365981G>A	uc002mwy.3	-	28	4919	c.4683C>T	c.(4681-4683)ttC>ttT	p.F1561F	CACNA1A_uc002mwx.3_Silent_p.F267F|CACNA1A_uc010dzc.2_Silent_p.F1087F|CACNA1A_uc010xnd.2_Silent_p.F1564F|CACNA1A_uc021ups.1_Silent_p.F1561F|CACNA1A_uc010xne.2_Silent_p.F1564F|CACNA1A_uc010dze.2_Silent_p.F1561F|CACNA1A_uc021upt.1_Silent_p.F1562F|CACNA1A_uc002mwv.3_Silent_p.F78F	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	1562					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	p.F1562F(3)		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)	GAGACACCACGAACTGCCACA	0.587000														23			8		0	0	1	0	0
POU3F3	5455	broad.mit.edu	37	2	105473243	105473243	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:105473243C>T	uc010ywg.2	+	0	1275	c.1275C>T	c.(1273-1275)ttC>ttT	p.F425F		NM_006236	NP_006227	P20264	PO3F3_HUMAN	Homo sapiens POU class 3 homeobox 3 (POU3F3), mRNA.	425					metanephric DCT cell differentiation|metanephric ascending thin limb development|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						AGAGCCACTTCCTCAAGTGCC	0.657000														22			11		0	0	1	0	0
KRTAP10-4	386672	broad.mit.edu	37	21	45993945	45993945	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr21:45993945C>T	uc002zfk.1	+	0	340	c.310C>T	c.(310-312)Ccc>Tcc	p.P104S	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198687	NP_941960	P60372	KR104_HUMAN	Homo sapiens keratin associated protein 10-4 (KRTAP10-4), mRNA.	104	36 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						TGCCTCCTCCCCCTGCCAGCA	0.657000														97			21		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41015530	41015530	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:41015530T>A	uc003jmj.4	-	28	3425	c.2935A>T	c.(2935-2937)Agt>Tgt	p.S979C	HEATR7B2_uc003jmi.4_Missense_Mutation_p.S534C	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	979							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						ACGTCATCACTTTCCAGCCCT	0.403000														19			28		0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166924661	166924661	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:166924661G>A	uc003irh.2	+	5	1398	c.751G>A	c.(751-753)Gaa>Aaa	p.E251K	TLL1_uc021xud.1_Missense_Mutation_p.E251K|TLL1_uc011cjn.2_Missense_Mutation_p.E251K|TLL1_uc011cjo.2_Missense_Mutation_p.E75K	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	251	Metalloprotease (By similarity).				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)		CTTTTGGCATGAACACACAAG	0.448000														30			8		0	0	1	0	0
C14orf118	55668	broad.mit.edu	37	14	76621053	76621053	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:76621053C>T	uc001xsh.3	+	1	433	c.347C>T	c.(346-348)tCc>tTc	p.S116F	C14orf118_uc001xsi.3_Missense_Mutation_p.S116F|C14orf118_uc001xsj.1_Missense_Mutation_p.S116F|C14orf118_uc001xsk.1_Missense_Mutation_p.S116F|C14orf118_uc001xsl.3_Non-coding_Transcript	NM_017926	NP_060396	Q9NWQ4	CN118_HUMAN	Homo sapiens chromosome 14 open reading frame 118 (C14orf118), transcript variant 1, mRNA.	116										endometrium(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|skin(2)	16				BRCA - Breast invasive adenocarcinoma(234;0.0172)		GAATCTGACTCCTTTACTGAA	0.493000														30			13		0	0	1	0	0
ITGB3	3690	broad.mit.edu	37	17	45380161	45380161	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:45380161G>A	uc002ilj.3	+	12	2109	c.2089G>A	c.(2089-2091)Gaa>Aaa	p.E697K	ITGB3_uc010wkr.1_Non-coding_Transcript	NM_000212	NP_000203	P05106	ITB3_HUMAN	Homo sapiens integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) (ITGB3), mRNA.	697					activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	CCAGTACTATGAAGATTCTAG	0.507000														41			7		0	0	1	0	0
SEMA3E	9723	broad.mit.edu	37	7	83023623	83023623	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:83023623G>A	uc003uhy.2	-	12	2111	c.1490C>T	c.(1489-1491)tCt>tTt	p.S497F	SEMA3E_uc022agy.1_Missense_Mutation_p.S437F	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	497	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				CCGCTTTGAAGAAATCTCCAT	0.323000														14			9		0	0	1	0	0
CHSY1	22856	broad.mit.edu	37	15	101775564	101775564	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:101775564C>T	uc021sxt.1	-	1	1015	c.539G>A	c.(538-540)cGt>cAt	p.R180H		NM_014918	NP_055733	Q86X52	CHSS1_HUMAN	Homo sapiens chondroitin sulfate synthase 1 (CHSY1), mRNA.	180					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTTCTCCAGACGGTCTCCTTT	0.502000														89			14		0	0	1	0	0
BRPF3	27154	broad.mit.edu	37	6	36168431	36168431	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:36168431C>T	uc003olv.4	+	1	556	c.332C>T	c.(331-333)tCc>tTc	p.S111F	BRPF3_uc010jwb.3_Missense_Mutation_p.S111F|BRPF3_uc011dtj.2_Non-coding_Transcript|BRPF3_uc010jwc.3_Non-coding_Transcript|BRPF3_uc011dtk.2_Missense_Mutation_p.S111F	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	Homo sapiens bromodomain and PHD finger containing, 3 (BRPF3), mRNA.	111					histone H3 acetylation|platelet activation|platelet degranulation	MOZ/MORF histone acetyltransferase complex|cytosol|extracellular region	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						TCTGGTACTTCCTTCCACCTC	0.547000														113			14		0	0	1	0	0
FCAR	2204	broad.mit.edu	37	19	55399494	55399494	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:55399494A>T	uc002qhr.1	+	3	679	c.482A>T	c.(481-483)gAg>gTg	p.E161V	FCAR_uc021vbp.1_Non-coding_Transcript|FCAR_uc002qhq.3_Missense_Mutation_p.E161V|FCAR_uc002qhs.1_Intron|FCAR_uc002qht.1_Missense_Mutation_p.E134V|FCAR_uc010esi.1_Intron|FCAR_uc002qhu.1_Intron|FCAR_uc002qhv.1_Missense_Mutation_p.E161V|FCAR_uc002qhw.1_Missense_Mutation_p.E149V|FCAR_uc002qhx.1_Intron|FCAR_uc002qhy.1_Missense_Mutation_p.E149V|FCAR_uc002qhz.1_Missense_Mutation_p.E149V|FCAR_uc002qia.1_Missense_Mutation_p.E52V	NM_002000	NP_001991	P24071	FCAR_HUMAN	Homo sapiens Fc fragment of IgA, receptor for (FCAR), transcript variant 1, mRNA.	161	Ig-like C2-type 2.				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		CTGGCCAAGGAGGGAGAACTT	0.527000														14			8		0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79069818	79069818	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:79069818C>T	uc002bej.4	-	8	1646	c.1435G>A	c.(1435-1437)Ggg>Agg	p.G479R	ADAMTS7_uc010und.1_Intron|ADAMTS7_uc002bek.1_Missense_Mutation_p.G479R	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	479	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GAGTAGGCCCCGTACTGGAGG	0.652000														17			7		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9070319	9070319	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:9070319G>A	uc002mkp.3	-	2	17331	c.17127C>T	c.(17125-17127)gcC>gcT	p.A5709A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5711	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						AAGCATGCATGGCTTCTGTGT	0.507000														29			12		0	0	1	0	0
RBM28	55131	broad.mit.edu	37	7	127973380	127973380	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:127973380G>A	uc003vmp.2	-	8	1098	c.983C>T	c.(982-984)cCc>cTc	p.P328L	RBM28_uc011koj.1_Missense_Mutation_p.P187L|RBM28_uc011kok.1_Missense_Mutation_p.P275L	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN	Homo sapiens RNA binding motif protein 28 (RBM28), transcript variant 1, mRNA.	328					RNA splicing|mRNA processing	Golgi apparatus|nucleolus|spliceosomal complex	RNA binding|nucleotide binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						CACATCAGAGGGTAATTTCCT	0.373000														31			5		0	0	1	0	0
PPAP2B	8613	broad.mit.edu	37	1	56990164	56990164	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:56990164G>A	uc001cyj.2	-	2	928	c.360C>T	c.(358-360)aaC>aaT	p.N120N		NM_003713	NP_003704	O14495	LPP3_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2B (PPAP2B), mRNA.	120					canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process	Golgi apparatus|adherens junction|integral to membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						CCACGTAGGGGTTCTGAATCG	0.507000														46			19		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2965252	2965252	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:2965252C>T	uc022aqr.1	-	44	7213	c.6823G>A	c.(6823-6825)Gat>Aat	p.D2275N	CSMD1_uc011kwj.2_Missense_Mutation_p.D1668N|CSMD1_uc010lrg.3_Missense_Mutation_p.D344N	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2276	Sushi 13.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATTTCGAAATCATCATCCTCA	0.348000														31			18		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140188900	140188900	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:140188900C>A	uc003lhi.2	+	0	2229	c.2128C>A	c.(2128-2130)Ctt>Att	p.L710I	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.L710I|PCDHAC2_uc011daa.2_Missense_Mutation_p.L710I	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	718					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)			GGTGTCCAGCCTTTTGGTGCT	0.662000														59			20		3.5997e-14	3.65677e-14	1	1	0
SLC1A3	6507	broad.mit.edu	37	5	36629616	36629616	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:36629616C>T	uc003jkj.4	+	2	722	c.246C>T	c.(244-246)tcC>tcT	p.S82S	SLC1A3_uc011cox.2_Intron|SLC1A3_uc010iuy.3_Silent_p.S82S	NM_004172	NP_004163	P43003	EAA1_HUMAN	Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 3 (SLC1A3), transcript variant 1, mRNA.	82					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	AGTACTTCTCCTTTCCTGGGG	0.398000														110			31		0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48741202	48741202	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:48741202G>A	uc002isl.3	+	8	1239	c.1159G>A	c.(1159-1161)Ggt>Agt	p.G387S	ABCC3_uc002isk.4_Missense_Mutation_p.G387S|ABCC3_uc002ism.3_Missense_Mutation_p.G69S	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	387	ABC transmembrane type-1 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	TGGGATCATGGGTGTCATCTA	0.547000														57			6		0	0	1	0	0
CDC20B	166979	broad.mit.edu	37	5	54416363	54416363	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:54416363G>A	uc003jpo.2	-	9	1408	c.1231C>T	c.(1231-1233)Ccc>Tcc	p.P411S	CDC20B_uc003jpn.2_Missense_Mutation_p.P411S|CDC20B_uc010ivu.2_Intron	NM_001170402	NP_001163873	Q86Y33	CD20B_HUMAN	Homo sapiens cell division cycle 20 homolog B (S. cerevisiae) (CDC20B), transcript variant 3, mRNA.	411										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			GACTGCCAGGGACACCAATCC	0.488000														61			13		0	0	1	0	0
KRT36	8689	broad.mit.edu	37	17	39644581	39644581	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:39644581C>T	uc002hwt.3	-	2	613	c.613G>A	c.(613-615)Gag>Aag	p.E205K		NM_003771	NP_003762	O76013	KRT36_HUMAN	Homo sapiens keratin 36 (KRT36), mRNA.	205	Coil 1B.|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)				AGGGTCAGCTCATCCAGGATC	0.592000														58			53		0	0	1	0	0
DLG1	1739	broad.mit.edu	37	3	197009702	197009702	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:197009702A>T	uc010ial.3	-	3	425	c.166T>A	c.(166-168)Tat>Aat	p.Y56N	DLG1_uc011bud.2_5'UTR|DLG1_uc003fxo.4_Missense_Mutation_p.Y56N|DLG1_uc003fxn.4_Missense_Mutation_p.Y56N|DLG1_uc011bue.2_Missense_Mutation_p.Y56N|DLG1_uc011buf.1_Non-coding_Transcript|DLG1_uc003fxp.2_Non-coding_Transcript|DLG1_uc010iam.1_Missense_Mutation_p.Y56N	NM_001098424	NP_001091894	Q12959	DLG1_HUMAN	Homo sapiens discs, large homolog 1 (Drosophila) (DLG1), transcript variant 1, mRNA.	56	L27.				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	MPP7-DLG1-LIN7 complex|basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	L27 domain binding|cytoskeletal protein binding|guanylate kinase activity|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein C-terminus binding|protein binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		GTCACTTCATAAAATTCTTGA	0.313000														110			28		0	0	1	0	0
GGN	199720	broad.mit.edu	37	19	38876690	38876690	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:38876690C>T	uc002oij.1	-	2	1347	c.1212G>A	c.(1210-1212)cgG>cgA	p.R404R	GGN_uc002oik.1_Intron|GGN_uc010efy.1_Silent_p.R321R	NM_152657	NP_689870	Q86UU5	GGN_HUMAN	Homo sapiens gametogenetin (GGN), mRNA.	404	Interaction with GGNBP1 (By similarity).|Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GTGCGGGCCTCCGGGGCCCGG	0.726000														6			5		0	0	1	0	0
GSN	2934	broad.mit.edu	37	9	124065235	124065235	+	Silent	SNP	C	T	T	rs116956127	byFrequency	TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:124065235C>T	uc004blf.1	+	2	457	c.396C>T	c.(394-396)acC>acT	p.T132T	GSN_uc004bld.1_Silent_p.T81T|GSN_uc010mvr.1_Silent_p.T92T|GSN_uc010mvq.1_Silent_p.T92T|GSN_uc010mvu.1_Silent_p.T81T|GSN_uc010mvt.1_Silent_p.T81T|GSN_uc010mvs.1_Silent_p.T81T|GSN_uc004ble.1_Silent_p.T81T|GSN_uc010mvv.1_Silent_p.T81T|GSN_uc011lyh.1_Silent_p.T98T|GSN_uc011lyi.1_Silent_p.T81T|GSN_uc011lyj.1_Silent_p.T105T	NM_000177	NP_000168	P06396	GELS_HUMAN	Homo sapiens gelsolin (GSN), transcript variant 1, mRNA.	132	Actin-severing (Potential).				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						CCATCTTTACCGTGCAGCTGG	0.607000														70			17		0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134660720	134660720	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:134660720C>T	uc021qbc.1	-	41	6159	c.6058G>A	c.(6058-6060)Gag>Aag	p.E2020K		NM_001200049	NP_001186978	Q8IYW2	CJ092_HUMAN	Homo sapiens tetratricopeptide repeat domain 40 (TTC40), mRNA.	181										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CTGCAGTGCTCCTCCGGGGCT	0.697000														35			27		0	0	1	0	0
PWP2	5822	broad.mit.edu	37	21	45535577	45535577	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr21:45535577C>T	uc002zeb.3	+	6	702	c.612C>T	c.(610-612)taC>taT	p.Y204Y		NM_005049	NP_005040	Q15269	PWP2_HUMAN	Homo sapiens PWP2 periodic tryptophan protein homolog (yeast) (PWP2), mRNA.	204						cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		TGCAGCTGTACTCACTCAGCC	0.662000														82			45		0	0	1	0	0
PRRC2B	84726	broad.mit.edu	37	9	134350999	134350999	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:134350999C>T	uc004can.4	+	14	3538	c.3483C>T	c.(3481-3483)ctC>ctT	p.L1161L	PRRC2B_uc010mzj.1_Silent_p.L744L|PRRC2B_uc004cao.4_Silent_p.L519L	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	Homo sapiens proline-rich coiled-coil 2B (PRRC2B), mRNA.	1161							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						AAGGCTCGCTCCTGGAGAGGG	0.597000														16			5		0	0	1	0	0
AZI1	22994	broad.mit.edu	37	17	79173560	79173561	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:79173560_79173561GG>AA	uc002jzp.1	-	8	1181_1182	c.981_982CC>TT	c.(979-984)gcccgg>gcTTgg	p.R328W	AZI1_uc002jzm.1_5'Flank|AZI1_uc002jzn.1_Missense_Mutation_p.R328W|AZI1_uc002jzo.1_Missense_Mutation_p.R328W|AZI1_uc010wum.1_Missense_Mutation_p.R328W	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	Homo sapiens 5-azacytidine induced 1 (AZI1), transcript variant 1, mRNA.	328					G2/M transition of mitotic cell cycle|cell differentiation|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle		p.A327S(1)|p.A327fs*23(1)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TTCTCCTCCCGGGCCTTCCTCC	0.688000														63			62		0	0	1	0	0
ANXA10	11199	broad.mit.edu	37	4	169105801	169105801	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:169105801G>A	uc003irm.3	+	10	1039	c.875G>A	c.(874-876)cGa>cAa	p.R292Q	ANXA10_uc003irn.3_Missense_Mutation_p.R164Q	NM_007193	NP_009124	Q9UJ72	ANX10_HUMAN	Homo sapiens annexin A10 (ANXA10), mRNA.	292							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)		TACAAAGAGCGATATGGAAAA	0.353000														72			25		0	0	1	0	0
UGT2B11	10720	broad.mit.edu	37	4	70066197	70066197	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:70066197C>T	uc003heh.3	-	5	1560	c.1551G>A	c.(1549-1551)tgG>tgA	p.W517*	AK124272_uc003hei.1_Non-coding_Transcript	NM_001073	NP_001064	O75310	UDB11_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B11 (UGT2B11), mRNA.	517					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TAGCAAACTTCCAGAAACAAA	0.403000														39			25		0	0	1	0	0
RALGPS1	9649	broad.mit.edu	37	9	129831618	129831618	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:129831618C>T	uc004bqo.2	+	7	860	c.593C>T	c.(592-594)cCa>cTa	p.P198L	RALGPS1_uc022bno.1_Missense_Mutation_p.P198L|RALGPS1_uc011mab.2_Missense_Mutation_p.P198L|RALGPS1_uc011mac.2_Missense_Mutation_p.P198L|RALGPS1_uc004bqq.4_Missense_Mutation_p.P198L	NM_014636	NP_055451	Q5JS13	RGPS1_HUMAN	Homo sapiens Ral GEF with PH domain and SH3 binding motif 1 (RALGPS1), transcript variant 1, mRNA.	198	Ras-GEF.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						AAGATGGTTCCAAGTATTCCC	0.373000														49			19		0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44035263	44035263	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:44035263G>A	uc001cjr.3	+	5	722	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K	PTPRF_uc001cjq.4_Missense_Mutation_p.E128K|PTPRF_uc001cjs.3_Missense_Mutation_p.E128K|PTPRF_uc001cjt.4_Missense_Mutation_p.E128K	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	128					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GTCTGCAGAGGAACAGCTGCC	0.617000														72			14		0	0	1	0	0
HPX	3263	broad.mit.edu	37	11	6461429	6461429	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:6461429A>T	uc001mdg.2	-	3	363	c.302T>A	c.(301-303)tTc>tAc	p.F101Y	HPX_uc009yfc.2_Non-coding_Transcript|HPX_uc010rai.1_Missense_Mutation_p.F101Y	NM_000613	NP_000604	P02790	HEMO_HUMAN	Homo sapiens hemopexin (HPX), mRNA.	101	Hemopexin-like 2.				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		ACCTTGACGGAATGCAGCATC	0.527000														36			23		0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35647928	35647928	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:35647928C>T	uc003xjr.2	+	16	3037	c.2709C>T	c.(2707-2709)aaC>aaT	p.N903N	UNC5D_uc003xjs.2_Silent_p.N898N|UNC5D_uc003xju.2_Silent_p.N479N|UNC5D_uc022atw.1_5'Flank	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	903	Death.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TCATTTTGAACCTGTGGGAAG	0.423000														31			25		0	0	1	0	0
TNIK	23043	broad.mit.edu	37	3	170828502	170828502	+	Splice_Site	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:170828502C>T	uc003fhh.2	-	19	2629	c.2284_splice	c.e19+1	p.A762_splice	TNIK_uc003fhi.2_Splice_Site_p.A707_splice|TNIK_uc003fhj.2_Splice_Site_p.A733_splice|TNIK_uc003fhk.2_Splice_Site_p.A762_splice|TNIK_uc003fhl.2_Splice_Site_p.A678_splice|TNIK_uc003fhm.2_Splice_Site_p.A707_splice|TNIK_uc003fhn.2_Splice_Site_p.A733_splice|TNIK_uc003fho.2_Splice_Site_p.A678_splice	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.	762	Mediates interaction with NEDD4.				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)			GAAAGTTTTACCTCGAACTCT	0.547000														1			2		0	0	1	0	0
INF2	64423	broad.mit.edu	37	14	105180906	105180906	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:105180906C>T	uc001ypb.2	+	20	3550	c.3407C>T	c.(3406-3408)tCc>tTc	p.S1136F	INF2_uc001ypc.2_Missense_Mutation_p.S1136F|INF2_uc010awz.1_Non-coding_Transcript	NM_022489	NP_071934	Q27J81	INF2_HUMAN	Homo sapiens inverted formin, FH2 and WH2 domain containing (INF2), transcript variant 1, mRNA.	1136					actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	Rho GTPase binding|actin binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		GATCCCACGTCCTTGCTGGGC	0.652000														53			24		0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127728915	127728915	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:127728915G>A	uc003kuu.3	-	9	1817	c.1378C>T	c.(1378-1380)Ccc>Tcc	p.P460S	FBN2_uc003kuv.2_Missense_Mutation_p.P427S	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	460					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)		CCAGGGATGGGGATGAAGCCT	0.607000														65			40		0	0	1	0	0
DTWD1	56986	broad.mit.edu	37	15	49935604	49935604	+	Silent	SNP	T	G	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:49935604T>G	uc001zxq.3	+	5	1021	c.744T>G	c.(742-744)ctT>ctG	p.L248L	DTWD1_uc001zxs.3_Silent_p.L248L|DTWD1_uc001zxr.3_Silent_p.L161L	NM_020234	NP_064619	Q8N5C7	DTWD1_HUMAN	Homo sapiens DTW domain containing 1 (DTWD1), transcript variant 1, mRNA.	248										endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;0.0384)		all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05)		ATACTTTCCTTTCTACAATTG	0.303000														45			33		0	0	1	0	0
ZCCHC14	23174	broad.mit.edu	37	16	87451093	87451093	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:87451093G>A	uc002fjz.1	-	7	972	c.945C>T	c.(943-945)ccC>ccT	p.P315P	ZCCHC14_uc002fka.1_Non-coding_Transcript|ZCCHC14_uc002fkb.3_Silent_p.P91P	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	Homo sapiens zinc finger, CCHC domain containing 14 (ZCCHC14), mRNA.	315					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		GCTTAAAGACGGGGTAATACT	0.512000											OREG0024030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		80			36		0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169510360	169510360	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:169510360G>A	uc001ggg.1	-	12	4113	c.3968C>T	c.(3967-3969)cCa>cTa	p.P1323L		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	1323	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GCTGAGGTCTGGAGAAATGGG	0.522000														242			53		0	0	1	0	0
BCAS2	10286	broad.mit.edu	37	1	115118354	115118354	+	Silent	SNP	G	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:115118354G>T	uc001efa.3	-	3	329	c.276C>A	c.(274-276)ccC>ccA	p.P92P	DENND2C_uc001eez.3_Non-coding_Transcript	NM_005872	NP_005863	O75934	SPF27_HUMAN	Homo sapiens breast carcinoma amplified sequence 2 (BCAS2), mRNA.	92					RNA splicing, via transesterification reactions|mRNA processing	nucleolus|spliceosomal complex	protein binding			biliary_tract(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)	13	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GACCAGAGGAGGGGGCTGGAA	0.383000														29			14		1.5842e-08	1.60063e-08	1	1	0
ELAC2	60528	broad.mit.edu	37	17	12896263	12896263	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:12896263G>A	uc002gnz.4	-	23	2470	c.2353C>T	c.(2353-2355)Cgg>Tgg	p.R785W	ELAC2_uc002gnu.4_Missense_Mutation_p.R182W|ELAC2_uc002gnv.4_Missense_Mutation_p.R413W|ELAC2_uc002gnx.4_Missense_Mutation_p.R545W|ELAC2_uc010vvo.2_Missense_Mutation_p.R583W|ELAC2_uc010vvp.2_Missense_Mutation_p.R766W|ELAC2_uc010vvq.2_Missense_Mutation_p.R784W|ELAC2_uc010vvr.2_Missense_Mutation_p.R745W	NM_018127	NP_060597	Q9BQ52	RNZ2_HUMAN	Homo sapiens elaC homolog 2 (E. coli) (ELAC2), transcript variant 1, mRNA.	785					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						CGCAGCTCCCGCTTCTCCCTG	0.652000														47			12		0	0	1	0	0
GTF3C2	2976	broad.mit.edu	37	2	27566214	27566214	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:27566214G>A	uc002rju.1	-	1	638	c.241C>T	c.(241-243)Cct>Tct	p.P81S	GTF3C2_uc002rjv.1_Missense_Mutation_p.P70S|GTF3C2_uc002rjw.1_Missense_Mutation_p.P70S|GTF3C2_uc010eyz.2_Missense_Mutation_p.P70S	NM_001521	NP_001512	Q8WUA4	TF3C2_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 2, beta 110kDa (GTF3C2), transcript variant 1, mRNA.	70						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCTCTGGAGGGAGCCTCCTC	0.488000														105			40		0	0	1	0	0
BRPF1	7862	broad.mit.edu	37	3	9785284	9785284	+	Silent	SNP	C	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:9785284C>A	uc003bse.3	+	7	2715	c.2316C>A	c.(2314-2316)gtC>gtA	p.V772V	BRPF1_uc003bsf.3_Silent_p.V778V|BRPF1_uc003bsg.3_Silent_p.V771V|BRPF1_uc011ati.2_Silent_p.V772V	NM_004634	NP_004625	P55201	BRPF1_HUMAN	Homo sapiens bromodomain and PHD finger containing, 1 (BRPF1), transcript variant 2, mRNA.	772	Interaction with MEAF6 and ING5.|Required for RUNX1 and RUNX2 transcriptional activation.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|cytoplasm|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					AGCGGCTGGTCTTGCTGGAGA	0.607000														53			10		5.50884e-06	5.54527e-06	1	1	0
DOCK5	80005	broad.mit.edu	37	8	25132911	25132911	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:25132911C>T	uc003xeg.3	+	3	315	c.178C>T	c.(178-180)Cct>Tct	p.P60S	DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xef.3_Missense_Mutation_p.P60S	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	60	SH3.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GGGCATTTTCCCTGAAACATA	0.363000														17			7		0	0	1	0	0
OR2B2	81697	broad.mit.edu	37	6	27879911	27879911	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:27879911G>A	uc011dkw.2	-	0	264	c.187C>T	c.(187-189)Ctt>Ttt	p.L63F		NM_033057	NP_149046	Q9GZK3	OR2B2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 2 (OR2B2), mRNA.	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						AGATTGCTAAGAAAAAAGTAC	0.388000														41			6		0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58109091	58109091	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:58109091C>T	uc003djj.2	+	20	3563	c.3398C>T	c.(3397-3399)cCc>cTc	p.P1133L	FLNB_uc010hne.2_Missense_Mutation_p.P1133L|FLNB_uc003djk.2_Missense_Mutation_p.P1133L|FLNB_uc010hnf.2_Missense_Mutation_p.P1133L|FLNB_uc003djl.2_Missense_Mutation_p.P964L|FLNB_uc003djm.2_Missense_Mutation_p.P964L	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	1133	Interaction with FBLP1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCCTTTGACCCCTCTAAAGTC	0.582000														102			38		0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558185	140558185	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:140558185G>A	uc011dai.2	+	0	815	c.570G>A	c.(568-570)agG>agA	p.R190R	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	190	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGATGGCAGGAAATACCCAG	0.502000														56			9		0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	86940730	86940730	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:86940730C>T	uc002blz.1	+	16	2450	c.2370C>T	c.(2368-2370)atC>atT	p.I790I		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	790					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						AAAACTTCATCTTCAAGATCA	0.507000														73			19		0	0	1	0	0
CNR1	1268	broad.mit.edu	37	6	88854010	88854010	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:88854010C>T	uc010kbz.3	-	1	1114	c.984G>A	c.(982-984)caG>caA	p.Q328Q	CNR1_uc011dzr.2_Silent_p.Q328Q|CNR1_uc011dzs.2_Silent_p.Q328Q|CNR1_uc003pmq.4_Silent_p.Q328Q|CNR1_uc011dzt.2_Silent_p.Q328Q|CNR1_uc010kca.3_Silent_p.Q295Q|CNR1_uc021zco.1_Silent_p.Q328Q	NM_016083	NP_057167	P21554	CNR1_HUMAN	Homo sapiens cannabinoid receptor 1 (brain) (CNR1), transcript variant 1, mRNA.	328					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	GCCGGGTCACCTGTACCTTCC	0.567000														21			21		0	0	1	0	0
SYCP2	10388	broad.mit.edu	37	20	58475311	58475311	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:58475311G>A	uc002yaz.3	-	16	1425	c.1286C>T	c.(1285-1287)cCa>cTa	p.P429L	SYCP2_uc010gju.1_Missense_Mutation_p.P330L	NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA.	429					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TTCTCCGACTGGTGAGATTTG	0.343000														20			8		0	0	1	0	0
GPLD1	2822	broad.mit.edu	37	6	24475459	24475459	+	Splice_Site	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:24475459C>T	uc003ned.1	-	5	442	c.331_splice	c.e5-1	p.D111_splice	GPLD1_uc010jpr.1_Splice_Site|GPLD1_uc010jps.1_Splice_Site_p.D111_splice|GPLD1_uc003nee.3_Splice_Site_p.D111_splice	NM_001503	NP_001494	P80108	PHLD_HUMAN	Homo sapiens glycosylphosphatidylinositol specific phospholipase D1 (GPLD1), transcript variant 1, mRNA.	111						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						TTCTCTGTGTCCTGCCAAACA	0.368000														41			13		0	0	1	0	0
SLC6A3	6531	broad.mit.edu	37	5	1409191	1409191	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:1409191G>A	uc003jck.3	-	10	1574	c.1448C>T	c.(1447-1449)tCc>tTc	p.S483F		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	483					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	AAAGAGGATGGACGTGCCGGC	0.597000														21			5		0	0	1	0	0
ABL1	25	broad.mit.edu	37	9	133760588	133760588	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:133760588C>T	uc004bzw.3	+	10	2914	c.2911C>T	c.(2911-2913)Ccg>Tcg	p.P971S	ABL1_uc004bzv.3_Missense_Mutation_p.P990S	NM_005157	NP_005148	P00519	ABL1_HUMAN	Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA.	971	F-actin-binding.|Pro-rich.				DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|SH3 domain binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	GTCCGCCAAGCCGTCGGGGAC	0.672000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""									89			14		0	0	1	0	0
CSHL1	1444	broad.mit.edu	37	17	61987545	61987545	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:61987545C>T	uc002jda.1	-	3	510	c.448G>A	c.(448-450)Gaa>Aaa	p.E150K	CSHL1_uc002jcz.1_Missense_Mutation_p.E127K|CSHL1_uc002jdb.1_Missense_Mutation_p.E56K|CSHL1_uc002jdc.1_Missense_Mutation_p.E67K|CSHL1_uc002jdd.1_Missense_Mutation_p.E88K|CSHL1_uc021ubn.1_3'UTR	NM_022579	NP_001309	Q14406	CSHL_HUMAN	Homo sapiens chorionic somatomammotropin hormone-like 1 (CSHL1), transcript variant 1, mRNA.	150						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						TGGATGCCTTCCTCTAGGTCC	0.602000														72			23		0	0	1	0	0
AMBRA1	55626	broad.mit.edu	37	11	46567235	46567235	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:46567235G>A	uc001ncv.2	-	4	784	c.470C>T	c.(469-471)gCc>gTc	p.A157V	AMBRA1_uc010rgt.1_5'Flank|AMBRA1_uc009ylc.1_Missense_Mutation_p.A157V|AMBRA1_uc001ncu.1_Missense_Mutation_p.A157V|AMBRA1_uc010rgu.1_Missense_Mutation_p.A157V|AMBRA1_uc001ncw.2_Missense_Mutation_p.A157V|AMBRA1_uc001ncx.2_Missense_Mutation_p.A157V	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA.	157					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GATCTCATTGGCAGTGGCAAT	0.567000														50			14		0	0	1	0	0
PILRB	29990	broad.mit.edu	37	7	99956512	99956512	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:99956512C>T	uc022aim.1	+	6	1336	c.264C>T	c.(262-264)tcC>tcT	p.S88S	PILRB_uc003uum.1_Non-coding_Transcript|PILRB_uc003uun.3_Silent_p.S88S	NM_178238	NP_839956	Q9UKJ0	PILRB_HUMAN	Homo sapiens paired immunoglobin-like type 2 receptor beta (PILRB), transcript variant 3, mRNA.	88	Ig-like V-type.				activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGCCGCCTTCCATTCACAAGG	0.547000														120			14		0	0	1	0	0
CCDC70	83446	broad.mit.edu	37	13	52439468	52439468	+	Splice_Site	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr13:52439468G>A	uc001vfu.4	+	2	250	c.-46_splice	c.e2-1		CCDC70_uc021rjv.1_5'Flank	NM_031290	NP_112580	Q6NSX1	CCD70_HUMAN	Homo sapiens coiled-coil domain containing 70 (CCDC70), mRNA.							extracellular region|plasma membrane				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		GCCCCCACAGGGTCTGACCAG	0.532000														11			5		0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119382666	119382666	+	Silent	SNP	G	A	A	rs148013478		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:119382666G>A	uc004bjt.2	-	16	3077	c.2976C>T	c.(2974-2976)atC>atT	p.I992I	ASTN2_uc022bml.1_Silent_p.I688I|ASTN2_uc022bmm.1_Silent_p.I692I|ASTN2_uc004bjp.2_Silent_p.I144I|ASTN2_uc011lxr.2_Silent_p.I95I|ASTN2_uc011lxs.2_Silent_p.I95I|ASTN2_uc011lxt.2_Silent_p.I95I|ASTN2_uc004bjq.2_Silent_p.I95I|ASTN2_uc022bmn.1_Silent_p.I95I	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	1043						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						ACCAGTCATCGATCACATCCC	0.532000														62			66		0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75276987	75276987	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:75276987C>T	uc001xqj.4	+	8	5216	c.5092C>T	c.(5092-5094)Cgt>Tgt	p.R1698C	YLPM1_uc001xql.4_Non-coding_Transcript|YLPM1_uc001xqm.1_Missense_Mutation_p.R181C	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	1503					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TTATTTTGATCGTCAAAGTAA	0.393000														28			23		0	0	1	0	0
POTEG	404785	broad.mit.edu	37	14	19574200	19574200	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:19574200G>A	uc001vuz.1	+	8	1309	c.1257G>A	c.(1255-1257)atG>atA	p.M419I	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.	419								p.E418*(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AAGAAGAAATGAAGAAGCACG	0.358000														17			11		0	0	1	0	0
GABBR2	9568	broad.mit.edu	37	9	101156531	101156531	+	Missense_Mutation	SNP	C	T	T	rs146990467	byFrequency	TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:101156531C>T	uc004ays.3	-	8	1764	c.1304G>A	c.(1303-1305)aGg>aAg	p.R435K		NM_005458	NP_005449	O75899	GABR2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 2 (GABBR2), mRNA.	435					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	CTTCACCTCCCTGCTGTCTGT	0.562000														19			13		0	0	1	0	0
ALDOB	229	broad.mit.edu	37	9	104193153	104193154	+	Missense_Mutation	DNP	GG	AC	AC			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:104193153_104193154GG>AC	uc004bbk.2	-	1	98_99	c.16_17CC>GT	c.(16-18)cca>GTa	p.P6V		NM_000035	NP_000026	P05062	ALDOB_HUMAN	Homo sapiens aldolase B, fructose-bisphosphate (ALDOB), mRNA.	6					NADH oxidation|fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				GGTGAGGGCTGGAAATCGGTGG	0.540000														23			5		0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77623762	77623762	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:77623762G>A	uc011bgk.2	+	14	2739	c.2096G>A	c.(2095-2097)cGa>cAa	p.R699Q	ROBO2_uc021xat.1_Missense_Mutation_p.R711Q|ROBO2_uc003dpy.4_Missense_Mutation_p.R695Q|ROBO2_uc003dpz.3_Missense_Mutation_p.R699Q|ROBO2_uc011bgj.2_Non-coding_Transcript	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	695	Fibronectin type-III 2.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.R695Q(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CCGACTGAACGAAGTGCTGTC	0.443000														32			22		0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2020537	2020537	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:2020537G>A	uc003wpx.4	+	8	1044	c.906G>A	c.(904-906)ctG>ctA	p.L302L	MYOM2_uc011kwi.2_Intron	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	302	Ig-like C2-type 2.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GCACCATGCTGGTGACGCCGG	0.617000														35			11		0	0	1	0	0
C1orf210	149466	broad.mit.edu	37	1	43748474	43748474	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:43748474C>T	uc001cit.4	-	2	558	c.324G>A	c.(322-324)agG>agA	p.R108R	C1orf210_uc021omn.1_Silent_p.R108R	NM_182517	NP_872323	Q8IVY1	CA210_HUMAN	Homo sapiens chromosome 1 open reading frame 210 (C1orf210), transcript variant 1, mRNA.	108						integral to membrane				breast(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGAAGTGGTCCCTGCTACCCT	0.572000														26			35		0	0	1	0	0
KCND1	3750	broad.mit.edu	37	X	48826246	48826246	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:48826246C>T	uc004dlx.1	-	0	2006	c.433G>A	c.(433-435)Gag>Aag	p.E145K	KCND1_uc004dlw.1_5'Flank	NM_004979	NP_004970	Q9NSA2	KCND1_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 1 (KCND1), mRNA.	145						voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity	p.A144V(1)		endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24						GCCAGGCGCTCGGCATTCTCC	0.657000														18			6		0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28654776	28654776	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr18:28654776G>A	uc002kwl.4	-	11	2215	c.1761C>T	c.(1759-1761)ccC>ccT	p.P587P	DSC2_uc002kwk.4_Silent_p.P587P	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	587	Cadherin 5.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			ATGACATGGTGGGTTTGCAGA	0.463000														9			16		0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52549467	52549467	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:52549467G>A	uc003dej.3	+	36	3967	c.3893G>A	c.(3892-3894)cGa>cAa	p.R1298Q		NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	1298					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TGTGTCTACCGATCTGGCTTC	0.612000														40			16		0	0	1	0	0
CRYBB2P1	1416	broad.mit.edu	37	22	25853291	25853291	+	RNA	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:25853291C>T	uc003abt.3	+	3		c.512C>T			CRYBB2P1_uc003abu.3_Non-coding_Transcript|CRYBB2P1_uc003abv.3_Non-coding_Transcript					Homo sapiens crystallin, beta B2 pseudogene 1 (CRYBB2P1), transcript variant 1, non-coding RNA.																		AGATGGAAATCATAGATGACG	0.532000														5			6		0	0	1	0	0
DLK1	8788	broad.mit.edu	37	14	101201053	101201053	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:101201053C>T	uc001yhs.4	+	4	1176	c.972C>T	c.(970-972)atC>atT	p.I324I	DLK1_uc001yhu.4_Silent_p.I251I|DLK1_uc021sbs.1_Silent_p.I36I	NM_003836	NP_003827	P80370	DLK1_HUMAN	Homo sapiens delta-like 1 homolog (Drosophila) (DLK1), mRNA.	324					multicellular organismal development	extracellular space|integral to membrane|soluble fraction				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				CTGTGGGTATCGTCTTCCTCA	0.587000														49			21		0	0	1	0	0
GOLGA8E	390535	broad.mit.edu	37	15	23443526	23443526	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:23443526G>A	uc001yvu.3	+	12	1627	c.612G>A	c.(610-612)caG>caA	p.Q204Q	JA429730_uc021sfs.1_5'Flank					Homo sapiens golgin A8 family, member E (GOLGA8E), non-coding RNA.											endometrium(1)|kidney(1)|lung(3)|skin(1)	6		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;5.21e-07)|Epithelial(43;5.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.000614)		CCAGCCAGCAGAAACAGCAGC	0.637000														15			10		0	0	1	0	0
PLAT	5327	broad.mit.edu	37	8	42050647	42050647	+	Silent	SNP	G	A	A	rs141964626		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:42050647G>A	uc003xos.2	-	1	266	c.57C>T	c.(55-57)ttC>ttT	p.F19F	PLAT_uc010lxf.1_Silent_p.F19F|PLAT_uc010lxg.1_Silent_p.F19F|PLAT_uc003xot.2_Silent_p.F19F|PLAT_uc011lcm.1_Silent_p.F19F|PLAT_uc011lcn.1_Silent_p.F19F	NM_000930	NP_000921	P00750	TPA_HUMAN	Homo sapiens plasminogen activator, tissue (PLAT), transcript variant 1, mRNA.	19					blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TGGGCGAAACGAAGACTGCTC	0.567000														33			8		0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	67802121	67802121	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr13:67802121A>T	uc001vik.3	-	1	1144	c.452T>A	c.(451-453)aTt>aAt	p.I151N	PCDH9_uc001vil.3_Missense_Mutation_p.I151N|PCDH9_uc010thl.2_Missense_Mutation_p.I151N|PCDH9_uc001vin.3_Missense_Mutation_p.I151N	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	Homo sapiens protocadherin 9 (PCDH9), transcript variant 1, mRNA.	151	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GTTTTCTGGAATGGAAATATT	0.393000														60			33		0	0	1	0	0
FKBP10	60681	broad.mit.edu	37	17	39978594	39978594	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:39978594G>A	uc002hxv.2	+	9	2008	c.1683G>A	c.(1681-1683)aaG>aaA	p.K561K	FKBP10_uc002hxw.1_Silent_p.K325K	NM_021939	NP_068758	Q96AY3	FKB10_HUMAN	Homo sapiens FK506 binding protein 10, 65 kDa (FKBP10), mRNA.	561	EF-hand 2.				protein folding	endoplasmic reticulum lumen|membrane	FK506 binding|calcium ion binding|peptidyl-prolyl cis-trans isomerase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		AGGACGGCAAGATCACAGTCG	0.597000														17			19		0	0	1	0	0
TNFRSF21	27242	broad.mit.edu	37	6	47253976	47253976	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:47253976G>A	uc003oyv.3	-	1	885	c.452C>T	c.(451-453)cCt>cTt	p.P151L		NM_014452	NP_055267	O75509	TNR21_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 21 (TNFRSF21), mRNA.	151					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)			CCAACCCACAGGACACACCGT	0.542000														103			29		0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154157375	154157375	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:154157375G>A	uc004fmt.3	-	13	4861	c.4690C>T	c.(4690-4692)Ccc>Tcc	p.P1564S		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	1564	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	p.P1564S(3)		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)	CTCAGAAAGGGAACTTTTCCA	0.483000														39			129		0	0	1	0	0
OR10K2	391107	broad.mit.edu	37	1	158390148	158390148	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:158390148G>A	uc010pii.2	-	0	509	c.509C>T	c.(508-510)tCc>tTc	p.S170F		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 2 (OR10K2), mRNA.	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S170F(2)		NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					TTGATTGGAGGAATAAAAAGG	0.473000														68			10		0	0	1	0	0
SCRIB	23513	broad.mit.edu	37	8	144885708	144885708	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:144885708G>A	uc003yzp.1	-	23	3455	c.3448C>T	c.(3448-3450)Cgg>Tgg	p.R1150W	SCRIB_uc003yzn.1_5'UTR|SCRIB_uc003yzo.1_Missense_Mutation_p.R1150W	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	Homo sapiens scribbled homolog (Drosophila) (SCRIB), transcript variant 2, mRNA.	1150	Interaction with ARHGEF7.|PDZ 4.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	Scrib-APC-beta-catenin complex|cell-cell adherens junction	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			ACACGCAGCCGACCGTCGCGC	0.726000														18			12		0	0	1	0	0
FAM123C	205147	broad.mit.edu	37	2	131522018	131522018	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:131522018G>A	uc021voy.1	+	0	2373	c.2373G>A	c.(2371-2373)ctG>ctA	p.L791L	FAM123C_uc002trw.2_Silent_p.L791L|FAM123C_uc010fmv.2_Silent_p.L791L|FAM123C_uc010fms.1_Silent_p.L791L|FAM123C_uc010fmt.1_Silent_p.L791L|FAM123C_uc010fmu.1_Silent_p.L791L	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	791										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		GCAGCCAGCTGGACTCTGAGC	0.677000														5			3		0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118284365	118284365	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:118284365C>T	uc004era.4	-	0	178	c.178G>A	c.(178-180)Gga>Aga	p.G60R		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	60										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TTGGTGCTTCCCTCCTTCTTG	0.582000														16			7		0	0	1	0	0
HOXD10	3236	broad.mit.edu	37	2	176981827	176981827	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:176981827G>A	uc002ukj.3	+	0	336	c.266G>A	c.(265-267)cGa>cAa	p.R89Q		NM_002148	NP_002139	P28358	HXD10_HUMAN	Homo sapiens homeobox D10 (HOXD10), mRNA.	89						nucleus	sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		AGATCTTGTCGAATAGAGCAA	0.428000														33			13		0	0	1	0	0
SLC1A6	6511	broad.mit.edu	37	19	15073051	15073052	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:15073051_15073052CC>TT	uc002naa.1	-	4	704_705	c.697_698GG>AA	c.(697-699)gga>AAa	p.G233K	SLC1A6_uc010dzu.1_Missense_Mutation_p.G233K|SLC1A6_uc010xod.1_Missense_Mutation_p.G169K|SLC1A6_uc002nab.3_Missense_Mutation_p.G233K|SLC1A6_uc002nac.3_Missense_Mutation_p.G233K	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	233					synaptic transmission	integral to plasma membrane|membrane fraction	L-aspartate transmembrane transporter activity|high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	GAAGCTGGTTCCGTTCTCCACT	0.594000														46			21		0	0	1	0	0
WNT7A	7476	broad.mit.edu	37	3	13916465	13916465	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:13916465A>G	uc003bye.1	-	1	582	c.277T>C	c.(277-279)Ttc>Ctc	p.F93L		NM_004625	NP_004616	O00755	WNT7A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 7A (WNT7A), mRNA.	93					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						TCCTTCCCGAAGACGGTGCGC	0.577000														23			5		0	0	1	0	0
OR13F1	138805	broad.mit.edu	37	9	107266630	107266630	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:107266630G>A	uc011lvm.2	+	0	87	c.87G>A	c.(85-87)gcG>gcA	p.A29A		NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily F, member 1 (OR13F1), mRNA.	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A29A(2)		endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TCATATTTGCGGTGTGCTTGC	0.423000														49			43		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140229903	140229903	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:140229903C>T	uc003lhu.2	+	0	2547	c.1823C>T	c.(1822-1824)tCa>tTa	p.S608L	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_uc003lht.1_Missense_Mutation_p.S608L	NM_031857	NP_114063	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA.	621	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)			GCGTGGCTTTCATACGAGCTG	0.677000														86			19		0	0	1	0	0
CLVS1	157807	broad.mit.edu	37	8	62212631	62212631	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:62212631C>T	uc003xuh.3	+	1	569	c.245C>T	c.(244-246)gCc>gTc	p.A82V	CLVS1_uc003xug.2_Missense_Mutation_p.A82V|CLVS1_uc003xui.3_Intron	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	Homo sapiens clavesin 1 (CLVS1), mRNA.	82					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	p.R81*(1)		endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TTTCTCCGAGCCAGGAAGTTT	0.458000														25			15		0	0	1	0	0
IL20RB	53833	broad.mit.edu	37	3	136729059	136729059	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:136729059C>T	uc003eri.2	+	6	1179	c.930C>T	c.(928-930)atC>atT	p.I310I	IL20RB_uc003erj.2_Non-coding_Transcript|IL20RB_uc010hud.2_Silent_p.I168I|AX746877_uc003erk.1_5'Flank	NM_144717	NP_653318	Q6UXL0	I20RB_HUMAN	Homo sapiens interleukin 20 receptor beta (IL20RB), mRNA.	310						integral to membrane	receptor activity			kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						GGGCCTGGATCTCATAGGTTT	0.547000														38			16		0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53854211	53854211	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:53854211C>T	uc010ydv.1	+	3	400	c.283C>T	c.(283-285)Cat>Tat	p.H95Y	ZNF845_uc010ydw.1_Missense_Mutation_p.H95Y	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	95					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						GAAAGATATTCATGATTTTGA	0.403000														46			23		0	0	1	0	0
RORC	6097	broad.mit.edu	37	1	151785433	151785433	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:151785433G>A	uc001ezh.3	-	8	1383	c.1275C>T	c.(1273-1275)ctC>ctT	p.L425L	RORC_uc001ezg.3_Silent_p.L404L|RORC_uc010pdo.2_Silent_p.L479L|RORC_uc010pdp.2_Silent_p.L413L	NM_005060	NP_005051	P51449	RORG_HUMAN	Homo sapiens RAR-related orphan receptor C (RORC), transcript variant 1, mRNA.	425	Ligand-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGGCATTGATGAGAACAAGGG	0.512000														19			15		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23894098	23894098	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:23894098C>T	uc001wjx.3	-	21	2665	c.2559G>A	c.(2557-2559)aaG>aaA	p.K853K		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	853					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGAACTCCTCCTTCATGGAGG	0.552000														44			19		0	0	1	0	0
NINL	22981	broad.mit.edu	37	20	25457027	25457027	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:25457027G>A	uc002wux.1	-	16	2974	c.2900C>T	c.(2899-2901)tCg>tTg	p.S967L	NINL_uc010gdn.1_Intron	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	Homo sapiens ninein-like (NINL), mRNA.	967					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	p.S967L(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TCCCCTGCACGAAGCGGCCGG	0.687000														10			9		0	0	1	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64520808	64520808	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:64520808C>T	uc003jtp.3	-	16	2948	c.2134G>A	c.(2134-2136)Gac>Aac	p.D712N	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_Missense_Mutation_p.D333N	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	712				D -> G (in Ref. 1; AAD56357).	proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		GTGCTTCCGTCCCCTCCACAG	0.468000														26			5		0	0	1	0	0
PELI2	57161	broad.mit.edu	37	14	56757077	56757077	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:56757077C>T	uc001xch.3	+	4	885	c.599C>T	c.(598-600)aCc>aTc	p.T200I		NM_021255	NP_067078	Q9HAT8	PELI2_HUMAN	Homo sapiens pellino homolog 2 (Drosophila) (PELI2), mRNA.	200					MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						GGGGGCTTCACCGAGGAGTCC	0.592000														72			34		0	0	1	0	0
MGAT5B	146664	broad.mit.edu	37	17	74936623	74936623	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:74936623C>T	uc002jti.3	+	11	1854	c.1751C>T	c.(1750-1752)tCc>tTc	p.S584F	MGAT5B_uc002jth.3_Missense_Mutation_p.S573F	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B (MGAT5B), transcript variant 2, mRNA.	575						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding	p.E584D(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAGCCCACCTCCAGAGAGGTG	0.627000														90			21		0	0	1	0	0
TPTE2	93492	broad.mit.edu	37	13	20048155	20048155	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr13:20048155G>A	uc001umd.3	-	6	502	c.291C>T	c.(289-291)ttC>ttT	p.F97F	TPTE2_uc009zzk.3_Intron|TPTE2_uc009zzl.3_Intron|TPTE2_uc001ume.3_Silent_p.F60F|TPTE2_uc009zzm.3_5'UTR|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.	97						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)		TGCTGTCAGTGAAAATTAGGT	0.303000														36			11		0	0	1	0	0
BLNK	29760	broad.mit.edu	37	10	97983714	97983714	+	Silent	SNP	G	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:97983714G>T	uc001kls.4	-	5	571	c.393C>A	c.(391-393)ccC>ccA	p.P131P	BLNK_uc001kme.4_Silent_p.P49P|BLNK_uc001klt.4_Silent_p.P45P|BLNK_uc009xvc.3_Intron|BLNK_uc001klu.4_Silent_p.P49P|BLNK_uc001klv.4_Intron|BLNK_uc001klw.4_Non-coding_Transcript|BLNK_uc001klx.4_Silent_p.P131P|BLNK_uc001kly.4_Silent_p.P131P|BLNK_uc001klz.4_Intron|BLNK_uc001kma.4_Silent_p.P131P|BLNK_uc001kmb.4_Intron|BLNK_uc001kmc.4_Non-coding_Transcript|BLNK_uc001kmd.4_Silent_p.P49P|BLNK_uc009xvd.3_Intron	NM_013314	NP_037446	Q8WV28	BLNK_HUMAN	Homo sapiens B-cell linker (BLNK), transcript variant 1, mRNA.	131	Pro-rich.				B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		TCTTGCTGAAGGGTGGGGAAT	0.507000														54			14		1.99824e-07	2.01478e-07	1	1	0
SIGLEC10	89790	broad.mit.edu	37	19	51919293	51919293	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:51919293G>T	uc002pwo.3	-	4	1105	c.883C>A	c.(883-885)Ctc>Atc	p.L295I	SIGLEC10_uc002pwp.3_Missense_Mutation_p.L237I|SIGLEC10_uc021uyl.1_Missense_Mutation_p.L212I|SIGLEC10_uc002pwq.3_Missense_Mutation_p.L237I|SIGLEC10_uc010ycz.2_Missense_Mutation_p.L247I|SIGLEC10_uc002pws.2_Intron|SIGLEC10_uc002pwr.3_Missense_Mutation_p.L295I|SIGLEC10_uc010ycy.2_Intron|SIGLEC10_uc010eow.3_Missense_Mutation_p.L107I|LOC100129083_uc021uym.1_Non-coding_Transcript	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 1, mRNA.	295	Ig-like C2-type 2.				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)		GACGAGGAGAGGACTCTGTTC	0.657000														12			6		0.0215528	0.0215705	1	1	0
COL5A3	50509	broad.mit.edu	37	19	10071469	10071469	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:10071469G>A	uc002mmq.1	-	65	5035	c.4949C>T	c.(4948-4950)tCc>tTc	p.S1650F		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	1650	Fibrillar collagen NC1.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	p.Y1649*(1)		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)			ATTCTGGCAGGAGTAGGTGAA	0.592000														38			20		0	0	1	0	0
C15orf44	81556	broad.mit.edu	37	15	65892171	65892171	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:65892171G>A	uc010uix.2	-	3	923	c.535C>T	c.(535-537)Cca>Tca	p.P179S	C15orf44_uc002apd.3_Missense_Mutation_p.P143S|C15orf44_uc010uja.2_Missense_Mutation_p.P126S|C15orf44_uc010ujb.2_Missense_Mutation_p.P86S|C15orf44_uc002ape.4_Missense_Mutation_p.P143S|C15orf44_uc010uiy.2_Missense_Mutation_p.P64S|C15orf44_uc010uiz.2_Missense_Mutation_p.P107S|C15orf44_uc010ujc.2_Missense_Mutation_p.P175S			Q96SY0	CO044_HUMAN	Homo sapiens chromosome 15 open reading frame 44 (C15orf44), transcript variant 3, non-coding RNA.	143	VWFA.									breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						AAAGGTAGTGGAAACCTGTTG	0.433000														49			11		0	0	1	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303337	151303337	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:151303337C>T	uc022cgz.1	-	0	756	c.756G>A	c.(754-756)atG>atA	p.M252I	MAGEA5_uc022cgy.1_Intron|MAGEA10_uc004ffk.3_Missense_Mutation_p.M252I|MAGEA10_uc004ffm.2_Missense_Mutation_p.M252I|MAGEA10_uc004ffl.3_Missense_Mutation_p.M252I	NM_021048	NP_066386	P43363	MAGAA_HUMAN	Homo sapiens melanoma antigen family A, 10 (MAGEA10), transcript variant 2, mRNA.	252	MAGE.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					ACAGCCCCATCATATTCAGTG	0.522000														33			51		0	0	1	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090225	238090225	+	RNA	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:238090225C>T	uc010pyc.2	+	11		c.1731C>T								Homo sapiens POTE ankyrin domain family, member F pseudogene (LOC100130331), non-coding RNA.																		GCTGTGTTTCCCTCCATCATT	0.597000														6			5		0	0	1	0	0
MOV10L1	54456	broad.mit.edu	37	22	50553569	50553569	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:50553569G>A	uc003bjj.3	+	7	1236	c.1153G>A	c.(1153-1155)Gga>Aga	p.G385R	MOV10L1_uc003bjk.4_Missense_Mutation_p.G385R|MOV10L1_uc011arp.2_Missense_Mutation_p.G365R|MOV10L1_uc011arq.1_Missense_Mutation_p.G146R|MOV10L1_uc010hao.1_Non-coding_Transcript	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	385					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		AGGAGAAAATGGAGAAAAAGA	0.423000														168			28		0	0	1	0	0
CES2	8824	broad.mit.edu	37	16	66972137	66972137	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:66972137C>T	uc002eqr.3	+	1	1466	c.466C>T	c.(466-468)Ccg>Tcg	p.P156S	CES2_uc002eqq.3_Missense_Mutation_p.P156S|CES2_uc002eqs.3_5'UTR	NM_003869	NP_003860	O00748	EST2_HUMAN	Homo sapiens carboxylesterase 2 (CES2), transcript variant 1, mRNA.	92					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)		AACCACCCATCCGGCCATGTA	0.592000														20			8		0	0	1	0	0
CTDSPL2	51496	broad.mit.edu	37	15	44806847	44806847	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:44806847C>T	uc001ztr.3	+	8	1437	c.1021C>T	c.(1021-1023)Cag>Tag	p.Q341*	CTDSPL2_uc001zts.3_Nonsense_Mutation_p.Q341*|CTDSPL2_uc001ztt.3_Nonsense_Mutation_p.Q341*|CTDSPL2_uc010bdv.3_Nonsense_Mutation_p.Q269*	NM_016396	NP_057480	Q05D32	CTSL2_HUMAN	Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2 (CTDSPL2), mRNA.	341	FCP1 homology.						phosphoprotein phosphatase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		ACGAATGTCTCAGATGTATGA	0.289000														53			15		0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70667669	70667669	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:70667669C>T	uc003xyl.3	-	3	1955	c.1248G>A	c.(1246-1248)aaG>aaA	p.K416K	SLCO5A1_uc010lzb.3_Silent_p.K416K|SLCO5A1_uc011lfa.2_Intron|SLCO5A1_uc003xyk.3_Silent_p.K416K|SLCO5A1_uc010lzc.2_Silent_p.K416K	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	416						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CTCTGACATCCTTTCCAAATC	0.418000														24			7		0	0	1	0	0
SEMA3A	10371	broad.mit.edu	37	7	83643665	83643665	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:83643665G>A	uc003uhz.3	-	6	985	c.670C>T	c.(670-672)Cca>Tca	p.P224S		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A (SEMA3A), mRNA.	224	Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						ATGAACTTTGGATCTGAGAGA	0.323000														21			17		0	0	1	0	0
SLC9A5	6553	broad.mit.edu	37	16	67289062	67289062	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:67289062C>T	uc002esm.3	+	2	692	c.629C>T	c.(628-630)tCc>tTc	p.S210F	SLC9A5_uc010cee.3_5'UTR|SLC9A5_uc010vji.2_5'UTR	NM_004594	NP_004585	Q14940	SL9A5_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 5 (SLC9A5), mRNA.	210					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		TTTGGCGAGTCCCTGCTCAAC	0.587000														17			38		0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11298537	11298537	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:11298537G>A	uc001asd.3	-	11	2045	c.1924C>T	c.(1924-1926)Cat>Tat	p.H642Y		NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	642					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						CTAACCACATGAGCATGGCCA	0.562000														66			14		0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58206708	58206708	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr13:58206708C>T	uc001vhq.1	+	0	920	c.28C>T	c.(28-30)Ctt>Ttt	p.L10F	PCDH17_uc010aec.1_Missense_Mutation_p.L10F	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	10					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TTGCTGCTTTCTTCTATGGGC	0.622000														14			11		0	0	1	0	0
SVIL	6840	broad.mit.edu	37	10	29773697	29773697	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:29773697G>A	uc001iut.1	-	26	5596	c.4843C>T	c.(4843-4845)Caa>Taa	p.Q1615*	LOC387647_uc001iup.3_Non-coding_Transcript|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Nonsense_Mutation_p.Q529*|SVIL_uc001iuu.1_Nonsense_Mutation_p.Q1189*|SVIL_uc009xlc.2_Nonsense_Mutation_p.Q407*	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	1615	Interaction with NEB.				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				ATTTTTCGTTGTGCTAATGTG	0.408000														12			8		0	0	1	0	0
SACM1L	22908	broad.mit.edu	37	3	45776851	45776851	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:45776851C>T	uc003cos.2	+	13	1429	c.1225C>T	c.(1225-1227)Cag>Tag	p.Q409*	SACM1L_uc011bag.1_Nonsense_Mutation_p.Q306*|SACM1L_uc011bah.1_Nonsense_Mutation_p.Q343*|SACM1L_uc003cot.2_Nonsense_Mutation_p.Q52*	NM_014016	NP_054735	Q9NTJ5	SAC1_HUMAN	Homo sapiens SAC1 suppressor of actin mutations 1-like (yeast) (SACM1L), mRNA.	409	SAC.					Golgi apparatus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		TCGTTCACTTCAGGCCCAACT	0.388000														57			14		0	0	1	0	0
COX4I2	84701	broad.mit.edu	37	20	30227868	30227868	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:30227868G>A	uc002wwj.1	+	2	290	c.215G>A	c.(214-216)tGg>tAg	p.W72*		NM_032609	NP_115998	Q96KJ9	COX42_HUMAN	Homo sapiens cytochrome c oxidase subunit IV isoform 2 (lung) (COX4I2), nuclear gene encoding mitochondrial protein, mRNA.	72					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)			AAGGGAAGCTGGACCCAGCTG	0.592000														20			13		0	0	1	0	0
PCDHB10	56126	broad.mit.edu	37	5	140574249	140574249	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:140574249C>T	uc003lix.3	+	0	2298	c.2124C>T	c.(2122-2124)ctC>ctT	p.L708L		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	708					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTCGGTGCTCCTGTTCGTGG	0.697000														94			52		0	0	1	0	0
SNAI1	6615	broad.mit.edu	37	20	48600845	48600845	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:48600845C>G	uc002xuz.3	+	1	651	c.567C>G	c.(565-567)ttC>ttG	p.F189L		NM_005985	NP_005976	O95863	SNAI1_HUMAN	Homo sapiens snail homolog 1 (Drosophila) (SNAI1), mRNA.	189					epithelial to mesenchymal transition|mesoderm formation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|zinc ion binding	p.A188S(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)	17			BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			GGAAGGCCTTCTCTAGGCCCT	0.607000														11			5		0	0	1	0	0
C15orf55	256646	broad.mit.edu	37	15	34640749	34640749	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:34640749C>T	uc010ucc.2	+	2	1062	c.680C>T	c.(679-681)tCc>tTc	p.S227F	C15orf55_uc010ucd.2_Missense_Mutation_p.S217F|C15orf55_uc001zif.3_Missense_Mutation_p.S199F	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.	199						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	large_intestine(2)|ovary(3)|skin(2)	7		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		TCCAAGCCTTCCCTAGGTGAC	0.567000			T	"""BRD3, BRD4"""	lethal midline carcinoma									48			10		0	0	1	0	0
ITGB6	3694	broad.mit.edu	37	2	161029190	161029190	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:161029190C>T	uc002ubh.2	-	5	826	c.811G>A	c.(811-813)Gat>Aat	p.D271N	ITGB6_uc010fow.1_Non-coding_Transcript|ITGB6_uc010fou.2_Missense_Mutation_p.D271N|ITGB6_uc010zcq.1_Missense_Mutation_p.D229N|ITGB6_uc010fov.1_Missense_Mutation_p.D271N	NM_000888	NP_000879	P18564	ITB6_HUMAN	Homo sapiens integrin, beta 6 (ITGB6), mRNA.	271	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						GAATCAGCATCACTCACAAAG	0.463000														71			24		0	0	1	0	0
SPATA16	83893	broad.mit.edu	37	3	172607438	172607438	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:172607438G>A	uc003fin.4	-	10	1816	c.1632C>T	c.(1630-1632)ttC>ttT	p.F544F		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	Homo sapiens spermatogenesis associated 16 (SPATA16), mRNA.	544					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)			TAGTTTTTAAGAAACTGTCCT	0.358000														46			19		0	0	1	0	0
TLR2	7097	broad.mit.edu	37	4	154626295	154626295	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:154626295C>T	uc003inq.3	+	2	2455	c.2236C>T	c.(2236-2238)Ccc>Tcc	p.P746S	TLR2_uc003inr.3_Missense_Mutation_p.P746S|TLR2_uc003ins.3_Missense_Mutation_p.P746S|TLR2_uc021xtl.1_Missense_Mutation_p.P746S	NM_003264	NP_003255	O60603	TLR2_HUMAN	Homo sapiens toll-like receptor 2 (TLR2), mRNA.	746	TIR.				I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|induction of apoptosis|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of Wnt receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	Toll-like receptor 1-Toll-like receptor 2 protein complex|cytoplasm|integral to plasma membrane	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				AAAAGCCATTCCCCAGCGCTT	0.488000														62			24		0	0	1	0	0
SPATA16	83893	broad.mit.edu	37	3	172766857	172766857	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:172766857C>T	uc003fin.4	-	2	824	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	Homo sapiens spermatogenesis associated 16 (SPATA16), mRNA.	214					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)			TCAAATGGTTCTCCCAGAACT	0.353000														24			6		0	0	1	0	0
ANP32A	8125	broad.mit.edu	37	15	69079845	69079845	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:69079845C>T	uc002arl.3	-	2	405	c.234G>A	c.(232-234)ggG>ggA	p.G78G		NM_006305	NP_006296	P39687	AN32A_HUMAN	Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member A (ANP32A), mRNA.	78					intracellular signal transduction|mRNA metabolic process|nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm	protein binding			endometrium(1)|large_intestine(1)|lung(2)	4						CTTCCAGGCCCCCTGAGACTC	0.453000														45			38		0	0	1	0	0
CLASP2	23122	broad.mit.edu	37	3	33602313	33602313	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:33602313G>A	uc021wvc.1	-	27	3152	c.2941C>T	c.(2941-2943)Ctt>Ttt	p.L981F	CLASP2_uc003cfs.3_Missense_Mutation_p.L180F|CLASP2_uc021wva.1_Missense_Mutation_p.L55F|CLASP2_uc021wvb.1_Missense_Mutation_p.L760F|CLASP2_uc011axt.1_Missense_Mutation_p.L573F	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN	Homo sapiens cytoplasmic linker associated protein 2 (CLASP2), transcript variant 1, mRNA.	982										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						GTAACATCAAGGGCTTTCTGA	0.348000														74			28		0	0	1	0	0
STX6	10228	broad.mit.edu	37	1	180959154	180959154	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:180959154G>T	uc021pfr.1	-	4	692	c.455C>A	c.(454-456)tCt>tAt	p.S152Y	STX6_uc010pnr.2_Missense_Mutation_p.S51Y	NM_005819	NP_005810	O43752	STX6_HUMAN	Homo sapiens syntaxin 6 (STX6), mRNA.	152					Golgi vesicle transport|intracellular protein transport|vesicle fusion	clathrin-coated vesicle|early endosome|integral to membrane|perinuclear region of cytoplasm|plasma membrane|trans-Golgi network membrane	SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	10						AATGAAATGAGAATTGGCTCT	0.557000														75			29		3.73148e-12	3.78117e-12	1	1	0
UTS2	10911	broad.mit.edu	37	1	7907921	7907921	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:7907921C>T	uc001aos.3	-	4	399	c.325G>A	c.(325-327)Gat>Aat	p.D109N	UTS2_uc001aoq.3_Missense_Mutation_p.D94N|UTS2_uc001aor.3_Missense_Mutation_p.D94N	NM_021995	NP_068835	O95399	UTS2_HUMAN	Homo sapiens urotensin 2 (UTS2), transcript variant 1, mRNA.	94					muscle contraction|regulation of blood pressure|synaptic transmission	extracellular space	hormone activity			kidney(1)|lung(4)|urinary_tract(1)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;1.38e-20)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;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;0.0228)|all cancers(8;9.26e-71)|GBM - Glioblastoma multiforme(8;5.15e-36)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000386)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|STAD - Stomach adenocarcinoma(132;0.000951)|READ - Rectum adenocarcinoma(331;0.0642)		ATGTTAGGATCTTGTCCAGAG	0.368000														39			28		0	0	1	0	0
SGIP1	84251	broad.mit.edu	37	1	67109305	67109306	+	Missense_Mutation	DNP	TT	AA	AA			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:67109305_67109306TT>AA	uc001dcr.3	+	6	579_580	c.362_363TT>AA	c.(361-363)att>aAA	p.I121K	SGIP1_uc010opd.2_5'UTR|SGIP1_uc001dcs.3_5'UTR|SGIP1_uc001dct.3_5'UTR	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	Homo sapiens SH3-domain GRB2-like (endophilin) interacting protein 1 (SGIP1), mRNA.	121					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	SH3 domain binding|microtubule binding|phospholipid binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						AATATCAAGATTAAACCATTGC	0.356000														45			40		0	0	1	0	0
BANK1	55024	broad.mit.edu	37	4	102984267	102984267	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:102984267G>A	uc003hvy.4	+	12	2458	c.2184G>A	c.(2182-2184)ggG>ggA	p.G728G	BANK1_uc003hvx.4_Silent_p.G713G|BANK1_uc010ill.3_Silent_p.G595G|BANK1_uc003hvz.4_Silent_p.G698G	NM_017935	NP_001077376	Q8NDB2	BANK1_HUMAN	Homo sapiens B-cell scaffold protein with ankyrin repeats 1 (BANK1), transcript variant 1, mRNA.	728					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)		GCATTATTGGGAAAAGGCCAG	0.338000														16			13		0	0	1	0	0
PLEKHN1	84069	broad.mit.edu	37	1	906159	906159	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:906159G>A	uc001ace.3	+	4	540	c.505G>A	c.(505-507)Gcc>Acc	p.A169T	PLEKHN1_uc001acd.3_Intron|PLEKHN1_uc001acf.3_Intron	NM_032129	NP_115505	Q494U1	PKHN1_HUMAN	Homo sapiens pleckstrin homology domain containing, family N member 1 (PLEKHN1), transcript variant 1, mRNA.	169	PH 1.									central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		TGCTTCCCGGGCCCCCAGAGG	0.667000														29			35		0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7528464	7528464	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:7528464C>T	uc010sge.2	-	9	2574	c.2548G>A	c.(2548-2550)Gat>Aat	p.D850N	CD163L1_uc001qsy.3_Missense_Mutation_p.D840N	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	840	SRCR 8.					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						GATATGGCATCTCCACAGTTT	0.453000														37			18		0	0	1	0	0
C9	735	broad.mit.edu	37	5	39315915	39315915	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:39315915C>T	uc003jlv.4	-	5	921	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K		NM_001737	NP_001728	P02748	CO9_HUMAN	Homo sapiens complement component 9 (C9), mRNA.	278	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TGGTAAGTTTCATTTTTGGAA	0.338000														17			6		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113170187	113170187	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:113170187C>T	uc010mtz.3	-	37	8030	c.7693G>A	c.(7693-7695)Ggt>Agt	p.G2565S	SVEP1_uc010mty.3_Missense_Mutation_p.G491S	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	2565	Sushi 20.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TCTACAAAACCATTTTCAATG	0.488000														27			19		0	0	1	0	0
EFCAB3	146779	broad.mit.edu	37	17	60493650	60493650	+	Missense_Mutation	SNP	G	A	A	rs146706371	byFrequency	TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:60493650G>A	uc010wpc.2	+	11	1504	c.1433G>A	c.(1432-1434)aGa>aAa	p.R478K	EFCAB3_uc002izu.2_Missense_Mutation_p.R426K	NM_001144933	NP_001138405	Q8N7B9	EFCB3_HUMAN	Homo sapiens EF-hand calcium binding domain 3 (EFCAB3), transcript variant 1, mRNA.	426							calcium ion binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			GACTCAGGAAGAAAAAGAAAA	0.333000														81			38		0	0	1	0	0
MAP2K4	6416	broad.mit.edu	37	17	12011195	12011195	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:12011195C>T	uc002gnj.3	+	4	671	c.602C>T	c.(601-603)cCa>cTa	p.P201L	MAP2K4_uc002gnk.3_Missense_Mutation_p.P212L|MAP2K4_uc010vvi.2_Missense_Mutation_p.P83L|MAP2K4_uc010vvj.2_Missense_Mutation_p.P73L	NM_003010	NP_003001	P45985	MP2K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 4 (MAP2K4), mRNA.	201	Protein kinase.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to mechanical stimulus|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	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		GATGTTATTCCAGAAGAAATT	0.308000			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""									64			18		0	0	1	0	0
TRIM36	55521	broad.mit.edu	37	5	114473274	114473274	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:114473274A>T	uc003kqs.3	-	5	1416	c.907T>A	c.(907-909)Ttt>Att	p.F303I	TRIM36_uc011cwc.2_Missense_Mutation_p.F291I|TRIM36_uc003kqt.3_Missense_Mutation_p.F148I	NM_018700	NP_061170	Q9NQ86	TRI36_HUMAN	Homo sapiens tripartite motif containing 36 (TRIM36), transcript variant 1, mRNA.	303						acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		AGCTTTTCAAAATGTGTAATT	0.333000														59			29		0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118347	118347	+	RNA	SNP	A	G	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrGL000205.1:118347A>G	uc002kgk.4	+	0		c.1725A>G								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GGACTTCTGCAGCCAGGGAAG	0.542000														57			6		0	0	1	0	0
PIK3R4	30849	broad.mit.edu	37	3	130454764	130454764	+	Silent	SNP	A	G	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:130454764A>G	uc003enj.3	-	2	1397	c.816T>C	c.(814-816)ttT>ttC	p.F272F		NM_014602	NP_055417	Q99570	PI3R4_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 4 (PIK3R4), mRNA.	272	Protein kinase.				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						GTTCAGGGAAAAAATGTCCAT	0.328000														49			13		0	0	1	0	0
COG2	22796	broad.mit.edu	37	1	230795218	230795218	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:230795218C>T	uc001htw.3	+	1	232	c.81C>T	c.(79-81)ttC>ttT	p.F27F	COG2_uc001htx.3_Silent_p.F27F|COG2_uc010pwc.2_5'UTR	NM_007357	NP_031383	Q14746	COG2_HUMAN	Homo sapiens component of oligomeric golgi complex 2 (COG2), transcript variant 1, mRNA.	27					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity	p.F27F(2)		NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				AGGAAGATTTCGATGTCGATC	0.378000														19			24		0	0	1	0	0
RGR	5995	broad.mit.edu	37	10	86008671	86008671	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:86008671C>T	uc001kdd.1	+	2	280	c.242C>T	c.(241-243)tCc>tTc	p.S81F	RGR_uc001kdb.1_Silent_p.L64L|RGR_uc001kdc.1_Intron|RGR_uc001kde.1_Intron	NM_002921	NP_002912	P47804	RGR_HUMAN	Homo sapiens retinal G protein coupled receptor (RGR), transcript variant 1, mRNA.	79					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						CCCAGTGTCTCCCACAGGCGC	0.617000														39			14		0	0	1	0	0
SCNN1G	6340	broad.mit.edu	37	16	23226058	23226058	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:23226058T>A	uc002dlm.1	+	11	1658	c.1519T>A	c.(1519-1521)Ttc>Atc	p.F507I		NM_001039	NP_001030	P51170	SCNNG_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	507					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	WW domain binding|ligand-gated sodium channel activity			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	ACTCTTGATATTCTACAAAGA	0.502000														27			6		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176915099	176915099	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:176915099C>T	uc001glc.3	-	12	2424	c.2212G>A	c.(2212-2214)Gaa>Aaa	p.E738K	ASTN1_uc001glb.1_Missense_Mutation_p.E738K|ASTN1_uc001gld.1_Missense_Mutation_p.E738K|ASTN1_uc009wwx.1_Missense_Mutation_p.E738K	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	746					cell migration|neuron cell-cell adhesion	integral to membrane		p.K737K(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GCAGCCACTTCCTTGGAATGG	0.473000														78			56		0	0	1	0	0
OR4E2	26686	broad.mit.edu	37	14	22133434	22133434	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:22133434C>T	uc010tmd.2	+	0	138	c.138C>T	c.(136-138)atC>atT	p.I46I		NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily E, member 2 (OR4E2), mRNA.	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		TTCTCATCATCATTGCCACAG	0.443000														42			70		0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21147271	21147271	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:21147271C>T	uc001iqi.3	-	8	1198	c.801G>A	c.(799-801)gtG>gtA	p.V267V	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.	267					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						TCTTGTACTTCACCTATGAAA	0.323000														17			8		0	0	1	0	0
OR6Y1	391112	broad.mit.edu	37	1	158517435	158517435	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:158517435C>T	uc010pil.2	-	0	461	c.461G>A	c.(460-462)tGg>tAg	p.W154*		NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily Y, member 1 (OR6Y1), mRNA.	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C153*(1)		NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					TCCACAGAACCAGCATCCTCC	0.463000														35			4		0	0	1	0	0
VPS45	11311	broad.mit.edu	37	1	150065677	150065677	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:150065677C>T	uc001etp.3	+	12	1999	c.1426C>T	c.(1426-1428)Cat>Tat	p.H476Y	VPS45_uc010pbp.1_Non-coding_Transcript|VPS45_uc010pbq.2_Missense_Mutation_p.H440Y|VPS45_uc010pbs.2_Missense_Mutation_p.H371Y|VPS45_uc001etq.3_Missense_Mutation_p.H296Y|VPS45_uc009wlm.1_Missense_Mutation_p.H452Y	NM_007259	NP_009190	Q9NRW7	VPS45_HUMAN	Homo sapiens vacuolar protein sorting 45 homolog (S. cerevisiae) (VPS45), mRNA.	476					blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis	Golgi membrane|endosome membrane|integral to membrane of membrane fraction				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AACCCTGGATCATCTCATCAA	0.378000														53			11		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41710048	41710048	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr21:41710048C>T	uc002yyq.1	-	7	2215	c.1763G>A	c.(1762-1764)aGc>aAc	p.S588N	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.	588	Ig-like C2-type 6.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			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)				CACGTGGACGCTCTGGCTGGT	0.502000														61			35		0	0	1	0	0
L32131	0	broad.mit.edu	37	17	58511324	58511324	+	RNA	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:58511324C>T	uc002iyr.1	-	0		c.2034G>A								Homo sapiens cDNA FLJ33664 fis, clone BRAMY2027451, moderately similar to 60S RIBOSOMAL PROTEIN L12.																		TCTGGTGGTTCCTTGAGGGCT	0.483000														30			9		0	0	1	0	0
MPDZ	8777	broad.mit.edu	37	9	13183421	13183421	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:13183421G>A	uc010mia.1	-	17	2702	c.2645C>T	c.(2644-2646)cCt>cTt	p.P882L	MPDZ_uc010mhz.3_Missense_Mutation_p.P882L|MPDZ_uc011lmn.2_Missense_Mutation_p.P882L|MPDZ_uc010mhy.3_Missense_Mutation_p.P882L|MPDZ_uc003zlb.4_Missense_Mutation_p.P882L	NM_003829	NP_003820	O75970	MPDZ_HUMAN	Homo sapiens multiple PDZ domain protein (MPDZ), mRNA.	882					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TTGTACCTTAGGAGGAGATGA	0.403000														4			3		0	0	1	0	0
GRIA4	2893	broad.mit.edu	37	11	105795390	105795390	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:105795390G>A	uc001pix.2	+	11	2188	c.1742G>A	c.(1741-1743)gGa>gAa	p.G581E	GRIA4_uc001piw.2_Missense_Mutation_p.G581E	NM_000829	NP_000820	P48058	GRIA4_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 4 (GRIA4), transcript variant 1, mRNA.	581					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)	CCAGAGGACGGAAAGGAAGGA	0.478000														27			13		0	0	1	0	0
MMP10	4319	broad.mit.edu	37	11	102649403	102649403	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:102649403C>T	uc001phg.2	-	3	611	c.574G>A	c.(574-576)Gga>Aga	p.G192R		NM_002425	NP_002416	P09238	MMP10_HUMAN	Homo sapiens matrix metallopeptidase 10 (stromelysin 2) (MMP10), mRNA.	192					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		TGAATATCTCCATAAAGCCCA	0.443000														24			12		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41201694	41201694	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:41201694G>A	uc003jmk.2	-	2	476	c.266C>T	c.(265-267)cCa>cTa	p.P89L	C6_uc003jml.1_Missense_Mutation_p.P89L	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	89	TSP type-1 2.				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)				GTCTGACCATGGTCCAAAATC	0.463000														12			34		0	0	1	0	0
GALNT5	11227	broad.mit.edu	37	2	158165122	158165122	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:158165122G>A	uc002tzg.3	+	8	2819	c.2564G>A	c.(2563-2565)gGa>gAa	p.G855E	GALNT5_uc010zci.2_Non-coding_Transcript	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) (GALNT5), mRNA.	855	Ricin B-type lectin.				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						ATTAAATGTGGAGAATGGTGT	0.433000														119			61		0	0	1	0	0
MAP4K3	8491	broad.mit.edu	37	2	39664106	39664106	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:39664106G>A	uc002rro.3	-	0	114	c.23C>T	c.(22-24)tCc>tTc	p.S8F	MAP4K3_uc002rrp.3_Missense_Mutation_p.S8F|LOC728730_uc002rrq.3_Intron|LOC728730_uc002rrr.1_5'Flank	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 3 (MAP4K3), mRNA.	8					JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				GTTCCGGCGGGACAAATCGAA	0.726000														17			8		0	0	1	0	0
TP53RK	112858	broad.mit.edu	37	20	45315729	45315729	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:45315729A>G	uc002xsk.3	-	1	648	c.425T>C	c.(424-426)tTa>tCa	p.L142S	SLC13A3_uc002xsg.2_5'Flank|SLC13A3_uc010gho.2_5'Flank|TP53RK_uc002xsj.3_3'UTR	NM_033550	NP_291028	Q96S44	PRPK_HUMAN	Homo sapiens TP53 regulating kinase (TP53RK), mRNA.	142	Protein kinase.				lipopolysaccharide biosynthetic process	membrane|nucleus	ATP binding|p53 binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			kidney(1)|large_intestine(1)|lung(4)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				TGTCTTGGCTAAGTTGGAGAG	0.463000														131			34		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113166749	113166749	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:113166749G>A	uc010mtz.3	-	38	9861	c.9524C>T	c.(9523-9525)tCc>tTc	p.S3175F	SVEP1_uc010mty.3_Missense_Mutation_p.S1101F	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	3175	Sushi 29.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AGGACTGCAGGAGATTCTCTC	0.428000														118			88		0	0	1	0	0
ZNF260	339324	broad.mit.edu	37	19	37006034	37006034	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:37006034A>T	uc002oee.2	-	3	1029	c.107T>A	c.(106-108)tTt>tAt	p.F36Y	ZNF260_uc010eey.2_Missense_Mutation_p.F36Y|ZNF260_uc002oef.2_Missense_Mutation_p.F36Y|ZNF260_uc002oed.2_Missense_Mutation_p.F36Y|ZNF260_uc021uti.1_Missense_Mutation_p.F36Y	NM_001012756	NP_001159510	Q3ZCT1	ZN260_HUMAN	Homo sapiens zinc finger protein 260 (ZNF260), transcript variant 1, mRNA.	36					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					CTTCAGGCTAAAAGTTTTTCT	0.383000														36			9		0	0	1	0	0
POTEA	340441	broad.mit.edu	37	8	43197399	43197399	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:43197399G>A	uc003xpz.1	+	10	1331	c.1288G>A	c.(1288-1290)Gat>Aat	p.D430N	POTEA_uc003xqa.1_Missense_Mutation_p.D384N	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN	Homo sapiens POTE ankyrin domain family, member A (POTEA), transcript variant 2, mRNA.	430										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						AGCGTCAGAGGATTATGATTT	0.358000														32			11		0	0	1	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74873735	74873735	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:74873735G>A	uc001owb.3	+	1	447	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	SLCO2B1_uc010rrp.1_Non-coding_Transcript|SLCO2B1_uc010rrq.2_Intron|SLCO2B1_uc010rrr.2_Intron|SLCO2B1_uc010rrs.2_Intron|SLCO2B1_uc001owc.3_Intron|SLCO2B1_uc001owd.3_5'UTR	NM_007256	NP_001138683	O94956	SO2B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2B1 (SLCO2B1), transcript variant 1, mRNA.	18					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	ACCAGACAAGGAAACCAAAGC	0.542000														99			58		0	0	1	0	0
KRT4	3851	broad.mit.edu	37	12	53205639	53205639	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:53205639C>T	uc001saz.3	-	1	807	c.807G>A	c.(805-807)ctG>ctA	p.L269L		NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN	Homo sapiens keratin 4 (KRT4), mRNA.	195						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						GCTGCTTCCTCAGGACACTGA	0.537000														30			24		0	0	1	0	0
SLC38A1	81539	broad.mit.edu	37	12	46594906	46594906	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:46594906G>A	uc009zkj.1	-	12	1663	c.978C>T	c.(976-978)gcC>gcT	p.A326A	SLC38A1_uc001rpb.3_Silent_p.A326A|SLC38A1_uc001rpc.3_Silent_p.A326A|SLC38A1_uc001rpd.3_Silent_p.A326A|SLC38A1_uc001rpe.3_Silent_p.A326A|SLC38A1_uc010slh.2_Silent_p.A299A|SLC38A1_uc001rpa.3_Silent_p.A326A	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	Homo sapiens solute carrier family 38, member 1 (SLC38A1), transcript variant 1, mRNA.	326					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			AGCCAAAAATGGCAGTCAAGA	0.274000														18			10		0	0	1	0	0
CLTCL1	8218	broad.mit.edu	37	22	19175507	19175507	+	Missense_Mutation	SNP	C	T	T	rs1137474		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:19175507C>T	uc021wle.1	-	27	4495	c.4420G>A	c.(4420-4422)Gag>Aag	p.E1474K	CLTCL1_uc021wld.1_3'UTR|CLTCL1_uc021wlc.1_3'UTR|CLTCL1_uc021wlf.1_Missense_Mutation_p.E1474K|CLTCL1_uc011agw.1_Missense_Mutation_p.E1453K|CLTCL1_uc011agt.2_Missense_Mutation_p.E265K|CLTCL1_uc011agu.2_Intron	NM_007098	NP_009029	P53675	CLH2_HUMAN	Homo sapiens clathrin, heavy chain-like 1 (CLTCL1), transcript variant 1, mRNA.	1474	Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.			E -> K (in Ref. 3; AAB40908/AAB40909).	anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	p.E1473Q(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TAGTCCTCCTCCTCTGTCAGC	0.587000			T	?	ALCL									78			69		0	0	1	0	0
MBD3L1	85509	broad.mit.edu	37	19	8953661	8953661	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:8953661G>A	uc002mko.2	+	0	393	c.307G>A	c.(307-309)Gga>Aga	p.G103R		NM_145208	NP_660209	Q8WWY6	MB3L1_HUMAN	Homo sapiens methyl-CpG binding domain protein 3-like 1 (MBD3L1), mRNA.	103	Transcription repressor.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	12						TTACACAGGTGGATCTCTGCT	0.537000														17			7		0	0	1	0	0
RSPO1	284654	broad.mit.edu	37	1	38078583	38078583	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:38078583C>T	uc001cbl.2	-	7	1528	c.636G>A	c.(634-636)agG>agA	p.R212R	RSPO1_uc009vvf.2_Silent_p.R185R|RSPO1_uc001cbm.2_Silent_p.R212R|RSPO1_uc009vvg.2_Silent_p.R149R	NM_001038633	NP_001229837	Q2MKA7	RSPO1_HUMAN	Homo sapiens R-spondin 1 (RSPO1), transcript variant 1, mRNA.	212					positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTCCCTTCCTCCTCTTCTGCC	0.622000														41			22		0	0	1	0	0
OR52N5	390075	broad.mit.edu	37	11	5799487	5799487	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:5799487G>A	uc010qzn.2	-	0	411	c.378C>T	c.(376-378)ctC>ctT	p.L126L	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001001922	NP_001001922	Q8NH56	O52N5_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 5 (OR52N5), mRNA.	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L126R(1)		endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		CTAGAGCCATGAGCATGAGCA	0.488000														27			26		0	0	1	0	0
TEX2	55852	broad.mit.edu	37	17	62265727	62265727	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:62265727G>A	uc002jed.3	-	4	2397	c.2246C>T	c.(2245-2247)aCc>aTc	p.T749I	TEX2_uc002jec.3_Missense_Mutation_p.T742I|TEX2_uc002jee.3_Missense_Mutation_p.T742I	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	Homo sapiens testis expressed 2 (TEX2), mRNA.	742					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		GCGGCTGTGGGTCAGGTGCCC	0.567000														92			15		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124053173	124053173	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:124053173C>T	uc003ehg.3	+	8	1599	c.1472C>T	c.(1471-1473)tCc>tTc	p.S491F	KALRN_uc010hrv.1_Missense_Mutation_p.S491F|KALRN_uc003ehf.1_Missense_Mutation_p.S491F|KALRN_uc011bjy.1_Missense_Mutation_p.S491F	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	491					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CCTGGGAACTCCGAATCCCTC	0.567000														87			32		0	0	1	0	0
OR4N3P	390539	broad.mit.edu	37	15	22414132	22414132	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:22414132G>A	uc001yuf.3	+	0	671	c.431G>A	c.(430-432)cGc>cAc	p.R144H	abParts_uc001yuj.2_Intron					Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA.																		ATTCTTTGTCGCATACGAGCG	0.463000														70			22		0	0	1	0	0
ACPP	55	broad.mit.edu	37	3	132071618	132071618	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:132071618C>T	uc010htp.2	+	8	1009	c.919C>T	c.(919-921)Ctt>Ttt	p.L307F	ACPP_uc003eon.3_Missense_Mutation_p.L274F|ACPP_uc003eop.4_Missense_Mutation_p.L307F	NM_001099	NP_001090	P15309	PPAP_HUMAN	Homo sapiens acid phosphatase, prostate (ACPP), transcript variant 1, mRNA.	307						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						CAACGGACTCCTTCCTCCCTA	0.433000														37			15		0	0	1	0	0
SLC2A6	11182	broad.mit.edu	37	9	136338637	136338637	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:136338637G>A	uc004cee.3	-	7	1217	c.1122C>T	c.(1120-1122)ggC>ggT	p.G374G	SLC2A6_uc004cef.3_Intron|SLC2A6_uc004ceg.3_Silent_p.G351G	NM_017585	NP_060055	Q9UGQ3	GTR6_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 6 (SLC2A6), transcript variant 1, mRNA.	374						integral to membrane|plasma membrane	D-glucose transmembrane transporter activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		CGCTTTCCAGGCCCGCAGTGC	0.647000														9			11		0	0	1	0	0
TARSL2	123283	broad.mit.edu	37	15	102198024	102198024	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:102198024G>A	uc002bxm.3	-	16	2164	c.2109C>T	c.(2107-2109)atC>atT	p.I703I	TARSL2_uc002bxl.3_Intron|TARSL2_uc010usi.2_Non-coding_Transcript	NM_152334	NP_689547	A2RTX5	SYTC2_HUMAN	Homo sapiens threonyl-tRNA synthetase-like 2 (TARSL2), mRNA.	703					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCCCCACAGGGATGACCATCA	0.343000														15			5		0	0	1	0	0
DOCK9	23348	broad.mit.edu	37	13	99519711	99519711	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr13:99519711G>A	uc001vnt.2	-	29	3312	c.3257C>T	c.(3256-3258)cCa>cTa	p.P1086L	DOCK9_uc001vnw.2_Missense_Mutation_p.P1085L|DOCK9_uc021rlw.1_Missense_Mutation_p.P1085L|DOCK9_uc001vnv.1_Non-coding_Transcript|DOCK9_uc010tir.1_Missense_Mutation_p.P1086L|DOCK9_uc010tis.1_Missense_Mutation_p.P1085L|DOCK9_uc010tit.1_Missense_Mutation_p.P1086L|DOCK9_uc010tiq.1_Missense_Mutation_p.P50L|DOCK9_uc010afu.1_Missense_Mutation_p.P932L	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	Homo sapiens dedicator of cytokinesis 9 (DOCK9), transcript variant 1, mRNA.	1086					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TTTTCCAAATGGCATTGGTAA	0.343000														23			29		0	0	1	0	0
OR1A1	8383	broad.mit.edu	37	17	3119415	3119415	+	Silent	SNP	C	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:3119415C>A	uc010vrc.2	+	0	501	c.501C>A	c.(499-501)tcC>tcA	p.S167S		NM_014565	NP_055380	Q9P1Q5	OR1A1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily A, member 1 (OR1A1), mRNA.	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						CTAGTCTGTCCTTCTGTGGCA	0.488000														16			46		4.21674e-32	4.30333e-32	1	1	0
CRAMP1L	57585	broad.mit.edu	37	16	1715107	1715107	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:1715107C>T	uc010uvh.2	+	12	2720	c.2720C>T	c.(2719-2721)tCc>tTc	p.S907F	CRAMP1L_uc002cmf.3_Non-coding_Transcript	NM_020825	NP_065876	Q96RY5	CRML_HUMAN	Homo sapiens Crm, cramped-like (Drosophila) (CRAMP1L), mRNA.	907						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						AACGTTTGTTCCTTCTCCATC	0.498000														26			7		0	0	1	0	0
GSDMD	79792	broad.mit.edu	37	8	144645035	144645035	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:144645035C>T	uc003yyf.3	+	11	1603	c.1560C>T	c.(1558-1560)tcC>tcT	p.S520S	GSDMD_uc010mfe.3_Silent_p.S472S|GSDMD_uc003yyg.3_Silent_p.S472S|GSDMD_uc003yyh.3_Silent_p.S403S	NM_024736	NP_079012	P57764	GSDMD_HUMAN	Homo sapiens gasdermin D (GSDMD), transcript variant 1, mRNA.	472										breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						TCTACGCCTCCCTGGCACTGC	0.672000														26			8		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13766229	13766229	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:13766229G>A	uc003jfd.2	-	58	9999	c.9957C>T	c.(9955-9957)atC>atT	p.I3319I	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3319	Stalk (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)					TGATCCGCATGATGAGGTGAG	0.532000									Kartagener syndrome					106			25		0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82445571	82445571	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:82445571G>A	uc001dit.4	+	16	3170	c.2989G>A	c.(2989-2991)Gtg>Atg	p.V997M	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Missense_Mutation_p.V997M|LPHN2_uc001div.3_Missense_Mutation_p.V997M|LPHN2_uc009wcd.3_Missense_Mutation_p.V997M|LPHN2_uc001diw.3_Missense_Mutation_p.V581M|LPHN2_uc009wce.1_Missense_Mutation_p.V83M	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	1010					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			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)		TATCTTCTTGGTGATCACATT	0.299000														15			9		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24922244	24922244	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:24922244C>T	uc001ywo.3	+	0	1704	c.1230C>T	c.(1228-1230)tcC>tcT	p.S410S		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	410	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)		CCACAGACTCCCTGCCCCTGA	0.557000														44			28		0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62300842	62300842	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:62300842G>A	uc001ntl.3	-	4	1347	c.1047C>T	c.(1045-1047)atC>atT	p.I349I	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	349					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)				GAGGGGCTTGGATAGTCAAGC	0.597000														39			31		0	0	1	0	0
FAM179B	23116	broad.mit.edu	37	14	45473543	45473543	+	Missense_Mutation	SNP	C	T	T	rs141013517		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:45473543C>T	uc001wvw.3	+	3	2827	c.2618C>T	c.(2617-2619)tCg>tTg	p.S873L	FAM179B_uc001wvv.3_Missense_Mutation_p.S873L|FAM179B_uc010anc.3_Non-coding_Transcript|FAM179B_uc001wvu.3_Missense_Mutation_p.S873L	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	Homo sapiens family with sequence similarity 179, member B (FAM179B), mRNA.	873							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						AGCCAAAAATCGTCTGATCCT	0.358000														23			14		0	0	1	0	0
IGJ	3512	broad.mit.edu	37	4	71522180	71522180	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:71522180C>T	uc010ihz.3	-	4	535	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K	IGJ_uc003hfn.4_Missense_Mutation_p.E116K	NM_144646	NP_653247	P01591	IGJ_HUMAN	Homo sapiens immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides (IGJ), mRNA.	116					immune response	extracellular region	antigen binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7			Lung(101;0.235)			GCACTGTCTTCATCACAGATA	0.418000														40			15		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7581130	7581130	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:7581130G>A	uc003mxp.1	+	22	4986	c.4707G>A	c.(4705-4707)caG>caA	p.Q1569Q	DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1569	Central fibrous rod domain.				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)		TGCAGCTGCAGAAGCAGAAGG	0.547000														62			49		0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25839938	25839938	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:25839938C>T	uc001isj.3	+	5	1498	c.1438C>T	c.(1438-1440)Cgc>Tgc	p.R480C		NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	480						integral to membrane|plasma membrane	G-protein coupled receptor activity			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						AAGCACATTTCGCTGTATTCT	0.413000														58			21		0	0	1	0	0
ITIH3	3699	broad.mit.edu	37	3	52833931	52833931	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:52833931A>T	uc003dfv.2	+	8	1105	c.1069A>T	c.(1069-1071)Aaa>Taa	p.K357*	ITIH3_uc011bek.1_Nonsense_Mutation_p.K357*	NM_002217	NP_002208	Q06033	ITIH3_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 3 (ITIH3), mRNA.	357	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CATGGAGGATAAAGGAAGTAA	0.587000														26			4		0	0	1	0	0
KCND3	3752	broad.mit.edu	37	1	112524464	112524464	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:112524464G>A	uc001ebu.1	-	1	1365	c.885C>T	c.(883-885)ttC>ttT	p.F295F	KCND3_uc001ebv.1_Silent_p.F295F	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA.	295						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		TGAAGATCCTGAAGACGCGGA	0.592000														30			9		0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132534888	132534888	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:132534888C>T	uc001ujn.3	+	39	7373	c.7221C>T	c.(7219-7221)ctC>ctT	p.L2407L	EP400_uc021rgq.1_Silent_p.L2406L|EP400_uc001ujm.3_Silent_p.L2326L	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	2443	Myb-like.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		ACCGTCCTCTCCGTACGAGCC	0.517000														47			11		0	0	1	0	0
SIRT2	22933	broad.mit.edu	37	19	39384160	39384160	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:39384160G>A	uc002ojt.2	-	3	461	c.120C>T	c.(118-120)ttC>ttT	p.F40F	SIRT2_uc010egi.2_Silent_p.F3F|SIRT2_uc002ojs.2_Silent_p.F20F|SIRT2_uc002oju.2_Silent_p.F3F|SIRT2_uc010egh.2_Silent_p.F3F|SIRT2_uc002ojv.2_Silent_p.F40F	NM_012237	NP_085096	Q8IXJ6	SIRT2_HUMAN	Homo sapiens sirtuin 2 (SIRT2), transcript variant 1, mRNA.	40					cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state	chromatin silencing complex|cytoplasm|microtubule	NAD+ binding|NAD-dependent histone deacetylase activity|histone acetyltransferase binding|histone deacetylase binding|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			AGTTCCGCAGGAAGTCCACTG	0.647000														5			4		0	0	1	0	0
TANC2	26115	broad.mit.edu	37	17	61392013	61392013	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:61392013C>T	uc002jal.4	+	7	1225	c.1202C>T	c.(1201-1203)cCa>cTa	p.P401L	TANC2_uc010wpe.2_Missense_Mutation_p.P311L	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA.	401							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						TCAGACAGCCCACATGCCTCC	0.458000														180			28		0	0	1	0	0
NLRP6	171389	broad.mit.edu	37	11	280862	280863	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:280862_280863GG>AA	uc010qvs.2	+	3	1128_1129	c.1128_1129GG>AA	c.(1126-1131)aaggag>aaAAag	p.E377K	NLRP6_uc010qvt.2_Missense_Mutation_p.E377K	NM_138329	NP_612202	P59044	NALP6_HUMAN	Homo sapiens NLR family, pyrin domain containing 6 (NLRP6), mRNA.	377	NACHT.					cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GCTTCGTGAAGGAGAACGAGAC	0.624000														94			15		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77400934	77400934	+	Silent	SNP	G	A	A	rs149732972		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:77400934G>A	uc004ajl.1	-	20	3013	c.2775C>T	c.(2773-2775)ttC>ttT	p.F925F	TRPM6_uc004ajk.1_Silent_p.F920F|TRPM6_uc022bib.1_Silent_p.F920F|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	925					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						ATCGAAGGACGAAGCCAGCTG	0.478000														66			28		0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178417606	178417606	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:178417606C>T	uc003mjr.3	-	3	1178	c.999G>A	c.(997-999)agG>agA	p.R333R	GRM6_uc010jla.1_5'Flank|GRM6_uc003mjs.1_5'Flank	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	333					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)		CGATGGAGGCCCTTTTGGGCA	0.612000														18			12		0	0	1	0	0
ADAM12	8038	broad.mit.edu	37	10	127738224	127738224	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:127738224G>A	uc001ljk.2	-	14	2046	c.1633C>T	c.(1633-1635)Cct>Tct	p.P545S	ADAM12_uc010qul.1_Missense_Mutation_p.P496S|ADAM12_uc001ljm.3_Missense_Mutation_p.P545S|ADAM12_uc001ljn.3_Missense_Mutation_p.P542S|ADAM12_uc001ljl.4_Missense_Mutation_p.P542S	NM_003474	NP_003465	O43184	ADA12_HUMAN	Homo sapiens ADAM metallopeptidase domain 12 (ADAM12), transcript variant 1, mRNA.	545	Cys-rich.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	SH3 domain binding|metalloendopeptidase activity|protein binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CAGATCCCAGGGGCAGGTTTA	0.468000														33			27		0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104056731	104056731	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:104056731G>A	uc001tjw.3	+	17	2163	c.1977G>A	c.(1975-1977)ccG>ccA	p.P659P		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	659					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.P659Q(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCATTGTCCCGATTCTGCCCC	0.453000														39			40		0	0	1	0	0
APOBEC3C	27350	broad.mit.edu	37	22	39411728	39411728	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:39411728C>T	uc003awr.3	+	1	249	c.146C>T	c.(145-147)tCc>tTc	p.S49F		NM_014508	NP_055323	Q9NRW3	ABC3C_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3C (APOBEC3C), mRNA.	49					DNA demethylation|interspecies interaction between organisms|negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|protein binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6	Melanoma(58;0.04)					TCAGTTGTCTCCTGGAAGACG	0.478000														79			37		0	0	1	0	0
RLF	6018	broad.mit.edu	37	1	40705455	40705455	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:40705455C>T	uc001cfc.4	+	7	5112	c.5081C>T	c.(5080-5082)cCt>cTt	p.P1694L	RLF_uc001cfd.4_Missense_Mutation_p.P1385L	NM_012421	NP_036553	Q13129	RLF_HUMAN	Homo sapiens rearranged L-myc fusion (RLF), mRNA.	1694					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)			CCTCCTCCTCCTTGTAAAATA	0.393000														76			13		0	0	1	0	0
LAMP5	24141	broad.mit.edu	37	20	9510431	9510431	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:9510431C>T	uc002wni.2	+	5	1302	c.807C>T	c.(805-807)atC>atT	p.I269I	LAMP5_uc010zrc.2_Silent_p.I225I	NM_012261	NP_036393	Q9UJQ1	CT103_HUMAN	Homo sapiens lysosomal-associated membrane protein family, member 5 (LAMP5), transcript variant 1, mRNA.	269						integral to membrane											AGGTGCAGATCCCTCGGGACA	0.547000														21			32		0	0	1	0	0
NOMO3	408050	broad.mit.edu	37	16	16357074	16357074	+	Splice_Site	SNP	T	G	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:16357074T>G	uc002dep.3	+	13	1672	c.1537_splice	c.e13+2	p.D513_splice	NOMO3_uc010bvp.2_Splice_Site_p.D346_splice|NOMO3_uc002deq.3_Splice_Site_p.D513_splice	NM_001004067	NP_001004067	P69849	NOMO3_HUMAN	Homo sapiens NODAL modulator 3 (NOMO3), mRNA.	513						integral to membrane	carbohydrate binding|carboxypeptidase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	8				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CTTGTTTGGGTAAGATATCAC	0.438000														61			47		0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125072843	125072843	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:125072843C>T	uc003yqw.3	+	23	3246	c.3040C>T	c.(3040-3042)Cgg>Tgg	p.R1014W	AK057332_uc003yqy.1_Non-coding_Transcript	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1014						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CTCTGTGGATCGGCCTCAGGC	0.547000														22			20		0	0	1	0	0
SNRPA	6626	broad.mit.edu	37	19	41271057	41271057	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:41271057C>T	uc002ooz.3	+	5	1389	c.834C>T	c.(832-834)tcC>tcT	p.S278S		NM_004596	NP_004587	P09012	SNRPA_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptide A (SNRPA), mRNA.	278	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)			TGAAGATCTCCTTTGCCAAGA	0.587000														15			3		0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43712768	43712768	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:43712768G>A	uc001zrs.3	-	20	4549	c.4401C>T	c.(4399-4401)ttC>ttT	p.F1467F	TP53BP1_uc010udp.2_Silent_p.F1467F|TP53BP1_uc001zrq.4_Silent_p.F1472F|TP53BP1_uc001zrr.4_Silent_p.F1472F|TP53BP1_uc010udq.1_Silent_p.F1472F	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	1467					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)		CAGCAGCCTGGAAAGGAATTT	0.547000								Other conserved DNA damage response genes						72			33		0	0	1	0	0
FUT3	2525	broad.mit.edu	37	19	5844642	5844642	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:5844642C>T	uc002mdk.2	-	1	306	c.209G>A	c.(208-210)tGg>tAg	p.W70*	FUT3_uc002mdm.2_Nonsense_Mutation_p.W70*|FUT3_uc002mdj.2_Nonsense_Mutation_p.W70*|FUT3_uc002mdl.2_Nonsense_Mutation_p.W70*|FUT3_uc021unn.1_Nonsense_Mutation_p.W70*|BC033124_uc002mdn.3_5'Flank	NM_001097641	NP_001091110	P21217	FUT3_HUMAN	Homo sapiens fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) (FUT3), transcript variant 4, mRNA.	70					protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						GTGGAAAGGCCATGTCCGTAG	0.647000														42			26		0	0	1	0	0
C4orf22	255119	broad.mit.edu	37	4	81866016	81866016	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:81866016C>T	uc010ijp.3	+	5	629	c.580C>T	c.(580-582)Caa>Taa	p.Q194*	C4orf22_uc003hmf.3_Nonsense_Mutation_p.Q177*	NM_001206997	NP_001193926	Q6V702	CD022_HUMAN	Homo sapiens chromosome 4 open reading frame 22 (C4orf22), transcript variant 1, mRNA.	177										NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						TCCCAACTATCAAGTGATTGC	0.313000														48			5		0	0	1	0	0
KCNK9	51305	broad.mit.edu	37	8	140631221	140631221	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:140631221G>A	uc003yvf.1	-	1	469	c.405C>T	c.(403-405)ttC>ttT	p.F135F	KCNK9_uc003yvg.1_Silent_p.F135F|KCNK9_uc003yve.1_Non-coding_Transcript	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	Homo sapiens potassium channel, subfamily K, member 9 (KCNK9), mRNA.	135						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)			GGTAGCGCACGAAGGTGTTCA	0.582000														28			4		0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28149659	28149659	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:28149659C>T	uc009xky.3	-	18	3014	c.2916G>A	c.(2914-2916)ctG>ctA	p.L972L	ARMC4_uc010qds.2_Silent_p.L497L|ARMC4_uc010qdt.2_Silent_p.L664L|ARMC4_uc001itz.3_Silent_p.L972L	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	972							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CATTTGATTTCAGATAACGCA	0.507000														34			14		0	0	1	0	0
OPRD1	4985	broad.mit.edu	37	1	29189408	29189408	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:29189408C>T	uc001brf.1	+	2	974	c.732C>T	c.(730-732)cgC>cgT	p.R244R		NM_000911	NP_000902	P41143	OPRD_HUMAN	Homo sapiens opioid receptor, delta 1 (OPRD1), mRNA.	244					immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding	p.R244C(1)		breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)	GCAGTGTGCGCCTGCTGTCGG	0.647000														40			15		0	0	1	0	0
PIP5K1A	8394	broad.mit.edu	37	1	151205082	151205082	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:151205082C>T	uc001exj.3	+	6	994	c.542C>T	c.(541-543)tCc>tTc	p.S181F	PIP5K1A_uc021oyo.1_Missense_Mutation_p.S169F|PIP5K1A_uc001exi.3_Missense_Mutation_p.S168F|PIP5K1A_uc010pcu.2_Missense_Mutation_p.S169F|PIP5K1A_uc001exk.3_Missense_Mutation_p.S168F|PIP5K1A_uc010pcv.2_5'Flank	NM_001135638	NP_001129110	Q99755	PI51A_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, alpha (PIP5K1A), transcript variant 1, mRNA.	181	PIPK.				phospholipid biosynthetic process|signal transduction	Golgi stack|endomembrane system|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCTAGTGGTTCCCTATTCTAT	0.463000														37			4		0	0	1	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185183	127185183	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:127185183C>T	uc004eum.3	-	0	1200	c.1003G>A	c.(1003-1005)Gat>Aat	p.D335N		NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN	Homo sapiens actin-related protein T1 (ACTRT1), mRNA.	335						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						AAGCATCTATCAGGAGAAGCT	0.532000														22			31		0	0	1	0	0
C1QC	714	broad.mit.edu	37	1	22974214	22974214	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:22974214G>A	uc001bgc.4	+	2	779	c.676G>A	c.(676-678)Gac>Aac	p.D226N	C1QC_uc001bga.4_Missense_Mutation_p.D226N	NM_172369	NP_758957	P02747	C1QC_HUMAN	Homo sapiens complement component 1, q subcomponent, C chain (C1QC), transcript variant 2, mRNA.	226	C1q.				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	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)	TGACTACTACGACATGGTGGG	0.632000														50			19		0	0	1	0	0
MUM1L1	139221	broad.mit.edu	37	X	105449714	105449714	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:105449714C>T	uc022cca.1	+	0	289	c.289C>T	c.(289-291)Ctg>Ttg	p.L97L	MUM1L1_uc004emg.2_Silent_p.L97L|MUM1L1_uc004emf.2_Silent_p.L97L	NM_001171020	NP_001164491	Q5H9M0	MUML1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA.	97										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						ACTGGGTATTCTGAATGAGAG	0.453000														6			11		0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48612238	48612238	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:48612238C>T	uc003ctz.2	-	75	6341	c.6340G>A	c.(6340-6342)Ggt>Agt	p.G2114S		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	2114	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ACCTTAGCACCCTTGAGTCCA	0.582000														43			6		0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58154266	58154266	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:58154266A>G	uc003djj.2	+	43	7463	c.7298A>G	c.(7297-7299)gAa>gGa	p.E2433G	FLNB_uc010hne.2_Missense_Mutation_p.E2464G|FLNB_uc003djk.2_Missense_Mutation_p.E2422G|FLNB_uc010hnf.2_Missense_Mutation_p.E2409G|FLNB_uc003djl.2_Missense_Mutation_p.E2253G|FLNB_uc003djm.2_Missense_Mutation_p.E2240G|BC041347_uc003djn.3_Intron	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	2433	Interaction with INPPL1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GATTGCCAGGAAACACCTGAA	0.522000														23			10		0	0	1	0	0
ASCC3	10973	broad.mit.edu	37	6	101053462	101053462	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:101053462G>A	uc003pqk.3	-	32	5488	c.5159C>T	c.(5158-5160)cCt>cTt	p.P1720L		NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 3 (ASCC3), transcript variant 1, mRNA.	1720	Helicase C-terminal 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TACTGGGAAAGGTTCATAAAG	0.308000														4			3		0	0	1	0	0
CDC25C	995	broad.mit.edu	37	5	137665301	137665301	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:137665301A>C	uc003lcs.1	-	2	664	c.464T>G	c.(463-465)cTt>cGt	p.L155R	CDC25C_uc003lcp.1_Missense_Mutation_p.L77R|CDC25C_uc003lcq.1_Intron|CDC25C_uc003lcr.1_Missense_Mutation_p.L77R|CDC25C_uc011cyp.1_Missense_Mutation_p.L94R|CDC25C_uc010jet.1_Missense_Mutation_p.L77R|CDC25C_uc003lct.1_Missense_Mutation_p.L77R|CDC25C_uc003lcu.1_Intron	NM_001790	NP_001781	P30307	MPIP3_HUMAN	Homo sapiens cell division cycle 25 homolog C (S. pombe) (CDC25C), transcript variant 1, mRNA.	77					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.D154N(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)			CCCACTGCTAAGATTCGAAAG	0.418000														53			47		0	0	1	0	0
OR5K1	26339	broad.mit.edu	37	3	98189371	98189371	+	Splice_Site	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:98189371G>A	uc003dsm.3	+	1	952	c.952_splice	c.e1+1			NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 1 (OR5K1), mRNA.						sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGAAACAAGTGACATCTACTA	0.274000														14			3		0	0	1	0	0
MPZL3	196264	broad.mit.edu	37	11	118107914	118107914	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:118107914G>A	uc001psm.3	-	2	304	c.302C>T	c.(301-303)tCc>tTc	p.S101F	MPZL3_uc010rxy.2_Missense_Mutation_p.S89F|MPZL3_uc010rxz.2_Intron|MPZL3_uc009yzy.3_Intron	NM_198275	NP_938016	Q6UWV2	MPZL3_HUMAN	Homo sapiens myelin protein zero-like 3 (MPZL3), mRNA.	101	Ig-like V-type.				cell adhesion	integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TCCAACCCAGGAAATCCGATC	0.428000														28			24		0	0	1	0	0
CCAR1	55749	broad.mit.edu	37	10	70520823	70520823	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:70520823C>T	uc001joo.3	+	15	2099	c.1980C>T	c.(1978-1980)tcC>tcT	p.S660S	CCAR1_uc001jol.1_Non-coding_Transcript|CCAR1_uc001jom.1_Silent_p.S465S|CCAR1_uc009xpx.1_Silent_p.S634S|CCAR1_uc001jon.1_Silent_p.S606S|CCAR1_uc010qiz.1_Silent_p.S645S|CCAR1_uc010qja.1_Silent_p.S645S|CCAR1_uc010qjb.2_Non-coding_Transcript	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN	Homo sapiens cell division cycle and apoptosis regulator 1 (CCAR1), mRNA.	660	SAP.				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						GATTAAAATCCCAGTTAATAG	0.363000														59			15		0	0	1	0	0
CKAP5	9793	broad.mit.edu	37	11	46772952	46772952	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:46772952G>A	uc001ndi.2	-	38	5392	c.5266C>T	c.(5266-5268)Ccc>Tcc	p.P1756S	CKAP5_uc009ylg.1_Missense_Mutation_p.P1642S|CKAP5_uc001ndj.2_Missense_Mutation_p.P1696S|CKAP5_uc001ndh.1_Missense_Mutation_p.P685S	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	Homo sapiens cytoskeleton associated protein 5 (CKAP5), transcript variant 1, mRNA.	1756					G2/M transition of mitotic cell cycle|RNA transport|cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|mitotic prometaphase|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						GTCCTTATGGGAAATTCACTT	0.418000														94			19		0	0	1	0	0
RRP7A	27341	broad.mit.edu	37	22	42910224	42910224	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:42910224G>A	uc003bcp.3	-	3	1208	c.714C>T	c.(712-714)ctC>ctT	p.L238L	RRP7A_uc003bcq.3_Silent_p.L215L	NM_015703	NP_056518	Q9Y3A4	RRP7A_HUMAN	Homo sapiens ribosomal RNA processing 7 homolog A (S. cerevisiae) (RRP7A), mRNA.	215							RNA binding|nucleotide binding			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	10						CAGTCCGGGGGAGCACAGGCC	0.657000														59			6		0	0	1	0	0
PLBD1	79887	broad.mit.edu	37	12	14689583	14689583	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:14689583G>A	uc001rcc.1	-	4	781	c.620C>T	c.(619-621)cCc>cTc	p.P207L		NM_024829	NP_079105	Q6P4A8	PLBL1_HUMAN	Homo sapiens phospholipase B domain containing 1 (PLBD1), mRNA.	207					lipid catabolic process	extracellular region	hydrolase activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						AGAGAGTGAGGGAATCAGATC	0.443000														63			11		0	0	1	0	0
SOX14	8403	broad.mit.edu	37	3	137483998	137483998	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:137483998A>C	uc003erm.2	+	0	865	c.372A>C	c.(370-372)aaA>aaC	p.K124N		NM_004189	NP_004180	O95416	SOX14_HUMAN	Homo sapiens SRY (sex determining region Y)-box 14 (SOX14), mRNA.	124					negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding			large_intestine(2)|lung(12)	14						CGCCCGAGAAAGCCCGGGCCT	0.706000														28			8		0	0	1	0	0
NKAPL	222698	broad.mit.edu	37	6	28227403	28227403	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:28227403C>A	uc003nkt.3	+	0	306	c.254C>A	c.(253-255)tCc>tAc	p.S85Y	ZKSCAN4_uc011dlb.1_5'Flank	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN	Homo sapiens NFKB activating protein-like (NKAPL), mRNA.	85										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						GCCTTCGCGTCCTCCTGGTCG	0.582000														65			15		1.52009e-12	1.54162e-12	1	1	0
BCORL1	63035	broad.mit.edu	37	X	129149995	129149995	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:129149995C>T	uc022cdu.1	+	2	3291	c.3247C>T	c.(3247-3249)Cgg>Tgg	p.R1083W	BCORL1_uc010nrd.1_Missense_Mutation_p.R985W	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.	1083					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						AGCTGAAGTTCGGGCTAAGGC	0.572000														47			24		0	0	1	0	0
LPO	4025	broad.mit.edu	37	17	56344924	56344924	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:56344924C>T	uc002ivt.3	+	11	2224	c.1908C>T	c.(1906-1908)ttC>ttT	p.F636F	LPO_uc010wns.2_Silent_p.F577F|LPO_uc010dcp.3_Silent_p.F553F|LPO_uc010dcq.3_Silent_p.F307F|LPO_uc010dcr.3_Silent_p.F199F	NM_006151	NP_006142	P22079	PERL_HUMAN	Homo sapiens lactoperoxidase (LPO), transcript variant 1, mRNA.	636					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						GCAAGCAGTTCCAGCAGATCC	0.642000														36			23		0	0	1	0	0
GPIHBP1	338328	broad.mit.edu	37	8	144297320	144297320	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:144297320C>T	uc003yxu.2	+	3	557	c.482C>T	c.(481-483)tCc>tTc	p.S161F		NM_178172	NP_835466	Q8IV16	HDBP1_HUMAN	Homo sapiens glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 (GPIHBP1), mRNA.	161					cholesterol homeostasis|intracellular protein transport|positive regulation of chylomicron remnant clearance|positive regulation of lipoprotein lipase activity|protein import|protein localization at cell surface|protein stabilization|response to heparin|triglyceride homeostasis	anchored to external side of plasma membrane|apical plasma membrane|basolateral plasma membrane|high-density lipoprotein particle|integral to membrane|intracellular	apolipoprotein binding|chylomicron binding|lipase binding|lipid binding|protein transmembrane transporter activity			lung(2)	2	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CGGGGCAGCTCCGAAACTGTG	0.697000														30			8		0	0	1	0	0
C12orf50	160419	broad.mit.edu	37	12	88376927	88376927	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:88376927C>T	uc001tam.1	-	11	1340	c.1172G>A	c.(1171-1173)cGa>cAa	p.R391Q		NM_152589	NP_689802	Q8NA57	CL050_HUMAN	Homo sapiens chromosome 12 open reading frame 50 (C12orf50), mRNA.	391								p.R391Q(2)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						AAAAGGAATTCGTTTTCGCCA	0.264000														48			11		0	0	1	0	0
CACNB3	784	broad.mit.edu	37	12	49218504	49218504	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:49218504C>T	uc001rsl.2	+	4	919	c.460C>T	c.(460-462)Ccg>Tcg	p.P154S	CACNB3_uc010slx.2_Missense_Mutation_p.P141S|CACNB3_uc010sly.2_Missense_Mutation_p.P141S|CACNB3_uc010slz.2_Missense_Mutation_p.P153S|CACNB3_uc001rsk.2_5'UTR|CACNB3_uc021qxm.1_Missense_Mutation_p.P113S	NM_000725	NP_000716	P54284	CACB3_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 3 subunit (CACNB3), transcript variant 1, mRNA.	154					axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Verapamil(DB00661)	ACGCTCCCCTCCGCCATCTCT	0.557000														33			6		0	0	1	0	0
EYA1	2138	broad.mit.edu	37	8	72129059	72129059	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:72129059G>A	uc003xyu.3	-	13	1868	c.1228C>T	c.(1228-1230)Cct>Tct	p.P410S	EYA1_uc003xyt.4_Missense_Mutation_p.P377S|EYA1_uc003xyr.4_Missense_Mutation_p.P375S|EYA1_uc010lzf.3_Missense_Mutation_p.P337S|EYA1_uc003xys.4_Missense_Mutation_p.P410S|EYA1_uc011lfe.2_Missense_Mutation_p.P404S|EYA1_uc003xyv.3_Missense_Mutation_p.P288S	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.	410					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GCTGCAGCAGGAAAGCCATCT	0.433000														17			13		0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16276733	16276733	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:16276733C>T	uc002den.4	-	15	2035	c.1998G>A	c.(1996-1998)ggG>ggA	p.G666G	ABCC6_uc010bvo.3_Non-coding_Transcript	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	666	ABC transporter 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		ACTTCCCTGCCCCCACTGGAC	0.627000														90			6		0	0	1	0	0
TBX22	50945	broad.mit.edu	37	X	79286048	79286048	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:79286048C>A	uc010nmg.1	+	8	1135	c.1001C>A	c.(1000-1002)cCt>cAt	p.P334H	TBX22_uc004edi.1_Missense_Mutation_p.P214H|TBX22_uc004edj.1_Missense_Mutation_p.P334H	NM_001109878	NP_001103349	Q9Y458	TBX22_HUMAN	Homo sapiens T-box 22 (TBX22), transcript variant 1, mRNA.	334					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GCCCCCTCTCCTTTGAACTCC	0.468000														11			23		6.21321e-17	6.32226e-17	1	1	0
ZNF382	84911	broad.mit.edu	37	19	37117868	37117868	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:37117868T>A	uc002oek.3	+	4	1182	c.1069T>A	c.(1069-1071)Tgt>Agt	p.C357S	ZNF382_uc010efa.3_Missense_Mutation_p.C308S|ZNF382_uc010efb.3_Missense_Mutation_p.C356S|ZNF382_uc002oel.3_Missense_Mutation_p.C356S	NM_032825	NP_116214	Q96SR6	ZN382_HUMAN	Homo sapiens zinc finger protein 382 (ZNF382), mRNA.	357	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TTGTATCGATTGTGGGAAGTC	0.468000														16			11		0	0	1	0	0
AURKC	6795	broad.mit.edu	37	19	57744905	57744905	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:57744905C>T	uc002qoe.3	+	4	702	c.513C>T	c.(511-513)aaC>aaT	p.N171N	AURKC_uc002qoc.3_Silent_p.N152N|AURKC_uc002qod.3_Silent_p.N137N|AURKC_uc010etv.3_Silent_p.N168N	NM_001015878	NP_003151	Q9UQB9	AURKC_HUMAN	Homo sapiens aurora kinase C (AURKC), transcript variant 1, mRNA.	171	Protein kinase.				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		AGCCAGAGAACCTGCTGCTGG	0.517000														35			9		0	0	1	0	0
DEAF1	10522	broad.mit.edu	37	11	674722	674723	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:674722_674723GG>AA	uc001lqq.1	-	9	2009_2010	c.1316_1317CC>TT	c.(1315-1317)ccc>cTT	p.P439L	DEAF1_uc009ycf.1_Non-coding_Transcript|DEAF1_uc021qbn.1_Missense_Mutation_p.P350L	NM_021008	NP_066288	O75398	DEAF1_HUMAN	Homo sapiens deformed epidermal autoregulatory factor 1 (Drosophila) (DEAF1), mRNA.	439	Pro-rich.				embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding	p.P439L(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		TGACCAACGCGGGAGGTGCCGC	0.564000														77			38		0	0	1	0	0
ZNF667	63934	broad.mit.edu	37	19	56952682	56952682	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:56952682C>T	uc002qne.3	-	6	2473	c.1682G>A	c.(1681-1683)gGg>gAg	p.G561E	ZNF667_uc010etl.3_Missense_Mutation_p.G343E|ZNF667_uc002qnd.3_Missense_Mutation_p.G561E|ZNF667_uc010etm.3_Missense_Mutation_p.G504E	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	Homo sapiens zinc finger protein 667 (ZNF667), transcript variant 1, mRNA.	561					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		AAATGCCTTCCCACATTCATT	0.413000														48			12		0	0	1	0	0
GPRC5C	55890	broad.mit.edu	37	17	72436372	72436372	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:72436372G>A	uc002jkp.3	+	1	1103	c.592G>A	c.(592-594)Ggc>Agc	p.G198S	GPRC5C_uc002jkq.3_Intron|GPRC5C_uc002jkr.3_Missense_Mutation_p.G165S|GPRC5C_uc002jkt.3_Missense_Mutation_p.G153S|GPRC5C_uc002jku.3_5'Flank	NM_022036	NP_071319	Q9NQ84	GPC5C_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member C (GPRC5C), transcript variant 1, mRNA.	153						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						CGGGCCCCGGGGCTGGGTGAT	0.602000														129			14		0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102045139	102045139	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:102045139G>A	uc001tii.3	+	13	1559	c.1419G>A	c.(1417-1419)gaG>gaA	p.E473E	MYBPC1_uc001tif.2_Silent_p.E486E|MYBPC1_uc001tig.3_Silent_p.E498E|MYBPC1_uc010svr.2_Silent_p.E473E|MYBPC1_uc010svs.2_Silent_p.E473E|MYBPC1_uc001tij.3_Silent_p.E473E|MYBPC1_uc010svt.2_Silent_p.E461E|MYBPC1_uc010svu.2_Silent_p.E454E|MYBPC1_uc001tik.3_Silent_p.E447E|MYBPC1_uc001tih.3_Silent_p.E498E|MYBPC1_uc010svq.2_Silent_p.E460E	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	Homo sapiens myosin binding protein C, slow type (MYBPC1), transcript variant 3, mRNA.	473	Ig-like C2-type 4.				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						CTGTTCAGGAGAGTGACCGTC	0.433000														114			33		0	0	1	0	0
MGAT5B	146664	broad.mit.edu	37	17	74934147	74934147	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:74934147C>T	uc002jti.3	+	10	1636	c.1533C>T	c.(1531-1533)ccC>ccT	p.P511P	MGAT5B_uc002jth.3_Silent_p.P500P	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B (MGAT5B), transcript variant 2, mRNA.	502						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCCAGCGGCCCCCCGAGGTGC	0.582000														59			30		0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12342936	12342936	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:12342936T>G	uc001atv.3	+	20	4918	c.4777T>G	c.(4777-4779)Ttg>Gtg	p.L1593V	VPS13D_uc001atw.3_Missense_Mutation_p.L1593V|VPS13D_uc001atx.3_Missense_Mutation_p.L781V	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	1593					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGAGAATGGATTGTTCAGCCA	0.468000														70			23		0	0	1	0	0
RAP1A	5906	broad.mit.edu	37	1	112234012	112234012	+	Silent	SNP	T	G	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:112234012T>G	uc001ebi.3	+	1	134	c.30T>G	c.(28-30)ggT>ggG	p.G10G	RAP1A_uc001ebk.3_Silent_p.G10G|RAP1A_uc001ebl.3_Silent_p.G10G	NM_002884	NP_002875	P62834	RAP1A_HUMAN	Homo sapiens RAP1A, member of RAS oncogene family (RAP1A), transcript variant 2, mRNA.	10					activation of MAPKK activity|blood coagulation|energy reserve metabolic process|nerve growth factor receptor signaling pathway|regulation of insulin secretion	cytosol|plasma membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(81;6.79e-06)|all_epithelial(167;2.42e-05)|all_lung(203;0.000105)|Lung NSC(277;0.00021)		Lung(183;0.0183)|Colorectal(144;0.0418)|LUSC - Lung squamous cell carcinoma(189;0.0966)|all cancers(265;0.098)|Epithelial(280;0.0981)|COAD - Colon adenocarcinoma(174;0.141)		TGGTCCTTGGTTCAGGAGGCG	0.368000														43			6		0	0	1	0	0
YWHAH	7533	broad.mit.edu	37	22	32352173	32352173	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:32352173C>T	uc003alz.3	+	1	376	c.135C>T	c.(133-135)ctC>ctT	p.L45L	YWHAH_uc003ama.3_5'UTR|YWHAH_uc010gwm.3_Silent_p.L32L	NM_003405	NP_003396	Q04917	1433F_HUMAN	Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide (YWHAH), mRNA.	45					glucocorticoid catabolic process|glucocorticoid receptor signaling pathway|intracellular protein transport|negative regulation of dendrite morphogenesis|positive regulation of transcription, DNA-dependent|regulation of synaptic plasticity	cytoplasm	enzyme binding|glucocorticoid receptor binding|insulin-like growth factor receptor binding|protein domain specific binding			breast(1)|central_nervous_system(1)|large_intestine(1)|upper_aerodigestive_tract(1)	4						GAAATCTCCTCTCTGTGGCCT	0.433000														21			15		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9082654	9082654	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:9082654G>A	uc002mkp.3	-	0	9365	c.9161C>T	c.(9160-9162)tCa>tTa	p.S3054L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3055	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						AAGAAATAGTGAAGTCTTTCT	0.478000														49			13		0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66913580	66913580	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:66913580A>T	uc002jhq.3	-	16	2400	c.2060T>A	c.(2059-2061)tTt>tAt	p.F687Y	ABCA8_uc002jhp.3_Missense_Mutation_p.F647Y|ABCA8_uc010wqq.2_Missense_Mutation_p.F687Y|ABCA8_uc010wqr.2_Missense_Mutation_p.F626Y|ABCA8_uc002jhr.3_Missense_Mutation_p.F687Y	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	647						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TTGGGAGAGAAATACTTTCCT	0.388000														105			15		0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	2928890	2928890	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:2928890G>A	uc003bpc.3	+	9	1261	c.922G>A	c.(922-924)Gga>Aga	p.G308R	CNTN4_uc003bpb.1_5'UTR|CNTN4_uc021wsg.1_Missense_Mutation_p.G308R|CNTN4_uc003bpd.1_Missense_Mutation_p.G308R	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	308	Ig-like C2-type 3.				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)		TGTAGCAAGGGGACAGCTAAC	0.378000														32			4		0	0	1	0	0
OR52M1	119772	broad.mit.edu	37	11	4567192	4567192	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:4567192A>C	uc010qyf.2	+	0	772	c.772A>C	c.(772-774)Att>Ctt	p.I258L		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA.	258					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)		TTATGTTCCCATTGCTGTTTC	0.517000														45			24		0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	124993032	124993032	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:124993032C>T	uc003yqw.3	+	10	1597	c.1391C>T	c.(1390-1392)tCg>tTg	p.S464L		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	464						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GAGGTGGAATCGTTCGATGTC	0.493000											OREG0018964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		9			9		0	0	1	0	0
MYBPC3	4607	broad.mit.edu	37	11	47372994	47372994	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:47372994C>T	uc021qis.1	-	1	143	c.88G>A	c.(88-90)Gag>Aag	p.E30K	MYBPC3_uc021qir.1_5'UTR	NM_000256	NP_000247	Q14896	MYPC3_HUMAN	Homo sapiens myosin binding protein C, cardiac (MYBPC3), mRNA.	30					cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	ATPase activator activity|actin binding|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GTCTCGGCCTCGAACACGGCA	0.652000														6			8		0	0	1	0	0
SLC22A7	10864	broad.mit.edu	37	6	43266471	43266471	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:43266471C>T	uc021yzt.1	+	0	474	c.375C>T	c.(373-375)tcC>tcT	p.S125S	SLC22A7_uc010jyl.1_Silent_p.S125S|SLC22A7_uc003ous.3_Silent_p.S125S|SLC22A7_uc003out.3_Silent_p.S125S	NM_153320	NP_696961	Q9Y694	S22A7_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 7 (SLC22A7), transcript variant 2, mRNA.	125						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity	p.F124L(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			CAGAATTCTCCTCTACCATTG	0.552000														38			7		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8518119	8518119	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:8518119G>A	uc003zkk.3	-	20	2015	c.1272C>T	c.(1270-1272)gtC>gtT	p.V424V	PTPRD_uc003zkp.3_Silent_p.V424V|PTPRD_uc003zkq.3_Silent_p.V424V|PTPRD_uc003zkr.3_Silent_p.V418V|PTPRD_uc003zks.3_Silent_p.V414V|PTPRD_uc022bdj.1_Silent_p.V421V	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	424	Fibronectin type-III 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTCGTGCCTGGACATCCCTCG	0.502000										TSP Lung(15;0.13)				34			28		0	0	1	0	0
ZNF202	7753	broad.mit.edu	37	11	123601499	123601499	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:123601499G>A	uc001pzd.1	-	3	498	c.98C>T	c.(97-99)tCt>tTt	p.S33F	ZNF202_uc001pzc.1_5'UTR|ZNF202_uc001pze.1_Missense_Mutation_p.S33F|ZNF202_uc001pzf.1_Missense_Mutation_p.S33F	NM_003455	NP_003446	O95125	ZN202_HUMAN	Homo sapiens zinc finger protein 202 (ZNF202), mRNA.	33					lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		CTGTAAGACAGACTCTGGCCG	0.537000														27			17		0	0	1	0	0
DVL2	1856	broad.mit.edu	37	17	7132919	7132919	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:7132919G>A	uc002gez.1	-	5	1017	c.735C>T	c.(733-735)ccC>ccT	p.P245P	DVL2_uc010vtr.1_Silent_p.P239P|DVL2_uc010vts.1_Silent_p.P147P|DVL2_uc010clz.1_3'UTR	NM_004422	NP_004413	O14641	DVL2_HUMAN	Homo sapiens dishevelled, dsh homolog 2 (Drosophila) (DVL2), mRNA.	245					canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						TCTCCAGGCGGGGTGGCCTCT	0.667000														61			30		0	0	1	0	0
CYP1A2	1544	broad.mit.edu	37	15	75042488	75042488	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:75042488C>T	uc002ayr.1	+	1	473	c.409C>T	c.(409-411)Cgg>Tgg	p.R137W		NM_000761	NP_000752	P05177	CP1A2_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA.	137					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding	p.R136H(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	GGCTGCCCGCCGGCGCCTGGC	0.612000														250			31		0	0	1	0	0
FFAR3	2865	broad.mit.edu	37	19	35863100	35863100	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:35863100C>T	uc021usn.1	+	0	844	c.839C>T	c.(838-840)tCc>tTc	p.S280F		NM_005304	NP_005295	O14843	FFAR3_HUMAN	Homo sapiens free fatty acid receptor 3 (FFAR3), mRNA.	280						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			TACTTCTCCTCCTCCGGGTTC	0.582000														11			16		0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61323052	61323052	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr18:61323052C>T	uc002lji.3	-	7	1156	c.1012G>A	c.(1012-1014)Gag>Aag	p.E338K	SERPINB3_uc002ljg.3_Intron|SERPINB3_uc010dqa.3_Missense_Mutation_p.E286K	NM_006919	NP_008850	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA.	338					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	p.E338Q(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						GCTCCCTCCTCTGTAACCTCC	0.517000														40			26		0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7586098	7586098	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:7586098C>T	uc010sge.2	-	2	343	c.317G>A	c.(316-318)aGa>aAa	p.R106K	CD163L1_uc001qsy.3_Missense_Mutation_p.R106K	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	106	SRCR 1.					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						TTTTCCATGTCTAGTCACGGC	0.448000														48			25		0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121219213	121219213	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:121219213G>A	uc003yox.3	+	9	1336	c.1071G>A	c.(1069-1071)acG>acA	p.T357T	COL14A1_uc003yoy.3_Silent_p.T35T|COL14A1_uc010mde.1_Silent_p.T35T	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	357	Fibronectin type-III 2.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GGCCGCCTACGGAGTTGATTA	0.403000														12			8		0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48650203	48650203	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:48650203C>T	uc002irk.1	+	5	1407	c.1035C>T	c.(1033-1035)atC>atT	p.I345I	CACNA1G_uc002iri.1_Silent_p.I345I|CACNA1G_uc002irj.1_Silent_p.I345I|CACNA1G_uc002irl.1_Silent_p.I345I|CACNA1G_uc002irm.1_Silent_p.I345I|CACNA1G_uc002irn.1_Silent_p.I345I|CACNA1G_uc002iro.1_Silent_p.I345I|CACNA1G_uc002irp.1_Silent_p.I345I|CACNA1G_uc002irq.1_Silent_p.I345I|CACNA1G_uc002irr.1_Silent_p.I345I|CACNA1G_uc002irs.1_Silent_p.I345I|CACNA1G_uc002irt.1_Silent_p.I345I|CACNA1G_uc002iru.1_Silent_p.I345I|CACNA1G_uc002irv.1_Silent_p.I345I|CACNA1G_uc002irw.1_Silent_p.I345I|CACNA1G_uc002irx.1_Silent_p.I258I|CACNA1G_uc002iry.1_Silent_p.I258I|CACNA1G_uc002isg.1_Silent_p.I258I|CACNA1G_uc002ish.1_Silent_p.I258I|CACNA1G_uc002isi.1_Silent_p.I258I|CACNA1G_uc002irz.1_Silent_p.I258I|CACNA1G_uc002isa.1_Silent_p.I258I|CACNA1G_uc002isd.1_Silent_p.I258I|CACNA1G_uc002isb.1_Silent_p.I258I|CACNA1G_uc002isc.1_Silent_p.I258I|CACNA1G_uc002ise.1_Silent_p.I258I|CACNA1G_uc002isf.1_Silent_p.I258I	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	345					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)	ATGCCTGGATCGCCATCTTCC	0.617000														62			9		0	0	1	0	0
WDR17	116966	broad.mit.edu	37	4	177098264	177098264	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:177098264G>A	uc003iuj.3	+	28	3925	c.3622G>A	c.(3622-3624)Gag>Aag	p.E1208K	WDR17_uc003ium.4_Missense_Mutation_p.E1169K|WDR17_uc003iul.2_Intron|WDR17_uc003iun.3_Missense_Mutation_p.E419K	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	Homo sapiens WD repeat domain 17 (WDR17), transcript variant 1, mRNA.	1208										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		ATATCTTTCTGAGGAATTGGA	0.363000														27			8		0	0	1	0	0
TDP1	55775	broad.mit.edu	37	14	90429700	90429700	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:90429700C>T	uc001xxy.3	+	2	541	c.242C>T	c.(241-243)tCc>tTc	p.S81F	TDP1_uc010atm.3_Non-coding_Transcript|TDP1_uc001xxz.3_Missense_Mutation_p.S81F|TDP1_uc010atn.3_Missense_Mutation_p.S81F|TDP1_uc001xya.3_5'UTR|TDP1_uc001xyb.3_Non-coding_Transcript	NM_018319	NP_060789	Q9NUW8	TYDP1_HUMAN	Homo sapiens tyrosyl-DNA phosphodiesterase 1 (TDP1), transcript variant 1, mRNA.	81					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		AAAAGCGGTTCCCAGGAGGAC	0.488000								Repair of DNA-protein crosslinks						41			57		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152560826	152560826	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:152560826G>A	uc021zhb.1	-	105	20132	c.19909C>T	c.(19909-19911)Ctg>Ttg	p.L6637L	SYNE1_uc003qos.4_Silent_p.L1161L|SYNE1_uc003qot.4_Silent_p.L6566L|SYNE1_uc003qou.4_Silent_p.L6637L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	6637					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.L6637L(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)		TGAGATTCCAGGCCCTGAAAG	0.423000										HNSCC(10;0.0054)				10			12		0	0	1	0	0
PLD5	200150	broad.mit.edu	37	1	242511437	242511437	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:242511437G>A	uc001hzn.2	-	2	524	c.297C>T	c.(295-297)ctC>ctT	p.L99L	PLD5_uc021pll.1_Missense_Mutation_p.S5F|PLD5_uc001hzl.4_Silent_p.L37L|PLD5_uc001hzm.4_5'UTR|PLD5_uc001hzo.2_Missense_Mutation_p.S5F	NM_152666	NP_001182741	Q8N7P1	PLD5_HUMAN	Homo sapiens phospholipase D family, member 5 (PLD5), transcript variant 1, mRNA.	99						integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			TTTTTTCTGAGAGTCCATCCT	0.453000														58			25		0	0	1	0	0
DDX46	9879	broad.mit.edu	37	5	134102706	134102706	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:134102706C>T	uc003kzw.3	+	2	474	c.306C>T	c.(304-306)tcC>tcT	p.S102S	DDX46_uc003kzv.1_Intron	NM_014829	NP_055644	Q7L014	DDX46_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 (DDX46), mRNA.	102	Arg-rich.				RNA splicing|mRNA processing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCCGGCGATCCCGATCCTCCA	0.507000														28			5		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140249718	140249718	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:140249718G>A	uc003lia.2	+	0	1888	c.1030G>A	c.(1030-1032)Gat>Aat	p.D344N	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_Missense_Mutation_p.D344N	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	360	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)			GGACACCAACGATAACTCTCC	0.512000														24			16		0	0	1	0	0
UGGT2	55757	broad.mit.edu	37	13	96485297	96485297	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr13:96485297G>A	uc001vmt.3	-	37	4582	c.4412C>T	c.(4411-4413)cCc>cTc	p.P1471L	UGGT2_uc001vms.3_Missense_Mutation_p.P191L	NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 2 (UGGT2), mRNA.	1471	Glucosyltransferase.				post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TTTTGTTTTGGGATTATTGCA	0.358000														6			5		0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62028952	62028953	+	Missense_Mutation	DNP	GT	TA	TA			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:62028952_62028953GT>TA	uc002jds.1	-	13	2761_2762	c.2684_2685AC>TA	c.(2683-2685)aac>aTA	p.N895I		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	895					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GGCCCATGTGGTTCAGGATGTG	0.639000														34			10		0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104449477	104449478	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:104449477_104449478GG>AA	uc004bbp.2	-	1	1305_1306	c.704_705CC>TT	c.(703-705)ccc>cTT	p.P235L	GRIN3A_uc004bbq.1_Missense_Mutation_p.P235L	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	235					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GTAGGTGAAGGGGATTCTGTAT	0.347000														46			16		0	0	1	0	0
AKAP1	8165	broad.mit.edu	37	17	55191864	55191864	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:55191864C>T	uc010wnl.2	+	6	2430	c.2148C>T	c.(2146-2148)aaC>aaT	p.N716N	AKAP1_uc002iux.3_Silent_p.N716N|AKAP1_uc021uak.1_Silent_p.N716N|AKAP1_uc010dcm.3_Silent_p.N716N|AKAP1_uc002iuy.3_Non-coding_Transcript	NM_001242902	NP_001229831	Q92667	AKAP1_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 1 (AKAP1), transcript variant 2, mRNA.	716					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	RNA binding|protein binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					TTGTGGTCAACCAGGTCAATG	0.562000											OREG0024595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		54			22		0	0	1	0	0
BAG6	7917	broad.mit.edu	37	6	31612751	31612752	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:31612751_31612752GG>AA	uc003nvg.4	-	9	1672_1673	c.1358_1359CC>TT	c.(1357-1359)ccc>cTT	p.P453L	BAG6_uc003nvf.4_Missense_Mutation_p.P447L|BAG6_uc003nvi.4_Missense_Mutation_p.P447L|BAG6_uc003nvh.4_Missense_Mutation_p.P447L|BAG6_uc011dnw.2_Missense_Mutation_p.P447L|BAG6_uc011dnx.2_Missense_Mutation_p.P447L	NM_004639	NP_004630	P46379	BAG6_HUMAN	Homo sapiens BCL2-associated athanogene 6 (BAG6), transcript variant 1, mRNA.	453	4 X 29 AA approximate repeats.|Pro-rich.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						TCATGACCACGGGTTCCACACT	0.599000														199			50		0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142639603	142639603	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:142639603C>T	uc003wcb.3	-	17	2165	c.1955G>A	c.(1954-1956)aGg>aAg	p.R652K		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	652					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CCGTAACAGCCTCTTGCTGTA	0.592000														6			11		0	0	1	0	0
RIMS3	9783	broad.mit.edu	37	1	41094951	41094951	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:41094951G>A	uc001cfu.1	-	5	1031	c.566C>T	c.(565-567)tCc>tTc	p.S189F	RIMS3_uc001cfv.1_Missense_Mutation_p.S189F	NM_014747	NP_055562	Q9UJD0	RIMS3_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 3 (RIMS3), mRNA.	189	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)			ACCTGGGAGGGATTTGGAGCC	0.587000														53			77		0	0	1	0	0
HLA-DQA2	3118	broad.mit.edu	37	6	32713022	32713022	+	Missense_Mutation	SNP	G	A	A	rs52830651		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:32713022G>A	uc003obx.3	+	1	227	c.169G>A	c.(169-171)Gag>Aag	p.E57K		NM_020056	NP_064440	P01906	DQA2_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ alpha 2 (HLA-DQA2), mRNA.	57	Alpha-1.				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|endosome membrane|integral to plasma membrane|lysosomal membrane	MHC class II receptor activity			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGGAGACGAGGAGTTCTATGT	0.488000														99			20		0	0	1	0	0
PDZRN3	23024	broad.mit.edu	37	3	73453413	73453413	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:73453413G>A	uc003dpl.1	-	3	1148	c.1052C>T	c.(1051-1053)tCt>tTt	p.S351F	PDZRN3_uc011bgh.1_Missense_Mutation_p.S8F|PDZRN3_uc010hoe.1_Missense_Mutation_p.S49F|PDZRN3_uc011bgf.1_Missense_Mutation_p.S68F|PDZRN3_uc011bgg.1_Missense_Mutation_p.S71F	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	Homo sapiens PDZ domain containing ring finger 3 (PDZRN3), mRNA.	351							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CACCAGCTGAGACTCTGATGG	0.537000														46			18		0	0	1	0	0
SETD1A	9739	broad.mit.edu	37	16	30977133	30977133	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:30977133C>T	uc002ead.1	+	7	2617	c.1931C>T	c.(1930-1932)cCt>cTt	p.P644L		NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	644	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|chromosome|nuclear speck	RNA binding|histone-lysine N-methyltransferase activity|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CCGCCGCCCCCTGAGTACCCC	0.652000														16			20		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10469098	10469098	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:10469098G>A	uc003wtc.3	-	3	2739	c.2510C>T	c.(2509-2511)gCc>gTc	p.A837V		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	837					intracellular signal transduction			p.E836K(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCCCCGCTGGGCCTCTTGGGC	0.711000														9			10		0	0	1	0	0
NETO1	81832	broad.mit.edu	37	18	70450954	70450954	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr18:70450954C>T	uc002lkw.3	-	6	1111	c.827G>A	c.(826-828)cGa>cAa	p.R276Q	NETO1_uc002lky.2_Missense_Mutation_p.R276Q	NM_001201465	NP_001188394	Q8TDF5	NETO1_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA.	276	CUB 2.				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)		TCGGCTGTTTCGACTGCCCTC	0.463000														44			50		0	0	1	0	0
ATP1A4	480	broad.mit.edu	37	1	160151741	160151741	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:160151741G>A	uc001fve.4	+	19	3368	c.2889G>A	c.(2887-2889)ggG>ggA	p.G963G	ATP1A4_uc001fvf.4_Non-coding_Transcript|ATP1A4_uc001fvg.3_Silent_p.G466G|ATP1A4_uc001fvh.3_Silent_p.G99G	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 4 polypeptide (ATP1A4), transcript variant 1, mRNA.	963					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TAATATTTGGGATCCTGGAGG	0.532000														142			69		0	0	1	0	0
A4GALT	53947	broad.mit.edu	37	22	43089247	43089247	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:43089247G>A	uc003bdb.3	-	2	972	c.711C>T	c.(709-711)ttC>ttT	p.F237F	A4GALT_uc021wqo.1_Silent_p.F237F|A4GALT_uc021wqp.1_Silent_p.F237F|A4GALT_uc010gzd.3_Silent_p.F237F|A4GALT_uc021wqq.1_Silent_p.F237F	NM_017436	NP_059132	Q9NPC4	A4GAT_HUMAN	Homo sapiens alpha 1,4-galactosyltransferase (A4GALT), mRNA.	237					glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity			NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						AGTGGTCCACGAAGTCCCGCA	0.657000														18			6		0	0	1	0	0
ARMC9	80210	broad.mit.edu	37	2	232143139	232143139	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:232143139C>G	uc002vrq.4	+	15	1631	c.1519C>G	c.(1519-1521)Ctt>Gtt	p.L507V	ARMC9_uc002vrp.4_Missense_Mutation_p.L507V|ARMC9_uc002vrr.1_Non-coding_Transcript	NM_025139	NP_079415	Q7Z3E5	ARMC9_HUMAN	Homo sapiens armadillo repeat containing 9 (ARMC9), mRNA.	507							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		GCTCAAAGTCCTTTCGGATCT	0.517000														23			69		0	0	1	0	0
HSP90B3P	343477	broad.mit.edu	37	1	92108427	92108427	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:92108427C>T	uc010osx.2	+	2	454	c.454C>T	c.(454-456)Cta>Tta	p.L152L						Homo sapiens heat shock protein 90kDa beta (Grp94), member 3, pseudogene (HSP90B3P), non-coding RNA.																		TCCACGTGGTCTATTTGATGA	0.368000														10			5		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179408964	179408964	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:179408964C>T	uc021vsy.1	-	293	88513	c.88288G>A	c.(88288-88290)Gaa>Aaa	p.E29430K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E23125K|TTN_uc021vta.1_Missense_Mutation_p.E23058K|TTN_uc021vtb.1_Missense_Mutation_p.E22933K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	30357	Fibronectin type-III 114.						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)			GCAATTGATTCGCTGTATTCG	0.383000														9			29		0	0	1	0	0
CXXC11	285093	broad.mit.edu	37	2	242815481	242815481	+	Splice_Site	SNP	A	C	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:242815481A>C	uc010fzu.1	+	2	1798	c.1775_splice	c.e2+1			NM_173821	NP_776182	Q14D33	CB085_HUMAN	Homo sapiens CXXC finger protein 11 (CXXC11), mRNA.							integral to membrane											CCTCTGAGACACCCCCCAACC	0.697000														21			9		0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92764266	92764266	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:92764266G>A	uc003umh.1	-	4	2235	c.1019C>T	c.(1018-1020)tCa>tTa	p.S340L	SAMD9L_uc003umj.1_Missense_Mutation_p.S340L|SAMD9L_uc003umi.1_Missense_Mutation_p.S340L|SAMD9L_uc010lfb.1_Missense_Mutation_p.S340L|SAMD9L_uc003umk.1_Missense_Mutation_p.S340L|SAMD9L_uc010lfc.1_Missense_Mutation_p.S340L|SAMD9L_uc010lfd.1_Missense_Mutation_p.S340L|SAMD9L_uc022ahh.1_Missense_Mutation_p.S340L	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	340								p.L339F(1)|p.L339I(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TACAAACAGTGAAAGATTTTG	0.333000														62			50		0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5215312	5215312	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:5215312G>A	uc002mbv.3	-	27	4540	c.4306C>T	c.(4306-4308)Cag>Tag	p.Q1436*	PTPRS_uc002mbu.1_Nonsense_Mutation_p.Q1005*|PTPRS_uc010xin.2_Nonsense_Mutation_p.Q978*|PTPRS_uc002mbw.3_Nonsense_Mutation_p.Q1398*|PTPRS_uc002mbx.3_Nonsense_Mutation_p.Q993*|PTPRS_uc002mby.3_Nonsense_Mutation_p.Q989*	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.	1436	Tyrosine-protein phosphatase 1.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		TCAATGGGCTGGAGGATGACA	0.557000														22			10		0	0	1	0	0
LIMK2	3985	broad.mit.edu	37	22	31669487	31669487	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:31669487C>T	uc003akh.3	+	13	1753	c.1608C>T	c.(1606-1608)ctC>ctT	p.L536L	LIMK2_uc003aki.3_Silent_p.L290L|LIMK2_uc003akj.3_Silent_p.L515L|LIMK2_uc003akk.3_Silent_p.L515L|LIMK2_uc011aln.2_Silent_p.L453L	NM_005569	NP_005560	P53671	LIMK2_HUMAN	Homo sapiens LIM domain kinase 2 (LIMK2), transcript variant 2a, mRNA.	536	Protein kinase.					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						GGATCGTTCTCTGTGAGGTGA	0.552000											OREG0026477	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		28			5		0	0	1	0	0
ULK1	8408	broad.mit.edu	37	12	132398367	132398367	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:132398367C>T	uc001uje.3	+	14	1501	c.1233C>T	c.(1231-1233)tcC>tcT	p.S411S		NM_003565	NP_003556	O75385	ULK1_HUMAN	Homo sapiens unc-51-like kinase 1 (C. elegans) (ULK1), mRNA.	411	Interaction with GABARAP and GABARAPL2.				autophagy|protein localization|regulation of autophagy	ULK1-ATG13-FIP200 complex|autophagic vacuole|cytosol|pre-autophagosomal structure	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		GCAGCAGCTCCCCCAGTCCCT	0.687000														25			7		0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027539	37027539	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:37027539C>T	uc004ddl.2	+	0	1108	c.1056C>T	c.(1054-1056)tcC>tcT	p.S352S		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	352								p.V351M(1)		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						CTGGAGTGTCCCATCTCTGCC	0.632000														12			36		0	0	1	0	0
NEK10	152110	broad.mit.edu	37	3	27326381	27326381	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:27326381C>T	uc003cdt.2	-	21	2135	c.1861G>A	c.(1861-1863)Gaa>Aaa	p.E621K	NEK10_uc003cds.1_Missense_Mutation_p.E18K	NM_199347	NP_955379	Q6ZWH5	NEK10_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 10 (NEK10), mRNA.	621	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TGATGTTTTTCCTTCAAAGAA	0.328000														22			25		0	0	1	0	0
TRHR	7201	broad.mit.edu	37	8	110099751	110099751	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:110099751G>A	uc003ymz.4	+	0	99	c.10G>A	c.(10-12)Gag>Aag	p.E4K		NM_003301	NP_003292	P34981	TRFR_HUMAN	Homo sapiens thyrotropin-releasing hormone receptor (TRHR), mRNA.	4						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			GATGGAAAACGAGACAGTCAG	0.458000														35			3		0	0	1	0	0
FMOD	2331	broad.mit.edu	37	1	203311547	203311547	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:203311547C>T	uc001gzr.3	-	2	1191	c.1055G>A	c.(1054-1056)gGg>gAg	p.G352E		NM_002023	NP_002014	Q06828	FMOD_HUMAN	Homo sapiens fibromodulin (FMOD), mRNA.	352					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			GATCTCGTTCCCGTCCAGGCG	0.647000											OREG0014119	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		37			7		0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91674419	91674419	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:91674419C>T	uc003ulg.3	+	20	5485	c.5260C>T	c.(5260-5262)Ctt>Ttt	p.L1754F	AKAP9_uc003ulf.3_Missense_Mutation_p.L1754F|AKAP9_uc003uli.3_Missense_Mutation_p.L1379F	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	1766					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TCGCCATGTCCTTGGGATTCT	0.423000			T	BRAF	papillary thyroid									104			25		0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72189840	72189840	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:72189840G>A	uc002atl.4	-	24	5477	c.5004C>T	c.(5002-5004)ccC>ccT	p.P1668P	MYO9A_uc010biq.3_Silent_p.P1288P|MYO9A_uc002atn.1_Silent_p.P1649P|MYO9A_uc002atk.3_Silent_p.P392P|MYO9A_uc002atm.1_Silent_p.P392P	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	1668	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGAAGAAAATGGGCCTAGCAT	0.368000														53			11		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82475947	82475947	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:82475947G>A	uc003uhx.2	-	11	14056	c.13767C>T	c.(13765-13767)gaC>gaT	p.D4589D	PCLO_uc003uhv.2_Silent_p.D4589D|PCLO_uc003uht.1_Silent_p.D40D|PCLO_uc003uhu.1_Silent_p.D19D	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4477	C2 1.				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						GCATATTGAGGTCCCTAAAAA	0.323000														11			8		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138159	126138159	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:126138159C>T	uc001uhe.1	+	8	2148	c.2140C>T	c.(2140-2142)Cct>Tct	p.P714S	TMEM132B_uc001uhf.1_Missense_Mutation_p.P226S	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	714						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TTCGGTGACACCTTTAGACAT	0.383000														67			10		0	0	1	0	0
MAGEC2	51438	broad.mit.edu	37	X	141291407	141291407	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:141291407C>T	uc022cfj.1	-	0	367	c.367G>A	c.(367-369)Gat>Aat	p.D123N	MAGEC2_uc004fbu.2_Missense_Mutation_p.D123N	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.	123						cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					GTGCCTGTATCCTCCCCTTTC	0.537000										HNSCC(46;0.14)				46			32		0	0	1	0	0
GPBP1	65056	broad.mit.edu	37	5	56527021	56527021	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:56527021C>T	uc003jrk.4	+	3	362	c.305C>T	c.(304-306)tCc>tTc	p.S102F	GPBP1_uc003jrh.4_Missense_Mutation_p.S95F|GPBP1_uc003jri.4_5'UTR|GPBP1_uc003jrj.4_Missense_Mutation_p.S102F|GPBP1_uc021xyv.1_5'UTR	NM_001127236	NP_001190175	Q86WP2	GPBP1_HUMAN	Homo sapiens GC-rich promoter binding protein 1 (GPBP1), transcript variant 2, mRNA.	95					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		GGTGGAAGTTCCCGTTCTCGT	0.408000														15			13		0	0	1	0	0
KCNA1	3736	broad.mit.edu	37	12	5020958	5020958	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:5020958G>A	uc001qnh.3	+	1	1519	c.414G>A	c.(412-414)aaG>aaA	p.K138K	KCNA1_uc021qts.1_Silent_p.K138K	NM_000217	NP_000208	Q09470	KCNA1_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) (KCNA1), mRNA.	138					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GCTTCATCAAGGAGGAGGAGC	0.632000														63			13		0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28459414	28459414	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:28459414G>A	uc001zbj.3	-	40	6469	c.6363C>T	c.(6361-6363)tcC>tcT	p.S2121S		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	2121					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCCTCAGCGTGGACTCTGAGG	0.672000														34			16		0	0	1	0	0
KIAA1199	57214	broad.mit.edu	37	15	81171181	81171181	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:81171181G>A	uc002bfw.1	+	2	474	c.214G>A	c.(214-216)Gtc>Atc	p.V72I	KIAA1199_uc010unn.1_Missense_Mutation_p.V72I	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	Homo sapiens KIAA1199 (KIAA1199), mRNA.	72	G8.									breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TTCTGCCACGGTCTATTCCAT	0.572000														75			14		0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16261246	16261246	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:16261246C>T	uc001axk.1	+	10	8715	c.8511C>T	c.(8509-8511)atC>atT	p.I2837I	SPEN_uc010obp.1_Silent_p.I2796I	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	2837	Interaction with RBPSUH (By similarity).				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)		TCAGCCAGATCCCCCCGGCCA	0.572000														22			26		0	0	1	0	0
ZNF562	54811	broad.mit.edu	37	19	9764272	9764272	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:9764272C>T	uc002mly.3	-	5	850	c.634G>A	c.(634-636)Ggc>Agc	p.G212S	ZNF562_uc010xks.2_Missense_Mutation_p.G212S|ZNF562_uc002mlx.3_Missense_Mutation_p.G140S|ZNF562_uc010xkt.2_Missense_Mutation_p.G175S|ZNF562_uc010xku.2_Missense_Mutation_p.G143S|ZNF562_uc010xkv.1_Missense_Mutation_p.G211S|ZNF562_uc010xkw.1_Missense_Mutation_p.G96S	NM_001130031	NP_001123504	Q6V9R5	ZN562_HUMAN	Homo sapiens zinc finger protein 562 (ZNF562), transcript variant 1, mRNA.	212					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						TACTTAAAGCCTTTTCCACAT	0.408000														25			8		0	0	1	0	0
F2RL1	2150	broad.mit.edu	37	5	76128895	76128895	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:76128895T>A	uc003keo.3	+	1	638	c.463T>A	c.(463-465)Ttc>Atc	p.F155I		NM_005242	NP_005233	P55085	PAR2_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor-like 1 (F2RL1), mRNA.	155					blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity	p.F155L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		TATTGGCTTTTTCTATGGCAA	0.478000														225			64		0	0	1	0	0
OXA1L	5018	broad.mit.edu	37	14	23235899	23235899	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:23235899C>T	uc001wgn.2	+	0	169	c.169C>T	c.(169-171)Ctt>Ttt	p.L57F	OXA1L_uc010tnc.2_Missense_Mutation_p.L57F|OXA1L_uc001wgp.2_5'Flank	NM_005015	NP_005006	Q15070	OXA1L_HUMAN	Homo sapiens oxidase (cytochrome c) assembly 1-like (OXA1L), nuclear gene encoding mitochondrial protein, mRNA.	0					aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex	protein homodimerization activity|ribosome binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		AGCAAGTCCTCTTCCGGGCAA	0.607000														86			40		0	0	1	0	0
CCDC62	84660	broad.mit.edu	37	12	123262119	123262119	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:123262119C>T	uc001udc.3	+	1	280	c.118C>T	c.(118-120)Cga>Tga	p.R40*	CCDC62_uc010tah.2_Non-coding_Transcript|CCDC62_uc001ude.3_5'UTR	NM_201435	NP_958843	Q6P9F0	CCD62_HUMAN	Homo sapiens coiled-coil domain containing 62 (CCDC62), transcript variant 2, mRNA.	40						cytoplasm|nucleus				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		ATTAAAAGATCGAGATAAAGA	0.448000														24			5		0	0	1	0	0
PDILT	204474	broad.mit.edu	37	16	20387498	20387498	+	Silent	SNP	G	A	A	rs140175402	byFrequency	TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:20387498G>A	uc002dhc.1	-	3	658	c.435C>T	c.(433-435)gtC>gtT	p.V145V		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA.	145					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			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						TCAACCAAACGACTAAGGCAG	0.458000														20			25		0	0	1	0	0
GAD1	2571	broad.mit.edu	37	2	171716373	171716373	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:171716373G>A	uc002ugi.3	+	16	2188	c.1766G>A	c.(1765-1767)aGa>aAa	p.R589K	GAD1_uc010fqc.3_Missense_Mutation_p.R208K	NM_000817	NP_000808	Q99259	DCE1_HUMAN	Homo sapiens glutamate decarboxylase 1 (brain, 67kDa) (GAD1), transcript variant GAD67, mRNA.	589					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GAGATAGAAAGACTGGGCCAG	0.498000														15			6		0	0	1	0	0
TAS2R38	5726	broad.mit.edu	37	7	141672566	141672566	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:141672566C>T	uc003vwx.1	-	0	1008	c.924G>A	c.(922-924)gtG>gtA	p.V308V		NM_176817	NP_789787	P59533	T2R38_HUMAN	Homo sapiens taste receptor, type 2, member 38 (TAS2R38), mRNA.	308					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					GAATGGTCATCACAGCTCTCC	0.522000														34			29		0	0	1	0	0
KRT40	125115	broad.mit.edu	37	17	39135169	39135169	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:39135169G>A	uc010cxh.1	-	7	1244	c.1083C>T	c.(1081-1083)atC>atT	p.I361I	KRT40_uc002hvq.1_Non-coding_Transcript	NM_182497	NP_872303	Q6A162	K1C40_HUMAN	Homo sapiens keratin 40 (KRT40), mRNA.	361	Coil 2.|Rod.					intermediate filament	structural molecule activity			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				GGTCGCAGCGGATCTCGGCCA	0.607000														95			61		0	0	1	0	0
RIMS3	9783	broad.mit.edu	37	1	41098844	41098844	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:41098844G>A	uc001cfu.1	-	4	834	c.369C>T	c.(367-369)ttC>ttT	p.F123F	RIMS3_uc001cfv.1_Silent_p.F123F	NM_014747	NP_055562	Q9UJD0	RIMS3_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 3 (RIMS3), mRNA.	123					neurotransmitter transport	cell junction|synapse		p.F123I(1)		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)			GGGTAGTGGGGAAGATGAACC	0.617000														70			20		0	0	1	0	0
PSD3	23362	broad.mit.edu	37	8	18622975	18622975	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:18622975G>A	uc003wza.3	-	8	2259	c.2156C>T	c.(2155-2157)tCc>tTc	p.S719F	PSD3_uc003wyy.3_Missense_Mutation_p.S185F|PSD3_uc003wyz.3_Missense_Mutation_p.S20F	NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.	720	SEC7.				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CAGATCCTTGGAGAAATCAAC	0.398000														79			24		0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55970916	55970916	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:55970916C>T	uc003has.3	-	12	2183	c.1881G>A	c.(1879-1881)atG>atA	p.M627I	KDR_uc003hat.1_Missense_Mutation_p.M627I|KDR_uc011bzx.2_Missense_Mutation_p.M627I	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	627	Ig-like C2-type 6.				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)	TCTTAAGCTCCATGATCAAAA	0.453000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				20			8		0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49680548	49680548	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:49680548A>G	uc003cxe.4	+	2	1595	c.1481A>G	c.(1480-1482)aAc>aGc	p.N494S		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	494					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)		CAGGTGTGCAACCTGTGTGGC	0.592000														17			5		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9019313	9019313	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:9019313C>T	uc002mkp.3	-	22	37778	c.37574G>A	c.(37573-37575)gGa>gAa	p.G12525E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12527					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						CCCTGAGGTTCCAAGGTCCAC	0.473000														14			4		0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49698762	49698762	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:49698762G>A	uc003cxe.4	+	5	9598	c.9484G>A	c.(9484-9486)Gag>Aag	p.E3162K		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	3162					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)		CACCAACTATGAGGTGATCGC	0.612000														35			30		0	0	1	0	0
TRIM22	10346	broad.mit.edu	37	11	5718514	5718514	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:5718514G>A	uc001mbr.3	+	2	839	c.460G>A	c.(460-462)Gag>Aag	p.E154K	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron|TRIM22_uc010qzm.2_Intron|TRIM22_uc009yes.3_Missense_Mutation_p.E154K	NM_006074	NP_006065	Q8IYM9	TRI22_HUMAN	Homo sapiens tripartite motif containing 22 (TRIM22), transcript variant 1, mRNA.	154					immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		GCTGATAAAGGAGGATCAAGA	0.463000											OREG0003730	type=REGULATORY REGION|Gene=TRIM22|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		14			5		0	0	1	0	0
PPP1R7	5510	broad.mit.edu	37	2	242098640	242098640	+	Missense_Mutation	SNP	C	T	T	rs146512636	by1000genomes	TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:242098640C>T	uc002wat.1	+	4	325	c.316C>T	c.(316-318)Cgc>Tgc	p.R106C	PPP1R7_uc010fzm.1_Missense_Mutation_p.R90C|PPP1R7_uc002was.3_Missense_Mutation_p.R106C|PPP1R7_uc002wau.1_Missense_Mutation_p.R63C	NM_002712	NP_002703	Q15435	PP1R7_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 7 (PPP1R7), mRNA.	106						cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		TCTCTGCCTCCGCCAAAATTT	0.493000														82			135		0	0	1	0	0
D21847	0	broad.mit.edu	37	14	22090685	22090685	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:22090685G>A	uc001wbi.2	+	1	337	c.324G>A	c.(322-324)atG>atA	p.M108I						Homo sapiens mRNA for T cell receptor alpha variable 1, partial cds, clone: SEB 133.																		AGCTCCAGATGAAAGACTCTG	0.458000														8			16		0	0	1	0	0
ZNF282	8427	broad.mit.edu	37	7	148903910	148903910	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:148903910C>T	uc003wfm.3	+	2	813	c.708C>T	c.(706-708)tcC>tcT	p.S236S	ZNF282_uc011kun.1_Silent_p.S236S|ZNF282_uc003wfn.3_Silent_p.S176S|ZNF282_uc003wfo.3_Silent_p.S176S	NM_003575	NP_003566	Q9UDV7	ZN282_HUMAN	Homo sapiens zinc finger protein 282 (ZNF282), mRNA.	236	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		CCCTCATGTCCCTGGGTAAGG	0.478000														83			19		0	0	1	0	0
KRT85	3891	broad.mit.edu	37	12	52757894	52757894	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:52757894G>A	uc001sag.3	-	3	864	c.744C>T	c.(742-744)gcC>gcT	p.A248A		NM_002283	NP_002274	P78386	KRT85_HUMAN	Homo sapiens keratin 85 (KRT85), mRNA.	248	Coil 1B.|Rod.				epidermis development	keratin filament	protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CCTCCACCAGGGCCTCCACAT	0.612000														75			64		0	0	1	0	0
PHRF1	57661	broad.mit.edu	37	11	608545	608545	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:608545C>T	uc001lqe.3	+	13	3220	c.3089C>T	c.(3088-3090)tCg>tTg	p.S1030L	PHRF1_uc010qwc.2_Missense_Mutation_p.S1029L|PHRF1_uc010qwd.2_Missense_Mutation_p.S1028L|PHRF1_uc010qwe.2_Missense_Mutation_p.S1026L|PHRF1_uc009ybz.1_Missense_Mutation_p.S820L|PHRF1_uc009yca.2_Non-coding_Transcript	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA.	1030	Arg-rich.						RNA polymerase binding|zinc ion binding	p.S1030L(1)|p.S1035L(1)		breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GACAGGAGCTCGAGGTCAGCG	0.672000														21			5		0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21101786	21101786	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:21101786C>T	uc001iqi.3	-	23	2827	c.2430G>A	c.(2428-2430)agG>agA	p.R810R	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Silent_p.R147R|NEBL_uc021pnu.1_Silent_p.R147R	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	810					regulation of actin filament length		actin binding|structural constituent of muscle	p.R810K(1)		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						GGGTGTTCTTCCTCACTCTCT	0.483000														27			16		0	0	1	0	0
FAM5C	339479	broad.mit.edu	37	1	190067866	190067866	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:190067866G>A	uc001gse.1	-	7	1815	c.1583C>T	c.(1582-1584)tCc>tTc	p.S528F	FAM5C_uc010pot.1_Missense_Mutation_p.S426F	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	528						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					CTTACGCCAGGAGGGATCAAA	0.433000														81			23		0	0	1	0	0
LRRC8D	55144	broad.mit.edu	37	1	90398923	90398923	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	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														20			8		0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28723658	28723658	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr18:28723658C>T	uc002kwn.3	-	7	1298	c.1036G>A	c.(1036-1038)Gat>Aat	p.D346N	DSC1_uc002kwm.3_Missense_Mutation_p.D346N	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	346	Cadherin 2.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TCATTTTCATCCTCAAGTGAA	0.343000														16			7		0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117389425	117389425	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:117389425C>T	uc001prh.1	-	6	1448	c.1446G>A	c.(1444-1446)ggG>ggA	p.G482G	DSCAML1_uc001pri.1_Silent_p.G286G	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	422	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)		AGAACTGCTCCCCGGGGTTGA	0.672000														16			11		0	0	1	0	0
ECT2	1894	broad.mit.edu	37	3	172533400	172533400	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:172533400C>T	uc003fii.2	+	21	2452	c.2314C>T	c.(2314-2316)Ctt>Ttt	p.L772F	ECT2_uc010hwv.1_Missense_Mutation_p.L803F|ECT2_uc003fih.2_Missense_Mutation_p.L771F|ECT2_uc003fij.1_Missense_Mutation_p.L772F|ECT2_uc003fik.1_Missense_Mutation_p.L772F|ECT2_uc003fil.1_Missense_Mutation_p.L803F|ECT2_uc003fim.1_Missense_Mutation_p.L71F	NM_018098	NP_060568	Q9H8V3	ECT2_HUMAN	Homo sapiens epithelial cell transforming sequence 2 oncogene (ECT2), mRNA.	772					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			ATAGGAGAATCTTATTTATAC	0.259000														41			6		0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32166772	32166772	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:32166772C>T	uc003obb.3	-	23	4605	c.4466G>A	c.(4465-4467)cGa>cAa	p.R1489Q	NOTCH4_uc011dpt.2_5'Flank|NOTCH4_uc003oba.3_Missense_Mutation_p.R152Q|NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc011dpw.1_5'Flank	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	1489					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			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						CCGAGGCCGTCGAGTGAAACC	0.637000														142			82		0	0	1	0	0
PANX3	116337	broad.mit.edu	37	11	124489801	124489801	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:124489801C>T	uc001qah.3	+	3	1149	c.1149C>T	c.(1147-1149)ctC>ctT	p.L383L	TBRG1_uc001qak.4_5'Flank|TBRG1_uc001qaj.4_5'Flank|TBRG1_uc009zbf.3_5'Flank|TBRG1_uc001qal.4_5'Flank|TBRG1_uc001qai.2_5'Flank	NM_052959	NP_443191	Q96QZ0	PANX3_HUMAN	Homo sapiens pannexin 3 (PANX3), mRNA.	383					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		CCAAACACCTCACCAACTCGG	0.423000														33			15		0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118065	118065	+	RNA	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrGL000205.1:118065G>A	uc002kgk.4	+	0		c.1443G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		AGTTTTGCTCGGGGTCTGTTG	0.572000														71			6		0	0	1	0	0
SLC15A1	6564	broad.mit.edu	37	13	99362124	99362124	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr13:99362124T>A	uc001vno.3	-	11	1019	c.942A>T	c.(940-942)aaA>aaT	p.K314N		NM_005073	NP_005064	P46059	S15A1_HUMAN	Homo sapiens solute carrier family 15 (oligopeptide transporter), member 1 (SLC15A1), mRNA.	314					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	AACTTACGATTTTCCCGGACA	0.378000														20			20		0	0	1	0	0
TAS2R40	259286	broad.mit.edu	37	7	142919854	142919854	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:142919854G>A	uc011ksx.2	+	0	683	c.683G>A	c.(682-684)gGa>gAa	p.G228E		NM_176882	NP_795363	P59535	T2R40_HUMAN	Homo sapiens taste receptor, type 2, member 40 (TAS2R40), mRNA.	228					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					CTACACATGGGAAGCAATGCC	0.493000														96			26		0	0	1	0	0
KIAA1211	57482	broad.mit.edu	37	4	57181943	57181943	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:57181943C>T	uc003hbk.2	+	7	2666	c.2275C>T	c.(2275-2277)Ccc>Tcc	p.P759S	KIAA1211_uc010iha.2_Missense_Mutation_p.P752S|KIAA1211_uc011bzz.1_Missense_Mutation_p.P669S|KIAA1211_uc003hbm.1_Missense_Mutation_p.P645S	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	Homo sapiens KIAA1211 (KIAA1211), mRNA.	759										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AGAGACAGCCCCCCAGCCTCC	0.597000														24			29		0	0	1	0	0
ITK	3702	broad.mit.edu	37	5	156655310	156655310	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:156655310G>A	uc003lwo.1	+	6	734	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K		NM_005546	NP_005537	Q08881	ITK_HUMAN	Homo sapiens IL2-inducible T-cell kinase (ITK), mRNA.	218	SH3.				T cell receptor signaling pathway|cellular defense response|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TAACAGGCATGAAGGATATGT	0.284000			T	SYK	peripheral T-cell lymphoma									21			11		0	0	1	0	0
PRSS37	136242	broad.mit.edu	37	7	141536960	141536960	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:141536960C>T	uc003vws.2	-	3	891	c.519G>A	c.(517-519)agG>agA	p.R173R	PRSS37_uc011krl.2_Silent_p.R172R|PRSS37_uc011krk.2_Silent_p.R160R|PRSS37_uc003vwt.2_Silent_p.R160R	NM_001008270	NP_001008271	A4D1T9	PRS37_HUMAN	Homo sapiens protease, serine, 37 (PRSS37), transcript variant 1, mRNA.	173	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						ATAAGGAATTCCTGTGGCTTT	0.453000														71			12		0	0	1	0	0
SUCNR1	56670	broad.mit.edu	37	3	151598351	151598351	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:151598351G>A	uc003ezf.2	+	2	125	c.20G>A	c.(19-21)tGg>tAg	p.W7*		NM_033050	NP_149039	Q9BXA5	SUCR1_HUMAN	Homo sapiens succinate receptor 1 (SUCNR1), mRNA.	7						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	CTTTAGGCATGGAATGCAACT	0.393000														47			26		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140751055	140751055	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:140751055C>T	uc003ljw.2	+	0	1094	c.1094C>T	c.(1093-1095)gCc>gTc	p.A365V	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljy.2_5'Flank|PCDHGC5_uc011dat.2_Missense_Mutation_p.A365V|PCDHGC5_uc011dau.2_5'Flank	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	368	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V365V(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGGGACTGCCGTTGCCCTG	0.408000														12			5		0	0	1	0	0
TNPO3	23534	broad.mit.edu	37	7	128645159	128645159	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:128645159G>A	uc010lly.2	-	4	1010	c.607C>T	c.(607-609)Cgc>Tgc	p.R203C	TNPO3_uc003vol.2_Missense_Mutation_p.R203C|TNPO3_uc010llz.2_Missense_Mutation_p.R203C|TNPO3_uc003vom.2_Missense_Mutation_p.R137C	NM_012470	NP_036602	Q9Y5L0	TNPO3_HUMAN	Homo sapiens transportin 3 (TNPO3), transcript variant 1, mRNA.	203					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						CCCAAACAGCGAAAAACCTTC	0.323000														81			42		0	0	1	0	0
OR51A4	401666	broad.mit.edu	37	11	4967632	4967632	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:4967632C>T	uc010qys.2	-	0	699	c.699G>A	c.(697-699)aaG>aaA	p.K233K		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA.	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K233N(2)		large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TAAGCTGCTCCTTTTTGGATG	0.468000														30			9		0	0	1	0	0
GATS	352954	broad.mit.edu	37	7	99869515	99869515	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:99869515G>A	uc003uua.4	-	0	341	c.92C>T	c.(91-93)tCc>tTc	p.S31F	GATS_uc010lgt.3_Non-coding_Transcript|GATS_uc003uty.4_Non-coding_Transcript|GATS_uc003utz.4_Non-coding_Transcript|GATS_uc010lgu.2_Non-coding_Transcript	NM_178831	NP_849153	Q8NAP1	GATS_HUMAN	Homo sapiens GATS, stromal antigen 3 opposite strand (GATS), transcript variant 1, mRNA.	31										endometrium(2)|large_intestine(2)|lung(4)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGAACAGCGGGATACTCTCCT	0.667000														41			20		0	0	1	0	0
NCOA2	10499	broad.mit.edu	37	8	71069075	71069075	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:71069075G>A	uc003xyn.1	-	10	1687	c.1525C>T	c.(1525-1527)Cct>Tct	p.P509S		NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Homo sapiens nuclear receptor coactivator 2 (NCOA2), mRNA.	509					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	p.S508F(1)	PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			CTTCCTGCAGGGGAAAACTGA	0.562000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""									32			13		0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	3072591	3072591	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:3072591G>A	uc003bpc.3	+	15	2054	c.1715G>A	c.(1714-1716)gGg>gAg	p.G572E	CNTN4_uc003bpb.1_Missense_Mutation_p.G243E|CNTN4_uc021wsg.1_Missense_Mutation_p.G572E|CNTN4_uc003bpd.1_Missense_Mutation_p.G572E|CNTN4_uc003bpe.3_Missense_Mutation_p.G244E|CNTN4_uc003bpf.3_Missense_Mutation_p.G243E	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	572	Ig-like C2-type 6.				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	p.P572L(1)|p.P572S(1)		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)		AAGCATGCTGGGAAATATGTC	0.423000														55			22		0	0	1	0	0
DHX9	1660	broad.mit.edu	37	1	182827877	182827877	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:182827877C>T	uc001gpr.3	+	9	1085	c.910C>T	c.(910-912)Cct>Tct	p.P304S	DHX9_uc001gps.3_Missense_Mutation_p.P90S	NM_001357	NP_001348	Q08211	DHX9_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 (DHX9), transcript variant 1, mRNA.	304	Interaction with BRCA1.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	CRD-mediated mRNA stability complex|centrosome|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GCCTGAAGATCCTTCTGTGCC	0.398000														29			21		0	0	1	0	0
AXIN1	8312	broad.mit.edu	37	16	396796	396796	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:396796G>A	uc002cgp.2	-	1	619	c.230C>T	c.(229-231)tCc>tTc	p.S77F	AXIN1_uc002cgq.2_Missense_Mutation_p.S77F	NM_003502	NP_003493	O15169	AXIN1_HUMAN	Homo sapiens axin 1 (AXIN1), transcript variant 1, mRNA.	77					Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis|activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	GTPase activator activity|I-SMAD binding|armadillo repeat domain binding|beta-catenin binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	p.S77F(4)|p.A76T(4)|p.A76V(3)		biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				TGGGGTGGGGGAGGCACTGCC	0.582000											OREG0003698	type=REGULATORY REGION|Gene=AXIN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		17			6		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55542401	55542401	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:55542401G>A	uc003xsd.1	+	3	6107	c.5959G>A	c.(5959-5961)Gat>Aat	p.D1987N	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1987					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.D1987Y(2)		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)			TGCCATTGGTGATATATTTGA	0.313000														19			13		0	0	1	0	0
OTC	5009	broad.mit.edu	37	X	38268275	38268275	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:38268275G>A	uc004def.4	+	7	1078	c.864G>A	c.(862-864)atG>atA	p.M288I		NM_000531	NP_000522	P00480	OTC_HUMAN	Homo sapiens ornithine carbamoyltransferase (OTC), nuclear gene encoding mitochondrial protein, mRNA.	288					arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	AGGTTACAATGAAGGTACAAA	0.423000														9			13		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13886106	13886106	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:13886106C>T	uc003jfd.2	-	17	2752	c.2710G>A	c.(2710-2712)Gag>Aag	p.E904K		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	904	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)					ACACTATTCTCATTGGATATT	0.318000									Kartagener syndrome					26			13		0	0	1	0	0
ZG16B	124220	broad.mit.edu	37	16	2881920	2881920	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:2881920C>T	uc002cru.3	+	3	463	c.387C>T	c.(385-387)ttC>ttT	p.F129F		NM_145252	NP_660295	Q96DA0	ZG16B_HUMAN	Homo sapiens zymogen granule protein 16 homolog B (rat) (ZG16B), mRNA.	129						extracellular region	sugar binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						TCCAAGCTTTCCTCCGGGGTA	0.547000														25			11		0	0	1	0	0
USP36	57602	broad.mit.edu	37	17	76799723	76799723	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:76799723G>A	uc002jvz.1	-	15	2879	c.2554C>T	c.(2554-2556)Ccg>Tcg	p.P852S	USP36_uc002jwa.1_Missense_Mutation_p.P852S|USP36_uc002jwb.1_Missense_Mutation_p.P464S|USP36_uc002jwc.1_Missense_Mutation_p.P552S|USP36_uc002jvy.1_5'Flank	NM_025090	NP_079366	Q9P275	UBP36_HUMAN	Homo sapiens ubiquitin specific peptidase 36 (USP36), mRNA.	852					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			GTGTCCTCCGGGCGcttcttc	0.672000														45			9		0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30521683	30521683	+	Splice_Site	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:30521683C>T	uc002dyi.4	+	22	2685	c.2509_splice	c.e22-1	p.P837_splice	ITGAL_uc002dyj.4_Splice_Site_p.P753_splice|ITGAL_uc010vev.2_Intron	NM_002209	NP_002200	P20701	ITAL_HUMAN	Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA.	837					T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	CACTCCCAGCCCCATAGCCAG	0.557000														108			8		0	0	1	0	0
MTMR12	54545	broad.mit.edu	37	5	32230004	32230004	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:32230004G>A	uc003jhq.3	-	15	2294	c.2124C>T	c.(2122-2124)ttC>ttT	p.F708F	MTMR12_uc010iuk.3_Silent_p.F654F|MTMR12_uc010iul.3_Silent_p.F598F	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN	Homo sapiens myotubularin related protein 12 (MTMR12), mRNA.	708						cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GGAGCAGAGCGAAAGGAAACA	0.572000														33			51		0	0	1	0	0
TCRBV2S1	0	broad.mit.edu	37	7	142334740	142334740	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:142334740G>A	uc003vzp.2	+	1	217	c.162G>A	c.(160-162)ccG>ccA	p.P54P	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzq.2_Silent_p.P55P|TCRBV2S1_uc022anq.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		GTCAGTTCCCGAAACAGAGTC	0.507000											OREG0018395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		54			31		0	0	1	0	0
NEURL	9148	broad.mit.edu	37	10	105330765	105330765	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:105330765C>T	uc001kxh.3	+	1	632	c.222C>T	c.(220-222)atC>atT	p.I74I	NEURL_uc021pxn.1_Silent_p.I57I	NM_004210	NP_004201	O76050	NEU1A_HUMAN	Homo sapiens neuralized homolog (Drosophila) (NEURL), mRNA.	74	NHR 1.				nervous system development	perinuclear region of cytoplasm	zinc ion binding	p.Q73H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		GCTCCCAGATCCTCATGGACC	0.642000														102			35		0	0	1	0	0
LOXL4	84171	broad.mit.edu	37	10	100011405	100011406	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:100011405_100011406CC>TT	uc001kpa.1	-	12	2156_2157	c.2005_2006GG>AA	c.(2005-2007)ggc>AAc	p.G669N		NM_032211	NP_115587	Q96JB6	LOXL4_HUMAN	Homo sapiens lysyl oxidase-like 4 (LOXL4), mRNA.	669	Lysyl-oxidase like.					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		GTCCCAGCAGCCTACAGTCACT	0.559000														37			8		0	0	1	0	0
TRAT1	50852	broad.mit.edu	37	3	108568012	108568012	+	Splice_Site	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:108568012G>A	uc003dxi.1	+	5	359	c.215_splice	c.e5-1	p.E72_splice	TRAT1_uc010hpx.1_Splice_Site_p.E35_splice	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN	Homo sapiens T cell receptor associated transmembrane adaptor 1 (TRAT1), mRNA.	72					T cell receptor signaling pathway|cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of T cell receptor signaling pathway|positive regulation of calcium-mediated signaling	T cell receptor complex|integral to plasma membrane	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						TAATTCCCAAGAACCAATGGA	0.333000														35			7		0	0	1	0	0
PRRC2B	84726	broad.mit.edu	37	9	134346364	134346364	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:134346364C>T	uc004can.4	+	12	2156	c.2101C>T	c.(2101-2103)Ccc>Tcc	p.P701S	PRRC2B_uc010mzj.1_Missense_Mutation_p.P284S|PRRC2B_uc004cao.4_Missense_Mutation_p.P59S	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	Homo sapiens proline-rich coiled-coil 2B (PRRC2B), mRNA.	701							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CGCCCTGCATCCCTCAGGTAA	0.567000														23			10		0	0	1	0	0
OR7C2	26658	broad.mit.edu	37	19	15053156	15053156	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:15053156C>T	uc010xoc.2	+	0	856	c.856C>T	c.(856-858)Ccc>Tcc	p.P286S		NM_012377	NP_036509	O60412	OR7C2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily C, member 2 (OR7C2), mRNA.	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					CATGCTGAACCCCTTCATCTA	0.552000														46			22		0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169513575	169513575	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:169513575G>A	uc001ggg.1	-	11	2079	c.1934C>T	c.(1933-1935)cCc>cTc	p.P645L		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	645	F5/8 type A 2.|Plastocyanin-like 4.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TCCACGCATGGGGAAGAGGGT	0.463000														41			10		0	0	1	0	0
DCAF4	26094	broad.mit.edu	37	14	73422349	73422349	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:73422349C>T	uc001xng.3	+	11	1344	c.1124C>T	c.(1123-1125)tCt>tTt	p.S375F	DCAF4_uc010ttr.2_Missense_Mutation_p.S354F|DCAF4_uc001xnj.3_Missense_Mutation_p.S369F|DCAF4_uc001xnh.3_Missense_Mutation_p.S275F|DCAF4_uc010tts.2_Missense_Mutation_p.S315F|DCAF4_uc010ttt.2_Missense_Mutation_p.S161F|DCAF4_uc001xni.3_Missense_Mutation_p.S205F|DCAF4_uc001xnk.3_Missense_Mutation_p.S375F	NM_015604	NP_851937	Q8WV16	DCAF4_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4 (DCAF4), transcript variant 1, mRNA.	375						CUL4 RING ubiquitin ligase complex				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						GCAGTGACCTCTGTGCGGATC	0.547000														120			51		0	0	1	0	0
FKBP15	23307	broad.mit.edu	37	9	115950674	115950674	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:115950674G>A	uc004bgs.2	-	12	1424	c.1271C>T	c.(1270-1272)tCa>tTa	p.S424L	FKBP15_uc010muu.1_Missense_Mutation_p.S488L|FKBP15_uc011lxc.1_5'Flank|FKBP15_uc011lxd.1_Missense_Mutation_p.S356L|FKBP15_uc010mut.1_Missense_Mutation_p.S292L|FKBP15_uc004bgt.2_Missense_Mutation_p.S424L	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN	Homo sapiens FK506 binding protein 15, 133kDa (FKBP15), mRNA.	424					endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						CTTACCCTGTGAGGTCATCTG	0.532000														31			26		0	0	1	0	0
CHST8	64377	broad.mit.edu	37	19	34263618	34263618	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:34263618C>T	uc002nus.4	+	4	1430	c.925C>T	c.(925-927)Ccc>Tcc	p.P309S	CHST8_uc002nut.4_Missense_Mutation_p.P309S|CHST8_uc002nuu.3_Missense_Mutation_p.P309S	NM_001127895	NP_071912	Q9H2A9	CHST8_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 (CHST8), transcript variant 2, mRNA.	309					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)					GGTGCGTTTTCCCGAGTTCGT	0.652000														31			10		0	0	1	0	0
MAGI3	260425	broad.mit.edu	37	1	114193659	114193659	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:114193659C>T	uc001edk.3	+	13	2452	c.2271C>T	c.(2269-2271)ccC>ccT	p.P757P	MAGI3_uc001edh.3_Silent_p.P782P|MAGI3_uc001edi.4_Silent_p.P757P|MAGI3_uc010owm.2_Silent_p.P782P|MAGI3_uc001edj.3_Silent_p.P478P	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 3 (MAGI3), transcript variant 1, mRNA.	782	Interaction with BAI1.|PDZ 4.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTATTATTCCCCTGGGAGCAG	0.413000														37			9		0	0	1	0	0
ACSM4	341392	broad.mit.edu	37	12	7473398	7473398	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:7473398G>A	uc001qsx.1	+	5	999	c.999G>A	c.(997-999)aaG>aaA	p.K333K		NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA.	333					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						AAGACCTTAAGAGGTACTTGG	0.463000														14			6		0	0	1	0	0
IL26	55801	broad.mit.edu	37	12	68595678	68595678	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:68595678C>T	uc001stx.1	-	4	498	c.463G>A	c.(463-465)Gaa>Aaa	p.E155K		NM_018402	NP_060872	Q9NPH9	IL26_HUMAN	Homo sapiens interleukin 26 (IL26), mRNA.	155					cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of cytokine secretion|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter	cytosol|extracellular space|soluble fraction	cytokine activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		ATATCCAGTTCACTGATGGCT	0.269000														29			12		0	0	1	0	0
DIP2A	23181	broad.mit.edu	37	21	47981686	47981686	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr21:47981686C>T	uc002zjo.2	+	33	4240	c.4057C>T	c.(4057-4059)Ccg>Tcg	p.P1353S	DIP2A_uc011afz.1_Missense_Mutation_p.P1349S|DIP2A_uc002zjs.2_Missense_Mutation_p.P33S|DIP2A_uc002zjt.2_5'Flank	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog A (Drosophila) (DIP2A), transcript variant 1, mRNA.	1353					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		ACGGGGTTCTCCGCACAGCCT	0.473000														112			43		0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248039296	248039296	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:248039296C>T	uc001ido.3	+	5	1014	c.966C>T	c.(964-966)gtC>gtT	p.V322V	OR2W3_uc001idp.1_5'UTR	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	Homo sapiens tripartite motif containing 58 (TRIM58), mRNA.	322	B30.2/SPRY.		V -> I (in dbSNP:rs1339847).			intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGAGGGATGTCCCCAACAACC	0.597000														10			16		0	0	1	0	0
VCAM1	7412	broad.mit.edu	37	1	101190185	101190185	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:101190185C>A	uc001dti.3	+	3	888	c.667C>A	c.(667-669)Ccc>Acc	p.P223T	VCAM1_uc010ouj.2_Missense_Mutation_p.P161T|VCAM1_uc001dtj.3_Missense_Mutation_p.P223T	NM_001078	NP_001069	P19320	VCAM1_HUMAN	Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA.	223	Ig-like C2-type 3.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	TTCAGTATCACCCAAGAATAC	0.423000														30			17		1.37657e-19	1.40248e-19	1	1	0
ANK3	288	broad.mit.edu	37	10	61844524	61844524	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:61844524C>T	uc001jky.3	-	31	4248	c.3910G>A	c.(3910-3912)Gaa>Aaa	p.E1304K	ANK3_uc001jkw.3_Missense_Mutation_p.E438K|ANK3_uc009xpa.3_Missense_Mutation_p.E438K|ANK3_uc001jkx.3_Missense_Mutation_p.E482K|ANK3_uc010qih.2_Missense_Mutation_p.E1305K|ANK3_uc001jkz.4_Missense_Mutation_p.E1298K|ANK3_uc001jla.1_Missense_Mutation_p.E370K|ANK3_uc001jlb.1_Missense_Mutation_p.E822K|ANK3_uc001jkv.3_5'Flank	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1304					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						CATATCAATTCTCTGTACAGT	0.393000														42			35		0	0	1	0	0
DGKB	1607	broad.mit.edu	37	7	14216493	14216493	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:14216493C>T	uc003ssz.3	-	23	2465	c.2278G>A	c.(2278-2280)Ggg>Agg	p.G760R	DGKB_uc011jxt.2_Missense_Mutation_p.G741R|DGKB_uc003sta.3_Missense_Mutation_p.G760R|DGKB_uc011jxu.2_Missense_Mutation_p.G759R	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA.	760					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|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	CATGGCTCCCCATCAATTTGC	0.388000														94			29		0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	40978546	40978546	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:40978546G>A	uc002ony.3	+	1	104	c.18G>A	c.(16-18)ggG>ggA	p.G6G	SPTBN4_uc002onx.3_Silent_p.G6G|SPTBN4_uc002onz.3_Silent_p.G6G	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	6	Actin-binding.				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)			AGGTACCAGGGGAAGTGGACA	0.602000														17			8		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13769176	13769176	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:13769176C>T	uc003jfd.2	-	57	9832	c.9790G>A	c.(9790-9792)Gac>Aac	p.D3264N	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3264	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.D3264H(2)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGGGCCCTGTCCTTCACCTTC	0.448000									Kartagener syndrome					177			110		0	0	1	0	0
PCDH1	5097	broad.mit.edu	37	5	141248739	141248739	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:141248739G>A	uc003llp.3	-	1	415	c.298C>T	c.(298-300)Cgc>Tgc	p.R100C	PCDH1_uc011dbf.2_Missense_Mutation_p.R78C|PCDH1_uc003llq.3_Missense_Mutation_p.R100C	NM_032420	NP_115796	Q08174	PCDH1_HUMAN	Homo sapiens protocadherin 1 (PCDH1), transcript variant 2, mRNA.	100	Cadherin 1.				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)		CCATCCACGCGAAGGTACGGG	0.592000														19			13		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179434109	179434109	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:179434109C>T	uc021vsy.1	-	274	69271	c.69046G>A	c.(69046-69048)Gaa>Aaa	p.E23016K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E16711K|TTN_uc021vta.1_Missense_Mutation_p.E16644K|TTN_uc021vtb.1_Missense_Mutation_p.E16519K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	23943	Fibronectin type-III 67.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E16644Q(1)|p.E23016Q(1)|p.E16519Q(1)|p.E23014Q(1)|p.E16711Q(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGCTGTTTTCTAATGTAAGC	0.413000														22			48		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140996152	140996152	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:140996152C>T	uc004fbt.3	+	3	3286	c.2962C>T	c.(2962-2964)Ctg>Ttg	p.L988L	MAGEC1_uc010nsl.2_Silent_p.L55L|MAGEC1_uc022cfi.1_Silent_p.L647L	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	988	MAGE.						protein binding	p.L988L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGGGGTGTCTGAGTGATGA	0.473000										HNSCC(15;0.026)				22			76		0	0	1	0	0
TRHR	7201	broad.mit.edu	37	8	110100426	110100426	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:110100426G>T	uc003ymz.4	+	0	774	c.685G>T	c.(685-687)Gaa>Taa	p.E229*		NM_003301	NP_003292	P34981	TRFR_HUMAN	Homo sapiens thyrotropin-releasing hormone receptor (TRHR), mRNA.	229						integral to plasma membrane	thyrotropin-releasing hormone receptor activity	p.E229*(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			AGATCCTAAAGAAAACTCTAA	0.368000														31			10		7.48243e-07	7.53503e-07	1	1	0
DLX5	1749	broad.mit.edu	37	7	96650194	96650194	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:96650194G>A	uc003uon.3	-	2	932	c.724C>T	c.(724-726)Ccg>Tcg	p.P242S		NM_005221	NP_005212	P56178	DLX5_HUMAN	Homo sapiens distal-less homeobox 5 (DLX5), mRNA.	242					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					TTGGAGGTCGGAGGGTGGGCA	0.657000														47			24		0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	21555950	21555950	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:21555950A>G	uc009yid.3	+	16	1913	c.1760A>G	c.(1759-1761)gAg>gGg	p.E587G	NELL1_uc010rdp.2_Intron|NELL1_uc001mqe.3_Missense_Mutation_p.E559G|NELL1_uc001mqf.3_Intron|NELL1_uc010rdo.2_Missense_Mutation_p.E502G|NELL1_uc001mqh.3_Missense_Mutation_p.S169G	NM_006157	NP_006148	Q92832	NELL1_HUMAN	Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA.	559	EGF-like 5; calcium-binding (Potential).				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GGAATCATTGAGTGCCACAAC	0.483000														29			27		0	0	1	0	0
WDR18	57418	broad.mit.edu	37	19	990243	990243	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:990243C>T	uc002lqm.1	+	3	502	c.476C>T	c.(475-477)tCc>tTc	p.S159F		NM_024100	NP_077005	Q9BV38	WDR18_HUMAN	Homo sapiens WD repeat domain 18 (WDR18), mRNA.	159										endometrium(1)|kidney(2)|lung(2)|skin(2)	7		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		GCCGACCCCTCCAGGATTCCG	0.731000														13			9		0	0	1	0	0
PRKAA2	5563	broad.mit.edu	37	1	57157076	57157076	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:57157076G>A	uc001cyk.4	+	2	317	c.246G>A	c.(244-246)gtG>gtA	p.V82V		NM_006252	NP_006243	P54646	AAPK2_HUMAN	Homo sapiens protein kinase, AMP-activated, alpha 2 catalytic subunit (PRKAA2), mRNA.	82	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			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						GATACCAGGTGATCAGCACTC	0.308000														23			20		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139165308	139165308	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:139165308C>T	uc003yuy.3	-	12	1581	c.1410G>A	c.(1408-1410)atG>atA	p.M470I	FAM135B_uc003yux.3_Missense_Mutation_p.M371I|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.M32I|FAM135B_uc003yvb.3_Missense_Mutation_p.M32I	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	470										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)			CATCAGAATCCATTTGGGATG	0.373000										HNSCC(54;0.14)				33			24		0	0	1	0	0
KRT73	319101	broad.mit.edu	37	12	53007540	53007540	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:53007540C>T	uc001sas.3	-	4	951	c.916G>A	c.(916-918)Gtc>Atc	p.V306I		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	Homo sapiens keratin 73 (KRT73), mRNA.	306	Coil 2.|Rod.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGGGCACGGACCTCAGCAATG	0.582000														83			23		0	0	1	0	0
KCNU1	157855	broad.mit.edu	37	8	36673203	36673203	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:36673203G>A	uc010lvw.3	+	8	1080	c.993G>A	c.(991-993)aaG>aaA	p.K331K	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.	331						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TCAAAGGAAAGAAGTAAGTAG	0.333000														21			10		0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139910781	139910781	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:139910781G>A	uc004ckm.1	-	20	3203	c.3153C>T	c.(3151-3153)tcC>tcT	p.S1051S	ABCA2_uc022bpy.1_Silent_p.S952S|ABCA2_uc022bpz.1_Silent_p.S1022S|ABCA2_uc011mem.1_Silent_p.S1021S|ABCA2_uc004ckl.1_Silent_p.S952S|ABCA2_uc004ckn.1_Non-coding_Transcript	NM_212533	NP_997698	Q9BZC7	ABCA2_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA.	1021	ABC transporter 1.				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GGCCCAAGAAGGAGACCACCT	0.597000														33			8		0	0	1	0	0
OR5K3	403277	broad.mit.edu	37	3	98110406	98110406	+	Missense_Mutation	SNP	G	A	A	rs144759043	by1000genomes	TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:98110406G>A	uc011bgw.2	+	0	897	c.897G>A	c.(895-897)atG>atA	p.M299I		NM_001005516	NP_001005516	A6NET4	OR5K3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 3 (OR5K3), mRNA.	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						TAAATATTATGAAAAAAATTA	0.259000														38			8		0	0	1	0	0
ZNF33A	7581	broad.mit.edu	37	10	38343838	38343838	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:38343838C>T	uc010qev.2	+	3	908	c.804C>T	c.(802-804)ctC>ctT	p.L268L	ZNF33A_uc001izg.3_Silent_p.L262L|ZNF33A_uc001izh.3_Silent_p.L261L|ZNF33A_uc001izi.1_Intron|ZNF33A_uc021ppe.1_Silent_p.L262L	NM_006974	NP_008905	Q06730	ZN33A_HUMAN	Homo sapiens zinc finger protein 33A (ZNF33A), transcript variant 2, mRNA.	261						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						GTTCATCCCTCTTGTTCCATC	0.388000														44			15		0	0	1	0	0
IFITM5	387733	broad.mit.edu	37	11	298634	298634	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:298634G>A	uc001low.1	-	1	302	c.266C>T	c.(265-267)gCc>gTc	p.A89V		NM_001025295	NP_001020466	A6NNB3	IFM5_HUMAN	Homo sapiens interferon induced transmembrane protein 5 (IFITM5), mRNA.	89					multicellular organismal development|regulation of bone mineralization|response to biotic stimulus	integral to membrane|plasma membrane				lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.73e-28)|Epithelial(43;3.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.14e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0328)|LUSC - Lung squamous cell carcinoma(625;0.122)		CCACATCGCGGCCAGGATGTT	0.647000														28			22		0	0	1	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106064148	106064148	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:106064148G>A	uc004emo.3	+	2	448	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K	MORC4_uc004emp.4_Intron|TBC1D8B_uc004emm.3_Missense_Mutation_p.E95K|TBC1D8B_uc004emn.3_Missense_Mutation_p.E95K	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN	Homo sapiens TBC1 domain family, member 8B (with GRAM domain) (TBC1D8B), transcript variant 1, mRNA.	95						intracellular	Rab GTPase activator activity|calcium ion binding	p.E95K(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GGATTGGTTGGAACAAAATAT	0.313000														9			12		0	0	1	0	0
OR5B2	390190	broad.mit.edu	37	11	58190315	58190315	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:58190315G>A	uc010rkg.2	-	0	472	c.420C>T	c.(418-420)gcC>gcT	p.A140A		NM_001005566	NP_001005566	Q96R09	OR5B2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 2 (OR5B2), mRNA.	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A140A(2)		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)				GGGCCAGACAGGCACCTACAC	0.502000														25			7		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	123987705	123987705	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:123987705C>T	uc003ehg.3	+	4	693	c.566C>T	c.(565-567)tCc>tTc	p.S189F	KALRN_uc010hrv.1_Missense_Mutation_p.S189F|KALRN_uc003ehf.1_Missense_Mutation_p.S189F|KALRN_uc011bjy.1_Missense_Mutation_p.S189F	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	189					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CTGCGGCTCTCCCTGGAGGAG	0.617000														25			22		0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66062172	66062172	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:66062172G>A	uc001dci.3	+	6	1134	c.745G>A	c.(745-747)Gat>Aat	p.D249N	LEPR_uc001dcg.3_Missense_Mutation_p.D249N|LEPR_uc001dch.3_Missense_Mutation_p.D249N|LEPR_uc009waq.3_Intron|LEPR_uc021ool.1_Missense_Mutation_p.D249N|LEPR_uc001dcj.3_Missense_Mutation_p.D249N|LEPR_uc001dck.3_Missense_Mutation_p.D249N	NM_002303	NP_002294	P48357	LEPR_HUMAN	Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA.	249	Fibronectin type-III 1.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GGAAATCACAGATGATGGTAA	0.338000														37			9		0	0	1	0	0
SPINT4	391253	broad.mit.edu	37	20	44351096	44351096	+	Silent	SNP	G	A	A	rs8117724	byFrequency	TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:44351096G>A	uc002xpe.1	+	0	109	c.90G>A	c.(88-90)gcG>gcA	p.A30A		NM_178455	NP_848550	Q6UDR6	SPIT4_HUMAN	Homo sapiens serine peptidase inhibitor, Kunitz type 4 (SPINT4), mRNA.	30			A -> E (in dbSNP:rs16990631).			extracellular region	serine-type endopeptidase inhibitor activity			lung(6)|ovary(1)|skin(1)	8		Myeloproliferative disorder(115;0.028)				ATAAAATTGCGGAGAAGATAT	0.398000														39			9		0	0	1	0	0
PVRL4	81607	broad.mit.edu	37	1	161049388	161049388	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:161049388C>T	uc001fxo.2	-	1	730	c.431G>A	c.(430-432)cGa>cAa	p.R144Q		NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	Homo sapiens poliovirus receptor-related 4 (PVRL4), mRNA.	144	Ig-like V-type 1.				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)			ACCCAGCACTCGGAGCCGCAG	0.662000														12			5		0	0	1	0	0
ERGIC1	57222	broad.mit.edu	37	5	172341787	172341787	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:172341787C>T	uc003mbw.4	+	4	515	c.321C>T	c.(319-321)atC>atT	p.I107I	ERGIC1_uc003mby.4_Silent_p.I15I|ERGIC1_uc011dfa.2_Silent_p.I52I|ERGIC1_uc003mbz.4_Silent_p.I62I	NM_001031711	NP_001026881	Q969X5	ERGI1_HUMAN	Homo sapiens endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1 (ERGIC1), mRNA.	107					ER to Golgi vesicle-mediated transport	ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)	9	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCATGAAGATCCCGCTGAACA	0.572000														29			15		0	0	1	0	0
ZNF440	126070	broad.mit.edu	37	19	11942540	11942540	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:11942540C>T	uc002msp.1	+	3	705	c.549C>T	c.(547-549)tcC>tcT	p.S183S	ZNF440_uc021upk.1_5'Flank	NM_152357	NP_689570	Q8IYI8	ZN440_HUMAN	Homo sapiens zinc finger protein 440 (ZNF440), mRNA.	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CCTTTATTTCCCATTCAAGTG	0.398000														62			27		0	0	1	0	0
PPEF2	5470	broad.mit.edu	37	4	76797776	76797776	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:76797776C>T	uc003hix.3	-	10	1341	c.984G>A	c.(982-984)atG>atA	p.M328I	PPEF2_uc003hiy.3_Non-coding_Transcript|PPEF2_uc003hiz.1_Missense_Mutation_p.M328I	NM_006239	NP_006230	O14830	PPE2_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 2 (PPEF2), mRNA.	328	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	Hsp70 protein binding|Hsp90 protein binding|calcium ion binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TCTTCTCCTCCATCTGCTTCT	0.522000														37			13		0	0	1	0	0
DCLK2	166614	broad.mit.edu	37	4	151170731	151170731	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:151170731C>T	uc003ilo.4	+	15	2773	c.2019C>T	c.(2017-2019)tcC>tcT	p.S673S	DCLK2_uc003ilp.4_Non-coding_Transcript|DCLK2_uc003ilm.4_Silent_p.S656S|DCLK2_uc003iln.4_Silent_p.S655S	NM_001040261	NP_001035351	Q8N568	DCLK2_HUMAN	Homo sapiens doublecortin-like kinase 2 (DCLK2), transcript variant 2, mRNA.	656					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)					ATGATGCCTCCCAGGAGAATA	0.468000														35			17		0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247587777	247587777	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:247587777C>T	uc001icr.3	+	4	1170	c.1032C>T	c.(1030-1032)gcC>gcT	p.A344A	NLRP3_uc001ics.3_Silent_p.A344A|NLRP3_uc001icu.3_Silent_p.A344A|NLRP3_uc001icw.3_Silent_p.A344A|NLRP3_uc001icv.3_Silent_p.A344A|NLRP3_uc010pyw.2_Silent_p.A342A|NLRP3_uc001ict.1_Silent_p.A342A	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	344	NACHT.				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)			TTCCCGAGGCCTCTCTGCTCA	0.582000														22			32		0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	71134991	71134991	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:71134991G>A	uc003tvy.3	+	7	1301	c.1301G>A	c.(1300-1302)aGa>aAa	p.R434K	WBSCR17_uc003tvz.3_Missense_Mutation_p.R133K	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	434						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.E433D(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GTCTCCGAAAGAAGAGCATTA	0.463000														50			29		0	0	1	0	0
PSG2	5670	broad.mit.edu	37	19	43579626	43579626	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:43579626C>T	uc002ovr.3	-	2	761	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K	PSG4_uc010xwk.1_Intron	NM_031246	NP_112536	P11465	PSG2_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 2 (PSG2), mRNA.	197	Ig-like C2-type 1.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				CTGTTGGTTTCGGACAGCTGA	0.498000														169			79		0	0	1	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307305	39307305	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:39307305C>T	uc021wwc.1	-	1	832	c.792G>A	c.(790-792)ctG>ctA	p.L264L	CX3CR1_uc021wwa.1_Silent_p.L232L|CX3CR1_uc021wwb.1_Silent_p.L232L|CX3CR1_uc003cjl.3_Silent_p.L232L|CX3CR1_uc021wwd.1_Silent_p.L232L	NM_001171174	NP_001164645	P49238	CX3C1_HUMAN	Homo sapiens chemokine (C-X3-C motif) receptor 1 (CX3CR1), transcript variant 1, mRNA.	232					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		CCAGAAGGATCAGTTTAATGG	0.448000														52			17		0	0	1	0	0
MLXIPL	51085	broad.mit.edu	37	7	73021965	73021965	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:73021965C>T	uc003tyn.1	-	2	486	c.438G>A	c.(436-438)gtG>gtA	p.V146V	MLXIPL_uc003tyk.1_Silent_p.V146V|MLXIPL_uc003tym.1_Silent_p.V146V|MLXIPL_uc003tyl.1_Silent_p.V146V|MLXIPL_uc003tyo.1_Non-coding_Transcript|MLXIPL_uc003typ.1_Silent_p.V146V|MLXIPL_uc003tyq.1_5'Flank	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Homo sapiens MLX interacting protein-like (MLXIPL), transcript variant 1, mRNA.	146					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				GCAGGGGGGTCACGAAGCCAC	0.682000											OREG0018107	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		40			11		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176863828	176863828	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:176863828C>T	uc001glc.3	-	16	3022	c.2810G>A	c.(2809-2811)gGa>gAa	p.G937E	ASTN1_uc001glb.1_Missense_Mutation_p.G937E|ASTN1_uc001gld.1_Missense_Mutation_p.G937E	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	945					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GGGGCATCGTCCCTTGCTGTG	0.607000														67			40		0	0	1	0	0
RCBTB2	1102	broad.mit.edu	37	13	49073883	49073883	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr13:49073883G>A	uc010tgg.2	-	11	1564	c.1273C>T	c.(1273-1275)Cgt>Tgt	p.R425C	RCBTB2_uc001vci.3_Missense_Mutation_p.R396C|RCBTB2_uc010tgh.2_Missense_Mutation_p.R146C|RCBTB2_uc001vch.3_Missense_Mutation_p.R420C|RCBTB2_uc001vcj.3_Missense_Mutation_p.R372C|RCBTB2_uc010acv.1_Non-coding_Transcript	NM_001268	NP_001259	O95199	RCBT2_HUMAN	Homo sapiens regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 (RCBTB2), mRNA.	420	BTB 1.						Ran guanyl-nucleotide exchange factor activity			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		AATGACGAACGAAAATGCTCA	0.453000														23			7		0	0	1	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60348314	60348314	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:60348314C>A	uc002izq.2	-	6	573	c.461G>T	c.(460-462)aGg>aTg	p.R154M	TBC1D3P2_uc010woz.2_Intron|DQ571391_uc010wpa.1_5'Flank|DQ581615_uc021ubf.1_5'Flank|DQ575686_uc021ubg.1_5'Flank|DQ580080_uc021ubh.1_5'Flank					Homo sapiens TBC1 domain family, member 3 pseudogene 2 (TBC1D3P2), non-coding RNA.											breast(2)|kidney(1)|lung(2)	5						TATATGCCTCCTTAATGTCCC	0.547000														240			25		9.85521e-28	1.00492e-27	1	1	0
DSG1	1828	broad.mit.edu	37	18	28919773	28919773	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr18:28919773G>A	uc002kwp.3	+	10	1684	c.1472G>A	c.(1471-1473)aGg>aAg	p.R491K		NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	491	Cadherin 4.				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)			AATGACGACAGGACTAATACA	0.333000														16			30		0	0	1	0	0
KIAA0232	9778	broad.mit.edu	37	4	6863241	6863241	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:6863241C>T	uc003gjr.4	+	6	1595	c.1132C>T	c.(1132-1134)Cct>Tct	p.P378S	KIAA0232_uc003gjq.4_Missense_Mutation_p.P378S	NM_014743	NP_055558	Q92628	K0232_HUMAN	Homo sapiens KIAA0232 (KIAA0232), transcript variant 1, mRNA.	378							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						GAGAAAAGATCCTGGGAGCAC	0.443000														89			26		0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101844896	101844896	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:101844896C>T	uc003uys.4	+	17	2479	c.2352C>T	c.(2350-2352)gcC>gcT	p.A784A	CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Silent_p.A773A	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	773					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						CTCCTGAGGCCGGTGCCTCTG	0.682000														145			36		0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207741276	207741276	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:207741276C>T	uc001hfy.3	+	16	2850	c.2710C>T	c.(2710-2712)Cca>Tca	p.P904S	CR1_uc009xcl.1_Missense_Mutation_p.P454S|CR1_uc001hfx.3_Missense_Mutation_p.P1354S|CR1_uc021pij.1_Missense_Mutation_p.P904S|CR1_uc009xck.1_Missense_Mutation_p.P454S	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	904	Sushi 14.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	p.T904K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CGACCCCCACCCAGACAGAGG	0.537000														171			43		0	0	1	0	0
CYP3A7	1551	broad.mit.edu	37	7	99312248	99312248	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:99312248C>T	uc003uru.3	-	7	831	c.728G>A	c.(727-729)aGa>aAa	p.R243K	ZNF498_uc003urn.3_Intron|CYP3A7_uc003urs.3_Intron|CYP3A7_uc010lgg.3_Intron	NM_000765	NP_000756	P24462	CP3A7_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 7 (CYP3A7), mRNA.	243					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					TATAACTTTTCTTGGAAACAC	0.343000														88			18		0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30740881	30740881	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:30740881C>T	uc002dze.1	+	26	6500	c.6115C>T	c.(6115-6117)Cag>Tag	p.Q2039*	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Nonsense_Mutation_p.Q1834*	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	2039					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)			AAGACTCATCCAGTATGATTG	0.493000														68			20		0	0	1	0	0
RIPK3	11035	broad.mit.edu	37	14	24807743	24807743	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:24807743C>T	uc001wpb.3	-	3	712	c.502G>A	c.(502-504)Gga>Aga	p.G168R	RIPK3_uc001wpa.3_5'UTR|RIPK3_uc010alq.3_Non-coding_Transcript|RIPK3_uc010toi.2_5'UTR|RIPK3_uc010toj.1_3'UTR	NM_006871	NP_006862	Q9Y572	RIPK3_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 3 (RIPK3), mRNA.	168	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		TGTGAGCCTCCCTGAAATGTG	0.602000														51			40		0	0	1	0	0
FLRT1	23769	broad.mit.edu	37	11	63885270	63885270	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:63885270G>A	uc021qks.1	+	0	1531	c.1531G>A	c.(1531-1533)Gag>Aag	p.E511K	MACROD1_uc001nyh.3_Intron|FLRT1_uc001nyi.1_Missense_Mutation_p.E511K	NM_013280	NP_037412	Q9NZU1	FLRT1_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 1 (FLRT1), mRNA.	483					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						GGTCACCATGGAGACCAGCAA	0.582000														36			12		0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92734705	92734705	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:92734705G>A	uc003umf.3	-	2	976	c.706C>T	c.(706-708)Cat>Tat	p.H236Y	SAMD9_uc003umg.3_Missense_Mutation_p.H236Y|SAMD9_uc022ahg.1_Missense_Mutation_p.H236Y	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	236						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ACTCCAAAATGAATAGTGCCA	0.393000														113			49		0	0	1	0	0
S100Z	170591	broad.mit.edu	37	5	76173582	76173582	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:76173582C>T	uc003kep.1	+	3	555	c.225C>T	c.(223-225)ttC>ttT	p.F75F	S100Z_uc003keq.4_Silent_p.F75F	NM_130772	NP_570128	Q8WXG8	S100Z_HUMAN	Homo sapiens S100 calcium binding protein Z (S100Z), mRNA.	75	EF-hand 2.						calcium ion binding			large_intestine(1)|ovary(1)	2		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;8.91e-51)|Epithelial(54;5.43e-45)|all cancers(79;1.82e-40)		TTAATGAATTCGTGGTCATGG	0.378000														38			19		0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70064163	70064163	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:70064163G>T	uc010kak.3	+	25	3774	c.3498G>T	c.(3496-3498)caG>caT	p.Q1166H	BAI3_uc003pev.4_Missense_Mutation_p.Q1166H|BAI3_uc011dxx.2_Missense_Mutation_p.Q372H	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	1166					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.C1165F(1)		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)				GAAACTGTCAGGATCCCATCA	0.388000														22			19		1.40151e-16	1.42492e-16	1	1	0
KL	9365	broad.mit.edu	37	13	33635443	33635443	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr13:33635443C>T	uc001uus.3	+	3	2235	c.2227C>T	c.(2227-2229)Caa>Taa	p.Q743*	KL_uc001uur.1_3'UTR	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	Homo sapiens klotho (KL), mRNA.	743	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)		CCCTTTCTCCCAAAAGGACAA	0.483000														26			9		0	0	1	0	0
C8orf80	389643	broad.mit.edu	37	8	27888834	27888834	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:27888834C>T	uc003xgm.4	-	14	1977	c.1834G>A	c.(1834-1836)Gag>Aag	p.E612K		NM_001010906	NP_001010906	Q68CJ6	SLIP_HUMAN	Homo sapiens chromosome 8 open reading frame 80 (C8orf80), mRNA.	612						nucleus	GTP binding|GTPase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|skin(1)|stomach(1)	35		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181)		GTCATTTTCTCCTGCAGGGAC	0.428000														68			17		0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32768380	32768380	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr13:32768380C>T	uc001utx.3	+	28	4188	c.3692C>T	c.(3691-3693)tCc>tTc	p.S1231F	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	1231					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TACACAGGTTCCTACCAACTT	0.428000														29			17		0	0	1	0	0
TAB1	10454	broad.mit.edu	37	22	39772070	39772070	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:39772070C>T	uc003axr.3	+	1	1911	c.129C>T	c.(127-129)ttC>ttT	p.F43F	TAB1_uc003axo.4_Silent_p.F117F|TAB1_uc003axq.4_Silent_p.F117F|TAB1_uc003axs.4_Silent_p.F118F	NM_006116	NP_006107	Q15750	TAB1_HUMAN	Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 1 (TAB1), transcript variant alpha, mRNA.	0					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|activation of MAPKKK activity|innate immune response|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						TCTGGGCTTTCCTCTGGTTCG	0.632000														183			38		0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169158913	169158913	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:169158913A>T	uc003irp.3	-	30	4490	c.4198T>A	c.(4198-4200)Ttc>Atc	p.F1400I		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	1400							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)		GGTTGCTTGAAGGACAGCAAT	0.358000														23			7		0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162306998	162306998	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:162306998C>T	uc003iqh.3	-	15	2881	c.2445G>A	c.(2443-2445)aaG>aaA	p.K815K	FSTL5_uc003iqi.3_Silent_p.K814K|FSTL5_uc010iqv.3_Silent_p.K805K	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	815			K -> E (in dbSNP:rs17040982).			extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AGAGAGAGTCCTTGGAAGGTG	0.433000														58			22		0	0	1	0	0
GLP2R	9340	broad.mit.edu	37	17	9729409	9729409	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:9729409C>T	uc002gmd.1	+	0	29	c.29C>T	c.(28-30)cCt>cTt	p.P10L	GLP2R_uc010cog.1_Non-coding_Transcript	NM_004246	NP_004237	O95838	GLP2R_HUMAN	Homo sapiens glucagon-like peptide 2 receptor (GLP2R), mRNA.	10					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)	AGGGCAGGGCCTGGGAGAGGA	0.642000														2			11		0	0	1	0	0
CLEC4M	10332	broad.mit.edu	37	19	7830542	7830542	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:7830542C>T	uc010dvt.3	+	3	351	c.233C>T	c.(232-234)tCc>tTc	p.S78F	CLEC4M_uc010xjv.1_Missense_Mutation_p.S50F|CLEC4M_uc002mhy.2_Missense_Mutation_p.S22F|CLEC4M_uc002mih.3_Missense_Mutation_p.S78F|CLEC4M_uc010xjw.2_Missense_Mutation_p.S57F|CLEC4M_uc010dvs.3_Missense_Mutation_p.S77F|CLEC4M_uc010xjx.2_Missense_Mutation_p.S50F|CLEC4M_uc002mhz.3_Missense_Mutation_p.S78F|CLEC4M_uc002mic.3_Missense_Mutation_p.S50F|CLEC4M_uc002mia.3_Missense_Mutation_p.S57F	NM_001144909	NP_001138381	Q9H2X3	CLC4M_HUMAN	Homo sapiens C-type lectin domain family 4, member M (CLEC4M), transcript variant 9, mRNA.	78					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						GTCCCCAGCTCCCTAAGTCAG	0.507000														34			29		0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6978295	6978295	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr18:6978295C>T	uc002knm.3	-	42	6184	c.6090G>A	c.(6088-6090)gcG>gcA	p.A2030A	LAMA1_uc010wzj.2_Silent_p.A1506A	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	2030	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	p.A2030A(2)|p.A2030V(1)		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)	GGCTCAGCCCCGCCACGTCCC	0.552000														19			32		0	0	1	0	0
CYP3A7	1551	broad.mit.edu	37	7	99332660	99332660	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:99332660C>T	uc003uru.3	-	0	160	c.57G>A	c.(55-57)ctG>ctA	p.L19L	ZNF498_uc003urn.3_Intron|CYP3A7_uc003urs.3_5'UTR|CYP3A7_uc010lgg.3_Silent_p.L19L	NM_000765	NP_000756	P24462	CP3A7_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 7 (CYP3A7), mRNA.	19					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.L19L(2)|p.L19P(1)		autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					AGAGGAGTATCAGGCTGACAG	0.463000														55			41		0	0	1	0	0
DKK2	27123	broad.mit.edu	37	4	107845334	107845334	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:107845334G>A	uc003hyi.3	-	3	1262	c.557C>T	c.(556-558)tCa>tTa	p.S186L	DKK2_uc003hyj.1_3'UTR	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN	Homo sapiens dickkopf 2 homolog (Xenopus laevis) (DKK2), mRNA.	186	DKK-type Cys-2.				Wnt receptor signaling pathway|multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		GCAGTCTGATGATCGTAGGCA	0.453000														24			6		0	0	1	0	0
ZBTB46	140685	broad.mit.edu	37	20	62422069	62422069	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:62422069G>A	uc002ygv.2	-	1	243	c.42C>T	c.(40-42)taC>taT	p.Y14Y	ZBTB46_uc002ygu.3_Non-coding_Transcript	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	Homo sapiens zinc finger and BTB domain containing 46 (ZBTB46), mRNA.	14					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					GCAGGTGCCGGTAGTGGGACG	0.567000														21			12		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1157524	1157524	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:1157524C>T	uc021qbr.1	+	6	752	c.705C>T	c.(703-705)ttC>ttT	p.F235F				Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	231	VWFD 1.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCATGGAATTCGGGAACCTGC	0.637000														13			3		0	0	1	0	0
MICU1	10367	broad.mit.edu	37	10	74326545	74326545	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:74326545G>A	uc001jtb.2	-	1	190	c.7C>T	c.(7-9)Cgt>Tgt	p.R3C	MIR1256_uc021pth.1_Intron	NM_006077	NP_006068	Q9BPX6	MICU1_HUMAN	Homo sapiens mitochondrial calcium uptake 1 (MICU1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	3					calcium ion import|defense response|elevation of mitochondrial calcium ion concentration	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding										GAGTTCAGACGAAACATCCTG	0.433000														9			3		0	0	1	0	0
VSTM2A	222008	broad.mit.edu	37	7	54617801	54617801	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:54617801G>A	uc022adk.1	+	3	977	c.572G>A	c.(571-573)cGa>cAa	p.R191Q	VSTM2A_uc010kzf.3_Missense_Mutation_p.R191Q	NM_182546	NP_872352	Q8TAG5	VTM2A_HUMAN	Homo sapiens V-set and transmembrane domain containing 2A (VSTM2A), mRNA.	191						extracellular region		p.R191Q(2)|p.R190Q(2)		endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			GCCAACCAACGAACGCACTCC	0.547000														11			3		0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	131975995	131975995	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:131975995C>T	uc002tsn.2	+	0	72	c.20C>T	c.(19-21)tCc>tTc	p.S7F	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	7							ATP binding										GAGGTTGATTCCATGCCGGCT	0.537000														26			37		0	0	1	0	0
FAM19A1	407738	broad.mit.edu	37	3	68587923	68587923	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:68587923G>A	uc003dnd.3	+	3	492	c.276G>A	c.(274-276)ggG>ggA	p.G92G	FAM19A1_uc003dne.3_Silent_p.G92G|FAM19A1_uc003dng.3_Silent_p.G92G	NM_001252216	NP_001239145	Q7Z5A9	F19A1_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A1 (FAM19A1), transcript variant 2, mRNA.	92				G -> W (in Ref. 3; CAD28501).		endoplasmic reticulum|extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		TAGTGATTGGGAAATGGTGGT	0.453000														43			12		0	0	1	0	0
ZBTB4	57659	broad.mit.edu	37	17	7369506	7369506	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:7369506G>A	uc002ghc.4	-	2	865	c.615C>T	c.(613-615)ccC>ccT	p.P205P	ZBTB4_uc002ghd.4_Silent_p.P205P	NM_001128833	NP_065950	Q9P1Z0	ZBTB4_HUMAN	Homo sapiens zinc finger and BTB domain containing 4 (ZBTB4), transcript variant 2, mRNA.	205					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		GCCTGGGCCCGGGCCCAAAGC	0.721000														29			11		0	0	1	0	0
NYAP1	222950	broad.mit.edu	37	7	100085872	100085872	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:100085872C>T	uc003uvd.1	+	3	687	c.528C>T	c.(526-528)ttC>ttT	p.F176F	NYAP1_uc003uve.1_5'UTR	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 (NYAP1), mRNA.	176																	CTGTCTCCTTCGATGAGTCCT	0.657000														98			70		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9064799	9064799	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:9064799G>A	uc002mkp.3	-	2	22851	c.22647C>T	c.(22645-22647)acC>acT	p.T7549T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7551	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						TCTCTTCAGAGGTGCTGGTCT	0.463000														33			13		0	0	1	0	0
XPO5	57510	broad.mit.edu	37	6	43538391	43538391	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:43538391G>A	uc003ovp.3	-	4	680	c.469C>T	c.(469-471)Ctt>Ttt	p.L157F		NM_020750	NP_065801	Q9HAV4	XPO5_HUMAN	Homo sapiens exportin 5 (XPO5), mRNA.	157					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			AGTCGCAAAAGGATAAACATC	0.368000														48			9		0	0	1	0	0
GRIP1	23426	broad.mit.edu	37	12	66786546	66786546	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:66786546C>T	uc001stk.3	-	16	2265	c.2024G>A	c.(2023-2025)aGc>aAc	p.S675N	GRIP1_uc010sta.1_Missense_Mutation_p.S619N|GRIP1_uc001stj.3_Missense_Mutation_p.S457N|GRIP1_uc001stm.3_Missense_Mutation_p.S675N|GRIP1_uc001stl.1_Missense_Mutation_p.S567N	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA.	727	PDZ 6.				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)		CCCTTTCAAGCTGCTGCTATT	0.438000														64			22		0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628251	29628251	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	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														92			14		0	0	1	0	0
TMEM181	57583	broad.mit.edu	37	6	159029457	159029457	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:159029457C>T	uc003qrm.4	+	8	1188	c.1177C>T	c.(1177-1179)Ctc>Ttc	p.L393F	TMEM181_uc010kjr.1_Missense_Mutation_p.L224F|DQ586009_uc021zhn.1_5'Flank	NM_020823	NP_065874	Q9P2C4	TM181_HUMAN	Homo sapiens transmembrane protein 181 (TMEM181), mRNA.	393					pathogenesis	integral to membrane	toxin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		CGCCCTGCTGCTCTTCTGGCT	0.617000														51			31		0	0	1	0	0
BRD9	65980	broad.mit.edu	37	5	878596	878596	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:878596A>T	uc003jbq.3	-	10	1312	c.1145T>A	c.(1144-1146)tTt>tAt	p.F382Y	BRD9_uc003jbl.3_Missense_Mutation_p.F266Y|BRD9_uc003jbm.3_Non-coding_Transcript|BRD9_uc003jbn.3_Non-coding_Transcript|BRD9_uc011cmb.2_Missense_Mutation_p.F329Y|BRD9_uc003jbo.3_Missense_Mutation_p.F286Y|BRD9_uc003jbp.3_Missense_Mutation_p.F43Y|BRD9_uc011cmc.1_Non-coding_Transcript	NM_023924	NP_076413	Q9H8M2	BRD9_HUMAN	Homo sapiens bromodomain containing 9 (BRD9), transcript variant 1, mRNA.	382							nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			ACTGGAGAGAAAGGTGACTGG	0.572000														55			7		0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135651434	135651434	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:135651434C>T	uc003lbn.2	-	2	1036	c.814G>A	c.(814-816)Gat>Aat	p.D272N	TRPC7_uc010jef.2_Missense_Mutation_p.D263N|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_Intron|TRPC7_uc010jeh.2_Intron|TRPC7_uc010jei.2_Intron	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	272					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)			ACTACAAAATCCTTGCATTGC	0.493000														19			14		0	0	1	0	0
MYRIP	25924	broad.mit.edu	37	3	40231720	40231720	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:40231720G>A	uc003cka.3	+	9	1566	c.1431G>A	c.(1429-1431)agG>agA	p.R477R	MYRIP_uc010hhu.3_Non-coding_Transcript|MYRIP_uc010hhv.3_Silent_p.R477R|MYRIP_uc010hhw.3_Silent_p.R388R|MYRIP_uc011ayz.2_Silent_p.R290R|FLJ33065_uc003ckb.3_Intron	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN	Homo sapiens myosin VIIA and Rab interacting protein (MYRIP), mRNA.	477	Myosin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		GGTTGCAGAGGAAGGCCCCCA	0.622000														34			33		0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37282875	37282875	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:37282875G>A	uc001caz.2	-	12	2012	c.1877C>T	c.(1876-1878)tCt>tTt	p.S626F	GRIK3_uc001cba.1_Missense_Mutation_p.S626F	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	626					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)	CATCAGCTCAGACCCTGGGCG	0.537000														15			26		0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2812342	2812342	+	Missense_Mutation	SNP	C	T	T	rs115253860	by1000genomes	TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:2812342C>T	uc002crk.3	+	10	2362	c.1813C>T	c.(1813-1815)Cgg>Tgg	p.R605W	SRRM2_uc002crj.1_Missense_Mutation_p.R509W|SRRM2_uc002crl.1_Missense_Mutation_p.R605W|SRRM2_uc010bsu.1_Missense_Mutation_p.R509W	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	605	Arg-rich.|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						GCGTAGGTCTCGGTCTAGAAC	0.607000														44			21		0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62232944	62232944	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:62232944G>A	uc002agz.3	-	46	5594	c.5503C>T	c.(5503-5505)Cca>Tca	p.P1835S	VPS13C_uc002aha.3_Missense_Mutation_p.P1792S|VPS13C_uc002ahb.2_Missense_Mutation_p.P1835S|VPS13C_uc002ahc.2_Missense_Mutation_p.P1792S	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	1835					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ATGTTGACTGGTTTTAAAATT	0.328000														19			26		0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	95013640	95013640	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:95013640C>T	uc002btj.3	+	19	2504	c.2439C>T	c.(2437-2439)ttC>ttT	p.F813F	MCTP2_uc010boj.3_Silent_p.F542F|MCTP2_uc010bok.3_Silent_p.F758F|MCTP2_uc002btl.3_Silent_p.F401F	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	813					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	p.F813V(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TTTTGTATTTCATTCCACTGC	0.403000														79			70		0	0	1	0	0
PVRL1	5818	broad.mit.edu	37	11	119548317	119548317	+	Silent	SNP	G	A	A	rs144781194	byFrequency	TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:119548317G>A	uc001pwv.3	-	2	853	c.681C>T	c.(679-681)atC>atT	p.I227I	PVRL1_uc001pwu.1_Silent_p.I227I|PVRL1_uc001pww.3_Silent_p.I227I	NM_002855	NP_002846	Q15223	PVRL1_HUMAN	Homo sapiens poliovirus receptor-related 1 (herpesvirus entry mediator C) (PVRL1), transcript variant 1, mRNA.	227	Ig-like C2-type 1.				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)		GGTAGTTGACGATGCAGGCCA	0.632000														15			7		0	0	1	0	0
UGT3A2	167127	broad.mit.edu	37	5	36039616	36039616	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	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														34			49		0	0	1	0	0
RDBP	7936	broad.mit.edu	37	6	31922212	31922212	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:31922212A>T	uc003nyk.3	-	7	954	c.750T>A	c.(748-750)gaT>gaA	p.D250E	RDBP_uc011dot.2_Missense_Mutation_p.D220E	NM_002904	NP_002895	P18615	NELFE_HUMAN	Homo sapiens RD RNA binding protein (RDBP), mRNA.	250					positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	mitochondrion|nucleoplasm	RNA binding|nucleotide binding|protein binding			cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)	9						CAGGGAATGAATCCGACCCTT	0.488000														64			40		0	0	1	0	0
TRIM40	135644	broad.mit.edu	37	6	30114962	30114963	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:30114962_30114963GG>AA	uc003npk.2	+	3	1028_1029	c.642_643GG>AA	c.(640-645)aaggaa>aaAAaa	p.E215K	TRIM40_uc003npm.2_Missense_Mutation_p.E186K	NM_138700	NP_619645	Q6P9F5	TRI40_HUMAN	Homo sapiens tripartite motif containing 40 (TRIM40), mRNA.	215			E -> K (in dbSNP:rs757259).			intracellular	zinc ion binding			ovary(1)	1						GGACGGCCAAGGAATTAGACAC	0.564000														62			43		0	0	1	0	0
COL8A1	1295	broad.mit.edu	37	3	99513167	99513167	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:99513167G>A	uc003dti.1	+	2	553	c.425G>A	c.(424-426)gGg>gAg	p.G142E	MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Missense_Mutation_p.G141E|COL8A1_uc003dth.1_Missense_Mutation_p.G141E	NM_020351	NP_065084	P27658	CO8A1_HUMAN	Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA.	141	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						CCAGGTCATGGGATACCTGGA	0.567000														19			3		0	0	1	0	0
PON1	5444	broad.mit.edu	37	7	95001533	95001533	+	Missense_Mutation	SNP	C	T	T	rs2375003		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:95001533C>T	uc003unt.3	-	3	344	c.319G>A	c.(319-321)Gac>Aac	p.D107N	PON1_uc011kih.2_Intron|PON1_uc011kii.2_Missense_Mutation_p.D155N	NM_000940	NP_000931	P27169	PON1_HUMAN	Homo sapiens paraoxonase 3 (PON3), mRNA.	108					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	AATTCTTTGTCAAATCCACCA	0.398000														67			11		0	0	1	0	0
DGCR8	54487	broad.mit.edu	37	22	20074187	20074188	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:20074187_20074188CC>TT	uc002zri.3	+	1	1130_1131	c.701_702CC>TT	c.(700-702)gcc>gTT	p.A234V	DGCR8_uc010grz.3_Missense_Mutation_p.A234V|DGCR8_uc002zrj.3_5'Flank	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 8 (DGCR8), transcript variant 1, mRNA.	234	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					GATGAAGAGGCCTTGAATTTCC	0.470000														77			18		0	0	1	0	0
PLEKHM2	23207	broad.mit.edu	37	1	16060300	16060300	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:16060300C>T	uc010obo.2	+	19	3158	c.2931C>T	c.(2929-2931)ctC>ctT	p.L977L	SLC25A34_uc001axb.1_5'Flank	NM_015164	NP_055979	Q8IWE5	PKHM2_HUMAN	Homo sapiens pleckstrin homology domain containing, family M (with RUN domain) member 2 (PLEKHM2), mRNA.	977					Golgi organization	cytoplasm	kinesin binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		AGGTGGACCTCCCCCACACGG	0.632000														94			16		0	0	1	0	0
GCKR	2646	broad.mit.edu	37	2	27728607	27728607	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:27728607C>T	uc002rky.3	+	9	839	c.773C>T	c.(772-774)tCc>tTc	p.S258F	GCKR_uc010ezd.3_Missense_Mutation_p.S258F|GCKR_uc010ylu.2_Missense_Mutation_p.S68F	NM_001486	NP_001477	Q14397	GCKR_HUMAN	Homo sapiens glucokinase (hexokinase 4) regulator (GCKR), mRNA.	258	SIS 1.				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)					AGCGGCTCCTCCCGGATGAAA	0.547000														11			37		0	0	1	0	0
HNRNPA3P1	10151	broad.mit.edu	37	10	44285197	44285197	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:44285197C>T	uc010qfe.1	-	0	669	c.639G>A	c.(637-639)caG>caA	p.Q213Q						Homo sapiens heterogeneous nuclear ribonucleoprotein A3 pseudogene 1 (HNRNPA3P1), non-coding RNA.																		CACGACCCCTCTGTGATCCAG	0.458000														23			23		0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89351399	89351400	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:89351399_89351400GG>AA	uc002fmx.1	-	8	2011_2012	c.1550_1551CC>TT	c.(1549-1551)tcc>tTT	p.S517F	ANKRD11_uc002fmy.1_Missense_Mutation_p.S517F|ANKRD11_uc002fnc.1_Missense_Mutation_p.S517F|ANKRD11_uc002fnb.1_Missense_Mutation_p.S474F	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	517	Ser-rich.					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)		AGGCAGAGAGGGAGCTGAACAG	0.634000														31			13		0	0	1	0	0
STARD13	90627	broad.mit.edu	37	13	33703977	33703977	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr13:33703977C>T	uc001uuw.3	-	4	963	c.837G>A	c.(835-837)ggG>ggA	p.G279G	STARD13_uc001uuu.3_Silent_p.G271G|STARD13_uc001uuv.3_Silent_p.G161G|STARD13_uc001uux.3_Silent_p.G244G|STARD13_uc010abh.1_Silent_p.G264G|STARD13_uc021rhz.1_Silent_p.G271G|STARD13_uc021ria.1_Silent_p.G161G	NM_178006	NP_443083	Q9Y3M8	STA13_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA.	279					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CACCTGTCCGCCCAGACCCCT	0.552000														41			11		0	0	1	0	0
CRYBB3	1417	broad.mit.edu	37	22	25603032	25603032	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:25603032C>T	uc003abo.1	+	5	561	c.489C>T	c.(487-489)ttC>ttT	p.F163F		NM_004076	NP_004067	P26998	CRBB3_HUMAN	Homo sapiens crystallin, beta B3 (CRYBB3), mRNA.	163	Beta/gamma crystallin 'Greek key' 4.				visual perception		protein binding|structural constituent of eye lens			large_intestine(2)|lung(2)|prostate(1)	5						GCTATGAGTTCCCCGGCTACC	0.642000														77			13		0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60688775	60688775	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:60688775C>T	uc002sae.1	-	3	1500	c.1272G>A	c.(1270-1272)atG>atA	p.M424I	BCL11A_uc002sab.3_Missense_Mutation_p.M424I|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Missense_Mutation_p.M93I|BCL11A_uc010ypj.2_Missense_Mutation_p.M390I|BCL11A_uc002sad.1_Missense_Mutation_p.M272I|BCL11A_uc002saf.1_Missense_Mutation_p.M390I	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	424					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TGTGCGTCTTCATGTGGCGCT	0.652000			T	IGH@	B-CLL									29			37		0	0	1	0	0
DGKE	8526	broad.mit.edu	37	17	54935974	54935974	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:54935974G>A	uc002iur.3	+	8	1412	c.1232G>A	c.(1231-1233)gGa>gAa	p.G411E	DGKE_uc002ius.1_Missense_Mutation_p.G411E	NM_003647	NP_003638	P52429	DGKE_HUMAN	Homo sapiens diacylglycerol kinase, epsilon 64kDa (DGKE), mRNA.	411					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					TTATTCTATGGAACCAAAGAT	0.284000														32			27		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21437856	21437856	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr18:21437856G>A	uc002kuq.3	+	32	4271	c.4185G>A	c.(4183-4185)ggG>ggA	p.G1395G	LAMA3_uc002kur.3_Silent_p.G1395G	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	1395	Domain III B.|Laminin EGF-like 11.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.S1394S(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTGCTTCCGGGTTTTACCGCT	0.502000														30			50		0	0	1	0	0
LALBA	3906	broad.mit.edu	37	12	48963761	48963761	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:48963761G>A	uc001rrt.3	-	0	69	c.43C>T	c.(43-45)Cct>Tct	p.P15S		NM_002289	NP_002280	P00709	LALBA_HUMAN	Homo sapiens lactalbumin, alpha- (LALBA), mRNA.	15					cell-cell signaling|defense response to bacterium|induction of apoptosis|lactose biosynthetic process|signal transduction	extracellular space	calcium ion binding|lactose synthase activity			large_intestine(1)|stomach(2)	3						AGGATGGCAGGGAACAGGATG	0.468000														33			22		0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21793077	21793077	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:21793077C>T	uc001wag.3	+	13	2063	c.2063C>T	c.(2062-2064)tCg>tTg	p.S688L	RPGRIP1_uc001wah.3_Missense_Mutation_p.S330L|RPGRIP1_uc001wai.3_Intron|RPGRIP1_uc001waj.1_Missense_Mutation_p.S153L|RPGRIP1_uc001wak.3_Missense_Mutation_p.S163L|RPGRIP1_uc010aim.3_Missense_Mutation_p.S71L|RPGRIP1_uc001wal.3_Missense_Mutation_p.S47L|RPGRIP1_uc001wam.3_Missense_Mutation_p.S5L	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA.	688					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GAGACAGATTCGCTTTTCTTA	0.498000														79			38		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100679360	100679360	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:100679360C>T	uc003uxp.1	+	2	4716	c.4663C>T	c.(4663-4665)Cct>Tct	p.P1555S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1555	59 X approximate tandem repeats.|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)					CAGTTCATCTCCTACAACTGC	0.493000														219			69		0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121636504	121636504	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:121636504G>A	uc003vjy.3	+	8	1392	c.997G>A	c.(997-999)Gaa>Aaa	p.E333K	PTPRZ1_uc011knt.2_Missense_Mutation_p.E333K|PTPRZ1_uc003vjz.3_Missense_Mutation_p.E333K	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	333	Fibronectin type-III.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TGTTACATGGGAAAGACCTCG	0.403000														62			37		0	0	1	0	0
PNPLA6	10908	broad.mit.edu	37	19	7619109	7619109	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:7619109C>T	uc010xjq.2	+	21	2686	c.2446C>T	c.(2446-2448)Ctt>Ttt	p.L816F	PNPLA6_uc002mgq.2_Missense_Mutation_p.L768F|PNPLA6_uc010xjp.2_Missense_Mutation_p.L741F|PNPLA6_uc002mgr.2_Missense_Mutation_p.L768F|PNPLA6_uc002mgs.3_Missense_Mutation_p.L806F	NM_001166111	NP_001159583	Q8IY17	PLPL6_HUMAN	Homo sapiens patatin-like phospholipase domain containing 6 (PNPLA6), transcript variant 1, mRNA.	807					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						GACGCTACTCCTTAACAGTGA	0.627000														119			49		0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32188758	32188758	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:32188758G>A	uc003obb.3	-	3	935	c.796C>T	c.(796-798)Cca>Tca	p.P266S	NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc003obc.3_Missense_Mutation_p.P266S	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	266	EGF-like 6.				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			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						GACACACCTGGGGGACAGAGG	0.652000														78			33		0	0	1	0	0
SLC26A4	5172	broad.mit.edu	37	7	107315441	107315441	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:107315441C>T	uc003vep.3	+	5	876	c.652C>T	c.(652-654)Cct>Tct	p.P218S	Mir_548_uc022ajy.1_5'Flank	NM_000441	NP_000432	O43511	S26A4_HUMAN	Homo sapiens solute carrier family 26, member 4 (SLC26A4), mRNA.	218					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CTTGGCAGATCCTTTGGTTGG	0.408000									Pendred syndrome					128			36		0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	123780625	123780625	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:123780625T>A	uc010nqy.3	-	8	1679	c.1615A>T	c.(1615-1617)Aat>Tat	p.N539Y	ODZ1_uc011muj.2_Missense_Mutation_p.N538Y|ODZ1_uc004euj.3_Missense_Mutation_p.N539Y	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	539	EGF-like 1.				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						CACTCTCCATTTCCATTGCAA	0.378000														7			11		0	0	1	0	0
ERCC2	2068	broad.mit.edu	37	19	45856518	45856518	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:45856518G>A	uc002pbj.2	-	17	1787	c.1740C>T	c.(1738-1740)gcC>gcT	p.A580A	ERCC2_uc002pbh.2_Silent_p.A143A|ERCC2_uc002pbi.2_Silent_p.A273A|ERCC2_uc010ejz.2_Silent_p.A502A|ERCC2_uc002pbk.2_Silent_p.A556A	NM_000400	NP_000391	P18074	ERCC2_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 2 (ERCC2), transcript variant 1, mRNA.	580	Mediates interaction with MMS19.				UV protection|cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	MMXD complex|cytoplasm|holo TFIIH complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		ACTTCTCCAGGGCGACACTGG	0.612000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					12			7		0	0	1	0	0
PKP3	11187	broad.mit.edu	37	11	396968	396968	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:396968C>T	uc021qbk.1	+	3	541	c.512C>T	c.(511-513)cCc>cTc	p.P171L	PKP3_uc001lpc.3_Missense_Mutation_p.P156L	NM_007183	NP_009114	Q9Y446	PKP3_HUMAN	Homo sapiens plakophilin 3 (PKP3), mRNA.	156					cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-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;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)		CCCACCCCTCCCATGCCCACC	0.716000														9			3		0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76903282	76903282	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:76903282G>A	uc001oyb.2	+	30	4383	c.4111G>A	c.(4111-4113)Gtg>Atg	p.V1371M	MYO7A_uc010rsm.1_Missense_Mutation_p.V1360M|MYO7A_uc001oyc.2_Missense_Mutation_p.V1371M|MYO7A_uc009yus.1_Non-coding_Transcript|MYO7A_uc009yut.1_Missense_Mutation_p.V582M	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	1371	FERM 1.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CTACCAGCAGGTGGTGCGAGG	0.617000											OREG0021258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		45			20		0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134664755	134664755	+	Missense_Mutation	SNP	G	A	A	rs150206082		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:134664755G>A	uc021qbc.1	-	39	5730	c.5629C>T	c.(5629-5631)Ctc>Ttc	p.L1877F		NM_001200049	NP_001186978	Q8IYW2	CJ092_HUMAN	Homo sapiens tetratricopeptide repeat domain 40 (TTC40), mRNA.	38										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						ATTTCCACGAGGCCGAGCTTG	0.607000														36			9		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13919390	13919390	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:13919390C>T	uc003jfd.2	-	6	912	c.870G>A	c.(868-870)tgG>tgA	p.W290*	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	290	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.W290*(1)		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)					GTCTTTTTTTCCAGTGCTCCA	0.527000									Kartagener syndrome					248			49		0	0	1	0	0
AMDHD2	51005	broad.mit.edu	37	16	2579508	2579508	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:2579508C>T	uc010uwc.2	+	9	1361	c.1264C>T	c.(1264-1266)Cag>Tag	p.Q422*	AMDHD2_uc002cqp.3_Nonsense_Mutation_p.Q422*|AMDHD2_uc002cqq.3_Nonsense_Mutation_p.Q392*|AMDHD2_uc010uwd.2_Nonsense_Mutation_p.Q186*	NM_001145815	NP_001139287	Q9Y303	NAGA_HUMAN	Homo sapiens amidohydrolase domain containing 2 (AMDHD2), transcript variant 2, mRNA.	392					N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						CCTTCACGTCCAGGCCACCTA	0.667000														70			62		0	0	1	0	0
MAP3K14	9020	broad.mit.edu	37	17	43368078	43368078	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:43368078G>A	uc002iiw.1	-	1	143	c.34C>T	c.(34-36)Cct>Tct	p.P12S	MAP3K14_uc002iiv.1_5'UTR	NM_003954	NP_003945	Q99558	M3K14_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 14 (MAP3K14), mRNA.	12					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						GCTGAGCCAGGGGCACCTGGG	0.582000														86			11		0	0	1	0	0
ASB1	51665	broad.mit.edu	37	2	239353082	239353082	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:239353082C>T	uc002vyg.3	+	3	680	c.594C>T	c.(592-594)atC>atT	p.I198I		NM_001040445	NP_001035535	Q9Y576	ASB1_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 1 (ASB1), mRNA.	198					intracellular signal transduction|negative regulation of cytokine biosynthetic process					breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		CCTTGTACATCAGCGCAGCCT	0.597000														20			8		0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7188272	7188272	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:7188272G>A	uc003bqm.2	+	1	927	c.653G>A	c.(652-654)tGg>tAg	p.W218*	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Nonsense_Mutation_p.W218*|GRM7_uc003bql.2_Nonsense_Mutation_p.W218*	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	218					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GCCCTAGGCTGGAATTATGTG	0.522000														57			15		0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72222858	72222858	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:72222858G>A	uc010iic.3	+	5	801	c.684G>A	c.(682-684)ggG>ggA	p.G228G	SLC4A4_uc003hfy.3_Silent_p.G228G|SLC4A4_uc010iib.3_Silent_p.G228G|SLC4A4_uc003hfz.3_Silent_p.G228G|SLC4A4_uc003hgc.4_Silent_p.G184G|SLC4A4_uc003hga.2_Silent_p.G106G|SLC4A4_uc003hgb.3_Silent_p.G184G	NM_001134742	NP_001128214	Q9Y6R1	S4A4_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 4 (SLC4A4), transcript variant 3, mRNA.	228						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)			CTGACATTGGGAAGACAGTCT	0.463000														71			24		0	0	1	0	0
CECR1	51816	broad.mit.edu	37	22	17669279	17669279	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:17669279G>A	uc002zmk.1	-	5	1243	c.1031C>T	c.(1030-1032)cCc>cTc	p.P344L	CECR1_uc010gqu.1_Missense_Mutation_p.P344L|CECR1_uc011agi.1_Missense_Mutation_p.P302L|CECR1_uc002zmj.1_Missense_Mutation_p.P103L	NM_017424	NP_059120	Q9NZK5	CECR1_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 1 (CECR1), transcript variant 1, mRNA.	344					adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	Golgi apparatus|extracellular space	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				ATCCTTGGCGGGGATCATCAG	0.602000														43			19		0	0	1	0	0
TIMP2	7077	broad.mit.edu	37	17	76851924	76851924	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:76851924G>A	uc002jwf.3	-	4	790	c.488C>T	c.(487-489)cCg>cTg	p.P163L	TIMP2_uc002jwe.3_Missense_Mutation_p.P86L|TIMP2_uc010wty.2_Missense_Mutation_p.P86L	NM_003255	NP_003246	P16035	TIMP2_HUMAN	Homo sapiens TIMP metallopeptidase inhibitor 2 (TIMP2), mRNA.	163							metal ion binding|metalloendopeptidase inhibitor activity			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.194)			GATGTAGCACGGGATCATGGG	0.637000														79			12		0	0	1	0	0
ALB	213	broad.mit.edu	37	4	74282008	74282008	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:74282008G>A	uc003hgs.4	+	9	1300	c.1227G>A	c.(1225-1227)caG>caA	p.Q409Q	ALB_uc011cbe.2_Silent_p.Q88Q|ALB_uc003hgw.4_Silent_p.Q217Q|ALB_uc011cbf.2_Silent_p.Q299Q	NM_000477	NP_000468	P02768	ALBU_HUMAN	Homo sapiens albumin (ALB), mRNA.	409	Albumin 3.			Q -> E (in Ref. 14; AAH14308).	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			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)	AAGAGCCTCAGAATTTAATCA	0.318000														26			9		0	0	1	0	0
OR6C1	390321	broad.mit.edu	37	12	55714592	55714592	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:55714592C>T	uc010spi.2	+	0	209	c.209C>T	c.(208-210)tCg>tTg	p.S70L		NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 1 (OR6C1), mRNA.	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						TTAGAAATTTCGTTCACAACC	0.378000														28			14		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55582010	55582010	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:55582010G>A	uc010qhy.1	-	34	5892	c.5497C>T	c.(5497-5499)Cct>Tct	p.P1833S	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.P1828S|PCDH15_uc021pqz.1_Missense_Mutation_p.P1803S|PCDH15_uc010qhv.1_Missense_Mutation_p.P1823S|PCDH15_uc010qhw.1_Missense_Mutation_p.P1786S|PCDH15_uc010qhx.1_Missense_Mutation_p.P1757S|PCDH15_uc010qhz.1_Missense_Mutation_p.P1828S|PCDH15_uc010qia.1_Missense_Mutation_p.P1806S|PCDH15_uc001jju.1_Missense_Mutation_p.P1826S|PCDH15_uc010qib.1_Missense_Mutation_p.P1803S	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1826					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)				ggagggcaaggaatagaagga	0.473000										HNSCC(58;0.16)				30			17		0	0	1	0	0
DCLK2	166614	broad.mit.edu	37	4	151124995	151124995	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:151124995C>T	uc003ilo.4	+	5	1815	c.1061C>T	c.(1060-1062)tCc>tTc	p.S354F	DCLK2_uc003ilp.4_Non-coding_Transcript|DCLK2_uc003ilm.4_Missense_Mutation_p.S337F|DCLK2_uc003iln.4_Missense_Mutation_p.S337F	NM_001040261	NP_001035351	Q8N568	DCLK2_HUMAN	Homo sapiens doublecortin-like kinase 2 (DCLK2), transcript variant 2, mRNA.	337	Ser-rich.				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)					TCTACGAAATCCTCCAGTTCC	0.393000														28			6		0	0	1	0	0
ALX4	60529	broad.mit.edu	37	11	44297166	44297166	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:44297166G>A	uc001myb.3	-	1	613	c.509C>T	c.(508-510)tCt>tTt	p.S170F		NM_021926	NP_068745	Q9H161	ALX4_HUMAN	Homo sapiens ALX homeobox 4 (ALX4), mRNA.	170					hair follicle development					central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						CACAGTGTCAGAGTCAGGGGG	0.582000														47			11		0	0	1	0	0
KCNJ10	3766	broad.mit.edu	37	1	160011960	160011960	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:160011960G>A	uc001fuw.2	-	1	603	c.363C>T	c.(361-363)ttC>ttT	p.F121F		NM_002241	NP_002232	P78508	IRK10_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 10 (KCNJ10), mRNA.	121						integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATTCAAGGGAGAAGAGGAAGG	0.577000														59			37		0	0	1	0	0
CATSPERD	257062	broad.mit.edu	37	19	5749173	5749173	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:5749173C>T	uc002mda.3	+	10	1027	c.966C>T	c.(964-966)atC>atT	p.I322I	CATSPERD_uc010duj.1_5'UTR	NM_152784	NP_689997	Q86XM0	TM146_HUMAN	Homo sapiens transmembrane protein 146 (TMEM146), mRNA.	322						integral to membrane											ATCTGGGCATCGTGCCAAGTT	0.438000														27			15		0	0	1	0	0
ACLY	47	broad.mit.edu	37	17	40065902	40065902	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:40065902G>A	uc002hyg.3	-	4	560	c.397C>T	c.(397-399)Ctg>Ttg	p.L133L	ACLY_uc002hyh.3_Silent_p.L133L|ACLY_uc002hyi.3_Silent_p.L187L|ACLY_uc010wfx.2_Silent_p.L187L|ACLY_uc010wfy.2_Intron	NM_001096	NP_001087	P53396	ACLY_HUMAN	Homo sapiens ATP citrate lyase (ACLY), transcript variant 1, mRNA.	133					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				TGGTGGAACAGGACGTAGTCC	0.572000														57			8		0	0	1	0	0
KIAA0100	9703	broad.mit.edu	37	17	26943944	26943944	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:26943944G>A	uc002hbu.3	-	33	6087	c.5984C>T	c.(5983-5985)cCc>cTc	p.P1995L	SPAG5_uc010waq.1_5'Flank|SPAG5-AS1_uc021tts.1_Non-coding_Transcript|SPAG5_uc010war.1_5'Flank|SPAG5_uc010crq.2_5'Flank|SPAG5_uc021ttt.1_5'Flank	NM_014680	NP_055495	Q14667	K0100_HUMAN	Homo sapiens KIAA0100 (KIAA0100), mRNA.	1995						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)					CCCAACAGGGGGCCGAACTTT	0.537000														29			9		0	0	1	0	0
CD2	914	broad.mit.edu	37	1	117311293	117311293	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:117311293C>T	uc001egu.4	+	4	973	c.944C>T	c.(943-945)cCg>cTg	p.P315L		NM_001767	NP_001758	P06729	CD2_HUMAN	Homo sapiens CD2 molecule (CD2), mRNA.	315	Pro-rich.				T cell activation|blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	CCTCCTGCTCCGTCGGGCACA	0.622000														92			22		0	0	1	0	0
DNAJB4	11080	broad.mit.edu	37	1	78479070	78479070	+	Nonsense_Mutation	SNP	C	T	T	rs141666453		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:78479070C>T	uc001dij.3	+	1	706	c.547C>T	c.(547-549)Cga>Tga	p.R183*	DNAJB4_uc010orn.2_Nonsense_Mutation_p.R68*	NM_007034	NP_008965	Q9UDY4	DNJB4_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 4 (DNAJB4), mRNA.	183					protein folding|response to heat|response to unfolded protein	cytoplasm|plasma membrane	heat shock protein binding|unfolded protein binding	p.R183G(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						GAAGATTTCTCGAAAAAGGCT	0.398000														40			26		0	0	1	0	0
NOL3	8996	broad.mit.edu	37	16	67208748	67208748	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:67208748G>A	uc010vjd.2	+	2	703	c.510G>A	c.(508-510)caG>caA	p.Q170Q	NOL3_uc010vjc.2_Missense_Mutation_p.E174K|NOL3_uc002erp.3_Missense_Mutation_p.E174K	NM_001185057	NP_001171986	O60936	NOL3_HUMAN	Homo sapiens nucleolar protein 3 (apoptosis repressor with CARD domain) (NOL3), transcript variant 3, mRNA.	170					RNA splicing|anti-apoptosis|apoptosis|mRNA processing	cytosol|nucleolus	RNA binding|identical protein binding			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		gccagagccagagctggaacc	0.662000														6			12		0	0	1	0	0
SRCRB4D	136853	broad.mit.edu	37	7	76026867	76026867	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:76026867C>T	uc003ufb.3	-	5	1184	c.836G>A	c.(835-837)gGc>gAc	p.G279D	ZP3_uc003ufc.4_5'UTR	NM_080744	NP_542782	Q8WTU2	SRB4D_HUMAN	Homo sapiens scavenger receptor cysteine rich domain containing, group B (4 domains) (SRCRB4D), mRNA.	279	SRCR 2.					extracellular region|membrane	scavenger receptor activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						CTCGTGGTGGCCGCAGTTGTG	0.726000														8			14		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107078521	107078521	+	RNA	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:107078521C>T	uc021ser.1	-	135		c.6153G>A								Parts of antibodies, mostly variable regions.																		GACGATCCATCCTATCCACTC	0.522000														24			34		0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	155102488	155102488	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:155102488C>T	uc002tyt.4	+	4	954	c.850C>T	c.(850-852)Cct>Tct	p.P284S	GALNT13_uc002tyr.4_Missense_Mutation_p.P284S|GALNT13_uc010foc.1_Missense_Mutation_p.P103S|GALNT13_uc010fod.3_Missense_Mutation_p.P37S	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA.	284	Catalytic subdomain B.					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						CAGAACATTACCTGTCAGGTA	0.353000														13			15		0	0	1	0	0
STARD4	134429	broad.mit.edu	37	5	110835658	110835658	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:110835658G>A	uc003kph.1	-	5	628	c.544C>T	c.(544-546)Cct>Tct	p.P182S	STARD4_uc010jbw.1_Missense_Mutation_p.P84S|STARD4_uc010jbx.1_Missense_Mutation_p.P84S|STARD4_uc003kpi.1_Non-coding_Transcript	NM_139164	NP_631903	Q96DR4	STAR4_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 4 (STARD4), mRNA.	182	START.				lipid transport		lipid binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		GCAGACTGAGGAATCATCCCA	0.408000														60			16		0	0	1	0	0
PRKAG3	53632	broad.mit.edu	37	2	219695588	219695588	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:219695588C>T	uc002vjb.1	-	2	129	c.110G>A	c.(109-111)tGg>tAg	p.W37*	PRKAG3_uc010zkn.1_Non-coding_Transcript|PRKAG3_uc010fvy.1_Nonsense_Mutation_p.W37*|PRKAG3_uc010zko.1_Nonsense_Mutation_p.W37*	NM_017431	NP_059127	Q9UGI9	AAKG3_HUMAN	Homo sapiens protein kinase, AMP-activated, gamma 3 non-catalytic subunit (PRKAG3), mRNA.	37					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGTGATGGCCATGAGCTGCT	0.502000														29			43		0	0	1	0	0
NVL	4931	broad.mit.edu	37	1	224475589	224475589	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:224475589G>A	uc001hok.3	-	13	1744	c.1682C>T	c.(1681-1683)tCc>tTc	p.S561F	NVL_uc001hol.3_Missense_Mutation_p.S455F|NVL_uc010pvd.2_Missense_Mutation_p.S470F|NVL_uc010pve.2_Missense_Mutation_p.S372F|NVL_uc010pvf.2_Non-coding_Transcript	NM_002533	NP_002524	O15381	NVL_HUMAN	Homo sapiens nuclear VCP-like (NVL), transcript variant 1, mRNA.	561						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		TTGGACTGAGGATAGAGCAAC	0.493000														32			4		0	0	1	0	0
BEX1	55859	broad.mit.edu	37	X	102317923	102317923	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:102317923C>T	uc022cbj.1	-	0	280	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K	BEX1_uc004ejt.1_Missense_Mutation_p.E94K	NM_018476	NP_060946	Q9HBH7	BEX1_HUMAN	Homo sapiens brain expressed, X-linked 1 (BEX1), mRNA.	94					cell differentiation|nervous system development	cytoplasm|nucleus				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12						CTCAGCTTTTCCATCAGCTGT	0.493000														24			39		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179417578	179417578	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:179417578C>T	uc021vsy.1	-	283	82570	c.82345G>A	c.(82345-82347)Gaa>Aaa	p.E27449K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E21144K|TTN_uc021vta.1_Missense_Mutation_p.E21077K|TTN_uc021vtb.1_Missense_Mutation_p.E20952K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	28376							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)			TCACAGGGTTCCCCAATTCCA	0.428000														8			20		0	0	1	0	0
DGKZ	8525	broad.mit.edu	37	11	46398649	46398649	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:46398649C>T	uc001ncn.1	+	25	2918	c.2793C>T	c.(2791-2793)atC>atT	p.I931I	DGKZ_uc001nch.2_Silent_p.I759I|DGKZ_uc010rgq.2_Silent_p.I725I|DGKZ_uc010rgr.2_Silent_p.I747I|DGKZ_uc001ncj.2_Silent_p.I709I|DGKZ_uc001nck.2_Silent_p.I521I|DGKZ_uc001ncm.2_Silent_p.I742I|DGKZ_uc001ncl.2_Silent_p.I743I|DGKZ_uc009yky.1_Silent_p.I743I|DGKZ_uc010rgs.1_Silent_p.I720I	NM_001105540	NP_001099010	Q13574	DGKZ_HUMAN	Homo sapiens diacylglycerol kinase, zeta (DGKZ), transcript variant 4, mRNA.	931					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein C-terminus binding|protein binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		TGACTGAGATCGCACAGGATG	0.652000														34			7		0	0	1	0	0
RGS9	8787	broad.mit.edu	37	17	63221195	63221195	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:63221195C>T	uc002jfe.3	+	17	1686	c.1483C>T	c.(1483-1485)Ccc>Tcc	p.P495S	RGS9_uc010dem.3_Missense_Mutation_p.P492S|RGS9_uc002jfd.3_Missense_Mutation_p.P492S|RGS9_uc002jfg.3_Missense_Mutation_p.P266S	NM_003835	NP_003826	O75916	RGS9_HUMAN	Homo sapiens regulator of G-protein signaling 9 (RGS9), transcript variant 1, mRNA.	495					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						TCCTTCTAGCCCCTTCTCCTC	0.647000														220			33		0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	43972186	43972186	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:43972186G>A	uc003bdy.2	-	25	3725	c.3411C>T	c.(3409-3411)ttC>ttT	p.F1137F	EFCAB6_uc003bdz.2_Silent_p.F985F|EFCAB6_uc010gzi.2_Silent_p.F985F|EFCAB6_uc010gzj.1_Silent_p.F363F	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	1137					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)				CCTCCTCAAGGAAACAGCTAA	0.313000														41			5		0	0	1	0	0
SLITRK2	84631	broad.mit.edu	37	X	144904339	144904339	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:144904339C>T	uc022cfn.1	+	0	396	c.396C>T	c.(394-396)ggC>ggT	p.G132G	SLITRK2_uc004fcd.3_Silent_p.G132G|SLITRK2_uc010nsp.3_Silent_p.G132G|SLITRK2_uc010nso.3_Silent_p.G132G|SLITRK2_uc011mwq.2_Silent_p.G132G|SLITRK2_uc011mwr.2_Silent_p.G132G|SLITRK2_uc011mws.2_Silent_p.G132G|SLITRK2_uc004fcg.3_Silent_p.G132G|SLITRK2_uc011mwt.2_Silent_p.G132G	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	Homo sapiens SLIT and NTRK-like family, member 2 (SLITRK2), transcript variant 1, mRNA.	132						integral to membrane		p.G132S(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTCCTAGGCCTGGAGAGCC	0.502000														12			31		0	0	1	0	0
XKR4	114786	broad.mit.edu	37	8	56435946	56435946	+	Silent	SNP	C	G	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:56435946C>G	uc003xsf.3	+	2	1145	c.1113C>G	c.(1111-1113)gcC>gcG	p.A371A		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA.	371						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			GCTACATGGCCGTCATCATCC	0.587000														42			30		0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167245757	167245757	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:167245757G>C	uc003fev.1	-	10	1703	c.1399C>G	c.(1399-1401)Ctg>Gtg	p.L467V	WDR49_uc003feu.1_Missense_Mutation_p.L292V|WDR49_uc011bpd.1_Intron|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	Homo sapiens WD repeat domain 49 (WDR49), mRNA.	467										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						GATCTTATCAGAGTTGGGGCC	0.398000														55			14		0	0	1	0	0
AKAP13	11214	broad.mit.edu	37	15	86124902	86124902	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:86124902C>T	uc002blv.1	+	6	3773	c.3603C>T	c.(3601-3603)ctC>ctT	p.L1201L	AKAP13_uc002blt.1_Silent_p.L1201L|AKAP13_uc002blu.1_Silent_p.L1201L|AKAP13_uc010bne.1_5'Flank	NM_007200	NP_009131	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.	1201					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						ACATGGAGCTCTCAGCCCATG	0.587000														41			14		0	0	1	0	0
COL16A1	1307	broad.mit.edu	37	1	32148937	32148937	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:32148937G>A	uc001btk.1	-	34	2778	c.2413C>T	c.(2413-2415)Cag>Tag	p.Q805*	COL16A1_uc001btj.1_Nonsense_Mutation_p.Q634*|COL16A1_uc001btl.4_Nonsense_Mutation_p.Q805*	NM_001856	NP_001847	Q07092	COGA1_HUMAN	Homo sapiens collagen, type XVI, alpha 1 (COL16A1), mRNA.	805	Triple-helical region 5 (COL5) with 3 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		AGACGTACCTGAATGCCAGGC	0.612000														304			132		0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234681093	234681093	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:234681093C>T	uc002vuw.3	+	4	1493	c.1493C>T	c.(1492-1494)gCc>gTc	p.A498V	UGT1A1_uc002vup.3_Missense_Mutation_p.A494V|UGT1A1_uc002vur.3_Missense_Mutation_p.A494V|UGT1A1_uc002vus.3_Missense_Mutation_p.A494V|UGT1A1_uc002vut.3_Missense_Mutation_p.A494V|UGT1A1_uc002vuu.3_Missense_Mutation_p.A229V|UGT1A1_uc002vuv.4_Missense_Mutation_p.A496V|UGT1A1_uc002vux.3_Missense_Mutation_p.A498V|UGT1A1_uc002vuy.3_Missense_Mutation_p.A498V|UGT1A1_uc002vva.3_Non-coding_Transcript|UGT1A1_uc002vvb.3_Missense_Mutation_p.A497V	NM_019078	NP_061951	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A5 (UGT1A5), mRNA.	497					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)	TTCCTCTTGGCCGTCGTGCTG	0.542000														24			49		0	0	1	0	0
XKR6	286046	broad.mit.edu	37	8	10756072	10756072	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:10756072C>T	uc003wtk.1	-	2	1343	c.1316G>A	c.(1315-1317)cGa>cAa	p.R439Q		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 6 (XKR6), transcript variant 2, mRNA.	439						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		CATTCGATATCGAGTCCGCCC	0.463000														18			9		0	0	1	0	0
COPS5	10987	broad.mit.edu	37	8	67968826	67968827	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:67968826_67968827GG>AA	uc003xxf.3	-	6	894_895	c.721_722CC>TT	c.(721-723)cct>TTt	p.P241F	COPS5_uc003xxd.3_Missense_Mutation_p.P132F|COPS5_uc003xxe.3_Missense_Mutation_p.P196F|COPS5_uc010lyu.1_Non-coding_Transcript|COPS5_uc010lyv.1_Missense_Mutation_p.P196F			Q92905	CSN5_HUMAN	Homo sapiens COP9 constitutive photomorphogenic homolog subunit 5 (Arabidopsis) (COPS5), mRNA.	196					cullin deneddylation|transcription from RNA polymerase II promoter	eukaryotic translation initiation factor 3 complex|signalosome	metal ion binding|metallopeptidase activity|protein binding|transcription coactivator activity|translation initiation factor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(3)	14	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TCCTTCATCAGGAGGTTTGTAG	0.257000														28			14		0	0	1	0	0
ASAP2	8853	broad.mit.edu	37	2	9528646	9528646	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:9528646C>T	uc002qzh.2	+	21	2694	c.2354C>T	c.(2353-2355)cCc>cTc	p.P785L	ASAP2_uc002qzi.2_Missense_Mutation_p.P785L	NM_003887	NP_003878	O43150	ASAP2_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 (ASAP2), transcript variant 1, mRNA.	785	Pro-rich.				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						ACCAGCGCCCCCCCGCTTCCT	0.577000														17			25		0	0	1	0	0
OR2M4	26245	broad.mit.edu	37	1	248402633	248402633	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:248402633C>T	uc010pzh.2	+	0	403	c.403C>T	c.(403-405)Ctc>Ttc	p.L135F		NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 4 (OR2M4), mRNA.	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|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;0.0245)			GTACACCATCCTCATGAATCC	0.463000														17			21		0	0	1	0	0
HKDC1	80201	broad.mit.edu	37	10	70992863	70992863	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:70992863C>T	uc001jpf.4	+	3	602	c.469C>T	c.(469-471)Ccc>Tcc	p.P157S	HKDC1_uc010qje.2_Missense_Mutation_p.P20S	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	Homo sapiens hexokinase domain containing 1 (HKDC1), mRNA.	157	Glucose-binding (Potential).				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						TTTTTCTTTCCCCTGTCGACA	0.502000														66			20		0	0	1	0	0
ANKRD29	147463	broad.mit.edu	37	18	21209916	21209916	+	Splice_Site	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr18:21209916C>T	uc002kun.3	-	6	585	c.430_splice	c.e6-1	p.D144_splice	ANKRD29_uc002kuo.3_Splice_Site_p.D144_splice	NM_173505	NP_775776	Q8N6D5	ANR29_HUMAN	Homo sapiens ankyrin repeat domain 29 (ANKRD29), mRNA.	144										breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)	13	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TGGCTCCATCCTGAGAGAGAA	0.448000														8			8		0	0	1	0	0
USP24	23358	broad.mit.edu	37	1	55598348	55598348	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:55598348G>A	uc021onw.1	-	30	3660	c.3407C>T	c.(3406-3408)tCt>tTt	p.S1136F	USP24_uc001cyg.4_Missense_Mutation_p.S970F	NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	Homo sapiens ubiquitin specific peptidase 24 (USP24), mRNA.	1136	Ser-rich.				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						TGAGGACTGAGAACTTGATTC	0.383000														23			7		0	0	1	0	0
TRIML2	205860	broad.mit.edu	37	4	189022389	189022389	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:189022389A>T	uc011cle.1	-	2	523	c.301T>A	c.(301-303)Ttt>Att	p.F101I	TRIML2_uc003izj.1_5'UTR|TRIML2_uc003izk.1_5'UTR|TRIML2_uc003izl.2_Missense_Mutation_p.F51I|TRIML2_uc011clf.1_Missense_Mutation_p.F101I	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA.	51							ligase activity	p.E100K(2)		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)		ATCTTTTTAAAATTTTGTTCC	0.358000														15			9		0	0	1	0	0
TLR3	7098	broad.mit.edu	37	4	187004080	187004080	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:187004080C>T	uc003iyq.3	+	3	1341	c.1240C>T	c.(1240-1242)Cta>Tta	p.L414L	TLR3_uc011ckz.2_Silent_p.L137L|TLR3_uc003iyr.3_Silent_p.L137L	NM_003265	NP_003256	O15455	TLR3_HUMAN	Homo sapiens toll-like receptor 3 (TLR3), mRNA.	414					I-kappaB phosphorylation|MyD88-independent toll-like receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|inflammatory response|innate immune response|negative regulation of osteoclast differentiation|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-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-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;0.0066)|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;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		CATACTCAACCTAACCAAGAA	0.383000														9			5		0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152128490	152128490	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:152128490C>T	uc001ezs.1	-	2	1150	c.1085G>A	c.(1084-1086)gGc>gAc	p.G362D		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	362	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						GGAACCCTGGCCTTGTCTGTT	0.478000														370			277		0	0	1	0	0
OR2AG2	338755	broad.mit.edu	37	11	6789526	6789526	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:6789526G>A	uc001meq.1	-	0	663	c.663C>T	c.(661-663)gtC>gtT	p.V221V		NM_001004490	NP_001004490	A6NM03	O2AG2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AG, member 2 (OR2AG2), mRNA.	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CAGTGAATAGGACTAGTGTGT	0.498000														15			7		0	0	1	0	0
SEC14L3	266629	broad.mit.edu	37	22	30862971	30862971	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:30862971C>T	uc003ahy.3	-	5	606	c.517G>A	c.(517-519)Gag>Aag	p.E173K	SEC14L3_uc003ahz.3_Missense_Mutation_p.E96K|SEC14L3_uc003aia.3_Missense_Mutation_p.E114K|SEC14L3_uc003aib.3_Missense_Mutation_p.E114K	NM_174975	NP_777635	Q9UDX4	S14L3_HUMAN	Homo sapiens SEC14-like 3 (S. cerevisiae) (SEC14L3), mRNA.	173	CRAL-TRIO.					integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	CTCCTTACCTCCTGGTACACT	0.502000														36			11		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30935963	30935963	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:30935963G>A	uc002nsu.1	+	1	1632	c.1494G>A	c.(1492-1494)ctG>ctA	p.L498L	ZNF536_uc010edd.1_Silent_p.L498L	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	498					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)					TGCCGCCGCTGAAATCCAGCT	0.667000														45			27		0	0	1	0	0
TSG101	7251	broad.mit.edu	37	11	18537661	18537662	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:18537661_18537662GG>AA	uc001mor.3	-	2	317_318	c.177_178CC>TT	c.(175-180)atccct>atTTct	p.P60S	TSG101_uc001mos.2_Missense_Mutation_p.P8S|TSG101_uc009yhs.2_Non-coding_Transcript	NM_006292	NP_006283	Q99816	TS101_HUMAN	Homo sapiens tumor susceptibility gene 101 (TSG101), mRNA.	60	UEV.				cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	DNA binding|calcium-dependent protein binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						TAAGGCACAGGGATTGTTCCAG	0.342000														18			8		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13922221	13922221	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:13922221C>T	uc003jfd.2	-	4	697	c.655G>A	c.(655-657)Gag>Aag	p.E219K	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	219	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)					CTCACCTTCTCCTTCAGACTC	0.488000									Kartagener syndrome					15			13		0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220354476	220354476	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:220354476C>T	uc010fwg.3	+	35	8736	c.8736C>T	c.(8734-8736)gcC>gcT	p.A2912A		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	2912	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CACCACCAGCCCCTGAGCCCC	0.627000														25			69		0	0	1	0	0
NEK10	152110	broad.mit.edu	37	3	27161293	27161293	+	Missense_Mutation	SNP	G	A	A	rs147586444		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:27161293G>A	uc010hfk.3	-	13	1484	c.1255C>T	c.(1255-1257)Cgt>Tgt	p.R419C	NEK10_uc010hfj.3_Missense_Mutation_p.R362C			Q6ZWH5	NEK10_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 10 (NEK10), mRNA.	1107							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R1107C(1)|p.R1060C(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CCGGATGAACGATGTAATAAA	0.393000														52			10		0	0	1	0	0
COL6A5	256076	broad.mit.edu	37	3	130159278	130159278	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:130159278C>T	uc010htj.1	+	34	6590	c.6096C>T	c.(6094-6096)ttC>ttT	p.F2032F	COL6A5_uc010hti.1_Non-coding_Transcript|COL6A5_uc021xdz.1_Silent_p.F71F|COL6A5_uc010htk.1_Silent_p.F71F	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	2032	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion	collagen		p.D2031V(1)		endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						AGTTTGATTTCATCACTTATG	0.418000														28			27		0	0	1	0	0
SULF1	23213	broad.mit.edu	37	8	70539514	70539514	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:70539514G>A	uc003xyg.2	+	14	2481	c.1920G>A	c.(1918-1920)aaG>aaA	p.K640K	SULF1_uc010lza.1_Silent_p.K640K|SULF1_uc003xyd.2_Silent_p.K640K|SULF1_uc003xye.2_Silent_p.K640K|SULF1_uc003xyf.2_Silent_p.K640K|SULF1_uc003xyh.1_Non-coding_Transcript|SULF1_uc003xyi.1_5'Flank	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.	640					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GAGCGTGGAAGGACCATAAGG	0.453000														19			7		0	0	1	0	0
CREB3L3	84699	broad.mit.edu	37	19	4157161	4157162	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:4157161_4157162CC>TT	uc002lzl.3	+	2	442_443	c.326_327CC>TT	c.(325-327)tcc>tTT	p.S109F	CREB3L3_uc002lzm.3_Missense_Mutation_p.S99F|CREB3L3_uc010xib.2_Missense_Mutation_p.S100F|CREB3L3_uc010xic.2_Missense_Mutation_p.S100F	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 3 (CREB3L3), mRNA.	109					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)		CCAGCCACCTCCCCCGCCGGCT	0.668000														49			22		0	0	1	0	0
CCDC63	160762	broad.mit.edu	37	12	111319064	111319064	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:111319064C>T	uc001trv.1	+	6	1012	c.817C>T	c.(817-819)Cgc>Tgc	p.R273C	CCDC63_uc009zvt.1_3'UTR|CCDC63_uc010sye.1_Missense_Mutation_p.R233C|CCDC63_uc001trw.1_Missense_Mutation_p.R188C	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN	Homo sapiens coiled-coil domain containing 63 (CCDC63), mRNA.	273										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						GCTGAATGATCGCAATGAATT	0.517000														12			13		0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139601619	139601619	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:139601619C>G	uc003yvd.3	-	64	5205	c.4758G>C	c.(4756-4758)gaG>gaC	p.E1586D	COL22A1_uc011ljo.2_Missense_Mutation_p.E866D	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	1586	Collagen-like 16.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTGGTCCTGTCTCCCCTTGAG	0.617000										HNSCC(7;0.00092)				13			12		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123985898	123985898	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:123985898G>A	uc001lfv.3	+	12	7986	c.7626G>A	c.(7624-7626)ccG>ccA	p.P2542P	TACC2_uc001lfw.3_Silent_p.P688P|TACC2_uc009xzx.3_Silent_p.P2497P|TACC2_uc010qtv.2_Silent_p.P2546P|TACC2_uc001lfx.3_Silent_p.P246P|TACC2_uc001lfy.3_Silent_p.P242P|TACC2_uc001lfz.3_Silent_p.P620P|TACC2_uc001lga.3_Silent_p.P620P|TACC2_uc009xzy.3_Silent_p.P632P|TACC2_uc001lgb.3_Silent_p.P577P|TACC2_uc010qtw.1_Silent_p.P637P	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	2542						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				ACGATGCCCCGAAGAAGCAGG	0.537000														18			6		0	0	1	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50190616	50190616	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:50190616G>A	uc009zlk.2	-	7	1229	c.1027C>T	c.(1027-1029)Ctg>Ttg	p.L343L	NCKAP5L_uc001rvc.3_5'Flank|NCKAP5L_uc001rvb.2_5'UTR	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN	Homo sapiens NCK-associated protein 5-like (NCKAP5L), mRNA.	339	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GCCCCGGCCAGGAAGGCCTGT	0.657000														26			8		0	0	1	0	0
FAM125B	89853	broad.mit.edu	37	9	129154390	129154390	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:129154390C>T	uc004bqh.2	+	4	541	c.455C>T	c.(454-456)cCa>cTa	p.P152L	FAM125B_uc004bqg.2_Missense_Mutation_p.P152L|FAM125B_uc011lzy.2_Missense_Mutation_p.P137L|FAM125B_uc010mxd.3_Missense_Mutation_p.P145L|FAM125B_uc011lzz.1_Missense_Mutation_p.P145L	NM_033446	NP_258257	Q9H7P6	F125B_HUMAN	Homo sapiens family with sequence similarity 125, member B (FAM125B), transcript variant 1, mRNA.	152	MABP.				protein transport	late endosome membrane				kidney(1)|large_intestine(4)|lung(4)|urinary_tract(1)	10						AAATTTATTCCACGGGATTCA	0.453000														120			47		0	0	1	0	0
MST1P9	11223	broad.mit.edu	37	1	17085780	17085780	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:17085780G>A	uc010ock.2	-	7	1041	c.1041C>T	c.(1039-1041)gaC>gaT	p.D347D	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_5'UTR					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.											breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						GCCGCACGTCGTCTGTACAAC	0.692000														46			4		0	0	1	0	0
SLC20A1	6574	broad.mit.edu	37	2	113420516	113420516	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:113420516A>T	uc002tib.3	+	10	2493	c.1954A>T	c.(1954-1956)Atg>Ttg	p.M652L		NM_005415	NP_005406	Q8WUM9	S20A1_HUMAN	Homo sapiens solute carrier family 20 (phosphate transporter), member 1 (SLC20A1), mRNA.	652					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						TAACATTTTTATGGCCTGGTT	0.473000														52			21		0	0	1	0	0
SORBS2	8470	broad.mit.edu	37	4	186544089	186544089	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:186544089C>T	uc003iyg.3	-	12	2856	c.2824G>A	c.(2824-2826)Gac>Aac	p.D942N	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.D928N|SORBS2_uc003iyl.3_Missense_Mutation_p.D828N|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.2_Intron|SORBS2_uc011ckv.2_Missense_Mutation_p.D732N|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.	828	SH3 2.					Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.G941E(1)		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)		CCGCCACGGTCTTGGTGGTGG	0.527000														34			19		0	0	1	0	0
STARD10	10809	broad.mit.edu	37	11	72492130	72492130	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:72492130A>C	uc001osy.3	-	1	281	c.97T>G	c.(97-99)Ttc>Gtc	p.F33V	ARAP1_uc001osv.3_Intron|STARD10_uc001osz.4_Missense_Mutation_p.F33V|STARD10_uc001ota.3_Intron|STARD10_uc001otb.3_Missense_Mutation_p.F33V|MIR4692_uc021qmz.1_5'Flank	NM_006645	NP_006636	Q9Y365	PCTL_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 10 (STARD10), mRNA.	33	START.									endometrium(4)|large_intestine(1)|lung(2)|prostate(1)	8			BRCA - Breast invasive adenocarcinoma(5;7.08e-07)			TCTGACCGGAAGCTGCGAAAG	0.642000														70			20		0	0	1	0	0
ZNF48	197407	broad.mit.edu	37	16	30409857	30409857	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:30409857T>C	uc002dya.2	+	1	1662	c.1286T>C	c.(1285-1287)tTg>tCg	p.L429S	ZNF48_uc021tgi.1_Missense_Mutation_p.L429S|ZNF48_uc021tgj.1_Missense_Mutation_p.L306S|ZNF48_uc021tgk.1_Missense_Mutation_p.L429S	NM_152652	NP_001201836	Q96MX3	ZNF48_HUMAN	Homo sapiens zinc finger protein 48 (ZNF48), transcript variant 1, mRNA.	429	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						CTGCCTGGCTTGGAGCCAGAG	0.697000														29			33		0	0	1	0	0
MYOG	4656	broad.mit.edu	37	1	203054943	203054943	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:203054943G>A	uc001gzd.3	-	0	435	c.147C>T	c.(145-147)ccC>ccT	p.P49P		NM_002479	NP_002470	P15173	MYOG_HUMAN	Homo sapiens myogenin (myogenic factor 4) (MYOG), mRNA.	49					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|urinary_tract(1)	12						TGTCCTCAAGGGGCCCTGGGG	0.657000														76			45		0	0	1	0	0
LRRC8D	55144	broad.mit.edu	37	1	90400075	90400075	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:90400075C>T	uc021opq.1	+	0	1448	c.1448C>T	c.(1447-1449)cCc>cTc	p.P483L	LRRC8D_uc001dnm.3_Missense_Mutation_p.P483L|LRRC8D_uc001dnn.3_Missense_Mutation_p.P483L	NM_018103	NP_060573	Q7L1W4	LRC8D_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member D (LRRC8D), transcript variant 2, mRNA.	483						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)		TCGGGGGTGCCCGATGCTGTC	0.463000														33			9		0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167246952	167246952	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:167246952G>A	uc003fev.1	-	9	1542	c.1238C>T	c.(1237-1239)gCt>gTt	p.A413V	WDR49_uc003feu.1_Missense_Mutation_p.A238V|WDR49_uc011bpd.1_Missense_Mutation_p.A477V|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	Homo sapiens WD repeat domain 49 (WDR49), mRNA.	413										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						CAAAAATTCAGCCAGAAGTTG	0.383000														41			9		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151945268	151945268	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:151945268C>T	uc003wla.3	-	13	2470	c.2251G>A	c.(2251-2253)Gat>Aat	p.D751N		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	751					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)		TATGAAACATCTTTCACACAA	0.388000			N		medulloblastoma									148			8		0	0	1	0	0
SLC6A18	348932	broad.mit.edu	37	5	1239656	1239656	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:1239656T>C	uc003jby.2	+	5	947	c.824T>C	c.(823-825)tTt>tCt	p.F275S		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA.	275					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CACATCGCTTTTGCAAGTTAC	0.577000														84			17		0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78444685	78444685	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:78444685C>T	uc001syp.3	+	10	2447	c.2274C>T	c.(2272-2274)tcC>tcT	p.S758S	NAV3_uc001syo.3_Silent_p.S758S|NAV3_uc010sub.2_Silent_p.S258S	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	758						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.S758Y(1)		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						ATGCTCCCTCCCTGGGTGCTG	0.582000										HNSCC(70;0.22)				29			4		0	0	1	0	0
FAM83F	113828	broad.mit.edu	37	22	40417534	40417534	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:40417534G>A	uc003ayk.1	+	3	1114	c.1020G>A	c.(1018-1020)atG>atA	p.M340I		NM_138435	NP_612444	Q8NEG4	FA83F_HUMAN	Homo sapiens family with sequence similarity 83, member F (FAM83F), mRNA.	340										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						CTGGGGAGATGATGCGCTGGG	0.697000														58			27		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10399471	10399471	+	Splice_Site	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:10399471C>T	uc002gmo.3	-	35	5060	c.4966_splice	c.e35-1	p.D1656_splice	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1656						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						GCTGGGTATCCTGTGGAACAA	0.542000														12			17		0	0	1	0	0
SLC24A3	57419	broad.mit.edu	37	20	19664914	19664914	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:19664914C>T	uc002wrl.3	+	10	1193	c.996C>T	c.(994-996)atC>atT	p.I332I		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	332						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GCCTTCGAATCATGATAACCA	0.547000														14			20		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9067633	9067633	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:9067633C>T	uc002mkp.3	-	2	20017	c.19813G>A	c.(19813-19815)Gaa>Aaa	p.E6605K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6607	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						GAATAAGATTCCTTTTCAGAA	0.423000														79			34		0	0	1	0	0
PRSS1	5644	broad.mit.edu	37	7	142458485	142458485	+	Silent	SNP	C	T	T	rs145133152	by1000genomes	TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:142458485C>T	uc003wak.2	+	1	137	c.120C>T	c.(118-120)tcC>tcT	p.S40S	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|PRSS1_uc011ksm.1_Missense_Mutation_p.P16S|PRSS1_uc003wam.2_5'Flank	NM_002769	NP_002760	P07477	TRY1_HUMAN	Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA.	40	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			ACCAGGTGTCCCTGAATTCTG	0.557000														136			6		0	0	1	0	0
XAGE5	170627	broad.mit.edu	37	X	52844184	52844184	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:52844184C>T	uc004drd.1	+	3	312	c.247C>T	c.(247-249)Cct>Tct	p.P83S		NM_130775	NP_570131	Q8WWM1	GAGD5_HUMAN	Homo sapiens X antigen family, member 5 (XAGE5), mRNA.	83										endometrium(1)|large_intestine(1)|lung(5)|ovary(1)	8						CGGAGATAGTCCTGATGTCCA	0.423000														4			22		0	0	1	0	0
MST1P9	11223	broad.mit.edu	37	1	17086055	17086055	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:17086055G>A	uc010ock.2	-	6	842	c.842C>T	c.(841-843)tCc>tTc	p.S281F	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_5'UTR					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.											breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						GCTGATGTGGGATTTGCGCGT	0.652000														10			6		0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12122404	12122404	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:12122404C>T	uc003nac.3	+	3	2555	c.2376C>T	c.(2374-2376)ttC>ttT	p.F792F	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	792					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	p.S791C(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AAGATTCTTTCCAGTTTGATT	0.418000														77			12		0	0	1	0	0
F11	2160	broad.mit.edu	37	4	187196998	187196998	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:187196998C>T	uc003iza.1	+	5	876	c.543C>T	c.(541-543)ctC>ctT	p.L181L		NM_000128	NP_000119	P03951	FA11_HUMAN	Homo sapiens coagulation factor XI (F11), mRNA.	181	Apple 2.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	TAACGAAGCTCGATAAAGTGG	0.368000														13			7		0	0	1	0	0
CD2BP2	10421	broad.mit.edu	37	16	30364789	30364789	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:30364789G>A	uc002dxr.3	-	3	961	c.708C>T	c.(706-708)acC>acT	p.T236T	CD2BP2_uc002dxs.3_Silent_p.T236T	NM_001243646	NP_001230575	O95400	CD2B2_HUMAN	Homo sapiens CD2 (cytoplasmic tail) binding protein 2 (CD2BP2), transcript variant 2, mRNA.	236					assembly of spliceosomal tri-snRNP	U5 snRNP|cytoplasm|nucleoplasm	protein binding|ribonucleoprotein binding			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						GGGGTCCTAGGGTCTGACACC	0.622000														55			13		0	0	1	0	0
IL36A	27179	broad.mit.edu	37	2	113763579	113763579	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:113763579G>A	uc010yxr.2	+	1	39	c.39G>A	c.(37-39)ggG>ggA	p.G13G		NM_014440	NP_055255	Q9UHA7	IL36A_HUMAN	Homo sapiens interleukin 36, alpha (IL36A), mRNA.	13					immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding	p.Q12*(1)		large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						CTCAGCAGGGGAGCATTCAGG	0.468000														31			18		0	0	1	0	0
ADAM22	53616	broad.mit.edu	37	7	87780584	87780584	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:87780584G>A	uc003ujn.3	+	19	1845	c.1630G>A	c.(1630-1632)Gga>Aga	p.G544R	ADAM22_uc003ujk.2_Missense_Mutation_p.G544R|ADAM22_uc003ujl.2_Missense_Mutation_p.G544R|ADAM22_uc003ujm.3_Missense_Mutation_p.G544R|ADAM22_uc003ujo.3_Missense_Mutation_p.G544R|ADAM22_uc003ujp.1_Missense_Mutation_p.G596R	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA.	544	Cys-rich.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			AATTTGCTTTGGAGGAAGATG	0.368000														48			18		0	0	1	0	0
SYNDIG1L	646658	broad.mit.edu	37	14	74876383	74876383	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:74876383G>A	uc001xpx.2	-	1	313	c.65C>T	c.(64-66)cCc>cTc	p.P22L		NM_001105579	NP_001099049	A6NDD5	SYN1L_HUMAN	Homo sapiens synapse differentiation inducing 1-like (SYNDIG1L), mRNA.	22					response to biotic stimulus	Golgi apparatus|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						GTAGGGATAGGGGCCATGGAG	0.667000														18			27		0	0	1	0	0
LRRC37B	114659	broad.mit.edu	37	17	30348330	30348330	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:30348330C>T	uc002hgu.3	+	0	176	c.165C>T	c.(163-165)ctC>ctT	p.L55L	LRRC37B_uc010wbx.2_Intron|LRRC37B_uc010csu.3_Silent_p.L55L	NM_052888	NP_443120	Q96QE4	LR37B_HUMAN	Homo sapiens leucine rich repeat containing 37B (LRRC37B), mRNA.	55						integral to membrane		p.L55F(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				CCTCCCATCTCCCATGGGAAT	0.647000														86			21		0	0	1	0	0
FAM123C	205147	broad.mit.edu	37	2	131520820	131520820	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:131520820C>T	uc021voy.1	+	0	1175	c.1175C>T	c.(1174-1176)tCg>tTg	p.S392L	FAM123C_uc002trw.2_Missense_Mutation_p.S392L|FAM123C_uc010fmv.2_Missense_Mutation_p.S392L|FAM123C_uc010fms.1_Missense_Mutation_p.S392L|FAM123C_uc010fmt.1_Missense_Mutation_p.S392L|FAM123C_uc010fmu.1_Missense_Mutation_p.S392L	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	392										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		GATTCCTTCTCGCCAGGACTT	0.622000														10			22		0	0	1	0	0
VNN1	8876	broad.mit.edu	37	6	133013533	133013533	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:133013533G>A	uc003qdo.3	-	4	1037	c.1017C>T	c.(1015-1017)ttC>ttT	p.F339F		NM_004666	NP_004657	O95497	VNN1_HUMAN	Homo sapiens vanin 1 (VNN1), mRNA.	339					acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		TGAATTCATCGAAAAAGACAG	0.423000														13			19		0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207175506	207175506	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:207175506G>T	uc002vbp.2	+	4	6504	c.6254G>T	c.(6253-6255)aGg>aTg	p.R2085M		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	2085							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						CATTTTAATAGGAGCAACCAA	0.413000														15			20		0.00121646	0.00121997	1	1	0
ODZ2	57451	broad.mit.edu	37	5	167674779	167674779	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:167674779G>A	uc010jjd.3	+	26	6808	c.6808G>A	c.(6808-6810)Gaa>Aaa	p.E2270K	ODZ2_uc003lzr.4_Missense_Mutation_p.E2040K|ODZ2_uc003lzt.4_Missense_Mutation_p.E1643K|ODZ2_uc010jje.3_Missense_Mutation_p.E1534K	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		TGACATCTTCGAATACAATTC	0.542000														32			38		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34003125	34003125	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:34003125G>A	uc001bxm.1	-	60	9893	c.9716C>T	c.(9715-9717)tCc>tTc	p.S3239F	CSMD2_uc001bxn.1_Missense_Mutation_p.S3095F	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	3216	Sushi 26.					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)				GGGATGGCAGGAGAAGGAGAC	0.617000														78			24		0	0	1	0	0
PRDM14	63978	broad.mit.edu	37	8	70981430	70981430	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:70981430C>T	uc003xym.3	-	1	868	c.666G>A	c.(664-666)gcG>gcA	p.A222A		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	Homo sapiens PR domain containing 14 (PRDM14), mRNA.	222					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			GGCCTGAAATCGCATGGTGCA	0.612000														87			22		0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48201518	48201518	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:48201518C>T	uc002eff.1	-	27	4295	c.3945G>A	c.(3943-3945)ctG>ctA	p.L1315L	ABCC11_uc002efg.1_Silent_p.L1315L|ABCC11_uc002efh.1_Silent_p.L1277L|ABCC11_uc010cbg.1_Non-coding_Transcript	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA.	1315	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				TGCGCTGGATCAGGGTGTCTG	0.532000														29			23		0	0	1	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12919635	12919635	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:12919635C>T	uc001aum.1	+	2	462	c.375C>T	c.(373-375)ttC>ttT	p.F125F		NM_023014	NP_075390	O60811	PRAM2_HUMAN	Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.	125										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	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;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGTCCTGCTTCCCAGAGGCCA	0.537000														218			67		0	0	1	0	0
COL8A1	1295	broad.mit.edu	37	3	99513807	99513808	+	Missense_Mutation	DNP	CT	TA	TA			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:99513807_99513808CT>TA	uc003dti.1	+	2	1193_1194	c.1065_1066CT>TA	c.(1063-1068)ggcttc>ggTAtc	p.F356I	MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Missense_Mutation_p.F355I|COL8A1_uc003dth.1_Missense_Mutation_p.F355I	NM_020351	NP_065084	P27658	CO8A1_HUMAN	Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA.	355	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GGAAACCAGGCTTCCCAGGACC	0.624000														16			20		0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51865141	51865141	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:51865141C>T	uc001rys.1	+	13	1907	c.1729C>T	c.(1729-1731)Ctt>Ttt	p.L577F	SLC4A8_uc010sni.2_Missense_Mutation_p.L524F|SLC4A8_uc001rym.3_Missense_Mutation_p.L524F|SLC4A8_uc001ryn.3_Missense_Mutation_p.L524F|SLC4A8_uc001ryo.2_Missense_Mutation_p.L524F|SLC4A8_uc010snj.2_Missense_Mutation_p.L604F|SLC4A8_uc001ryq.4_Missense_Mutation_p.L577F|SLC4A8_uc001ryr.3_Missense_Mutation_p.L577F|SLC4A8_uc010snk.2_Missense_Mutation_p.L524F	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA.	577					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		GTGTATTGTCCTTGTGGCAAC	0.443000														105			27		0	0	1	0	0
COL28A1	340267	broad.mit.edu	37	7	7480456	7480456	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:7480456C>T	uc003src.1	-	20	1804	c.1687G>A	c.(1687-1689)Gga>Aga	p.G563R	COL28A1_uc011jxe.1_Missense_Mutation_p.G246R|COL28A1_uc003srd.3_Missense_Mutation_p.G118R	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	563	Collagen-like 5.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CCCCTCTGTCCTTGATTTCCT	0.398000														63			14		0	0	1	0	0
MDGA1	266727	broad.mit.edu	37	6	37618032	37618032	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:37618032C>T	uc003onu.1	-	7	2641	c.1462G>A	c.(1462-1464)Ggg>Agg	p.G488R		NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 1 (MDGA1), mRNA.	488	Ig-like 5.				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						AGGGGCAGCCCCGAGGGCAGC	0.701000														17			9		0	0	1	0	0
ZFP42	132625	broad.mit.edu	37	4	188924424	188924424	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:188924424G>A	uc003izh.1	+	3	871	c.463G>A	c.(463-465)Gga>Aga	p.G155R	ZFP42_uc003izi.1_Missense_Mutation_p.G155R|ZFP42_uc021xvm.1_Missense_Mutation_p.G155R	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.	155					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)		GCTTCCGCCTGGAGGAATACC	0.423000														62			37		0	0	1	0	0
ZNF585A	199704	broad.mit.edu	37	19	37647194	37647194	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:37647194G>A	uc002ofo.1	-	2	367	c.136C>T	c.(136-138)Cct>Tct	p.P46S	ZNF585A_uc002ofm.1_5'UTR|ZNF585A_uc002ofn.1_5'UTR	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	Homo sapiens zinc finger protein 585A (ZNF585A), transcript variant 2, mRNA.	46	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTCTGAGAAGGGTCCAGGTGC	0.522000														32			14		0	0	1	0	0
CELF5	60680	broad.mit.edu	37	19	3293438	3293438	+	Silent	SNP	C	T	T	rs142809979		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:3293438C>T	uc002lxm.3	+	11	1489	c.1452C>T	c.(1450-1452)ccC>ccT	p.P484P	CELF5_uc010dtj.2_3'UTR|CELF5_uc002lxl.2_3'UTR|CELF5_uc010xhg.2_Non-coding_Transcript|CELF5_uc002lxn.3_Non-coding_Transcript	NM_021938	NP_068757	Q8N6W0	CELF5_HUMAN	Homo sapiens CUGBP, Elav-like family member 5 (CELF5), transcript variant 1, mRNA.	484					mRNA processing	cytoplasm|nucleus	RNA binding|nucleotide binding			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						CGGGACACCCCTACTGACCGC	0.687000														23			18		0	0	1	0	0
CDK6	1021	broad.mit.edu	37	7	92244552	92244552	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:92244552G>A	uc011khw.2	-	7	1295	c.883C>T	c.(883-885)Ctg>Ttg	p.L295L	CDK6_uc010lez.3_Silent_p.L295L	NM_001259	NP_001250	Q00534	CDK6_HUMAN	Homo sapiens cyclin-dependent kinase 6 (CDK6), transcript variant 1, mRNA.	295	Protein kinase.				G1 phase of mitotic cell cycle|cell dedifferentiation|cell division|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	11	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			GGGTGAGACAGGGCACTGTAG	0.433000			T	MLLT10	ALL									54			13		0	0	1	0	0
TMED2	10959	broad.mit.edu	37	12	124071410	124071410	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:124071410C>T	uc001ufg.3	+	1	405	c.297C>T	c.(295-297)tcC>tcT	p.S99S		NM_006815	NP_006806	Q15363	TMED2_HUMAN	Homo sapiens transmembrane emp24 domain trafficking protein 2 (TMED2), mRNA.	99	GOLD.				protein transport|vesicle-mediated transport	COPI coated vesicle membrane|ER-Golgi intermediate compartment|integral to membrane|microsome|zymogen granule membrane	protein binding			kidney(1)|large_intestine(4)|lung(1)|prostate(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000138)|Epithelial(86;0.000613)|all cancers(50;0.00745)		ACCGGATGTCCACCATGACTC	0.388000														36			15		0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105153206	105153206	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:105153206C>T	uc004emd.3	+	12	1876	c.1573C>T	c.(1573-1575)Cag>Tag	p.Q525*	NRK_uc010npc.1_Nonsense_Mutation_p.Q193*	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	525	Gln-rich.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GGGTCAAGATCAGGTACCCGA	0.547000										HNSCC(51;0.14)				6			11		0	0	1	0	0
SLC39A5	283375	broad.mit.edu	37	12	56625136	56625136	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:56625136C>T	uc010sqj.2	+	3	335	c.78C>T	c.(76-78)gtC>gtT	p.V26V	SLC39A5_uc010sqi.2_Intron|SLC39A5_uc010sqk.2_Silent_p.V26V	NM_173596	NP_775867	Q6ZMH5	S39A5_HUMAN	Homo sapiens solute carrier family 39 (metal ion transporter), member 5 (SLC39A5), transcript variant 1, mRNA.	26					zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity	p.P26S(1)		NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGGGCTCAGTCCCCAACCTGG	0.632000														104			32		0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96051656	96051656	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:96051656C>T	uc004ati.1	+	19	4731	c.4731C>T	c.(4729-4731)ccC>ccT	p.P1577P	WNK2_uc011lud.1_Silent_p.P1540P|WNK2_uc004atj.3_Silent_p.P1540P|WNK2_uc004atk.3_Silent_p.P1177P|WNK2_uc004atl.1_Silent_p.P135P	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	1577					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						GGCCGCCCCCCAGGGTGGGCT	0.692000														19			8		0	0	1	0	0
PPT1	5538	broad.mit.edu	37	1	40544245	40544245	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:40544245G>A	uc001cfb.2	-	6	945	c.713C>T	c.(712-714)cCt>cTt	p.P238L	PPT1_uc010ojf.1_Missense_Mutation_p.P188L|PPT1_uc010ojg.1_Missense_Mutation_p.P135L|PPT1_uc009vwa.2_Non-coding_Transcript	NM_000310	NP_000301	P50897	PPT1_HUMAN	Homo sapiens palmitoyl-protein thioesterase 1 (PPT1), transcript variant 1, mRNA.	238					DNA fragmentation involved in apoptotic nuclear change|brain development|cofactor metabolic process|cofactor transport|lysosomal lumen acidification|membrane raft organization|negative regulation of cell growth|negative regulation of neuron apoptosis|neuron development|pinocytosis|positive regulation of pinocytosis|positive regulation of receptor-mediated endocytosis|protein depalmitoylation|protein transport|receptor-mediated endocytosis|regulation of synapse structure and activity|sphingolipid catabolic process|visual perception	Golgi apparatus|axon|cytosol|lysosome|membrane fraction|membrane raft|nucleus|synaptic vesicle	palmitoyl-(protein) hydrolase activity|palmitoyl-CoA hydrolase activity			endometrium(5)|large_intestine(1)|lung(3)|ovary(1)|stomach(1)	11	Lung NSC(20;3.43e-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;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CGAATCTACAGGGTCCACAAT	0.478000														50			66		0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2949728	2949728	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:2949728G>A	uc003smv.3	-	23	3550	c.3216C>T	c.(3214-3216)atC>atT	p.I1072I		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	1072	Guanylate kinase-like.				T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TGAAGAGCACGATGGGGTAGA	0.587000			Mis		DLBCL									53			52		0	0	1	0	0
SYN3	8224	broad.mit.edu	37	22	33402639	33402639	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:33402639G>A	uc003amx.3	-	0	171	c.9C>T	c.(7-9)ttC>ttT	p.F3F	SYN3_uc003amy.3_Silent_p.F3F|SYN3_uc003amz.3_Silent_p.F3F	NM_003490	NP_003481	O14994	SYN3_HUMAN	Homo sapiens synapsin III (SYN3), transcript variant IIIa, mRNA.	3	A.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GTCGCCGGAGGAAATTCATGG	0.572000											OREG0003521	type=REGULATORY REGION|Gene=SYN3|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		73			6		0	0	1	0	0
UBE3A	7337	broad.mit.edu	37	15	25620815	25620815	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:25620815G>A	uc001zaq.3	-	5	927	c.167C>T	c.(166-168)tCc>tTc	p.S56F	UBE3A_uc001zar.3_Missense_Mutation_p.S33F|UBE3A_uc001zas.3_Missense_Mutation_p.S53F|UBE3A_uc001zat.3_Missense_Mutation_p.S33F	NM_000462	NP_570853	Q05086	UBE3A_HUMAN	Homo sapiens ubiquitin protein ligase E3A (UBE3A), transcript variant 2, mRNA.	56					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		AGTTGGACAGGAAGCACAAAA	0.438000														70			13		0	0	1	0	0
SPEM1	374768	broad.mit.edu	37	17	7324716	7324716	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:7324716C>T	uc002ggv.3	+	2	747	c.722C>T	c.(721-723)cCc>cTc	p.P241L	SPEM1_uc010vtw.1_Intron	NM_199339	NP_955371	Q8N4L4	SPEM1_HUMAN	Homo sapiens spermatid maturation 1 (SPEM1), mRNA.	241					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				GTCCCAGCTCCCACCCTGGGC	0.657000														24			9		0	0	1	0	0
CXCR7	57007	broad.mit.edu	37	2	237489510	237489510	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:237489510C>T	uc021vys.1	+	0	402	c.402C>T	c.(400-402)ttC>ttT	p.F134F	CXCR7_uc010fyq.3_Silent_p.F134F|CXCR7_uc002vwd.3_Silent_p.F134F	NM_020311	NP_064707	P25106	CXCR7_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 7 (CXCR7), mRNA.	134					interspecies interaction between organisms	integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(2)|skin(1)	4		Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223)		Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118)		GCATTTTCTTCCTCACGTGCA	0.567000														61			28		0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152057925	152057925	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:152057925C>T	uc001ezo.1	-	2	2298	c.2233G>A	c.(2233-2235)Gag>Aag	p.E745K		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	745							calcium ion binding	p.S744*(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TCTTCCTCCTCTGATGTTACA	0.463000														81			25		0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103348803	103348803	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:103348803G>A	uc001dum.3	-	63	5277	c.4959C>T	c.(4957-4959)ttC>ttT	p.F1653F	COL11A1_uc001duk.3_Silent_p.F837F|COL11A1_uc001dul.3_Silent_p.F1641F|COL11A1_uc001dun.3_Silent_p.F1602F|COL11A1_uc009weh.3_Silent_p.F1525F	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1641	Fibrillar collagen NC1.				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)		CACCAGATGTGAAATTACAGT	0.368000														46			16		0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168833622	168833622	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:168833622C>T	uc011bpj.1	-	7	2441	c.2038G>A	c.(2038-2040)Ggg>Agg	p.G680R	MECOM_uc010hwk.1_Missense_Mutation_p.G515R|MECOM_uc003ffj.3_Missense_Mutation_p.G557R|MECOM_uc003ffi.3_Missense_Mutation_p.G492R|MECOM_uc011bpi.1_Missense_Mutation_p.G493R|MECOM_uc003ffn.3_Missense_Mutation_p.G492R|MECOM_uc003ffk.2_Missense_Mutation_p.G492R|MECOM_uc003ffl.2_Missense_Mutation_p.G652R|MECOM_uc011bpk.1_Missense_Mutation_p.G492R|MECOM_uc010hwn.2_Missense_Mutation_p.G680R	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	p.T679T(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						TCTTGCAGCCCCACCAGTCCT	0.428000														68			18		0	0	1	0	0
OR10P1	121130	broad.mit.edu	37	12	56031087	56031087	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:56031087A>C	uc010spq.2	+	0	412	c.412A>C	c.(412-414)Agc>Cgc	p.S138R		NM_206899	NP_996782	Q8NGE3	O10P1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily P, member 1 (OR10P1), mRNA.	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						CACCCTCTTGAGCCCACGGGC	0.597000														60			14		0	0	1	0	0
MANBA	4126	broad.mit.edu	37	4	103590153	103590153	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:103590153G>A	uc003hwg.3	-	9	1384	c.1284C>T	c.(1282-1284)ttC>ttT	p.F428F	MANBA_uc011ces.2_Silent_p.F371F	NM_005908	NP_005899	O00462	MANBA_HUMAN	Homo sapiens mannosidase, beta A, lysosomal (MANBA), mRNA.	428					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		CTGAATCCAGGAAGCCCTGAT	0.363000														7			4		0	0	1	0	0
PAMR1	25891	broad.mit.edu	37	11	35456345	35456345	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:35456345C>T	uc001mwf.3	-	10	1435	c.1392G>A	c.(1390-1392)ggG>ggA	p.G464G	PAMR1_uc001mwg.3_Silent_p.G447G|PAMR1_uc010rew.2_Silent_p.G336G|PAMR1_uc010rex.2_Silent_p.G407G	NM_015430	NP_056245	Q6UXH9	PAMR1_HUMAN	Homo sapiens peptidase domain containing associated with muscle regeneration 1 (PAMR1), transcript variant 1, mRNA.	447	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.C463C(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						TCTCAATTTTCCCGCAGACTA	0.512000														34			15		0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163393492	163393492	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:163393492C>T	uc002uch.2	-	2	635	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K	KCNH7_uc002uci.3_Missense_Mutation_p.E136K	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	136	PAC.				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	GCAGCGTTTTCATTATCCGTC	0.383000														60			28		0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52520438	52520438	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr13:52520438G>A	uc001vfw.2	-	12	3199	c.3042C>T	c.(3040-3042)ccC>ccT	p.P1014P	ATP7B_uc001vfy.2_Silent_p.P903P|ATP7B_uc010adv.2_Silent_p.P584P|ATP7B_uc001vfx.2_Silent_p.P807P|ATP7B_uc010tgt.1_Intron|ATP7B_uc010tgu.1_Silent_p.P966P|ATP7B_uc010tgv.1_Silent_p.P936P|ATP7B_uc001vfv.2_Silent_p.P286P|ATP7B_uc010tgs.1_Silent_p.P286P	NM_000053	NP_000044	P35670	ATP7B_HUMAN	Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA.	1014					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		CCATCTCCAGGGGCTTGCCTC	0.592000									Wilson disease					10			4		0	0	1	0	0
ACVRL1	94	broad.mit.edu	37	12	52312843	52312843	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:52312843G>A	uc001rzj.3	+	8	1604	c.1321G>A	c.(1321-1323)Gtg>Atg	p.V441M	ACVRL1_uc001rzk.3_Missense_Mutation_p.V441M|ACVRL1_uc010snm.2_Missense_Mutation_p.V267M	NM_000020	NP_001070869	P37023	ACVL1_HUMAN	Homo sapiens activin A receptor type II-like 1 (ACVRL1), transcript variant 1, mRNA.	441	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)	CATGAAGAAGGTGGTGTGTGT	0.577000														61			18		0	0	1	0	0
SLC4A1	6521	broad.mit.edu	37	17	42338027	42338027	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:42338027C>T	uc002igf.4	-	4	474	c.325G>A	c.(325-327)Gag>Aag	p.E109K	SLC4A1_uc021tyc.1_Missense_Mutation_p.E109K	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.	109					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)		CTACGCAGCTCTAGGAGGCTC	0.652000														57			16		0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	31165421	31165421	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:31165421A>T	uc004dda.1	-	74	11012	c.10768T>A	c.(10768-10770)Tta>Ata	p.L3590I	DMD_uc004dcq.1_Missense_Mutation_p.L861I|DMD_uc004dcr.1_Missense_Mutation_p.L1020I|DMD_uc004dcs.1_Missense_Mutation_p.L1020I|DMD_uc004dct.1_Missense_Mutation_p.L1130I|DMD_uc004dcu.1_Missense_Mutation_p.L1130I|DMD_uc004dcv.1_Missense_Mutation_p.L1117I|DMD_uc004dcw.2_Missense_Mutation_p.L2246I|DMD_uc004dcx.2_Missense_Mutation_p.L2249I|DMD_uc004dcz.2_Missense_Mutation_p.L3467I|DMD_uc004dcy.1_Missense_Mutation_p.L3586I|DMD_uc004ddb.1_Missense_Mutation_p.L3582I|DMD_uc004dcp.1_Missense_Mutation_p.L509I|DMD_uc011mkb.1_Missense_Mutation_p.L412I|DMD_uc004dcm.1_Missense_Mutation_p.L522I|DMD_uc004dcn.1_Missense_Mutation_p.L509I|DMD_uc004dco.1_Missense_Mutation_p.L522I	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	3590					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AGCCTGTGTAACTGTGACTCC	0.473000														16			31		0	0	1	0	0
KBTBD12	166348	broad.mit.edu	37	3	127682170	127682170	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:127682170C>T	uc010hsr.3	+	3	1634	c.1631C>T	c.(1630-1632)tCc>tTc	p.S544F	KBTBD12_uc003ejy.4_Missense_Mutation_p.S151F|KBTBD12_uc010hsq.3_Non-coding_Transcript|KBTBD12_uc003eka.4_Missense_Mutation_p.S119F|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.	544										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						CGCACCAATTCCACCAATGCA	0.537000														16			4		0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189910627	189910627	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:189910627G>A	uc002uqk.3	-	45	3483	c.3208C>T	c.(3208-3210)Cgt>Tgt	p.R1070C	COL5A2_uc010frx.3_Missense_Mutation_p.R646C	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	1070					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GGGTCTCCACGATCACCCTAA	0.443000														35			11		0	0	1	0	0
RHCG	51458	broad.mit.edu	37	15	90020801	90020801	+	Silent	SNP	G	A	A	rs146417060	byFrequency	TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:90020801G>A	uc002bnz.2	-	6	1083	c.1059C>T	c.(1057-1059)atC>atT	p.I353I	RHCG_uc002boa.2_Non-coding_Transcript	NM_016321	NP_057405	Q9UBD6	RHCG_HUMAN	Homo sapiens Rh family, C glycoprotein (RHCG), mRNA.	353					amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	p.I353I(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					CAGCACCCACGATGCCGCCTA	0.577000														100			12		0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118222401	118222401	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:118222401G>A	uc004era.4	-	10	2792	c.2792C>T	c.(2791-2793)tCa>tTa	p.S931L		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	931										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						AGTGCCCACTGAACTGGTGGG	0.498000														3			21		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168222545	168222545	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:168222545C>T	uc010jjg.3	-	9	1394	c.974G>A	c.(973-975)gGa>gAa	p.G325E	SLIT3_uc003mab.3_Missense_Mutation_p.G325E|SLIT3_uc010jji.2_Missense_Mutation_p.G325E|SLIT3_uc003mac.1_Missense_Mutation_p.G122E	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	325					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGTGAAGGCTCCTGCAGGGAT	0.478000														69			16		0	0	1	0	0
GPR75-ASB3	100302652	broad.mit.edu	37	2	53941622	53941622	+	Silent	SNP	T	C	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:53941622T>C	uc002rxi.4	-	6	1098	c.993A>G	c.(991-993)gaA>gaG	p.E331E	GPR75-ASB3_uc021vhl.1_Silent_p.E220E|GPR75-ASB3_uc002rxg.2_Silent_p.E293E|GPR75-ASB3_uc002rxh.2_Silent_p.E220E|GPR75-ASB3_uc010yoo.2_Silent_p.E210E	NM_001164165	NP_665862	Q2TAI4	Q2TAI4_HUMAN	Homo sapiens GPR75-ASB3 readthrough (GPR75-ASB3), mRNA.	328					intracellular signal transduction												CTAGGCAATCTTCATGTCCCC	0.473000														29			72		0	0	1	0	0
TAB2	23118	broad.mit.edu	37	6	149691194	149691194	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:149691194C>T	uc003qmj.3	+	1	239	c.61C>T	c.(61-63)Cct>Tct	p.P21S	TAB2_uc011eec.2_Intron|TAB2_uc010kia.1_Missense_Mutation_p.P21S|TAB2_uc010kib.2_Missense_Mutation_p.P21S|TAB2_uc003qmk.4_Non-coding_Transcript	NM_015093	NP_055908	Q9NYJ8	TAB2_HUMAN	Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 2 (TAB2), mRNA.	21	CUE.				I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|heart development|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding	p.P21R(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						ACAAAAATTCCCTGAAGTACC	0.378000														8			9		0	0	1	0	0
ATP6AP1L	92270	broad.mit.edu	37	5	81606007	81606007	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:81606007C>T	uc003khv.3	+	7	1437	c.112C>T	c.(112-114)Ccc>Tcc	p.P38S	ATP6AP1L_uc003khw.3_Missense_Mutation_p.P38S	NM_001017971	NP_001017971	Q52LC2	VAS1L_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal accessory protein 1-like (ATP6AP1L), mRNA.	38					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	12						TGCTGGAAACCCCAGAAGTCT	0.403000														41			11		0	0	1	0	0
HPS6	79803	broad.mit.edu	37	10	103827386	103827386	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:103827386C>T	uc001kuj.3	+	0	2263	c.2155C>T	c.(2155-2157)Cca>Tca	p.P719S		NM_024747	NP_079023	Q86YV9	HPS6_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 6 (HPS6), mRNA.	719						cytosol|early endosome membrane|endoplasmic reticulum|microsome				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		GGTGGGGCCCCCAACCCCATT	0.642000									Hermansky-Pudlak syndrome					39			29		0	0	1	0	0
UGT2A3	79799	broad.mit.edu	37	4	69811088	69811088	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:69811088G>A	uc003hef.2	-	1	831	c.800C>T	c.(799-801)cCa>cTa	p.P267L	UGT2A3_uc010ihp.1_Non-coding_Transcript	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	267						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGGTTGGTATGGTTGAGGAAA	0.368000														30			7		0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	39996589	39996589	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:39996589G>A	uc003ayc.3	+	2	413	c.413G>A	c.(412-414)gGg>gAg	p.G138E	CACNA1I_uc003ayd.3_Missense_Mutation_p.G138E|CACNA1I_uc003aye.3_Missense_Mutation_p.G53E|CACNA1I_uc003ayf.3_Missense_Mutation_p.G53E	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	138					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	p.G138R(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GTGGCCCTGGGGATTTTTGGC	0.562000														38			11		0	0	1	0	0
LOC100128164	100128164	broad.mit.edu	37	3	169664110	169664110	+	RNA	SNP	A	G	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:169664110A>G	uc011bpp.2	-	1		c.3693T>C								Homo sapiens four and a half LIM domains 1 pseudogene (LOC100128164), transcript variant 1, non-coding RNA.																		CCTTCCCTTTAGAGAAGAAGC	0.488000														43			7		0	0	1	0	0
LRIG2	9860	broad.mit.edu	37	1	113635860	113635860	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:113635860C>T	uc001edf.1	+	2	536	c.338C>T	c.(337-339)cCg>cTg	p.P113L	LRIG2_uc009wgn.1_Missense_Mutation_p.P10L	NM_014813	NP_055628	O94898	LRIG2_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 2 (LRIG2), mRNA.	113						cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		ACAGAAATCCCGTATTTTGGA	0.284000														22			9		0	0	1	0	0
FCAR	2204	broad.mit.edu	37	19	55399626	55399626	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:55399626C>T	uc002qhr.1	+	3	811	c.614C>T	c.(613-615)tCc>tTc	p.S205F	FCAR_uc021vbp.1_Non-coding_Transcript|FCAR_uc002qhq.3_Missense_Mutation_p.S205F|FCAR_uc002qhs.1_Intron|FCAR_uc002qht.1_Intron|FCAR_uc010esi.1_Intron|FCAR_uc002qhu.1_Intron|FCAR_uc002qhv.1_Intron|FCAR_uc002qhw.1_Missense_Mutation_p.S193F|FCAR_uc002qhx.1_Intron|FCAR_uc002qhy.1_Intron|FCAR_uc002qhz.1_Intron|FCAR_uc002qia.1_Missense_Mutation_p.S96F	NM_002000	NP_001991	P24071	FCAR_HUMAN	Homo sapiens Fc fragment of IgA, receptor for (FCAR), transcript variant 1, mRNA.	205					immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		TACCTGTGGTCCTTCCCCAGT	0.602000														11			4		0	0	1	0	0
KIF11	3832	broad.mit.edu	37	10	94397260	94397261	+	Silent	DNP	CC	TT	TT			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:94397260_94397261CC>TT	uc001kic.3	+	15	2426_2427	c.2118_2119CC>TT	c.(2116-2121)aaccta>aaTTta	p.706_707NL>NL		NM_004523	NP_004514	P52732	KIF11_HUMAN	Homo sapiens kinesin family member 11 (KIF11), mRNA.	706					blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AATGTGGAAACCTAACTGAAGA	0.391000														33			17		0	0	1	0	0
ASIC3	9311	broad.mit.edu	37	7	150749305	150749305	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:150749305G>A	uc003wio.2	+	8	1807	c.1439G>A	c.(1438-1440)aGg>aAg	p.R480K	ASIC3_uc003win.2_Missense_Mutation_p.R480K|ASIC3_uc003wip.2_Missense_Mutation_p.R480K|ASIC3_uc003wiq.2_Non-coding_Transcript	NM_020321	NP_064717	Q9UHC3	ACCN3_HUMAN	Homo sapiens amiloride-sensitive cation channel 3 (ACCN3), transcript variant 2, mRNA.	480					sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity										CACTCCCAAAGGCACTCCAGC	0.612000														167			44		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140742014	140742014	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:140742014C>T	uc003ljs.2	+	0	2312	c.2312C>T	c.(2311-2313)aCc>aTc	p.T771I	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003lju.2_5'Flank|PCDHGC5_uc011dar.2_Missense_Mutation_p.T771I|PCDHGC5_uc011das.2_5'Flank	NM_018923	NP_061746	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 2 (PCDHGB2), transcript variant 1, mRNA.	794					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)			CTGAACATAACCCCGGAATTG	0.488000														88			29		0	0	1	0	0
BPIFB1	92747	broad.mit.edu	37	20	31897539	31897539	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:31897539C>T	uc002wyw.1	+	15	1582	c.1421C>T	c.(1420-1422)tCc>tTc	p.S474F		NM_033197	NP_149974	Q8TDL5	LPLC1_HUMAN	Homo sapiens BPI fold containing family B, member 1 (BPIFB1), mRNA.	474						extracellular space	lipid binding										ACTCCAGCCTCCTTGTGGAAA	0.512000														40			24		0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	70597897	70597897	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:70597897G>A	uc003tvy.3	+	0	109	c.109G>A	c.(109-111)Gac>Aac	p.D37N		NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	37						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)				GCGCAGCGGAGACGCCTTCCA	0.657000														49			9		0	0	1	0	0
SPINLW1-WFDC6	100526773	broad.mit.edu	37	20	44174380	44174380	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:44174380C>T	uc010zxc.2	-	1	190	c.121G>A	c.(121-123)Gaa>Aaa	p.E41K	SPINLW1-WFDC6_uc002xou.3_Missense_Mutation_p.E41K|SPINLW1-WFDC6_uc002xov.2_Missense_Mutation_p.E41K	NM_001198986	NP_001185915	A6PVD6	A6PVD6_HUMAN	Homo sapiens SPINLW1-WFDC6 readthrough (SPINLW1-WFDC6), mRNA.	41						extracellular region	serine-type endopeptidase inhibitor activity										TCTTGGAATTCACATTCTTCT	0.448000														109			29		0	0	1	0	0
PRSS16	10279	broad.mit.edu	37	6	27216925	27216925	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:27216925C>T	uc003nja.3	+	3	399	c.384C>T	c.(382-384)agC>agT	p.S128S	PRSS16_uc011dkt.2_Intron|PRSS16_uc003njb.3_Intron|PRSS16_uc003njc.1_Non-coding_Transcript|PRSS16_uc010jqq.1_Silent_p.S18S|PRSS16_uc010jqr.1_Silent_p.S18S|PRSS16_uc003njd.3_5'Flank	NM_005865	NP_005856	Q9NQE7	TSSP_HUMAN	Homo sapiens protease, serine, 16 (thymus) (PRSS16), mRNA.	128					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						TGGTGATAAGCCTGGAACACA	0.592000														72			46		0	0	1	0	0
SNAI1	6615	broad.mit.edu	37	20	48600620	48600620	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:48600620C>T	uc002xuz.3	+	1	426	c.342C>T	c.(340-342)tcC>tcT	p.S114S		NM_005985	NP_005976	O95863	SNAI1_HUMAN	Homo sapiens snail homolog 1 (Drosophila) (SNAI1), mRNA.	114					epithelial to mesenchymal transition|mesoderm formation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)	17			BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			CGTCCTTCTCCTCTACTTCAG	0.632000														91			24		0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30318664	30318664	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:30318664C>T	uc009xle.2	-	2	550	c.413G>A	c.(412-414)gGa>gAa	p.G138E	KIAA1462_uc001iux.3_Missense_Mutation_p.G138E|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_5'UTR	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	138										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						TTGGGCCATTCCTCTGGCCTC	0.587000														115			39		0	0	1	0	0
HEATR3	55027	broad.mit.edu	37	16	50118112	50118112	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:50118112C>T	uc002efw.3	+	8	1362	c.1200C>T	c.(1198-1200)tcC>tcT	p.S400S	HEATR3_uc021thv.1_3'UTR|HEATR3_uc002efx.3_Silent_p.S314S|HEATR3_uc021thw.1_5'Flank	NM_182922	NP_891552	Q7Z4Q2	HEAT3_HUMAN	Homo sapiens HEAT repeat containing 3 (HEATR3), mRNA.	400							binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						TGGAGAATTCCTTCAGTGAGT	0.502000														24			10		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179429135	179429135	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:179429135C>T	uc021vsy.1	-	274	74245	c.74020G>A	c.(74020-74022)Gaa>Aaa	p.E24674K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E18369K|TTN_uc021vta.1_Missense_Mutation_p.E18302K|TTN_uc021vtb.1_Missense_Mutation_p.E18177K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	25601	Fibronectin type-III 79.						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)			ACTCTAAATTCATATCTTTGG	0.393000														16			6		0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140810583	140810583	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:140810583G>A	uc021xsg.1	-	1	2759	c.2007C>T	c.(2005-2007)cgC>cgT	p.R669R	MAML3_uc011chd.1_Intron	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	Homo sapiens mastermind-like 3 (Drosophila) (MAML3), mRNA.	665	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					TGAGAAGCAGGCGTTTCTGGT	0.572000														35			13		0	0	1	0	0
COL8A1	1295	broad.mit.edu	37	3	99513430	99513430	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:99513430G>A	uc003dti.1	+	2	816	c.688G>A	c.(688-690)Gga>Aga	p.G230R	MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Missense_Mutation_p.G229R|COL8A1_uc003dth.1_Missense_Mutation_p.G229R	NM_020351	NP_065084	P27658	CO8A1_HUMAN	Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA.	229	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						AGGACCCAAAGGACTACCAGG	0.622000														84			22		0	0	1	0	0
NRXN2	9379	broad.mit.edu	37	11	64390376	64390376	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:64390376C>T	uc021qkw.1	-	20	4484	c.4022G>A	c.(4021-4023)gGg>gAg	p.G1341E	NRXN2_uc021qkx.1_Missense_Mutation_p.G1271E|NRXN2_uc001oas.3_Missense_Mutation_p.G1271E|NRXN2_uc001oao.3_5'UTR|NRXN2_uc001oap.3_Missense_Mutation_p.G295E|NRXN2_uc001oaq.3_Missense_Mutation_p.G1008E	NM_015080	NP_055895	Q9P2S2	NRX2A_HUMAN	Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA.	1341	Laminin G-like 6.				cell adhesion	integral to membrane	metal ion binding	p.G1341E(2)|p.G295E(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CGGCCCCTCCCCCACCAGGCG	0.672000														10			3		0	0	1	0	0
MTMR9	66036	broad.mit.edu	37	8	11172495	11172495	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:11172495C>T	uc003wtm.3	+	6	1433	c.1035C>T	c.(1033-1035)tcC>tcT	p.S345S	MTMR9_uc010lrx.3_Silent_p.S238S|MTMR9_uc011kxa.2_Silent_p.S260S	NM_015458	NP_056273	Q96QG7	MTMR9_HUMAN	Homo sapiens myotubularin related protein 9 (MTMR9), mRNA.	345	Myotubularin phosphatase.					cytoplasm	phosphatase activity|protein binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		AGGTGACCTCCTTGGCCCAGA	0.468000														50			22		0	0	1	0	0
SEC1	653677	broad.mit.edu	37	19	49183487	49183487	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:49183487G>A	uc010xzv.2	+	4	634	c.507G>A	c.(505-507)ggG>ggA	p.G169G	SEC1_uc002pka.3_Silent_p.G129G|SEC1_uc010xzw.2_Silent_p.G86G|SEC1_uc010ema.3_Silent_p.G75G					Homo sapiens secretory blood group 1 (SEC1), non-coding RNA.																		GCCGCCTGGGGAACCAGATGG	0.677000														9			3		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139149502	139149502	+	Splice_Site	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:139149502C>T	uc003yuy.3	-	19	4073	c.3902_splice	c.e19-1	p.G1301_splice	FAM135B_uc003yux.3_Splice_Site_p.G1202_splice|FAM135B_uc003yuz.3_Splice_Site	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	1301										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)			AATACTGCAGCCCTGTAAAAA	0.423000										HNSCC(54;0.14)				31			8		0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151155591	151155591	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:151155591C>T	uc011bod.2	-	5	6758	c.6758G>A	c.(6757-6759)aGa>aAa	p.R2253K	IGSF10_uc011bob.2_Missense_Mutation_p.R280K|IGSF10_uc011boc.2_Missense_Mutation_p.R232K	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	2253	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)			TTTGGAATGTCTCACAGCTGT	0.423000														62			36		0	0	1	0	0
CBS	875	broad.mit.edu	37	21	44492152	44492152	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr21:44492152C>T	uc002zcu.2	-	2	397	c.152G>A	c.(151-153)aGg>aAg	p.R51K	CBS_uc002zct.2_Missense_Mutation_p.R51K|CBS_uc002zcw.3_Missense_Mutation_p.R51K|CBS_uc002zcv.2_Missense_Mutation_p.R51K	NM_000071	NP_001171480	P35520	CBS_HUMAN	Homo sapiens cystathionine-beta-synthase (CBS), transcript variant 1, mRNA.	51					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)	CCAGGTGCACCTGCTCGGAGC	0.642000														63			60		0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79565452	79565452	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:79565452A>G	uc001jzk.3	-	26	5205	c.5135T>C	c.(5134-5136)tTt>tCt	p.F1712S	DLG5_uc001jzi.3_Missense_Mutation_p.F467S|DLG5_uc001jzj.3_Missense_Mutation_p.F1127S|DLG5_uc009xru.1_Non-coding_Transcript	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	1712					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GTCACTGGAAAAGGCATCCAA	0.567000														33			30		0	0	1	0	0
STMN4	81551	broad.mit.edu	37	8	27097601	27097601	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:27097601C>T	uc011lak.2	-	5	592	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K	STMN4_uc003xfj.3_Missense_Mutation_p.E160K|STMN4_uc011lai.2_Missense_Mutation_p.E160K|STMN4_uc011laj.2_Missense_Mutation_p.E124K|STMN4_uc003xfk.3_Missense_Mutation_p.E133K|STMN4_uc010luo.3_Missense_Mutation_p.E133K	NM_030795	NP_110422	Q9H169	STMN4_HUMAN	Homo sapiens stathmin-like 4 (STMN4), mRNA.	133					intracellular signal transduction					endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	11		Ovarian(32;0.00167)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)		TTGTTGTTTTCCTCAATGGCC	0.507000														36			37		0	0	1	0	0
OR51T1	401665	broad.mit.edu	37	11	4904108	4904108	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:4904108G>A	uc010qyp.2	+	0	1060	c.1060G>A	c.(1060-1062)Gat>Aat	p.D354N		NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily T, member 1 (OR51T1), mRNA.	327					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W353L(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGGAAGATGGGATTGAAGGTA	0.468000														17			7		0	0	1	0	0
ARPC1A	10552	broad.mit.edu	37	7	98946518	98946518	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:98946518C>T	uc003upx.2	+	4	597	c.436C>T	c.(436-438)Ctc>Ttc	p.L146F	ARPC1A_uc003upy.2_Missense_Mutation_p.L132F|ARPC1A_uc011kit.2_Non-coding_Transcript	NM_006409	NP_006400	Q92747	ARC1A_HUMAN	Homo sapiens actin related protein 2/3 complex, subunit 1A, 41kDa (ARPC1A), transcript variant 1, mRNA.	146					actin cytoskeleton organization|regulation of actin filament polymerization	actin cytoskeleton|cytoplasm	actin binding			endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1)	19	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		STAD - Stomach adenocarcinoma(171;0.215)			CTCCACAGTCCTCAGCTTGGA	0.488000														68			19		0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29039917	29039917	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr18:29039917C>T	uc002kws.3	+	5	736	c.627C>T	c.(625-627)ttC>ttT	p.F209F		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	209	Cadherin 2.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CACCCATGTTCCTCCTAAGCA	0.438000														6			16		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10399699	10399699	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:10399699C>T	uc002gmo.3	-	33	4918	c.4824G>A	c.(4822-4824)gaG>gaA	p.E1608E	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1608						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						TGCTCCTGATCTCAGCATCCA	0.463000														41			67		0	0	1	0	0
CRYBB2	1415	broad.mit.edu	37	22	25623916	25623916	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:25623916G>A	uc003abp.1	+	3	318	c.270G>A	c.(268-270)agG>agA	p.R90R		NM_000496	NP_000487	P43320	CRBB2_HUMAN	Homo sapiens crystallin, beta B2 (CRYBB2), mRNA.	90	Beta/gamma crystallin 'Greek key' 2.				response to stimulus|visual perception		structural constituent of eye lens			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						GCAGCCGAAGGACGGACTCCC	0.597000														29			27		0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22902919	22902919	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:22902919C>T	uc001bfx.1	+	2	494	c.369C>T	c.(367-369)aaC>aaT	p.N123N	EPHA8_uc001bfw.3_Silent_p.N123N	NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	123			N -> K (in a breast infiltrating ductal carcinoma sample; somatic mutation).			integral to plasma membrane	ATP binding|ephrin receptor activity	p.N123K(4)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGACCTTCAACCTCTACTACC	0.607000														48			13		0	0	1	0	0
EXOSC10	5394	broad.mit.edu	37	1	11137451	11137451	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:11137451G>A	uc001asa.3	-	15	1900	c.1850C>T	c.(1849-1851)cCg>cTg	p.P617L	EXOSC10_uc001asb.3_Missense_Mutation_p.P617L	NM_001001998	NP_001001998	Q01780	EXOSX_HUMAN	Homo sapiens exosome component 10 (EXOSC10), transcript variant 1, mRNA.	617					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|RNA binding|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-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)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		ATAGCCATCCGGAGGGGCATG	0.522000														107			13		0	0	1	0	0
KRTAP10-3	386682	broad.mit.edu	37	21	45978389	45978389	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr21:45978389G>A	uc002zfj.1	-	0	255	c.210C>T	c.(208-210)ggC>ggT	p.G70G	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198696	NP_941969	P60369	KR103_HUMAN	Homo sapiens keratin associated protein 10-3 (KRTAP10-3), mRNA.	70	18 X 5 AA repeats of C-C-X(3).					keratin filament				kidney(1)|lung(4)|prostate(1)|skin(1)	7						AGCTGGTGCAGCCTGACTGGC	0.706000														53			55		0	0	1	0	0
CYP1A2	1544	broad.mit.edu	37	15	75042167	75042167	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:75042167G>T	uc002ayr.1	+	1	152	c.88G>T	c.(88-90)Ggt>Tgt	p.G30C		NM_000761	NP_000752	P05177	CP1A2_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA.	30					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	GGTGCTCAAGGGTTTGAGGCC	0.602000														210			113		1.26781e-57	1.29439e-57	1	1	0
ATF7IP2	80063	broad.mit.edu	37	16	10524487	10524487	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:10524487C>T	uc002czw.3	+	1	169	c.10C>T	c.(10-12)Cca>Tca	p.P4S	ATF7IP2_uc010uyp.2_Intron|ATF7IP2_uc002czu.3_Missense_Mutation_p.P4S|ATF7IP2_uc002czv.3_Missense_Mutation_p.P4S|ATF7IP2_uc010uyo.2_Non-coding_Transcript|ATF7IP2_uc010uyq.2_Non-coding_Transcript	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN	Homo sapiens activating transcription factor 7 interacting protein 2 (ATF7IP2), transcript variant 1, mRNA.	4					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						GATGGCAAGTCCAGATAGAAG	0.323000														19			18		0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580245	140580245	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:140580245G>A	uc003liy.3	+	0	898	c.898G>A	c.(898-900)Gaa>Aaa	p.E300K		NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	Homo sapiens protocadherin beta 11 (PCDHB11), mRNA.	300	Cadherin 3.				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)			AAAGTCTGGAGAAATTACTTT	0.368000														41			44		0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40668655	40668655	+	Splice_Site	SNP	G	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:40668655G>T	uc001rmg.4	+	16	1923	c.1802_splice	c.e16-1	p.E601_splice	LRRK2_uc001rmh.1_Splice_Site_p.E223_splice	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	601					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TATTTTCCTAGAAATTCAGTG	0.318000														17			7		2.7689e-08	2.7953e-08	1	1	0
RANBP3L	202151	broad.mit.edu	37	5	36301446	36301446	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:36301446C>T	uc011cow.2	-	0	566	c.73G>A	c.(73-75)Gag>Aag	p.E25K	RANBP3L_uc003jkh.3_Missense_Mutation_p.E25K	NM_001161429	NP_001154901	Q86VV4	RNB3L_HUMAN	Homo sapiens RAN binding protein 3-like (RANBP3L), transcript variant 1, mRNA.	25					intracellular transport					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			CGCCGGTCCTCCTGCAGCTTC	0.527000														68			83		0	0	1	0	0
ICK	22858	broad.mit.edu	37	6	52870054	52870054	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:52870054A>T	uc003pbh.2	-	14	2282	c.1792T>A	c.(1792-1794)Ttc>Atc	p.F598I	ICK_uc003pbi.2_Missense_Mutation_p.F598I	NM_016513	NP_057597	Q9UPZ9	ICK_HUMAN	Homo sapiens intestinal cell (MAK-like) kinase (ICK), transcript variant 2, mRNA.	598				FH -> LD (in Ref. 1; AAF37278).	intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					TGGGTGTGGAAGAATGGTCGC	0.562000														29			18		0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1189707	1189707	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:1189707G>A	uc003boz.3	+	1	282	c.15G>A	c.(13-15)tgG>tgA	p.W5*	CNTN6_uc010hbo.2_5'UTR|CNTN6_uc011asj.2_Intron|CNTN6_uc003bpa.3_Nonsense_Mutation_p.W5*	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	5					Notch signaling pathway|axon guidance|cell adhesion|central nervous system development	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GGTTGCTATGGAAACTGGTAA	0.348000														65			24		0	0	1	0	0
TMEM52	339456	broad.mit.edu	37	1	1849777	1849777	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:1849777C>T	uc001aij.2	-	3	300	c.264G>A	c.(262-264)caG>caA	p.Q88Q	TMEM52_uc001aii.2_Silent_p.Q73Q	NM_178545	NP_848640	Q8NDY8	TMM52_HUMAN	Homo sapiens transmembrane protein 52 (TMEM52), mRNA.	88						integral to membrane				NS(1)|prostate(1)|stomach(1)	3	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-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)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCAGATGTGGCTGGGCCTGTG	0.627000														35			19		0	0	1	0	0
MVK	4598	broad.mit.edu	37	12	110024576	110024576	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:110024576C>T	uc001toy.4	+	6	833	c.649C>T	c.(649-651)Cat>Tat	p.H217Y	MVK_uc009zvk.3_Missense_Mutation_p.H217Y|MVK_uc010sxr.2_Missense_Mutation_p.H165Y|MVK_uc001toz.4_Missense_Mutation_p.H23Y|MVK_uc021rdo.1_Missense_Mutation_p.H217Y|MVK_uc001tpc.4_Non-coding_Transcript	NM_001114185	NP_001107657	Q03426	KIME_HUMAN	Homo sapiens mevalonate kinase (MVK), transcript variant 2, mRNA.	217					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|peroxisome	ATP binding|identical protein binding|mevalonate kinase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						CCTCCGATACCATCAAGGGAA	0.507000														42			12		0	0	1	0	0
UNC5B	219699	broad.mit.edu	37	10	73053615	73053615	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:73053615C>T	uc001jro.3	+	12	2551	c.2100C>T	c.(2098-2100)ttC>ttT	p.F700F	UNC5B_uc001jrp.3_Silent_p.F689F	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	Homo sapiens unc-5 homolog B (C. elegans) (UNC5B), transcript variant 1, mRNA.	700					apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						TGGCCGTCTTCGCCCCCGCCC	0.657000														30			3		0	0	1	0	0
HIF1A	3091	broad.mit.edu	37	14	62207603	62207603	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:62207603G>A	uc001xfq.2	+	11	2194	c.1790G>A	c.(1789-1791)aGc>aAc	p.S597N	HIF1A_uc001xfr.2_Missense_Mutation_p.S597N|HIF1A_uc001xfs.2_Missense_Mutation_p.S598N|HIF1A_uc021rua.1_Missense_Mutation_p.S621N	NM_001530	NP_001521	Q16665	HIF1A_HUMAN	Homo sapiens hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) (HIF1A), transcript variant 1, mRNA.	597	ID.|ODD.				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	Hsp90 protein binding|histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)		AGTCCTCAAAGCACAGTTACA	0.448000														43			22		0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38338860	38338860	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:38338860C>T	uc003jlc.2	+	2	614	c.268C>T	c.(268-270)Ctc>Ttc	p.L90F	EGFLAM_uc003jlb.2_Missense_Mutation_p.L90F	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	90	Fibronectin type-III 1.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CAGCGTGCCTCTCAGCCGGGA	0.557000														27			7		0	0	1	0	0
RASGRP4	115727	broad.mit.edu	37	19	38911562	38911562	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:38911562G>A	uc021uub.1	-	3	577	c.363C>T	c.(361-363)atC>atT	p.I121I	RASGRP4_uc010efz.2_Non-coding_Transcript|RASGRP4_uc010ega.2_Non-coding_Transcript|RASGRP4_uc021utz.1_Silent_p.I121I|RASGRP4_uc021uua.1_Silent_p.I121I|RASGRP4_uc021uuc.1_Silent_p.I121I|RASGRP4_uc021uud.1_Silent_p.I121I|RASGRP4_uc021uue.1_Silent_p.I121I|RASGRP4_uc021uuf.1_Silent_p.I121I	NM_170604	NP_733749	Q8TDF6	GRP4_HUMAN	Homo sapiens RAS guanyl releasing protein 4 (RASGRP4), transcript variant a, mRNA.	121	N-terminal Ras-GEF.				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	GTP-dependent protein binding|Ras guanyl-nucleotide exchange factor activity|diacylglycerol binding|metal ion binding			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCAGGTGACAGATCTGCAGCC	0.572000														32			18		0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1983503	1983503	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:1983503C>T	uc002qxe.3	-	5	874	c.47G>A	c.(46-48)gGg>gAg	p.G16E	MYT1L_uc002qxd.3_Missense_Mutation_p.G16E|MYT1L_uc002qxf.1_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	16					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.K15R(1)|p.G16G(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		ACCTCGAACCCCTTTGGACCG	0.597000														16			6		0	0	1	0	0
MICALL1	85377	broad.mit.edu	37	22	38321817	38321818	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:38321817_38321818CC>TT	uc003aui.3	+	7	1507_1508	c.1232_1233CC>TT	c.(1231-1233)gcc>gTT	p.A411V		NM_033386	NP_203744	Q8N3F8	MILK1_HUMAN	Homo sapiens MICAL-like 1 (MICALL1), mRNA.	411	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)					GAGGAGGTGGCCCAGCCGAGCC	0.644000														27			10		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40733217	40733217	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:40733217C>T	uc002xkg.3	-	24	3716	c.3532G>A	c.(3532-3534)Gaa>Aaa	p.E1178K	PTPRT_uc010ggj.3_Missense_Mutation_p.E1197K|PTPRT_uc010ggi.3_Missense_Mutation_p.E381K	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1178	Tyrosine-protein phosphatase 2.				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.E1177*(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)				ACCTGAAATTCATCTTTGATT	0.458000														70			16		0	0	1	0	0
ZNF311	282890	broad.mit.edu	37	6	28963254	28963254	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:28963254G>A	uc003nlu.2	-	6	2036	c.1525C>T	c.(1525-1527)Caa>Taa	p.Q509*	ZNF311_uc011dlk.1_Nonsense_Mutation_p.Q417*|ZNF311_uc003nlv.2_Nonsense_Mutation_p.Q417*	NM_001010877	NP_001010877	Q5JNZ3	ZN311_HUMAN	Homo sapiens zinc finger protein 311 (ZNF311), mRNA.	509					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						TGCTTATCTTGGAAGGTTTTC	0.468000														52			11		0	0	1	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68139441	68139441	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:68139441G>A	uc003xxo.2	-	26	4237	c.3847C>T	c.(3847-3849)Cat>Tat	p.H1283Y	ARFGEF1_uc003xxl.1_Missense_Mutation_p.H737Y|ARFGEF1_uc003xxn.2_Missense_Mutation_p.H266Y	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) (ARFGEF1), mRNA.	1283					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GCAGCTAGATGAAATACAGAG	0.398000														46			30		0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92732660	92732660	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:92732660G>A	uc003umf.3	-	2	3021	c.2751C>T	c.(2749-2751)ctC>ctT	p.L917L	SAMD9_uc003umg.3_Silent_p.L917L|SAMD9_uc022ahg.1_Silent_p.L917L	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	917						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GAAAAGAAAAGAGCTTTGCTT	0.348000														37			13		0	0	1	0	0
DPPA2	151871	broad.mit.edu	37	3	109028157	109028157	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:109028157C>T	uc003dxo.3	-	3	449	c.202G>A	c.(202-204)Gag>Aag	p.E68K		NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN	Homo sapiens developmental pluripotency associated 2 (DPPA2), mRNA.	68						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTAAATTGCTCATTTGTTTGA	0.383000														59			22		0	0	1	0	0
NEFH	4744	broad.mit.edu	37	22	29885196	29885196	+	Missense_Mutation	SNP	G	A	A	rs56916487		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:29885196G>A	uc003afo.3	+	3	1638	c.1567G>A	c.(1567-1569)Gag>Aag	p.E523K	KIAA0845_uc003afp.3_5'Flank	NM_021076	NP_066554	P12036	NFH_HUMAN	Homo sapiens neurofilament, heavy polypeptide (NEFH), mRNA.	523	Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AGTAAAGGAAGAGGCAAAGTC	0.547000														53			10		0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51096303	51096303	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:51096303C>T	uc003tps.3	-	10	2846	c.2661G>A	c.(2659-2661)ggG>ggA	p.G887G	COBL_uc003tpr.4_Silent_p.G830G|COBL_uc011kcl.2_Silent_p.G830G|COBL_uc003tpp.4_Silent_p.G616G|COBL_uc003tpq.4_Silent_p.G771G|COBL_uc003tpo.4_Silent_p.G372G	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	830										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)					TTCTCCCCTCCCCTAGGGGGT	0.602000														48			25		0	0	1	0	0
RRP1B	23076	broad.mit.edu	37	21	45094993	45094993	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr21:45094993C>T	uc002zdk.3	+	5	612	c.498C>T	c.(496-498)ttC>ttT	p.F166F		NM_015056	NP_055871	Q14684	RRP1B_HUMAN	Homo sapiens ribosomal RNA processing 1 homolog B (S. cerevisiae) (RRP1B), mRNA.	166					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		GAGTGAGATTCCACTTCATTG	0.527000														85			33		0	0	1	0	0
FAM53C	51307	broad.mit.edu	37	5	137681138	137681138	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:137681138C>T	uc003lcv.3	+	3	1231	c.761C>T	c.(760-762)tCc>tTc	p.S254F	FAM53C_uc003lcw.3_Missense_Mutation_p.S254F|FAM53C_uc011cyq.2_Non-coding_Transcript|FAM53C_uc011cyr.2_Missense_Mutation_p.P70S	NM_001135647	NP_057689	Q9NYF3	FA53C_HUMAN	Homo sapiens family with sequence similarity 53, member C (FAM53C), transcript variant 1, mRNA.	254										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TCTCCCGCATCCTCCCCAGAG	0.662000														95			19		0	0	1	0	0
RNF165	494470	broad.mit.edu	37	18	44030317	44030317	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr18:44030317G>A	uc002lcb.1	+	4	725	c.674G>A	c.(673-675)gGa>gAa	p.G225E	RNF165_uc002lby.1_Missense_Mutation_p.G158E|RNF165_uc010dnn.1_Missense_Mutation_p.G21E	NM_152470	NP_689683	Q6ZSG1	RN165_HUMAN	Homo sapiens ring finger protein 165 (RNF165), mRNA.	225							zinc ion binding			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		GCTCTCCAGGGACTAAATCCC	0.502000														13			28		0	0	1	0	0
RASGRF1	5923	broad.mit.edu	37	15	79304855	79304855	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:79304855C>T	uc002beq.3	-	13	2216	c.1841G>A	c.(1840-1842)gGg>gAg	p.G614E	RASGRF1_uc002bep.3_Intron|RASGRF1_uc010blm.1_Intron|RASGRF1_uc002ber.4_Intron|RASGRF1_uc010unh.1_Intron	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.	614					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						ttccctggtcccCTCCCTGGT	0.458000														28			24		0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31335980	31335980	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:31335980C>T	uc002ebr.3	+	17	2267	c.2169C>T	c.(2167-2169)atC>atT	p.I723I	ITGAM_uc002ebq.3_Silent_p.I722I|ITGAM_uc010can.3_Silent_p.I128I|ITGAM_uc002ebs.1_Silent_p.I128I|ITGAM_uc010vfj.1_5'Flank	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	722					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						AGAATTGCATCGAGGACCCAG	0.602000														5			11		0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32638596	32638596	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr21:32638596G>A	uc002yow.1	-	4	1165	c.693C>T	c.(691-693)tcC>tcT	p.S231S	TIAM1_uc011adk.1_Silent_p.S231S|TIAM1_uc011adl.1_Silent_p.S231S|TIAM1_uc002yox.1_Intron	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	231					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						AGTCACCCAAGGAATTGGCTC	0.562000														30			38		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38993177	38993177	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:38993177G>A	uc002oit.3	+	47	7775	c.7645G>A	c.(7645-7647)Gcg>Acg	p.A2549T	RYR1_uc002oiu.3_Missense_Mutation_p.A2549T|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2549	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GATGGCGCTGGCGCTGAACCG	0.652000														16			7		0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49699339	49699339	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:49699339C>T	uc003cxe.4	+	5	10175	c.10061C>T	c.(10060-10062)tCc>tTc	p.S3354F		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	3354					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)		GCTGCCATCTCCTCAAAGCGC	0.577000														43			19		0	0	1	0	0
OR7E24	26648	broad.mit.edu	37	19	9361812	9361812	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:9361812C>T	uc002mlb.1	+	0	93	c.93C>T	c.(91-93)ctC>ctT	p.L31L		NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily E, member 24 (OR7E24), mRNA.	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						CAGAATTCCTCCTCCTGGGAC	0.502000														18			6		0	0	1	0	0
OR10J5	127385	broad.mit.edu	37	1	159505103	159505103	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:159505103C>T	uc010piw.2	-	0	695	c.695G>A	c.(694-696)gGc>gAc	p.G232D		NM_001004469	NP_001004469	Q8NHC4	O10J5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 5 (OR10J5), mRNA.	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E231E(1)		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)					CTTCTTCCGGCCCTCAGCTGA	0.478000														55			20		0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121381620	121381620	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:121381620G>A	uc003yox.3	+	46	5472	c.5207G>A	c.(5206-5208)gGa>gAa	p.G1736E	COL14A1_uc003yoz.3_Missense_Mutation_p.G701E	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1736	Triple-helical region 2 (COL1).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GGCTCTCCTGGACCAAGAGGC	0.592000														33			15		0	0	1	0	0
LCE1A	353131	broad.mit.edu	37	1	152800119	152800119	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:152800119G>A	uc010pdw.2	+	0	171	c.171G>A	c.(169-171)ggG>ggA	p.G57G		NM_178348	NP_848125	Q5T7P2	LCE1A_HUMAN	Homo sapiens late cornified envelope 1A (LCE1A), mRNA.	57	Cys-rich.				keratinization					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCAGCTCTGGGGGCGGCTGCA	0.672000														80			25		0	0	1	0	0
PLEKHA1	59338	broad.mit.edu	37	10	124183730	124183730	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:124183730C>T	uc001lge.2	+	8	946	c.697C>T	c.(697-699)Cgt>Tgt	p.R233C	PLEKHA1_uc001lgf.2_Missense_Mutation_p.R233C|PLEKHA1_uc001lgg.2_Missense_Mutation_p.R233C	NM_001001974	NP_067635	Q9HB21	PKHA1_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1 (PLEKHA1), transcript variant 2, mRNA.	233	PH 2.				B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization	cytoplasm|nucleus|ruffle membrane	PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGAACCTCTTCGTGTAATACC	0.338000														17			4		0	0	1	0	0
TREML2	79865	broad.mit.edu	37	6	41162470	41162470	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:41162470G>A	uc010jxm.1	-	2	657	c.478C>T	c.(478-480)Cct>Tct	p.P160S		NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA.	160					T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					GTGGTAAAAGGGGCATCAGGG	0.542000														37			6		0	0	1	0	0
C4orf50	389197	broad.mit.edu	37	4	5966815	5966815	+	RNA	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:5966815G>A	uc003git.2	-	5		c.1813C>T						Q6ZRC1	CD050_HUMAN	Homo sapiens cDNA FLJ46481 fis, clone THYMU3025772.											breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						CCAGGACTCTGAAGACAATGA	0.507000														19			18		0	0	1	0	0
C12orf35	55196	broad.mit.edu	37	12	32137076	32137076	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:32137076C>T	uc001rks.3	+	3	3601	c.3187C>T	c.(3187-3189)Cct>Tct	p.P1063S		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	Homo sapiens chromosome 12 open reading frame 35 (C12orf35), mRNA.	1063										NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	59	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)			AAAAGAGTTTCCTTATGGCAT	0.433000														72			46		0	0	1	0	0
PHRF1	57661	broad.mit.edu	37	11	598398	598398	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:598398C>T	uc001lqe.3	+	8	1051	c.920C>T	c.(919-921)tCc>tTc	p.S307F	PHRF1_uc010qwc.2_Missense_Mutation_p.S307F|PHRF1_uc010qwd.2_Missense_Mutation_p.S306F|PHRF1_uc010qwe.2_Missense_Mutation_p.S303F|PHRF1_uc009ybz.1_Missense_Mutation_p.S98F	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA.	307	Arg-rich.						RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CTCGGGTCTTCCCTGCTGGAT	0.672000														28			8		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106586400	106586400	+	RNA	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:106586400C>T	uc021ser.1	-	1811		c.33896G>A			abParts_uc001ysv.3_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		TGTACCAAGCCTCCCCCAGAC	0.542000														34			44		0	0	1	0	0
FBXO40	51725	broad.mit.edu	37	3	121342001	121342001	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:121342001C>T	uc003eeg.2	+	2	1935	c.1725C>T	c.(1723-1725)agC>agT	p.S575S		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	Homo sapiens F-box protein 40 (FBXO40), mRNA.	575	F-box.				muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		CTTTAACCAGCCTGCCCCTGG	0.522000														65			21		0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158483096	158483096	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:158483096G>A	uc003qqx.2	+	7	1133	c.1027G>A	c.(1027-1029)Ggt>Agt	p.G343S	SYNJ2_uc011efm.2_Non-coding_Transcript|SYNJ2_uc003qqw.2_Missense_Mutation_p.G343S|SYNJ2_uc003qqy.2_Missense_Mutation_p.G106S|SYNJ2_uc011efn.1_Missense_Mutation_p.G271S|SYNJ2_uc010kjo.1_Missense_Mutation_p.G292S|SYNJ2_uc003qqz.2_5'UTR	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	343	SAC.						RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GTTTGCCAAAGGTGGGAAGCT	0.537000														109			52		0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43484526	43484526	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:43484526G>A	uc003tid.1	+	10	2360	c.1755G>A	c.(1753-1755)gcG>gcA	p.A585A	HECW1_uc011kbi.1_Silent_p.A585A	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	585					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AGGACGGCGCGGAGGAGGAGT	0.682000														43			13		0	0	1	0	0
FAM71B	153745	broad.mit.edu	37	5	156590190	156590190	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:156590190C>T	uc003lwn.3	-	1	1186	c.1086G>A	c.(1084-1086)ggG>ggA	p.G362G		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	362						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)			GACTGGCGGCCCCCGCCATCG	0.577000														30			7		0	0	1	0	0
TTF1	7270	broad.mit.edu	37	9	135277525	135277525	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:135277525G>A	uc004cbl.3	-	1	753	c.684C>T	c.(682-684)aaC>aaT	p.N228N	TTF1_uc004cbm.3_Intron|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.	228					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)		CATATTCCCGGTTACTGGACT	0.493000														23			15		0	0	1	0	0
LUC7L3	51747	broad.mit.edu	37	17	48823997	48823997	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:48823997C>T	uc002isq.3	+	8	1240	c.1072C>T	c.(1072-1074)Cga>Tga	p.R358*	LUC7L3_uc010wmw.2_Nonsense_Mutation_p.R282*|LUC7L3_uc002isr.3_Nonsense_Mutation_p.R358*|LUC7L3_uc002iss.3_Nonsense_Mutation_p.R358*	NM_016424	NP_057508	O95232	LC7L3_HUMAN	Homo sapiens LUC7-like 3 (S. cerevisiae) (LUC7L3), transcript variant 1, mRNA.	358	Arg/Ser-rich.				RNA splicing|apoptosis|mRNA processing|response to stress	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						AAGCCGGGATCGAAAGTCATA	0.393000														89			13		0	0	1	0	0
LRRC66	339977	broad.mit.edu	37	4	52861599	52861599	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:52861599C>T	uc003gzi.3	-	3	1596	c.1589G>A	c.(1588-1590)aGg>aAg	p.R530K		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	Homo sapiens leucine rich repeat containing 66 (LRRC66), mRNA.	530						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						AATATCATTCCTATGGATGTG	0.507000														73			31		0	0	1	0	0
RDBP	7936	broad.mit.edu	37	6	31922210	31922210	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:31922210G>A	uc003nyk.3	-	7	956	c.752C>T	c.(751-753)tCa>tTa	p.S251L	RDBP_uc011dot.2_Missense_Mutation_p.S221L	NM_002904	NP_002895	P18615	NELFE_HUMAN	Homo sapiens RD RNA binding protein (RDBP), mRNA.	251					positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	mitochondrion|nucleoplasm	RNA binding|nucleotide binding|protein binding			cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)	9						TTCAGGGAATGAATCCGACCC	0.483000														63			39		0	0	1	0	0
TRIM55	84675	broad.mit.edu	37	8	67064725	67064725	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:67064725C>T	uc003xvv.3	+	7	1325	c.1099C>T	c.(1099-1101)Cca>Tca	p.P367S	TRIM55_uc003xvu.3_Missense_Mutation_p.P367S|TRIM55_uc003xvw.3_Missense_Mutation_p.P367S|TRIM55_uc003xvx.3_Intron	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA.	367						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)			AACAGAGTTTCCAGGAGAAGA	0.502000														29			12		0	0	1	0	0
ASS1	445	broad.mit.edu	37	9	133352336	133352336	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:133352336G>A	uc010mza.3	+	9	1412	c.904G>A	c.(904-906)Gag>Aag	p.E302K	ASS1_uc004bzm.3_Missense_Mutation_p.E226K|ASS1_uc004bzn.3_Missense_Mutation_p.E226K	NM_054012	NP_446464	P00966	ASSY_HUMAN	Homo sapiens argininosuccinate synthase 1 (ASS1), transcript variant 2, mRNA.	226			M -> V (in CTLN1).		arginine biosynthetic process|urea cycle	cytosol	ATP binding|argininosuccinate synthase activity|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	TCTCGAGATCGAGTTCAAAAA	0.562000														57			29		0	0	1	0	0
LMF2	91289	broad.mit.edu	37	22	50941960	50941960	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:50941960G>A	uc003blp.2	-	13	2015	c.1984C>T	c.(1984-1986)Cgg>Tgg	p.R662W	LMF2_uc003blo.2_Missense_Mutation_p.R637W	NM_033200	NP_149977	Q9BU23	LMF2_HUMAN	Homo sapiens lipase maturation factor 2 (LMF2), mRNA.	662						endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGGGAGGACCGGAGAGAACAG	0.687000														20			10		0	0	1	0	0
MUC15	143662	broad.mit.edu	37	11	26587338	26587338	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:26587338C>T	uc001mqw.3	-	2	422	c.149G>A	c.(148-150)gGa>gAa	p.G50E	ANO3_uc010rdr.2_Intron|ANO3_uc001mqt.4_Intron|ANO3_uc010rds.2_Intron|ANO3_uc010rdt.2_Intron|MUC15_uc001mqx.3_Missense_Mutation_p.G23E|MUC15_uc001mqy.3_Missense_Mutation_p.G50E	NM_001135091	NP_663625	Q8N387	MUC15_HUMAN	Homo sapiens mucin 15, cell surface associated (MUC15), transcript variant 1, mRNA.	23						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						ATTTTCTTTTCCATGGCTCCC	0.323000														37			8		0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156924024	156924024	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:156924024G>A	uc003lwz.3	-	13	1551	c.1472C>T	c.(1471-1473)tCt>tTt	p.S491F	ADAM19_uc003lww.2_Missense_Mutation_p.S224F|ADAM19_uc003lwy.3_Missense_Mutation_p.S90F|ADAM19_uc011ddr.1_Missense_Mutation_p.S422F	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Homo sapiens ADAM metallopeptidase domain 19 (ADAM19), mRNA.	491	Disintegrin.				proteolysis	integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCAGTGGGGAGACTTGCCCGT	0.612000														20			5		0	0	1	0	0
PIGQ	9091	broad.mit.edu	37	16	624314	624314	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:624314C>T	uc002cho.3	+	1	378	c.240C>T	c.(238-240)ttC>ttT	p.F80F	PIGQ_uc010bqw.3_Silent_p.F80F|PIGQ_uc002chm.3_Silent_p.F80F|PIGQ_uc002chn.3_Silent_p.F80F|PIGQ_uc010uui.2_Silent_p.F94F	NM_148920	NP_683721	Q9BRB3	PIGQ_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class Q (PIGQ), transcript variant 1, mRNA.	80					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				TGGGCCGCTTCCTGGAGAGCC	0.726000														11			8		0	0	1	0	0
ZBTB46	140685	broad.mit.edu	37	20	62421849	62421849	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:62421849C>T	uc002ygv.2	-	1	463	c.262G>A	c.(262-264)Gac>Aac	p.D88N	ZBTB46_uc002ygu.3_Non-coding_Transcript	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	Homo sapiens zinc finger and BTB domain containing 46 (ZBTB46), mRNA.	88	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					TACATGAAGTCGATGATGGCC	0.602000														21			11		0	0	1	0	0
KIAA0141	9812	broad.mit.edu	37	5	141304153	141304153	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:141304153C>T	uc003lls.3	+	1	161	c.39C>T	c.(37-39)ccC>ccT	p.P13P	KIAA0141_uc003llt.3_Silent_p.P13P	NM_001142603	NP_055588	Q14154	DELE_HUMAN	Homo sapiens KIAA0141 (KIAA0141), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	13					apoptosis|regulation of caspase activity	mitochondrion	protein binding			endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCTCTTCCCCGTACACTGG	0.527000														64			13		0	0	1	0	0
CD1E	913	broad.mit.edu	37	1	158323802	158323802	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:158323802C>T	uc001fse.3	+	0	317	c.24C>T	c.(22-24)ttC>ttT	p.F8F	CD1E_uc010pid.2_Intron|CD1E_uc010pie.2_Silent_p.F8F|CD1E_uc001fsh.3_Silent_p.F8F|CD1E_uc001fry.3_Silent_p.F8F|CD1E_uc001fsf.3_Silent_p.F8F|CD1E_uc001fsg.3_Silent_p.F8F|CD1E_uc009wsv.3_Silent_p.F8F|CD1E_uc001fsj.3_Silent_p.F8F|CD1E_uc001fsk.3_Silent_p.F8F|CD1E_uc001fsa.3_Silent_p.F8F|CD1E_uc001fsd.3_Silent_p.F8F|CD1E_uc001frz.3_Silent_p.F8F|CD1E_uc010pig.2_Silent_p.F8F|CD1E_uc001fsc.3_Silent_p.F8F|CD1E_uc021pbm.1_5'Flank|CD1E_uc009wsw.3_5'Flank	NM_030893	NP_112155	P15812	CD1E_HUMAN	Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA.	8					antigen processing and presentation|immune response	Golgi membrane|early endosome|integral to plasma membrane|late endosome|lysosomal lumen		p.F8L(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TCCTCCTCTTCGAGGGTCTCT	0.522000														27			20		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	132193153	132193153	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:132193153G>A	uc003vra.4	-	1	529	c.300C>T	c.(298-300)atC>atT	p.I100I	PLXNA4_uc003vrc.2_Silent_p.I100I|PLXNA4_uc003vrb.3_Silent_p.I100I	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	100	Sema.					integral to membrane|intracellular|plasma membrane		p.R99C(1)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AGGTCTGGACGATGCGGGGTG	0.557000														44			21		0	0	1	0	0
P4HA1	5033	broad.mit.edu	37	10	74806855	74806855	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:74806855G>A	uc021ptk.1	-	6	937	c.905C>T	c.(904-906)cCt>cTt	p.P302L	P4HA1_uc010qka.2_Missense_Mutation_p.P302L|P4HA1_uc001jth.3_Missense_Mutation_p.P302L|P4HA1_uc001jtg.3_Missense_Mutation_p.P302L|P4HA1_uc010qkb.2_Missense_Mutation_p.P302L|P4HA1_uc021ptj.1_Missense_Mutation_p.P302L	NM_001142595	NP_001136067	P13674	P4HA1_HUMAN	Homo sapiens prolyl 4-hydroxylase, alpha polypeptide I (P4HA1), transcript variant 3, mRNA.	302						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)	CTGTCTCCGAGGGGTCTAAAC	0.353000														36			7		0	0	1	0	0
POLRMT	5442	broad.mit.edu	37	19	619591	619591	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:619591G>A	uc002lpf.1	-	12	3117	c.3061C>T	c.(3061-3063)Ccc>Tcc	p.P1021S		NM_005035	NP_005026	O00411	RPOM_HUMAN	Homo sapiens polymerase (RNA) mitochondrial (DNA directed) (POLRMT), nuclear gene encoding mitochondrial protein, mRNA.	1021	Mediates interaction with TEFM.				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)		CGCACCTGGGGAAAGTCGCTC	0.637000														55			23		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48313031	48313032	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:48313031_48313032CC>TT	uc003toq.2	+	16	3792_3793	c.3768_3769CC>TT	c.(3766-3771)tccctt>tcTTtt	p.L1257F	ABCA13_uc010kyr.2_Missense_Mutation_p.L760F|ABCA13_uc022acp.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	1257					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGGAGAAATCCCTTTTCACCAT	0.381000														13			6		0	0	1	0	0
ANKRD20A2	441430	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	C	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:95522772T>C	uc010fhp.3	-	0		c.49A>G						Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A8, pseudogene (ANKRD20A8P), non-coding RNA.									p.E49G(1)		large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						GCGCTCCACCTCCGCGGCGTC	0.682000														62			4		0	0	1	0	0
CSH2	1443	broad.mit.edu	37	17	61949486	61949486	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:61949486C>T	uc002jch.3	-	4	769	c.654G>A	c.(652-654)taG>taA	p.*218*	CSH2_uc002jci.3_3'UTR|CSH2_uc002jcg.3_Silent_p.*123*	NM_020991	NP_066271	P01243	CSH_HUMAN	Homo sapiens chorionic somatomammotropin hormone 2 (CSH2), transcript variant 1, mRNA.	0					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			endometrium(2)|large_intestine(1)|lung(3)	6						ACGCGGGCACCTAGAAGCCAC	0.582000														36			36		0	0	1	0	0
ANGPTL4	51129	broad.mit.edu	37	19	8436168	8436168	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:8436168G>A	uc002mjq.1	+	5	996	c.801G>A	c.(799-801)ggG>ggA	p.G267G	ANGPTL4_uc002mjr.1_Silent_p.G229G|ANGPTL4_uc010xkc.1_Silent_p.G100G	NM_139314	NP_647475	Q9BY76	ANGL4_HUMAN	Homo sapiens angiopoietin-like 4 (ANGPTL4), transcript variant 1, mRNA.	267	Fibrinogen C-terminal.				angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						GCATCACGGGGGACCGCAACA	0.647000														38			14		0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57649949	57649949	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:57649949C>T	uc002qnz.1	-	2	419	c.33G>A	c.(31-33)gaG>gaA	p.E11E		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.	11	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CAGTGACATCCTCGAAGGTCA	0.483000														34			24		0	0	1	0	0
OR51A7	119687	broad.mit.edu	37	11	4929481	4929481	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:4929481G>A	uc010qyq.2	+	0	882	c.882G>A	c.(880-882)aaG>aaA	p.K294K		NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 7 (OR51A7), mRNA.	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACTGTGTAAAGACTCGACAAA	0.408000														41			31		0	0	1	0	0
ZNF606	80095	broad.mit.edu	37	19	58499640	58499640	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:58499640G>A	uc002qqw.3	-	5	953	c.335C>T	c.(334-336)tCc>tTc	p.S112F	ZNF606_uc010yhp.2_Missense_Mutation_p.S22F	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN	Homo sapiens zinc finger protein 606 (ZNF606), mRNA.	112	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		CTCCAACAGGGAGATGACCTC	0.527000														21			6		0	0	1	0	0
CRYGS	1427	broad.mit.edu	37	3	186256605	186256605	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:186256605G>A	uc003fqe.3	-	2	469	c.417C>T	c.(415-417)ttC>ttT	p.F139F		NM_017541	NP_060011	P22914	CRBS_HUMAN	Homo sapiens crystallin, gamma S (CRYGS), mRNA.	139	Beta/gamma crystallin 'Greek key' 4.						structural constituent of eye lens	p.I138F(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	11	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.5e-22)	GBM - Glioblastoma multiforme(93;0.0906)		GTAGCTCATAGAAAATCCAGA	0.532000														29			24		0	0	1	0	0
ZFYVE19	84936	broad.mit.edu	37	15	41106185	41106185	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:41106185C>T	uc001zmt.1	+	9	1768	c.1254C>T	c.(1252-1254)ctC>ctT	p.L418L	ZFYVE19_uc001zmu.1_Silent_p.L350L|ZFYVE19_uc001zmv.1_Silent_p.L243L	NM_001077268	NP_001070736	Q96K21	ZFY19_HUMAN	Homo sapiens zinc finger, FYVE domain containing 19 (ZFYVE19), mRNA.	418							zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)		AAGAGGAGCTCCCCTGGTGCT	0.612000														96			25		0	0	1	0	0
AMPH	273	broad.mit.edu	37	7	38530661	38530661	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:38530661G>A	uc003tgu.3	-	4	601	c.385C>T	c.(385-387)Cct>Tct	p.P129S	AMPH_uc003tgv.3_Missense_Mutation_p.P129S	NM_001635	NP_001626	P49418	AMPH_HUMAN	Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA.	129	BAR.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		p.P129S(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TTTATGTCAGGAAATTGCCCC	0.398000														147			27		0	0	1	0	0
CPPED1	55313	broad.mit.edu	37	16	12875119	12875119	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:12875119G>A	uc002dca.4	-	1	323	c.212C>T	c.(211-213)gCc>gTc	p.A71V	CPPED1_uc002dcb.4_Missense_Mutation_p.A71V	NM_018340	NP_060810	Q9BRF8	CPPED_HUMAN	Homo sapiens calcineurin-like phosphoesterase domain containing 1 (CPPED1), transcript variant 1, mRNA.	71							hydrolase activity|metal ion binding	p.A71A(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						GGCCTGGACGGCTTGCTCAGT	0.572000														19			9		0	0	1	0	0
CDC42	998	broad.mit.edu	37	1	22412950	22412950	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:22412950G>A	uc001bfq.3	+	4	489	c.197G>A	c.(196-198)aGa>aAa	p.R66K	CDC42_uc009vqg.1_Missense_Mutation_p.R66K|CDC42_uc001bfp.3_Missense_Mutation_p.R66K|CDC42_uc009vqh.3_Missense_Mutation_p.R25K|CDC42_uc001bfr.3_Missense_Mutation_p.R66K|CDC42_uc010odr.2_Missense_Mutation_p.R111K|CDC42_uc010ods.2_Missense_Mutation_p.R108K	NM_001039802	NP_001782	P60953	CDC42_HUMAN	Homo sapiens cell division cycle 42 (GTP binding protein, 25kDa) (CDC42), transcript variant 3, mRNA.	66					T cell costimulation|actin cytoskeleton organization|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|establishment or maintenance of cell polarity|macrophage differentiation|muscle cell differentiation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of protein complex assembly|positive regulation of muscle cell differentiation|positive regulation of pseudopodium assembly|regulation of filopodium assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|plasma membrane	GTP binding|GTPase activity|protein binding|thioesterase binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)	12		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)		GATTATGACAGATTACGACCG	0.378000														69			15		0	0	1	0	0
IL32	9235	broad.mit.edu	37	16	3119355	3119355	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:3119355G>A	uc002ctq.3	+	5	799	c.704G>A	c.(703-705)tGa>tAa	p.*235*	IL32_uc002ctn.3_Silent_p.*189*|IL32_uc002ctk.3_Silent_p.*132*|IL32_uc002cto.3_Silent_p.*235*|IL32_uc010uwp.2_Silent_p.*169*|IL32_uc010btb.3_Silent_p.*179*|IL32_uc002ctl.3_Silent_p.*189*|IL32_uc002ctm.3_Silent_p.*189*|IL32_uc002ctp.3_Silent_p.*169*|IL32_uc002ctr.3_Silent_p.*169*|IL32_uc002ctt.3_Silent_p.*189*|IL32_uc010uwr.2_Silent_p.*149*|IL32_uc002ctu.3_Silent_p.*180*|IL32_uc021tbc.1_Non-coding_Transcript	NM_004221	NP_004212	P24001	IL32_HUMAN	Homo sapiens interleukin 32 (IL32), transcript variant 2, mRNA.	0					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						TCCTCAAAATGAAGATACTGA	0.617000														125			11		0	0	1	0	0
SCRIB	23513	broad.mit.edu	37	8	144874996	144874996	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:144874996G>A	uc003yzp.1	-	29	4066	c.4059C>T	c.(4057-4059)tcC>tcT	p.S1353S	SCRIB_uc003yzn.1_Silent_p.S62S|SCRIB_uc003yzo.1_Silent_p.S1353S	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	Homo sapiens scribbled homolog (Drosophila) (SCRIB), transcript variant 2, mRNA.	1353					activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	Scrib-APC-beta-catenin complex|cell-cell adherens junction	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GCTCCCGGAAGGACAGCTGCT	0.706000														9			3		0	0	1	0	0
STEAP4	79689	broad.mit.edu	37	7	87913477	87913477	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:87913477C>T	uc022agz.1	-	2	331	c.108G>A	c.(106-108)ttG>ttA	p.L36L	STEAP4_uc003ujs.3_Silent_p.L36L|STEAP4_uc010lek.3_Silent_p.L36L	NM_001205315	NP_001192244	Q687X5	STEA4_HUMAN	Homo sapiens STEAP family member 4 (STEAP4), transcript variant 2, mRNA.	36					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					GGAGCATTTTCAATCCCAGTG	0.413000														45			24		0	0	1	0	0
SLFN12	55106	broad.mit.edu	37	17	33738808	33738808	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:33738808G>A	uc002hji.4	-	3	1663	c.1286C>T	c.(1285-1287)tCt>tTt	p.S429F	SLFN12_uc002hjj.4_Missense_Mutation_p.S429F|SLFN12_uc010cts.3_Missense_Mutation_p.S429F	NM_018042	NP_060512	Q8IYM2	SLN12_HUMAN	Homo sapiens schlafen family member 12 (SLFN12), mRNA.	429							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)		CAGATCCACAGACCAGCTCCT	0.453000														23			39		0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	32453371	32453371	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:32453371G>A	uc003xiv.2	+	1	643	c.126G>A	c.(124-126)atG>atA	p.M42I	NRG1_uc022ats.1_Missense_Mutation_p.M21I|NRG1_uc003xip.3_Missense_Mutation_p.M257I|NRG1_uc003xir.3_Missense_Mutation_p.M42I|NRG1_uc010lvl.3_Missense_Mutation_p.M42I|NRG1_uc010lvm.3_Missense_Mutation_p.M42I|NRG1_uc010lvn.3_Missense_Mutation_p.M42I|NRG1_uc003xis.3_Missense_Mutation_p.M42I|NRG1_uc011lbf.1_Missense_Mutation_p.M42I|NRG1_uc010lvo.2_Missense_Mutation_p.M42I|NRG1_uc003xiu.2_Missense_Mutation_p.M42I|NRG1_uc003xiw.2_Missense_Mutation_p.M42I|NRG1_uc003xit.2_Missense_Mutation_p.M42I|NRG1_uc010lvr.2_5'UTR|NRG1_uc010lvs.2_5'UTR|NRG1_uc010lvp.2_Missense_Mutation_p.M8I|NRG1_uc010lvq.2_Missense_Mutation_p.M1I	NM_013964	NP_039258	Q02297	NRG1_HUMAN	Homo sapiens neuregulin 1 (NRG1), transcript variant HRG-alpha, mRNA.	42	Ig-like C2-type.				Notch signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	ErbB-3 class receptor binding|cytokine activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		TGAAAGAGATGAAAAGCCAGG	0.423000														58			11		0	0	1	0	0
AKAP4	8852	broad.mit.edu	37	X	49961578	49961578	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:49961578G>A	uc004dow.1	-	3	364	c.240C>T	c.(238-240)atC>atT	p.I80I	AKAP4_uc004dou.1_Silent_p.I71I|AKAP4_uc004dov.1_Silent_p.I71I|AKAP4_uc010njp.1_5'UTR	NM_003886	NP_647450	Q5JQC9	AKAP4_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 4 (AKAP4), transcript variant 1, mRNA.	80					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CCTTGATCACGATAATCTCTT	0.423000														10			39		0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5186282	5186283	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:5186282_5186283CC>TT	uc003jdl.3	+	4	1019_1020	c.881_882CC>TT	c.(880-882)acc>aTT	p.T294I	ADAMTS16_uc003jdk.1_Missense_Mutation_p.T294I|ADAMTS16_uc003jdj.1_Missense_Mutation_p.T294I	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	294	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						AACGTGGAGACCTTGGTGGTGG	0.455000														38			37		0	0	1	0	0
EGFL6	25975	broad.mit.edu	37	X	13636087	13636087	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:13636087G>A	uc004cvj.3	+	7	1304	c.1017G>A	c.(1015-1017)atG>atA	p.M339I	EGFL6_uc004cvi.3_Missense_Mutation_p.M339I|EGFL6_uc011mik.1_Missense_Mutation_p.M240I	NM_001167890	NP_001161362	Q8IUX8	EGFL6_HUMAN	Homo sapiens EGF-like-domain, multiple 6 (EGFL6), transcript variant 2, mRNA.	339					cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						AAGAGAAAATGAAAGAGGGGC	0.448000														10			18		0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117304772	117304772	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:117304772C>T	uc003vjd.3	+	24	4126	c.3994C>T	c.(3994-3996)Cct>Tct	p.P1332S	CFTR_uc011knq.2_Missense_Mutation_p.P738S	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	1332	ABC transporter 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	AGAACAGTTTCCTGGGAAGCT	0.448000									Cystic Fibrosis					51			28		0	0	1	0	0
PRMT2	3275	broad.mit.edu	37	21	48064312	48064312	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr21:48064312C>T	uc002zjx.3	+	4	573	c.239C>T	c.(238-240)cCg>cTg	p.P80L	PRMT2_uc021wkc.1_Missense_Mutation_p.P80L|PRMT2_uc002zjw.3_Missense_Mutation_p.P80L|PRMT2_uc002zjy.3_Missense_Mutation_p.P80L|PRMT2_uc010gqm.3_Missense_Mutation_p.P80L|PRMT2_uc011aga.2_Missense_Mutation_p.P80L|PRMT2_uc011agb.2_Missense_Mutation_p.P80L|PRMT2_uc011agc.2_Missense_Mutation_p.P80L|PRMT2_uc002zjz.1_5'UTR	NM_206962	NP_996845	P55345	ANM2_HUMAN	Homo sapiens protein arginine methyltransferase 2 (PRMT2), transcript variant 1, mRNA.	80	SH3.				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)		GGGTACATTCCGGCAAACCAT	0.517000														74			14		0	0	1	0	0
ADH4	127	broad.mit.edu	37	4	100062792	100062792	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:100062792G>A	uc003hun.3	-	2	238	c.162C>T	c.(160-162)atC>atT	p.I54I	LOC100507053_uc003hum.2_Intron|ADH4_uc011ced.2_Silent_p.I73I	NM_000670	NP_000661	P08319	ADH4_HUMAN	Homo sapiens alcohol dehydrogenase 4 (class II), pi polypeptide (ADH4), mRNA.	54					alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	NAD binding|NADPH:quinone reductase activity|alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)	ATTTAGAATCGATAACAGTGG	0.453000														29			11		0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175372678	175372678	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:175372678C>T	uc001gkp.1	-	1	655	c.574G>A	c.(574-576)Gaa>Aaa	p.E192K	TNR_uc009wwu.1_Missense_Mutation_p.E192K|TNR_uc010pmz.1_Missense_Mutation_p.E192K	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	192	Cys-rich.|EGF-like 1.				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)					AACCAGCCTTCGTTGCAGATG	0.562000														112			65		0	0	1	0	0
TUBA4B	80086	broad.mit.edu	37	2	220136072	220136072	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:220136072C>T	uc002vkv.1	+	3	542	c.377C>T	c.(376-378)tCt>tTt	p.S126F	TUBA4B_uc002vku.3_Intron					Homo sapiens tubulin, alpha 4b (pseudogene) (TUBA4B), non-coding RNA.																		CCCTACAACTCTATCCTGACC	0.522000														38			23		0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121262927	121262928	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:121262927_121262928GG>AA	uc003yox.3	+	21	2939_2940	c.2674_2675GG>AA	c.(2674-2676)gga>AAa	p.G892K	COL14A1_uc003yoy.3_Missense_Mutation_p.G570K	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	892	Fibronectin type-III 7.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CCTCCTCAGCGGAATGGACTAC	0.465000														36			11		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26348290	26348290	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:26348290G>A	uc003abz.1	+	37	6121	c.5871G>A	c.(5869-5871)caG>caA	p.Q1957Q	MYO18B_uc003aca.1_Silent_p.Q1838Q|MYO18B_uc010guy.1_Silent_p.Q1839Q|MYO18B_uc010guz.1_Silent_p.Q1837Q|MYO18B_uc011aka.1_Silent_p.Q1111Q|MYO18B_uc011akb.1_Silent_p.Q1470Q|MYO18B_uc010gva.1_5'Flank	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1957	Tail.					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						ACCTGGAACAGTCCACCGTGG	0.512000														12			4		0	0	1	0	0
PLA2G2F	64600	broad.mit.edu	37	1	20471158	20471158	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:20471158G>A	uc009vpp.1	+	3	498	c.400G>A	c.(400-402)Gag>Aag	p.E134K		NM_022819	NP_073730	Q9BZM2	PA2GF_HUMAN	Homo sapiens phospholipase A2, group IIF (PLA2G2F), mRNA.	91					lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		TCACACCATCGAGAACAACAC	0.592000														8			4		0	0	1	0	0
ZNF484	83744	broad.mit.edu	37	9	95610657	95610657	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:95610657G>A	uc004asu.1	-	4	561	c.412C>T	c.(412-414)Cgt>Tgt	p.R138C	ANKRD19P_uc004asr.4_Intron|ZNF484_uc011lub.1_Missense_Mutation_p.R140C|ZNF484_uc004asv.1_Missense_Mutation_p.R102C|ZNF484_uc010mrb.1_Missense_Mutation_p.R102C	NM_031486	NP_001007102	Q5JVG2	ZN484_HUMAN	Homo sapiens zinc finger protein 484 (ZNF484), transcript variant 1, mRNA.	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R138C(4)		NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						AAGACAACACGACTTAAAGGT	0.368000														96			21		0	0	1	0	0
ATAD3C	219293	broad.mit.edu	37	1	1394582	1394582	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:1394582C>T	uc001aft.2	+	8	1778	c.783C>T	c.(781-783)ttC>ttT	p.F261F		NM_001039211	NP_001034300	Q5T2N8	ATD3C_HUMAN	Homo sapiens ATPase family, AAA domain containing 3C (ATAD3C), mRNA.	261							ATP binding|nucleoside-triphosphatase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	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;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)		TGAACGCCTTCCTGTACCGCA	0.632000														36			5		0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135201882	135201882	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:135201882G>A	uc004cbk.3	-	9	5286	c.5103C>T	c.(5101-5103)ttC>ttT	p.F1701F	SETX_uc004cbj.3_Silent_p.F1320F|SETX_uc010mzt.3_Silent_p.F1320F	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	Homo sapiens senataxin (SETX), mRNA.	1701					RNA processing|cell death|double-strand break repair	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CCTCTTTAACGAAGGTGTCAG	0.418000														30			5		0	0	1	0	0
HEPACAM	220296	broad.mit.edu	37	11	124805848	124805848	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:124805848G>C	uc001qbk.3	-	0	461	c.55C>G	c.(55-57)Cct>Gct	p.P19A	HEPACAM_uc001qbl.1_Missense_Mutation_p.P19A	NM_152722	NP_689935	Q14CZ8	HECAM_HUMAN	Homo sapiens hepatic and glial cell adhesion molecule (HEPACAM), mRNA.	19					cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	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;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		TAGACAAAAGGAGCAAGGCGC	0.542000														12			11		0	0	1	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44260436	44260436	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr18:44260436G>A	uc010xcy.1	-	7	1376	c.808C>T	c.(808-810)Cgc>Tgc	p.R270C	ST8SIA5_uc002lci.1_Missense_Mutation_p.R81C|ST8SIA5_uc002lcj.1_Missense_Mutation_p.R234C|ST8SIA5_uc010xcz.1_Missense_Mutation_p.R203C	NM_013305	NP_037437	O15466	SIA8E_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 (ST8SIA5), mRNA.	234					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						TGCAGCACGCGATAGAACGGC	0.637000														9			5		0	0	1	0	0
SGK2	10110	broad.mit.edu	37	20	42199313	42199313	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:42199313C>T	uc002xkv.3	+	5	816	c.597C>T	c.(595-597)taC>taT	p.Y199Y	SGK2_uc002xkr.3_Silent_p.Y139Y|SGK2_uc010ggm.3_Silent_p.Y139Y|SGK2_uc002xkt.3_Non-coding_Transcript|SGK2_uc002xku.3_Silent_p.Y139Y	NM_016276	NP_733794	Q9HBY8	SGK2_HUMAN	Homo sapiens serum/glucocorticoid regulated kinase 2 (SGK2), transcript variant 2, mRNA.	199	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CCAGGTTCTACGCTGCTGAGG	0.622000														82			17		0	0	1	0	0
KRBA1	84626	broad.mit.edu	37	7	149418604	149418604	+	Silent	SNP	C	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:149418604C>A	uc003wfz.3	+	4	843	c.444C>A	c.(442-444)gtC>gtA	p.V148V	KRBA1_uc010lpj.3_Non-coding_Transcript|KRBA1_uc003wga.3_Non-coding_Transcript|KRBA1_uc003wgb.3_5'Flank	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	Homo sapiens KRAB-A domain containing 1 (KRBA1), mRNA.	148										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GTGACGGGGTCCAGGGAAGTC	0.637000														15			8		1.12685e-05	1.13337e-05	1	1	0
SEMA6C	10500	broad.mit.edu	37	1	151110230	151110230	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:151110230A>C	uc001ewv.3	-	9	1049	c.713T>G	c.(712-714)tTc>tGc	p.F238C	SEMA6C_uc001ewu.3_Missense_Mutation_p.F238C|SEMA6C_uc001eww.3_Missense_Mutation_p.F198C|SEMA6C_uc009wml.2_Non-coding_Transcript	NM_001178061	NP_001171532	Q9H3T2	SEM6C_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C (SEMA6C), transcript variant 1, mRNA.	238	Sema.					integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCGGAAGAAGAAGTAGACATG	0.552000														44			44		0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33140318	33140318	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:33140318C>T	uc003ocx.1	-	38	3115	c.2887G>A	c.(2887-2889)Gaa>Aaa	p.E963K	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.E877K|COL11A2_uc003ocz.1_Missense_Mutation_p.E856K	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	963	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	p.K962N(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TTTGTTCCTTCTTTTCCAGCT	0.632000														50			34		0	0	1	0	0
SCLY	51540	broad.mit.edu	37	2	238973090	238973090	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:238973090C>T	uc010fyv.3	+	1	313	c.182C>T	c.(181-183)cCc>cTc	p.P61L	SCLY_uc002vxm.4_Missense_Mutation_p.P28L|SCLY_uc010znr.2_Missense_Mutation_p.P61L|SCLY_uc010znq.2_Missense_Mutation_p.P61L	NM_016510	NP_057594	Q96I15	SCLY_HUMAN	Homo sapiens selenocysteine lyase (SCLY), mRNA.	61					cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		TGGGGAAATCCCAGCAGCCCG	0.507000														21			9		0	0	1	0	0
TRPV3	162514	broad.mit.edu	37	17	3432136	3432136	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:3432136C>T	uc002fvr.2	-	9	1718	c.1396G>A	c.(1396-1398)Gag>Aag	p.E466K	TRPV3_uc002fvs.1_Non-coding_Transcript|TRPV3_uc010vrh.1_Missense_Mutation_p.E450K|TRPV3_uc010vri.1_Missense_Mutation_p.E421K|TRPV3_uc010vrk.1_Non-coding_Transcript|TRPV3_uc002fvt.1_Missense_Mutation_p.E466K|TRPV3_uc010vrj.1_Missense_Mutation_p.E450K|TRPV3_uc010vrm.1_Non-coding_Transcript|TRPV3_uc010vrl.1_Missense_Mutation_p.E450K|TRPV3_uc002fvu.3_Missense_Mutation_p.E466K|TRPV3_uc010vrn.1_Missense_Mutation_p.E48K	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 3 (TRPV3), mRNA.	466						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	CGTACCTCCTCCTCCCGGGGG	0.577000														28			10		0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599171	136599171	+	Missense_Mutation	SNP	C	T	T	rs145724464		TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:136599171C>T	uc003qgx.1	-	3	1101	c.848G>A	c.(847-849)cGa>cAa	p.R283Q	BCLAF1_uc003qgy.1_Missense_Mutation_p.R281Q|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.R281Q|BCLAF1_uc003qgw.1_Missense_Mutation_p.R283Q	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	283					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			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)		AGGACTGTATCGACTAGATCC	0.443000														27			8		0	0	1	0	0
LDLR	3949	broad.mit.edu	37	19	11233876	11233876	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:11233876G>A	uc002mqk.4	+	14	2354	c.2167G>A	c.(2167-2169)Gag>Aag	p.E723K	LDLR_uc010xlk.2_Missense_Mutation_p.E723K|LDLR_uc010xll.2_Missense_Mutation_p.E682K|LDLR_uc021upc.1_Missense_Mutation_p.E602K|LDLR_uc010xln.2_Missense_Mutation_p.E545K|LDLR_uc010xlo.2_Missense_Mutation_p.E555K|LDLR_uc010xlm.2_Missense_Mutation_p.E576K|LDLR_uc021upd.1_Missense_Mutation_p.E460K	NM_000527	NP_000518	P01130	LDLR_HUMAN	Homo sapiens low density lipoprotein receptor (LDLR), transcript variant 1, mRNA.	723	Clustered O-linked oligosaccharides.				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity			breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	GGCCACCCAGGAGACATCCAC	0.592000														64			27		0	0	1	0	0
PPP1R15A	23645	broad.mit.edu	37	19	49376623	49376623	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:49376623T>C	uc002pky.4	+	1	402	c.133T>C	c.(133-135)Tgg>Cgg	p.W45R		NM_014330	NP_055145	O75807	PR15A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 15A (PPP1R15A), mRNA.	45	Required for localization in the endoplasmic reticulum.				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		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)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		TCTAGAGCCCTGGCTGGTGGA	0.647000														34			13		0	0	1	0	0
POU4F2	5458	broad.mit.edu	37	4	147561695	147561695	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:147561695G>A	uc003ikv.3	+	1	1213	c.965G>A	c.(964-966)tGg>tAg	p.W322*		NM_004575	NP_004566	Q12837	PO4F2_HUMAN	Homo sapiens POU class 4 homeobox 2 (POU4F2), mRNA.	322	POU-specific.				MAPKKK cascade|estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					CTGCAGGCATGGCTCGAGGAG	0.607000														58			25		0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19032984	19032984	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:19032984C>T	uc002dfp.2	+	3	624	c.494C>T	c.(493-495)tCc>tTc	p.S165F	TMC7_uc010vao.1_Missense_Mutation_p.S165F|TMC7_uc002dfq.3_Missense_Mutation_p.S165F|TMC7_uc010vap.2_Missense_Mutation_p.S55F	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA.	165						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						TCCTATTTCTCCTTCTTGAGA	0.408000														43			27		0	0	1	0	0
ACSM4	341392	broad.mit.edu	37	12	7457016	7457016	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:7457016G>A	uc001qsx.1	+	0	89	c.89G>A	c.(88-90)tGg>tAg	p.W30*		NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA.	30					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	p.L29I(1)		endometrium(6)|kidney(1)|lung(14)	21						CACCAGCTTTGGACGCCTCTG	0.483000														120			38		0	0	1	0	0
NSUN7	79730	broad.mit.edu	37	4	40778120	40778120	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:40778120G>A	uc003gvj.4	+	6	1375	c.880G>A	c.(880-882)Gat>Aat	p.D294N	NSUN7_uc003gvi.4_Missense_Mutation_p.D294N	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						AAATATGGATGATGATGTCTT	0.343000														55			16		0	0	1	0	0
ENGASE	64772	broad.mit.edu	37	17	77073515	77073515	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:77073515C>T	uc002jwv.3	+	1	158	c.150C>T	c.(148-150)atC>atT	p.I50I	ENGASE_uc002jwu.1_Silent_p.I50I|ENGASE_uc010wtz.1_5'UTR|ENGASE_uc002jww.3_5'Flank	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN	Homo sapiens endo-beta-N-acetylglucosaminidase (ENGASE), mRNA.	50						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity	p.I50F(1)		breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						TGCTTAGCATCAAAGATGAAG	0.423000														42			8		0	0	1	0	0
NUP153	9972	broad.mit.edu	37	6	17637606	17637606	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:17637606G>A	uc003ncd.1	-	15	2442	c.2242C>T	c.(2242-2244)Ccg>Tcg	p.P748S	NUP153_uc011dje.1_Missense_Mutation_p.P779S|NUP153_uc010jpl.1_Missense_Mutation_p.P706S	NM_005124	NP_005115	P49790	NU153_HUMAN	Homo sapiens nucleoporin 153kDa (NUP153), mRNA.	748					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	p.P748P(2)		NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			CCAGGTTTCGGTGTTTCACAG	0.433000														165			36		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70896075	70896075	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:70896075C>T	uc002ezr.3	-	68	11801	c.11650G>A	c.(11650-11652)Ggt>Agt	p.G3884S	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.	3885										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)				TGTGGGGAACCCTCGGCCCAG	0.557000														23			3		0	0	1	0	0
XPR1	9213	broad.mit.edu	37	1	180756944	180756944	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:180756944C>T	uc001goi.3	+	2	369	c.177C>T	c.(175-177)ttC>ttT	p.F59F	XPR1_uc009wxm.2_Silent_p.F59F|XPR1_uc009wxn.3_Silent_p.F59F	NM_004736	NP_004727	Q9UBH6	XPR1_HUMAN	Homo sapiens xenotropic and polytropic retrovirus receptor 1 (XPR1), transcript variant 1, mRNA.	59	SPX.					integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						AGAAGTTTTTCCAAACCTGTG	0.343000														88			22		0	0	1	0	0
GNAZ	2781	broad.mit.edu	37	22	23438221	23438221	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:23438221C>T	uc002zwu.1	+	1	876	c.339C>T	c.(337-339)ccC>ccT	p.P113P	RTDR1_uc002zwt.3_Intron	NM_002073	NP_002064	P19086	GNAZ_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha z polypeptide (GNAZ), mRNA.	113						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.G112V(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)		TGACGGGCCCCGCTGAGAGCA	0.692000														128			24		0	0	1	0	0
STOML1	9399	broad.mit.edu	37	15	74284463	74284463	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:74284463G>A	uc002awe.3	-	0	173	c.102C>T	c.(100-102)tcC>tcT	p.S34S	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.S34S|STOML1_uc010bje.3_Silent_p.S34S|STOML1_uc010uld.2_5'UTR|STOML1_uc002awh.3_Silent_p.S34S|STOML1_uc002awg.3_Silent_p.S34S	NM_004809	NP_004800	Q9UBI4	STML1_HUMAN	Homo sapiens stomatin (EPB72)-like 1 (STOML1), mRNA.	34						integral to membrane	sterol binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						CCCGCTCCGGGGACAAGCAGC	0.726000														48			8		0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28250509	28250509	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:28250509C>T	uc009xky.3	-	9	1472	c.1374G>A	c.(1372-1374)gtG>gtA	p.V458V	ARMC4_uc010qds.2_5'UTR|ARMC4_uc010qdt.2_Silent_p.V150V|ARMC4_uc001itz.3_Silent_p.V458V|ARMC4_uc010qdu.1_Silent_p.V150V	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	458							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TTAAATATTTCACCAGCTTCT	0.378000														33			5		0	0	1	0	0
URM1	81605	broad.mit.edu	37	9	131150102	131150102	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:131150102C>T	uc011may.1	+	2	176	c.114C>T	c.(112-114)atC>atT	p.I38I	URM1_uc004buv.2_Silent_p.I38I	NM_001135947	NP_001129419	Q9BTM9	URM1_HUMAN	Homo sapiens ubiquitin related modifier 1 (URM1), transcript variant 2, mRNA.	38					tRNA thio-modification|tRNA wobble uridine modification		protein binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	5						CAGGGGACATCCGGAACCTGC	0.532000														51			58		0	0	1	0	0
FAM3C	10447	broad.mit.edu	37	7	120991240	120991240	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:120991240A>T	uc003vjx.3	-	8	799	c.551T>A	c.(550-552)tTc>tAc	p.F184Y	FAM3C_uc010lkm.3_Missense_Mutation_p.F184Y	NM_014888	NP_055703	Q92520	FAM3C_HUMAN	Homo sapiens family with sequence similarity 3, member C (FAM3C), transcript variant 1, mRNA.	184					multicellular organismal development	cytoplasmic membrane-bounded vesicle|extracellular region	cytokine activity			kidney(1)|lung(8)	9	all_neural(327;0.117)					CCCACCACAGAAGACCCAGTT	0.423000														49			24		0	0	1	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50405653	50405654	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:50405653_50405654CC>TT	uc003daq.3	-	24	2117_2118	c.2079_2080GG>AA	c.(2077-2082)aaggac>aaAAac	p.D694N	CACNA2D2_uc003dap.3_Missense_Mutation_p.D687N	NM_001174051	NP_001167522	Q9NY47	CA2D2_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 2 (CACNA2D2), transcript variant 3, mRNA.	694					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	GCATTCAGGTCCTTGCAGTACT	0.554000														55			41		0	0	1	0	0
WSB2	55884	broad.mit.edu	37	12	118474166	118474166	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:118474166G>A	uc001twr.2	-	5	908	c.810C>T	c.(808-810)acC>acT	p.T270T	WSB2_uc010sza.1_Silent_p.T45T|WSB2_uc010szb.1_Silent_p.T60T|WSB2_uc009zws.1_Silent_p.T270T	NM_018639	NP_061109	Q9NYS7	WSB2_HUMAN	Homo sapiens WD repeat and SOCS box containing 2 (WSB2), mRNA.	270					intracellular signal transduction			p.T270I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCCTTTCGCCGGTGTAGGGGT	0.517000														163			4		0	0	1	0	0
S100A12	6283	broad.mit.edu	37	1	153347001	153347001	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:153347001C>T	uc001fbr.1	-	1	136	c.68G>A	c.(67-69)gGg>gAg	p.G23E		NM_005621	NP_005612	P80511	S10AC_HUMAN	Homo sapiens S100 calcium binding protein A12 (S100A12), mRNA.	23	EF-hand 1.				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)	GTCAAAATGCCCCTTCCGAAC	0.463000														93			24		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10091776	10091776	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:10091776C>T	uc002mmq.1	-	32	2579	c.2493G>A	c.(2491-2493)gaG>gaA	p.E831E		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	831	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)			GTGGTCCCCGCTCTCCTTCCA	0.527000														34			13		0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119739211	119739211	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:119739211C>T	uc002tln.1	+	9	1012	c.880C>T	c.(880-882)Cct>Tct	p.P294S	MARCO_uc010yyf.1_Missense_Mutation_p.P216S	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	294	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GGCTGGTTTTCCTGGAGCTAA	0.443000														12			33		0	0	1	0	0
VAV2	7410	broad.mit.edu	37	9	136654407	136654407	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:136654407G>A	uc004ces.3	-	13	1293	c.1247C>T	c.(1246-1248)tCc>tTc	p.S416F	VAV2_uc004cer.3_Missense_Mutation_p.S411F|VAV2_uc004cet.1_5'UTR	NM_001134398	NP_001127870	P52735	VAV2_HUMAN	Homo sapiens vav 2 guanine nucleotide exchange factor (VAV2), transcript variant 1, mRNA.	416	PH.				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)		GTTGACTATGGACCGGACTTT	0.622000														72			85		0	0	1	0	0
CRISP2	7180	broad.mit.edu	37	6	49666204	49666204	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:49666204C>T	uc003ozn.2	-	6	524	c.288G>A	c.(286-288)gaG>gaA	p.E96E	CRISP2_uc003ozr.2_Silent_p.E96E|CRISP2_uc003ozo.2_Silent_p.E96E|CRISP2_uc003ozm.2_Silent_p.E96E|CRISP2_uc003ozp.2_Silent_p.E96E|CRISP2_uc003ozq.2_Silent_p.E96E|CRISP2_uc003ozl.2_Silent_p.E96E	NM_001142417	NP_003287	P16562	CRIS2_HUMAN	Homo sapiens cysteine-rich secretory protein 2 (CRISP2), transcript variant 4, mRNA.	96						extracellular space				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TATAGAGATTCTCACCACATC	0.408000														62			21		0	0	1	0	0
DACT1	51339	broad.mit.edu	37	14	59113049	59113049	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:59113049C>T	uc001xdw.3	+	3	1872	c.1708C>T	c.(1708-1710)Cac>Tac	p.H570Y	DACT1_uc010trv.2_Missense_Mutation_p.H289Y|DACT1_uc001xdx.3_Missense_Mutation_p.H533Y|DACT1_uc010trw.2_Missense_Mutation_p.H289Y	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	Homo sapiens dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis) (DACT1), transcript variant 1, mRNA.	570					Wnt receptor signaling pathway|multicellular organismal development	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						TGTCAGGCTCCACCGGGGCCA	0.647000														19			7		0	0	1	0	0
CCNT2	905	broad.mit.edu	37	2	135712018	135712018	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:135712018C>T	uc002tuc.2	+	8	2026	c.1993C>T	c.(1993-1995)Ccc>Tcc	p.P665S	CCNT2_uc010zbf.2_Intron|CCNT2_uc002tub.2_Intron|CCNT2_uc002tud.2_Missense_Mutation_p.P328S	NM_058241	NP_490595	O60583	CCNT2_HUMAN	Homo sapiens cyclin T2 (CCNT2), transcript variant b, mRNA.	665	Poly-Pro.				cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein kinase binding			endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		TTTTAACCATCCCTTACCCCC	0.483000														19			38		0	0	1	0	0
SYK	6850	broad.mit.edu	37	9	93641166	93641166	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:93641166C>T	uc004aqz.3	+	10	1717	c.1512C>T	c.(1510-1512)acC>acT	p.T504T	SYK_uc004ara.3_Silent_p.T481T|SYK_uc004arb.3_Silent_p.T481T|SYK_uc004arc.3_Silent_p.T504T|SYK_uc011ltt.2_Non-coding_Transcript|SYK_uc011ltr.2_Non-coding_Transcript|SYK_uc011lts.2_Non-coding_Transcript	NM_003177	NP_003168	P43405	KSYK_HUMAN	Homo sapiens spleen tyrosine kinase (SYK), transcript variant 1, mRNA.	504	Protein kinase.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	T cell receptor complex|cytosol	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						TGCTAGTTACCCAACATTACG	0.428000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""									72			27		0	0	1	0	0
ANGPT2	285	broad.mit.edu	37	8	6378740	6378740	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:6378740T>A	uc003wqj.4	-	3	1087	c.758A>T	c.(757-759)gAg>gTg	p.E253V	MCPH1_uc003wqi.3_Intron|ANGPT2_uc003wqk.4_Missense_Mutation_p.E253V|ANGPT2_uc010lri.3_Missense_Mutation_p.E201V|ANGPT2_uc003wql.4_Missense_Mutation_p.E253V	NM_001147	NP_001138	O15123	ANGP2_HUMAN	Homo sapiens angiopoietin 2 (ANGPT2), transcript variant 1, mRNA.	253					Tie receptor signaling pathway|angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis	extracellular space	metal ion binding|receptor tyrosine kinase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		ATTAACTGTCTCCATGAGATC	0.348000														46			10		0	0	1	0	0
CDX4	1046	broad.mit.edu	37	X	72673455	72673455	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:72673455G>A	uc011mqk.2	+	1	605	c.605G>A	c.(604-606)aGa>aAa	p.R202K		NM_005193	NP_005184	O14627	CDX4_HUMAN	Homo sapiens caudal type homeobox 4 (CDX4), mRNA.	202						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					ACCATCCAGAGAAAATCAGAG	0.398000														5			10		0	0	1	0	0
GPR171	29909	broad.mit.edu	37	3	150917098	150917098	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:150917098G>A	uc003eyq.4	-	2	316	c.76C>T	c.(76-78)Ctt>Ttt	p.L26F	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron|GPR171_uc021xfy.1_Missense_Mutation_p.L26F	NM_013308	NP_037440	O14626	GP171_HUMAN	Homo sapiens G protein-coupled receptor 171 (GPR171), mRNA.	26						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.L26F(2)		endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATTCCAACAAGGAAAACTAAA	0.368000														49			17		0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32639034	32639034	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr21:32639034G>A	uc002yow.1	-	4	727	c.255C>T	c.(253-255)ttC>ttT	p.F85F	TIAM1_uc011adk.1_Silent_p.F85F|TIAM1_uc011adl.1_Silent_p.F85F|TIAM1_uc002yox.1_Intron	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	85					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TGGGGCTCCCGAAGTCTTCTA	0.592000														62			15		0	0	1	0	0
RXRB	6257	broad.mit.edu	37	6	33163700	33163700	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:33163700G>A	uc003odb.3	-	5	1286	c.1107C>T	c.(1105-1107)gtC>gtT	p.V369V	RXRB_uc003odc.3_Silent_p.V369V|RXRB_uc011dqr.2_Silent_p.V179V|RXRB_uc011dqs.1_Silent_p.V252V|RXRB_uc003ode.1_3'UTR|RXRB_uc011dqt.1_3'UTR|RXRB_uc011dqu.1_3'UTR	NM_021976	NP_068811	P28702	RXRB_HUMAN	Homo sapiens retinoid X receptor, beta (RXRB), mRNA.	369	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	GCAGCAATATGACCTGATCAT	0.507000														22			17		0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57647019	57647019	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:57647019C>T	uc002qnz.1	-	4	1072	c.686G>A	c.(685-687)gGa>gAa	p.G229E		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.	229					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTAGGCATTTCCACAGTTCTC	0.418000														56			22		0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157494248	157494248	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:157494248G>A	uc009wsm.3	-	9	2218	c.2060C>T	c.(2059-2061)tCc>tTc	p.S687F	FCRL5_uc001fqu.3_Missense_Mutation_p.S687F|FCRL5_uc010phv.1_Missense_Mutation_p.S687F|FCRL5_uc010phw.1_Missense_Mutation_p.S602F	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	687	Ig-like C2-type 7.		S -> C (in a breast cancer sample; somatic mutation).			integral to membrane|plasma membrane	receptor activity	p.S687C(2)		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)				CAGGATTGGGGAGGAGCCTCT	0.582000														34			30		0	0	1	0	0
NTRK2	4915	broad.mit.edu	37	9	87570348	87570348	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:87570348G>A	uc004aoa.1	+	17	2978	c.2040G>A	c.(2038-2040)agG>agA	p.R680R	NTRK2_uc004any.1_Silent_p.R680R|NTRK2_uc004anz.1_Silent_p.R696R	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 2 (NTRK2), transcript variant c, mRNA.	680	Protein kinase.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						TGGCCACCAGGAACTGCCTGG	0.592000										TSP Lung(25;0.17)				22			11		0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15733008	15733008	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:15733008G>A	uc001rcv.2	+	20	3426	c.2956G>A	c.(2956-2958)Gaa>Aaa	p.E986K	PTPRO_uc001rcw.2_Missense_Mutation_p.E958K|PTPRO_uc001rcx.2_Missense_Mutation_p.E175K|PTPRO_uc001rcy.2_Missense_Mutation_p.E175K|PTPRO_uc001rcz.2_Missense_Mutation_p.E147K|PTPRO_uc001rda.2_Missense_Mutation_p.E147K	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA.	986	Tyrosine-protein phosphatase.					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)				CTCCATGAATGAAGAGGAAGG	0.373000														31			13		0	0	1	0	0
ADARB2	105	broad.mit.edu	37	10	1230938	1230938	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:1230938G>A	uc009xhq.3	-	8	2232	c.1906C>T	c.(1906-1908)Ccc>Tcc	p.P636S	ADARB2_uc001igj.2_Missense_Mutation_p.P20S|ADARB2_uc001igl.4_5'UTR|ADARB2_uc001igm.4_Missense_Mutation_p.P145S	NM_018702	NP_061172	Q9NS39	RED2_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA.	636	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		ATGCTGAAGGGGGGCGACTTC	0.677000														21			6		0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92136196	92136196	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:92136196G>A	uc001xzs.1	-	13	1389	c.1249C>T	c.(1249-1251)Cat>Tat	p.H417Y	CATSPERB_uc010aub.1_5'UTR	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	417					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		p.H417Y(2)		NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				CTTCGGGGATGAAATACCATT	0.408000														11			24		0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66441132	66441133	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:66441132_66441133CC>TT	uc021xzk.1	+	22	3327_3328	c.3019_3020CC>TT	c.(3019-3021)cct>TTt	p.P1007F	MAST4_uc003jut.2_Missense_Mutation_p.P818F|MAST4_uc003juu.1_Missense_Mutation_p.P828F|MAST4_uc011cra.1_Missense_Mutation_p.P801F|MAST4_uc003juv.2_Missense_Mutation_p.P813F|MAST4_uc003juw.3_Missense_Mutation_p.P813F	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	1010						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)		GCCAGCCCTTCCTCCTGAAGAG	0.609000														29			6		0	0	1	0	0
OR2A5	393046	broad.mit.edu	37	7	143747706	143747706	+	Missense_Mutation	SNP	C	T	T	rs149614119	by1000genomes	TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:143747706C>T	uc011ktw.2	+	0	212	c.212C>T	c.(211-213)tCg>tTg	p.S71L		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA.	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S71L(2)		cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					ATTGATATTTCGTATGCTTCC	0.483000														86			17		0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40055851	40055851	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:40055851G>A	uc003ayc.3	+	13	2598	c.2598G>A	c.(2596-2598)caG>caA	p.Q866Q	CACNA1I_uc003ayd.3_Silent_p.Q831Q|CACNA1I_uc003aye.3_Silent_p.Q781Q|CACNA1I_uc003ayf.3_Silent_p.Q746Q	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	866					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	AGGGCTTCCAGGCGGAGGTGA	0.617000														50			17		0	0	1	0	0
PTGES	9536	broad.mit.edu	37	9	132510994	132510994	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:132510994G>A	uc004byi.3	-	1	202	c.149C>T	c.(148-150)gCc>gTc	p.A50V	PTGES_uc010myy.3_Non-coding_Transcript	NM_004878	NP_004869	O14684	PTGES_HUMAN	Homo sapiens prostaglandin E synthase (PTGES), mRNA.	50					prostaglandin biosynthetic process|signal transduction	integral to membrane|membrane fraction	glutathione binding|prostaglandin-E synthase activity			lung(1)|skin(1)	2		Ovarian(14;0.00556)				GTGTCTCAGGGCATCCTCGGG	0.602000														25			12		0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94578550	94578550	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:94578550G>A	uc001dqh.3	-	1	243	c.139C>T	c.(139-141)Cca>Tca	p.P47S	ABCA4_uc010otn.1_Missense_Mutation_p.P47S	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	47					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CTGTAGAGTGGGTTGGCATTC	0.448000														43			33		0	0	1	0	0
KRT80	144501	broad.mit.edu	37	12	52574367	52574367	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:52574367C>T	uc001rzw.3	-	1	752	c.701G>A	c.(700-702)cGg>cAg	p.R234Q	KRT80_uc001rzy.3_Missense_Mutation_p.R199Q|KRT80_uc001rzx.3_Missense_Mutation_p.R199Q	NM_182507	NP_872313	Q6KB66	K2C80_HUMAN	Homo sapiens keratin 80 (KRT80), transcript variant 1, mRNA.	199	Linker 12.|Rod.					keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		CAGTTCAGTCCGATGAAGACA	0.567000														86			25		0	0	1	0	0
WNT4	54361	broad.mit.edu	37	1	22446990	22446990	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:22446990C>T	uc001bfs.4	-	4	713	c.609G>A	c.(607-609)cgG>cgA	p.R203R	WNT4_uc010odt.2_Silent_p.R140R	NM_030761	NP_110388	P56705	WNT4_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 4 (WNT4), mRNA.	203					Wnt receptor signaling pathway, calcium modulating pathway|adrenal gland development|androgen biosynthetic process|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|dermatome development|endoderm development|epithelial to mesenchymal transition|establishment of protein localization in plasma membrane|female gonad development|female sex determination|liver development|male gonad development|mesonephric tubule development|metanephric mesenchymal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of male gonad development|negative regulation of testicular blood vessel morphogenesis|negative regulation of testosterone biosynthetic process|negative regulation of transcription, DNA-dependent|oocyte development|paramesonephric duct development|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of collagen biosynthetic process|positive regulation of cortisol biosynthetic process|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|protein palmitoylation|renal vesicle formation|smooth muscle cell differentiation|somatotropin secreting cell differentiation|tertiary branching involved in mammary gland duct morphogenesis|thyroid-stimulating hormone-secreting cell differentiation	Golgi apparatus|cell surface|extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|signal transducer activity|transcription corepressor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	8		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		TGCATTCCACCCGCATGTGTG	0.662000														20			13		0	0	1	0	0
C10orf90	118611	broad.mit.edu	37	10	128193397	128193397	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:128193397G>A	uc010qum.2	-	3	693	c.663C>T	c.(661-663)ccC>ccT	p.P221P	C10orf90_uc001ljp.3_Silent_p.P77P|C10orf90_uc001ljq.3_Silent_p.P124P|C10orf90_uc009yao.2_Silent_p.P221P|C10orf90_uc001ljs.1_Silent_p.P77P	NM_001004298	NP_001004298	Q96M02	CJ090_HUMAN	Homo sapiens chromosome 10 open reading frame 90 (C10orf90), mRNA.	124								p.R220H(1)|p.R220G(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		TCTCCTCTTTGGGCGGCAGCT	0.647000											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		59			15		0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19020694	19020694	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:19020694C>T	uc002dfp.2	+	1	398	c.268C>T	c.(268-270)Ctt>Ttt	p.L90F	TMC7_uc010vao.1_Missense_Mutation_p.L90F|TMC7_uc002dfq.3_Missense_Mutation_p.L90F|TMC7_uc010vap.2_5'UTR	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA.	90						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						CAGCCATTCTCTTCGAAATTA	0.493000														39			37		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2702491	2702491	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:2702491C>T	uc009zdu.1	+	18	2956	c.2643C>T	c.(2641-2643)ttC>ttT	p.F881F	CACNA1C_uc001qkc.2_Silent_p.F881F|CACNA1C_uc001qjz.2_Silent_p.F881F|CACNA1C_uc001qkd.2_Silent_p.F881F|CACNA1C_uc001qke.2_Silent_p.F881F|CACNA1C_uc001qkf.2_Silent_p.F881F|CACNA1C_uc009zdw.1_Silent_p.F881F|CACNA1C_uc001qkg.2_Silent_p.F881F|CACNA1C_uc001qkh.2_Silent_p.F881F|CACNA1C_uc001qkl.2_Silent_p.F881F|CACNA1C_uc001qkj.2_Silent_p.F881F|CACNA1C_uc001qkk.2_Silent_p.F881F|CACNA1C_uc001qkn.2_Silent_p.F881F|CACNA1C_uc001qkm.2_Silent_p.F881F|CACNA1C_uc001qko.2_Silent_p.F881F|CACNA1C_uc001qkp.2_Silent_p.F881F|CACNA1C_uc001qkq.2_Silent_p.F881F|CACNA1C_uc001qku.2_Silent_p.F881F|CACNA1C_uc001qkr.2_Silent_p.F881F|CACNA1C_uc001qks.2_Silent_p.F881F|CACNA1C_uc001qkt.2_Silent_p.F881F|CACNA1C_uc009zdv.1_Silent_p.F878F|CACNA1C_uc001qkb.2_Silent_p.F881F|CACNA1C_uc001qka.1_Silent_p.F416F|CACNA1C_uc001qki.1_Silent_p.F617F	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	881					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)	GCGCGTTTTTCATCTTCAGCT	0.557000														16			4		0	0	1	0	0
AK7	122481	broad.mit.edu	37	14	96917772	96917772	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:96917772C>T	uc001yfn.2	+	9	1007	c.963C>T	c.(961-963)gaC>gaT	p.D321D		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	Homo sapiens adenylate kinase 7 (AK7), mRNA.	321					cell projection organization	cytosol	ATP binding|adenylate kinase activity|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		ATTGTCTTGACCATTTACTGG	0.343000														25			8		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140236032	140236032	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:140236032C>T	uc003lhx.2	+	0	399	c.399C>T	c.(397-399)tcC>tcT	p.S133S	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_Silent_p.S133S|PCDHAC2_uc011dad.2_Silent_p.S133S	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	149	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.S132S(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)			CCAGGTTCTCCGTAACAGAAC	0.522000														147			4		0	0	1	0	0
ADCY6	112	broad.mit.edu	37	12	49168221	49168221	+	Silent	SNP	G	A	A	rs115957272	by1000genomes	TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:49168221G>A	uc001rsh.4	-	12	2907	c.2247C>T	c.(2245-2247)tcC>tcT	p.S749S	ADCY6_uc001rsi.4_Silent_p.S749S|ADCY6_uc001rsj.4_Silent_p.S749S|ADCY6_uc010slw.1_5'UTR|MIR4701_uc021qxl.1_5'Flank	NM_015270	NP_056085	O43306	ADCY6_HUMAN	Homo sapiens adenylate cyclase 6 (ADCY6), transcript variant 1, mRNA.	749					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	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						CAAGCAGGACGGAAAAGATGC	0.557000														28			19		0	0	1	0	0
NCAM1	4684	broad.mit.edu	37	11	113075216	113075216	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:113075216G>A	uc021qqp.1	+	2	702	c.330G>A	c.(328-330)gtG>gtA	p.V110V	NCAM1_uc001pno.3_5'UTR|NCAM1_uc001pnp.3_Silent_p.V110V|NCAM1_uc021qqo.1_Silent_p.V110V|NCAM1_uc001pnq.3_Silent_p.V110V|NCAM1_uc001pnr.3_Silent_p.V110V	NM_001242607	NP_001229536	P13591	NCAM1_HUMAN	Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 5, mRNA.	112	Ig-like C2-type 1.				axon guidance|interferon-gamma-mediated signaling pathway	Golgi membrane|anchored to membrane|extracellular region|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CCGTCAACGTGAAGATCTTTC	0.522000														11			9		0	0	1	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161167986	161167986	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:161167986C>T	uc001fyt.4	-	0	860	c.432G>A	c.(430-432)tgG>tgA	p.W144*	ADAMTS4_uc001fyu.2_Nonsense_Mutation_p.W144*|NDUFS2_uc001fyv.3_5'Flank	NM_005099	NP_005090	O75173	ATS4_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 4 (ADAMTS4), mRNA.	144					proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CTCCCCCATCCCAGTGCAGAG	0.647000														64			32		0	0	1	0	0
TAB1	10454	broad.mit.edu	37	22	39773604	39773604	+	Splice_Site	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:39773604G>A	uc003axs.4	+	4	512	c.487_splice	c.e4-1	p.S163_splice	TAB1_uc003axo.4_Splice_Site_p.S162_splice|TAB1_uc003axq.4_Intron|TAB1_uc003axr.3_Intron	NM_145738	NP_663791	Q15750	TAB1_HUMAN	Homo sapiens synaptogyrin 1 (SYNGR1), transcript variant 1c, mRNA.	0	PP2C-like.				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|activation of MAPKKK activity|innate immune response|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						TCCTGGCAGAGCCTGACCGCA	0.662000														17			12		0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50720702	50720702	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:50720702G>A	uc003bkv.4	-	18	3121	c.3028C>T	c.(3028-3030)Ctg>Ttg	p.L1010L	PLXNB2_uc003bkt.1_5'Flank|PLXNB2_uc003bku.1_5'UTR	NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	1010	IPT/TIG 3.				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)		CTCTGGATCAGGCTGAAGCCC	0.687000														94			18		0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6700880	6700880	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:6700880G>A	uc001qpo.3	-	20	3366	c.3202C>T	c.(3202-3204)Cgt>Tgt	p.R1068C	CHD4_uc001qpn.3_Missense_Mutation_p.R1061C|CHD4_uc001qpp.3_Missense_Mutation_p.R1065C	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	1068	Helicase C-terminal.				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						ATGAGTACACGATGCCCACCC	0.468000														65			17		0	0	1	0	0
PARVG	64098	broad.mit.edu	37	22	44586492	44586492	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:44586492C>T	uc011aqe.2	+	6	874	c.450C>T	c.(448-450)ttC>ttT	p.F150F	PARVG_uc003bep.3_Silent_p.F150F|PARVG_uc011aqf.2_Silent_p.F150F|PARVG_uc021wrc.1_Non-coding_Transcript	NM_001137605	NP_071424	Q9HBI0	PARVG_HUMAN	Homo sapiens parvin, gamma (PARVG), transcript variant 2, mRNA.	150	CH 1.				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				CCAAGCGCTTCCAGCCCGACC	0.602000														101			12		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196651890	196651890	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:196651890T>A	uc002utj.4	-	57	10823	c.10722A>T	c.(10720-10722)gaA>gaT	p.E3574D	DNAH7_uc002uti.4_Missense_Mutation_p.E57D	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3574	AAA 6 (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						ATTTCTTGAATTCCTCCTGTA	0.328000														17			24		0	0	1	0	0
OR2F1	26211	broad.mit.edu	37	7	143657606	143657606	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:143657606C>T	uc003wds.1	+	0	587	c.543C>T	c.(541-543)ctC>ctT	p.L181L		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA.	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L181L(2)|p.L181I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					CCTGTGAACTCCTAGCTGTGG	0.507000														54			27		0	0	1	0	0
C5orf51	285636	broad.mit.edu	37	5	41911244	41911244	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:41911244G>A	uc003jmo.3	+	3	449	c.449G>A	c.(448-450)aGa>aAa	p.R150K		NM_175921	NP_787117	A6NDU8	CE051_HUMAN	Homo sapiens chromosome 5 open reading frame 51 (C5orf51), mRNA.	150										endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						ACCAAAAGAAGAGAGTGGCTC	0.388000														30			13		0	0	1	0	0
HSPA14	51182	broad.mit.edu	37	10	14882145	14882146	+	Silent	DNP	CC	TT	TT			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:14882145_14882146CC>TT	uc001inf.3	+	2	351_352	c.210_211CC>TT	c.(208-213)atcctg>atTTtg	p.70_71IL>IL	CDNF_uc001inb.1_5'Flank|CDNF_uc010qbv.1_5'Flank|CDNF_uc001inc.1_5'Flank|HSPA14_uc001ind.3_5'UTR|HSPA14_uc001ine.3_Silent_p.70_71IL>IL|HSPA14_uc010qbw.2_Silent_p.70_71IL>IL	NM_016299	NP_057383	Q0VDF9	HSP7E_HUMAN	Homo sapiens heat shock 70kDa protein 14 (HSPA14), transcript variant 1, mRNA.	70					'de novo' cotranslational protein folding	cytosol	ATP binding|protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						TAAAGCAGATCCTGGGCAGAAG	0.262000														21			7		0	0	1	0	0
PLD5	200150	broad.mit.edu	37	1	242511543	242511543	+	Splice_Site	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:242511543G>A	uc001hzn.2	-	3	417	c.190_splice	c.e3-1	p.S64_splice	PLD5_uc021pll.1_Splice_Site|PLD5_uc001hzl.4_Splice_Site_p.S2_splice|PLD5_uc001hzm.4_Splice_Site|PLD5_uc001hzo.2_Splice_Site	NM_152666	NP_001182741	Q8N7P1	PLD5_HUMAN	Homo sapiens phospholipase D family, member 5 (PLD5), transcript variant 1, mRNA.	64						integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			CTTCTGCTGGGACTGAAAGAG	0.458000														9			28		0	0	1	0	0
OTOL1	131149	broad.mit.edu	37	3	161221247	161221247	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:161221247G>A	uc011bpb.2	+	3	951	c.951G>A	c.(949-951)ggG>ggA	p.G317G		NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN	Homo sapiens otolin 1 (OTOL1), mRNA.	317	Collagen-like 3.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						GCAACAAAGGGGTCCGAGGCC	0.577000														19			13		0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35627660	35627660	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:35627660G>A	uc002hnm.3	-	9	1181	c.990C>T	c.(988-990)ttC>ttT	p.F330F	ACACA_uc002hnk.3_Silent_p.F252F|ACACA_uc002hnl.3_Silent_p.F272F|ACACA_uc002hnn.3_Silent_p.F330F|ACACA_uc002hno.3_Silent_p.F367F|ACACA_uc010cuz.3_Silent_p.F330F	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	330	ATP-grasp.|Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	AGAGATTAGGGAAGTCATCTG	0.378000														50			26		0	0	1	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187698678	187698678	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:187698678G>A	uc002upu.1	-	5	863	c.823C>T	c.(823-825)Cgt>Tgt	p.R275C		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA.	275					apoptosis		zinc ion binding	p.R275C(4)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TGTACCTCACGAAATGTAAAC	0.363000														10			22		0	0	1	0	0
C17orf74	201243	broad.mit.edu	37	17	7330410	7330410	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:7330410C>T	uc002ggw.3	+	2	1173	c.1100C>T	c.(1099-1101)tCc>tTc	p.S367F	SPEM1_uc010vtw.1_Intron	NM_175734	NP_783861	Q0P670	CQ074_HUMAN	Homo sapiens chromosome 17 open reading frame 74 (C17orf74), mRNA.	367						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				CCCCACCCATCCACGGAACCC	0.697000														16			7		0	0	1	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713106	70713107	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:70713106_70713107GG>AA	uc010ttg.2	-	0	1412_1413	c.761_762CC>TT	c.(760-762)tcc>tTT	p.S254F						Homo sapiens ADAM metallopeptidase domain 21 pseudogene 1 (ADAM21P1), non-coding RNA.																		ACTGCTGTACGGATCCACAGTC	0.480000														14			12		0	0	1	0	0
DAB2	1601	broad.mit.edu	37	5	39390658	39390658	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:39390658G>A	uc003jlx.3	-	4	881	c.350C>T	c.(349-351)cCa>cTa	p.P117L	DAB2_uc003jlw.3_Missense_Mutation_p.P117L	NM_001343	NP_001334	P98082	DAB2_HUMAN	Homo sapiens disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila) (DAB2), transcript variant 1, mRNA.	117	PID.				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			CTTATTTACTGGATGTTCATG	0.388000														36			4		0	0	1	0	0
BCAR1	9564	broad.mit.edu	37	16	75269650	75269650	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:75269650G>A	uc002fdv.3	-	4	1293	c.1147C>T	c.(1147-1149)Ccg>Tcg	p.P383S	BCAR1_uc002fdt.3_5'UTR|BCAR1_uc002fdu.3_Missense_Mutation_p.P173S|BCAR1_uc010vna.2_Missense_Mutation_p.P381S|BCAR1_uc010cgu.3_Missense_Mutation_p.P401S|BCAR1_uc010vnb.2_Missense_Mutation_p.P429S|BCAR1_uc002fdw.3_Missense_Mutation_p.P383S|BCAR1_uc010vnc.2_Missense_Mutation_p.P235S|BCAR1_uc010vnd.2_Missense_Mutation_p.P401S|BCAR1_uc002fdx.3_Missense_Mutation_p.P401S	NM_014567	NP_055382	P56945	BCAR1_HUMAN	Homo sapiens breast cancer anti-estrogen resistance 1 (BCAR1), transcript variant 6, mRNA.	383	Substrate for kinases (By similarity).				B cell receptor signaling pathway|G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|actin filament organization|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth	cytosol|focal adhesion|membrane fraction|ruffle	SH3 domain binding|protein kinase binding|protein phosphatase binding|signal transducer activity			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		AGGGTGCCCGGGCCAGGCCGC	0.706000														2			15		0	0	1	0	0
SMR3A	26952	broad.mit.edu	37	4	71232491	71232491	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:71232491G>A	uc003hfg.1	+	2	266	c.185G>A	c.(184-186)aGa>aAa	p.R62K	SMR3A_uc011cas.2_Intron	NM_012390	NP_036522	Q99954	SMR3A_HUMAN	Homo sapiens submaxillary gland androgen regulated protein 3A (SMR3A), mRNA.	62	Pro-rich.					extracellular region		p.G61E(1)		endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				GGTCCAGGGAGATTTCCACCA	0.547000														128			4		0	0	1	0	0
DEFB115	245929	broad.mit.edu	37	20	29847349	29847349	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:29847349G>A	uc002wvp.1	+	1	181	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K		NM_001037730	NP_001032819	Q30KQ5	DB115_HUMAN	Homo sapiens defensin, beta 115 (DEFB115), mRNA.	61					defense response to bacterium	extracellular region		p.G60G(1)		kidney(1)|lung(3)|ovary(1)|skin(1)	6			Colorectal(19;0.00445)|COAD - Colon adenocarcinoma(19;0.0347)			AAAATGTGGGGAAAAACATAT	0.373000														35			14		0	0	1	0	0
ZNF41	7592	broad.mit.edu	37	X	47307369	47307369	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chrX:47307369G>A	uc004dhs.4	-	3	1993	c.1926C>T	c.(1924-1926)atC>atT	p.I642I	ZNF41_uc004dhu.4_Silent_p.I634I|ZNF41_uc004dht.4_Silent_p.I514I|ZNF41_uc004dhv.4_Silent_p.I610I|ZNF41_uc004dhw.4_Silent_p.I602I|ZNF41_uc004dhy.4_Silent_p.I600I|ZNF41_uc004dhx.4_Silent_p.I600I|ZNF41_uc011mlm.2_Silent_p.I514I	NM_153380	NP_700359	P51814	ZNF41_HUMAN	Homo sapiens zinc finger protein 41 (ZNF41), transcript variant 2, mRNA.	642						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				CTCCTGTATGGATTCTCTGAT	0.443000														11			25		0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66920894	66920894	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:66920894G>A	uc002jhq.3	-	10	1730	c.1390C>T	c.(1390-1392)Cat>Tat	p.H464Y	ABCA8_uc002jhp.3_Missense_Mutation_p.H464Y|ABCA8_uc010wqq.2_Missense_Mutation_p.H464Y|ABCA8_uc010wqr.2_Missense_Mutation_p.H403Y|ABCA8_uc002jhr.3_Missense_Mutation_p.H464Y	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	464						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AAAGAGTCATGAAATGAAGGA	0.458000														112			21		0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70257747	70257747	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:70257747C>T	uc001dep.3	+	1	241	c.211C>T	c.(211-213)Cta>Tta	p.L71L	LRRC7_uc001deo.1_Silent_p.L109L|LRRC7_uc009wbg.3_5'UTR	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	71						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						CTGTCAAGCTCTACGAAAACT	0.299000														59			17		0	0	1	0	0
OSBPL10	114884	broad.mit.edu	37	3	31871659	31871659	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:31871659G>A	uc021wuu.1	-	3	1273	c.602C>T	c.(601-603)tCt>tTt	p.S201F	OSBPL10_uc003ceu.1_5'UTR|OSBPL10_uc011axf.2_Intron	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN	Homo sapiens oxysterol binding protein-like 10 (OSBPL10), transcript variant 1, mRNA.	201					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		GCTACAGGGAGACGCAGAATT	0.547000														35			13		0	0	1	0	0
CEACAM5	1048	broad.mit.edu	37	19	42219167	42219167	+	Splice_Site	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:42219167C>T	uc002orl.3	+	3	824	c.703_splice	c.e3+1	p.Y235_splice	CEACAM5_uc010ehz.1_Silent_p.L234L|CEACAM5_uc002orj.1_Splice_Site_p.Y235_splice	NM_004363	NP_004354	P06731	CEAM5_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.	235	Ig-like 2.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TGAATGTCCTCTGTGAGTATA	0.512000														41			20		0	0	1	0	0
PLK1	5347	broad.mit.edu	37	16	23700962	23700962	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:23700962C>T	uc002dlz.1	+	8	1626	c.1573C>T	c.(1573-1575)Ctc>Ttc	p.L525F		NM_005030	NP_005021	P53350	PLK1_HUMAN	Homo sapiens polo-like kinase 1 (PLK1), mRNA.	525	POLO box 2.				G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	ATP binding|anaphase-promoting complex binding|polo kinase kinase activity|protein kinase binding	p.L525L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		CATCCTGCACCTCAGCAACGG	0.657000														26			3		0	0	1	0	0
FMNL2	114793	broad.mit.edu	37	2	153476151	153476151	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:153476151C>T	uc002tye.3	+	14	2123	c.1756C>T	c.(1756-1758)Ccc>Tcc	p.P586S	FMNL2_uc010fob.3_Missense_Mutation_p.P35S|FMNL2_uc002tyf.3_Missense_Mutation_p.P35S	NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	Homo sapiens formin-like 2 (FMNL2), mRNA.	586	Pro-rich.				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						ACCAGCTCCTCCCTTAGCACC	0.637000														5			14		0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92088211	92088211	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:92088211G>A	uc001xzs.1	-	18	2141	c.2001C>T	c.(1999-2001)ctC>ctT	p.L667L	CATSPERB_uc010aub.1_Silent_p.L189L	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	667					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)				TGCTTGTGATGAGGAAGCTGC	0.403000														23			9		0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	3681621	3681621	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:3681621G>A	uc003smx.3	+	3	736	c.597G>A	c.(595-597)agG>agA	p.R199R		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	199	Ig-like C2-type 2.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CGGACCAGAGGAAAACAGTTT	0.468000														38			14		0	0	1	0	0
SLC39A11	201266	broad.mit.edu	37	17	70943901	70943901	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:70943901G>A	uc002jjb.3	-	4	535	c.420C>T	c.(418-420)tcC>tcT	p.S140S	SLC39A11_uc002jja.3_Silent_p.S140S	NM_001159770	NP_001153242	Q8N1S5	S39AB_HUMAN	Homo sapiens solute carrier family 39 (metal ion transporter), member 11 (SLC39A11), transcript variant 1, mRNA.	140					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			endometrium(1)|large_intestine(4)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						CTATCCGGATGGAAAGTTCAC	0.552000														141			42		0	0	1	0	0
GAPVD1	26130	broad.mit.edu	37	9	128094858	128094858	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:128094858T>A	uc004bpp.3	+	12	2538	c.2378T>A	c.(2377-2379)tTt>tAt	p.F793Y	GAPVD1_uc011lzs.1_Missense_Mutation_p.F793Y|GAPVD1_uc004bpq.3_Missense_Mutation_p.F793Y|GAPVD1_uc010mwx.3_Missense_Mutation_p.F793Y|GAPVD1_uc004bpr.3_Missense_Mutation_p.F772Y|GAPVD1_uc004bps.3_Missense_Mutation_p.F793Y|GAPVD1_uc010mwy.1_Missense_Mutation_p.F652Y	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	Homo sapiens GTPase activating protein and VPS9 domains 1 (GAPVD1), mRNA.	793					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						AGCTCTGATTTTGGGGGTAAA	0.398000														49			15		0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81719615	81719615	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:81719615C>T	uc001szo.2	-	21	2744	c.2583G>A	c.(2581-2583)gaG>gaA	p.E861E	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Silent_p.E787E|PPFIA2_uc021rbh.1_Silent_p.E762E|PPFIA2_uc021rbi.1_Silent_p.E861E|PPFIA2_uc021rbj.1_Silent_p.E861E|PPFIA2_uc021rbk.1_Silent_p.E843E|PPFIA2_uc021rbl.1_Silent_p.E861E|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Silent_p.E428E|PPFIA2_uc021rbf.1_Silent_p.E78E	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.	787										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						ACCCCAGGGACTCCTGAGCTG	0.418000														19			18		0	0	1	0	0
ZP1	22917	broad.mit.edu	37	11	60637129	60637129	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:60637129C>T	uc001nqd.3	+	2	458	c.438C>T	c.(436-438)tcC>tcT	p.S146S	ZP1_uc001nqe.3_5'Flank	NM_207341	NP_997224	P60852	ZP1_HUMAN	Homo sapiens zona pellucida glycoprotein 1 (sperm receptor) (ZP1), mRNA.	146					single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CTCTGGACTCCCAGCTGGCAC	0.597000														25			9		0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167330398	167330398	+	Splice_Site	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:167330398G>A	uc002udu.2	-	4	484	c.354_splice	c.e4-1	p.P118_splice	SCN7A_uc010fpm.2_Splice_Site	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	118					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						GTTGGAAAAAGGTAGCTTATA	0.259000														19			10		0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43382152	43382152	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:43382152C>T	uc002ovd.1	-	1	481	c.343G>A	c.(343-345)Gag>Aag	p.E115K	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Missense_Mutation_p.E115K|PSG3_uc002oun.3_Non-coding_Transcript|PSG3_uc002ovc.3_Missense_Mutation_p.E115K|PSG3_uc002ova.2_Missense_Mutation_p.E115K|PSG3_uc002ouz.2_Missense_Mutation_p.E115K|PSG3_uc002ovb.3_Missense_Mutation_p.E115K	NM_006905	NP_008836	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA.	115	Ig-like V-type.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				CCTGCGTCCTCCCGGGTGACA	0.453000														135			61		0	0	1	0	0
CEP104	9731	broad.mit.edu	37	1	3755542	3755542	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:3755542G>A	uc001aky.2	-	7	1236	c.877C>T	c.(877-879)Ctg>Ttg	p.L293L	CEP104_uc010nzm.1_Non-coding_Transcript|CEP104_uc001akz.3_Silent_p.L293L	NM_014704	NP_055519	O60308	CE104_HUMAN	Homo sapiens centrosomal protein 104kDa (CEP104), mRNA.	293						centriole	binding			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						TCGGCATCCAGGAGGCTGTGC	0.562000														156			36		0	0	1	0	0
AGAP11	119385	broad.mit.edu	37	10	88769144	88769144	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:88769144C>T	uc001kee.2	+	11	2339	c.1135C>T	c.(1135-1137)Cgt>Tgt	p.R379C	AGAP11_uc001kef.3_Intron	NM_133447	NP_597704	Q8TF27	AGA11_HUMAN	Homo sapiens ankyrin repeat and GTPase domain Arf GTPase activating protein 11 (AGAP11), mRNA.	379	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										CCGCCTTTCCCGTGTGCGATC	0.527000														186			66		0	0	1	0	0
POU5F1B	5462	broad.mit.edu	37	8	128428581	128428581	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr8:128428581G>A	uc003ysf.3	+	0	725	c.470G>A	c.(469-471)aGg>aAg	p.R157K	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.	157	POU-specific.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|prostate(1)|urinary_tract(1)	3						AAGCAGAAGAGGATCACCCTG	0.527000														18			5		0	0	1	0	0
MRGPRF	116535	broad.mit.edu	37	11	68772760	68772760	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:68772760C>T	uc001ooo.4	-	2	1385	c.1018G>A	c.(1018-1020)Ggg>Agg	p.G340R	MRGPRF_uc001oop.4_Missense_Mutation_p.G340R	NM_001098515	NP_659452	Q96AM1	MRGRF_HUMAN	Homo sapiens MAS-related GPR, member F (MRGPRF), transcript variant 1, mRNA.	340						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|lung(4)	7			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GAGGCGTTCCCCGGGGGACAC	0.687000														1			3		0	0	1	0	0
VAV2	7410	broad.mit.edu	37	9	136857249	136857249	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:136857249G>A	uc004ces.3	-	0	198	c.152C>T	c.(151-153)tCc>tTc	p.S51F	VAV2_uc004cer.3_Missense_Mutation_p.S51F	NM_001134398	NP_001127870	P52735	VAV2_HUMAN	Homo sapiens vav 2 guanine nucleotide exchange factor (VAV2), transcript variant 1, mRNA.	51	CH.				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)		GGAGCCGGGGGAGAGGTTGTG	0.726000														19			10		0	0	1	0	0
METTL17	64745	broad.mit.edu	37	14	21462981	21462981	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:21462981T>A	uc001vyo.3	+	8	994	c.797T>A	c.(796-798)tTt>tAt	p.F266Y	METTL17_uc001vym.3_Missense_Mutation_p.F266Y|METTL17_uc001vyn.3_Missense_Mutation_p.F266Y	NM_001029991	NP_001025162	Q9H7H0	MET17_HUMAN	Homo sapiens methyltransferase like 17 (METTL17), transcript variant 1, mRNA.	266					translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						GTGTCAGCTTTTTCCTTAAGT	0.453000														11			4		0	0	1	0	0
ALX4	60529	broad.mit.edu	37	11	44297195	44297195	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:44297195G>A	uc001myb.3	-	1	584	c.480C>T	c.(478-480)tcC>tcT	p.S160S		NM_021926	NP_068745	Q9H161	ALX4_HUMAN	Homo sapiens ALX homeobox 4 (ALX4), mRNA.	160					hair follicle development					central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						GCTCACCCAGGGAGCTCTCTT	0.582000														27			5		0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120611912	120611912	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:120611912G>A	uc001txo.3	-	12	1168	c.1155C>T	c.(1153-1155)atC>atT	p.I385I		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	385					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)					GCTCAGCCACGATCCCATTCA	0.507000														17			4		0	0	1	0	0
ISL2	64843	broad.mit.edu	37	15	76633484	76633484	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:76633484G>A	uc002bbw.1	+	4	883	c.805G>A	c.(805-807)Gga>Aga	p.G269R	ISL2_uc021sqw.1_Non-coding_Transcript	NM_145805	NP_665804	Q96A47	ISL2_HUMAN	Homo sapiens ISL LIM homeobox 2 (ISL2), mRNA.	269						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						GAGCCTTCAGGGACTGACTGG	0.627000														58			7		0	0	1	0	0
PAAF1	80227	broad.mit.edu	37	11	73620622	73620622	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:73620622C>T	uc001ouk.1	+	6	745	c.711C>T	c.(709-711)tcC>tcT	p.S237S	PAAF1_uc001oul.1_Silent_p.S220S|PAAF1_uc001oum.1_Silent_p.S220S	NM_025155	NP_079431	Q9BRP4	PAAF1_HUMAN	Homo sapiens proteasomal ATPase-associated factor 1 (PAAF1), mRNA.	237					interspecies interaction between organisms	proteasome complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(11;7.42e-05)					ACCTTGGCTCCCCTGAGCAGA	0.473000														29			20		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20990868	20990868	+	Splice_Site	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr16:20990868C>T	uc010vbe.2	-	50	7860	c.7860_splice	c.e50-1	p.E2620_splice	DNAH3_uc010vbd.2_Splice_Site_p.E55_splice	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2620	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)		TGGACACGACCCTGCCGAGGA	0.473000														18			13		0	0	1	0	0
C7orf63	79846	broad.mit.edu	37	7	89915686	89915686	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:89915686C>T	uc010lep.3	+	13	1880	c.1629C>T	c.(1627-1629)ggC>ggT	p.G543G	C7orf63_uc003ukf.2_Non-coding_Transcript|C7orf63_uc003ukg.2_Silent_p.G218G|C7orf63_uc011khj.2_Silent_p.G525G|C7orf63_uc011khk.2_Silent_p.G105G	NM_001039706	NP_001034795	A5D8W1	CG063_HUMAN	Homo sapiens chromosome 7 open reading frame 63 (C7orf63), transcript variant 1, mRNA.	543							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						TCCTATCTGGCCTTTGTGAGA	0.353000														54			24		0	0	1	0	0
REG1B	5968	broad.mit.edu	37	2	79313967	79313967	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:79313967C>T	uc002sny.2	-	2	266	c.154G>A	c.(154-156)Gaa>Aaa	p.E52K	REG1B_uc010ffv.1_Missense_Mutation_p.E52K|REG1B_uc010ffw.3_Missense_Mutation_p.E52K	NM_006507	NP_006498	P48304	REG1B_HUMAN	Homo sapiens regenerating islet-derived 1 beta (REG1B), mRNA.	52	C-type lectin.				cell proliferation	extracellular region	sugar binding	p.E52*(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						TCAGGGTCTTCATTAAAGTAG	0.532000														49			49		0	0	1	0	0
HAVCR1	26762	broad.mit.edu	37	5	156479423	156479423	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:156479423C>T	uc010jij.1	-	3	807	c.622G>A	c.(622-624)Gtc>Atc	p.V208I	HAVCR1_uc011ddl.1_Missense_Mutation_p.V39I|HAVCR1_uc003lwi.2_Missense_Mutation_p.V208I|HAVCR1_uc021ygj.1_Missense_Mutation_p.V208I|HAVCR1_uc021ygk.1_Missense_Mutation_p.V39I|HAVCR1_uc011ddm.2_Missense_Mutation_p.V208I	NM_001099414	NP_036338	Q96D42	HAVR1_HUMAN	Homo sapiens hepatitis A virus cellular receptor 1 (HAVCR1), transcript variant 2, mRNA.	203					interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AAGGTAGAGACAGTTGTTGTC	0.478000														177			27		0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104433302	104433302	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr9:104433302G>A	uc004bbp.2	-	2	1993	c.1392C>T	c.(1390-1392)ttC>ttT	p.F464F	GRIN3A_uc004bbq.1_Silent_p.F464F	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	464					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GATTCCAGATGAAAAAGTTGT	0.493000														121			31		0	0	1	0	0
ZNF341	84905	broad.mit.edu	37	20	32369149	32369149	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr20:32369149C>T	uc002wzy.3	+	10	1695	c.1675C>T	c.(1675-1677)Ctg>Ttg	p.L559L	ZNF341_uc002wzx.3_Silent_p.L552L|ZNF341_uc010geq.3_Silent_p.L469L|ZNF341_uc010ger.3_Intron	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	Homo sapiens zinc finger protein 341 (ZNF341), mRNA.	559					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						GGAGCACCACCTGCAGACCGC	0.557000														159			68		0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72306417	72306417	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:72306417C>T	uc010iic.3	+	7	1009	c.892C>T	c.(892-894)Cct>Tct	p.P298S	SLC4A4_uc003hfy.3_Missense_Mutation_p.P298S|SLC4A4_uc010iib.3_Missense_Mutation_p.P298S|SLC4A4_uc003hfz.3_Missense_Mutation_p.P298S|SLC4A4_uc003hgc.4_Missense_Mutation_p.P254S|SLC4A4_uc003hga.2_Missense_Mutation_p.P176S|SLC4A4_uc003hgb.3_Missense_Mutation_p.P254S	NM_001134742	NP_001128214	Q9Y6R1	S4A4_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 4 (SLC4A4), transcript variant 3, mRNA.	298				P -> H (in Ref. 6; BAH58226).		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)			TTTGGATACTCCTTTCATTGC	0.488000														67			16		0	0	1	0	0
TRPV4	59341	broad.mit.edu	37	12	110230202	110230202	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:110230202G>A	uc001tpj.2	-	10	1952	c.1857C>T	c.(1855-1857)ctC>ctT	p.L619L	TRPV4_uc001tpg.2_Silent_p.L585L|TRPV4_uc021rdp.1_Silent_p.L559L|TRPV4_uc001tph.2_Silent_p.L572L|TRPV4_uc001tpi.2_Silent_p.L512L|TRPV4_uc001tpk.2_Silent_p.L619L	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA.	619					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						GCAAGTAGACGAGCAGGAATC	0.537000														15			4		0	0	1	0	0
RTP1	132112	broad.mit.edu	37	3	186917510	186917510	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:186917510G>A	uc003frg.3	+	1	474	c.444G>A	c.(442-444)gaG>gaA	p.E148E		NM_153708	NP_714919	P59025	RTP1_HUMAN	Homo sapiens receptor (chemosensory) transporter protein 1 (RTP1), mRNA.	148					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	p.E148K(1)		breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		TGCTGGAGGAGAACATCGAGG	0.692000														25			20		0	0	1	0	0
C1orf65	164127	broad.mit.edu	37	1	223568522	223568522	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:223568522G>A	uc001hoa.2	+	0	1808	c.1705G>A	c.(1705-1707)Gag>Aag	p.E569K		NM_152610	NP_689823	Q8N715	CA065_HUMAN	Homo sapiens chromosome 1 open reading frame 65 (C1orf65), mRNA.	569										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		TAAGAAAAAGGAGCAGAGGGT	0.527000														30			6		0	0	1	0	0
LILRB4	11006	broad.mit.edu	37	19	55175917	55175917	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:55175917C>T	uc002qgp.3	+	3	998	c.636C>T	c.(634-636)ccC>ccT	p.P212P	LILRB4_uc002qgq.3_Silent_p.P212P|LILRB4_uc010ers.1_Silent_p.P125P|LILRB4_uc010ert.3_Silent_p.P253P|LILRB4_uc010eru.3_Silent_p.P241P	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.	212	Ig-like C2-type 2.					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)		CCAGTGACCCCCTGGAGCTCA	0.612000														34			22		0	0	1	0	0
NET1	10276	broad.mit.edu	37	10	5496380	5496380	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:5496380C>T	uc001iia.3	+	8	1059	c.921C>T	c.(919-921)ttC>ttT	p.F307F	NET1_uc010qar.2_Silent_p.F126F|NET1_uc001iib.3_Silent_p.F253F|NET1_uc010qas.2_Silent_p.F126F	NM_001047160	NP_001040625	Q7Z628	ARHG8_HUMAN	Homo sapiens neuroepithelial cell transforming 1 (NET1), transcript variant 1, mRNA.	307	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|regulation of cell growth|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity			breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						TTTGGAGTTTCCTAGATATCC	0.433000														12			7		0	0	1	0	0
DGCR8	54487	broad.mit.edu	37	22	20073669	20073669	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr22:20073669C>T	uc002zri.3	+	1	612	c.183C>T	c.(181-183)ctC>ctT	p.L61L	DGCR8_uc010grz.3_Silent_p.L61L|DGCR8_uc002zrj.3_5'Flank	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 8 (DGCR8), transcript variant 1, mRNA.	61	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					AGTCCGAACTCCCTGCTGAGG	0.577000														72			21		0	0	1	0	0
WDR16	146845	broad.mit.edu	37	17	9490067	9490068	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:9490067_9490068CC>TT	uc010coc.3	+	3	582_583	c.353_354CC>TT	c.(352-354)tcc>tTT	p.S118F	WDR16_uc002gly.3_Missense_Mutation_p.S108F|WDR16_uc002glz.3_Missense_Mutation_p.S40F			Q8N1V2	WDR16_HUMAN	Homo sapiens WD repeat domain 16 (WDR16), transcript variant 2, mRNA.	108						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						GCTCGGCTGTCCCTTCACAAAG	0.450000														15			13		0	0	1	0	0
OR4B1	119765	broad.mit.edu	37	11	48239225	48239225	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:48239225G>A	uc010rhs.2	+	0	864	c.864G>A	c.(862-864)agG>agA	p.R288R		NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily B, member 1 (OR4B1), mRNA.	288					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						ACACACTCAGGAATGCAGAGG	0.433000														35			13		0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3342209	3342209	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:3342209C>T	uc001akf.3	+	12	3086	c.3004C>T	c.(3004-3006)Cac>Tac	p.H1002Y	PRDM16_uc001ake.3_Missense_Mutation_p.H1002Y|PRDM16_uc009vlh.3_Missense_Mutation_p.H702Y|PRDM16_uc001akc.3_Missense_Mutation_p.H1001Y	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	1002	Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CCGGAACATCCACAACAAGGA	0.612000			T	EVI1	"""MDS, AML"""									80			28		0	0	1	0	0
ZNF454	285676	broad.mit.edu	37	5	178392768	178392768	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:178392768C>T	uc003mjo.2	+	4	1664	c.1363C>T	c.(1363-1365)Ctt>Ttt	p.L455F	ZNF454_uc010jkz.2_Missense_Mutation_p.L455F|ZNF454_uc021yjc.1_Missense_Mutation_p.L455F	NM_182594	NP_872400	Q8N9F8	ZN454_HUMAN	Homo sapiens zinc finger protein 454 (ZNF454), transcript variant 2, mRNA.	455					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)		CCATTCAGCCCTTACCCAACA	0.408000														55			12		0	0	1	0	0
VSIG2	23584	broad.mit.edu	37	11	124619760	124619760	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:124619760G>A	uc001qas.3	-	3	506	c.430C>T	c.(430-432)Ccc>Tcc	p.P144S	VSIG2_uc001qat.3_Missense_Mutation_p.P144S	NM_014312	NP_055127	Q96IQ7	VSIG2_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 2 (VSIG2), mRNA.	144	Ig-like C2-type.					integral to plasma membrane|membrane fraction				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|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;0.0215)		TTACTGGGGGGAACTGCaaaa	0.458000														3			7		0	0	1	0	0
MEIS3P1	4213	broad.mit.edu	37	17	15690688	15690688	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:15690688C>T	uc002gpc.3	+	0	525	c.504C>T	c.(502-504)ttC>ttT	p.F168F						Homo sapiens Meis homeobox 3 pseudogene 1 (MEIS3P1), non-coding RNA.																		GGGGGATCTTCCCCAAGGTGG	0.607000														27			11		0	0	1	0	0
SEL1L3	23231	broad.mit.edu	37	4	25777909	25777909	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:25777909C>T	uc003gru.4	-	16	2811	c.2659G>A	c.(2659-2661)Gaa>Aaa	p.E887K	SEL1L3_uc003grv.3_Missense_Mutation_p.E294K	NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA.	887						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						CATGAACCTTCCAGGTAGGCA	0.413000														24			19		0	0	1	0	0
OR4D2	124538	broad.mit.edu	37	17	56247769	56247769	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:56247769C>T	uc010wnp.2	+	0	753	c.753C>T	c.(751-753)ttC>ttT	p.F251F		NM_001004707	NP_001004707	P58180	OR4D2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 2 (OR4D2), mRNA.	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						CCATGATCTTCGTTCCAAGCA	0.537000														122			18		0	0	1	0	0
HTR1A	3350	broad.mit.edu	37	5	63256910	63256910	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr5:63256910C>T	uc011cqt.2	-	0	637	c.637G>A	c.(637-639)Gtt>Att	p.V213I		NM_000524	NP_000515	P08908	5HT1A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1A (HTR1A), mRNA.	213					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			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)	CCATAGAGAACCAGCATGAGC	0.572000														93			76		0	0	1	0	0
CSHL1	1444	broad.mit.edu	37	17	61987536	61987536	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr17:61987536G>A	uc002jda.1	-	3	519	c.457C>T	c.(457-459)Caa>Taa	p.Q153*	CSHL1_uc002jcz.1_Nonsense_Mutation_p.Q130*|CSHL1_uc002jdb.1_Nonsense_Mutation_p.Q59*|CSHL1_uc002jdc.1_Nonsense_Mutation_p.Q70*|CSHL1_uc002jdd.1_Nonsense_Mutation_p.Q91*|CSHL1_uc021ubn.1_3'UTR	NM_022579	NP_001309	Q14406	CSHL_HUMAN	Homo sapiens chorionic somatomammotropin hormone-like 1 (CSHL1), transcript variant 1, mRNA.	153						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						ATCAGCATTTGGATGCCTTCC	0.582000														78			18		0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33134523	33134523	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:33134523C>T	uc003ocx.1	-	58	4540	c.4312G>A	c.(4312-4314)Ggc>Agc	p.G1438S	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.G1352S|COL11A2_uc003ocz.1_Missense_Mutation_p.G1331S	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	1438	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CCAGGGGAGCCCTGAGGCCCA	0.632000														62			14		0	0	1	0	0
TGM5	9333	broad.mit.edu	37	15	43548796	43548796	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:43548796C>T	uc001zrd.2	-	3	533	c.525G>A	c.(523-525)tgG>tgA	p.W175*	TGM5_uc001zre.2_Nonsense_Mutation_p.W93*	NM_201631	NP_963925	O43548	TGM5_HUMAN	Homo sapiens transglutaminase 5 (TGM5), transcript variant 1, mRNA.	175					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	ATGGGCGGATCCAGTTCTTGC	0.557000														218			43		0	0	1	0	0
USP21	27005	broad.mit.edu	37	1	161132472	161132472	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:161132472C>T	uc010pkc.2	+	5	1226	c.849C>T	c.(847-849)ttC>ttT	p.F283F	USP21_uc010pkd.2_Silent_p.F283F|USP21_uc021pbv.1_5'Flank	NM_001014443	NP_036607	Q9UK80	UBP21_HUMAN	Homo sapiens ubiquitin specific peptidase 21 (USP21), transcript variant 3, mRNA.	283					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	NEDD8-specific protease activity|metal ion binding|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CTACTCGATTCCGAGCTGTCT	0.547000														30			8		0	0	1	0	0
FAM101A	144347	broad.mit.edu	37	12	124798764	124798764	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:124798764C>T	uc021rfy.1	+	4	607	c.101C>T	c.(100-102)tCg>tTg	p.S34L	FAM101A_uc001ugd.2_Missense_Mutation_p.S34L|FAM101A_uc001uge.2_Missense_Mutation_p.S34L	NM_001204299	NP_001191228	Q6ZTI6	F101A_HUMAN	Homo sapiens protein FAM101A (ZNF664-FAM101A), mRNA.	115										endometrium(1)|kidney(1)|lung(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)		AAGTACGCCTCGGAGAAGCAT	0.612000														43			12		0	0	1	0	0
TRPV4	59341	broad.mit.edu	37	12	110234393	110234393	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr12:110234393G>A	uc001tpj.2	-	5	1364	c.1269C>T	c.(1267-1269)tcC>tcT	p.S423S	TRPV4_uc001tpg.2_Silent_p.S389S|TRPV4_uc021rdp.1_Intron|TRPV4_uc001tph.2_Silent_p.S376S|TRPV4_uc001tpi.2_Intron|TRPV4_uc001tpk.2_Silent_p.S423S	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA.	423					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						ACGTGTCCAGGGAGGAGAGGT	0.607000														44			18		0	0	1	0	0
HEPACAM	220296	broad.mit.edu	37	11	124793326	124793326	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:124793326C>T	uc001qbk.3	-	3	1119	c.713G>A	c.(712-714)aGa>aAa	p.R238K	HEPACAM_uc009zbj.3_5'UTR|HEPACAM_uc001qbl.1_Missense_Mutation_p.R238K	NM_152722	NP_689935	Q14CZ8	HECAM_HUMAN	Homo sapiens hepatic and glial cell adhesion molecule (HEPACAM), mRNA.	238					cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	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;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		AAGGGAGCTTCTTCCTAGGGA	0.537000														13			14		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107199151	107199151	+	RNA	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr14:107199151G>A	uc021ser.1	-	16		c.1538C>T								Parts of antibodies, mostly variable regions.																		CACTGAAGGTGAATCCAGAGG	0.587000														29			49		0	0	1	0	0
ANKRD20A11P	391267	broad.mit.edu	37	21	15326390	15326390	+	RNA	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr21:15326390C>T	uc002yji.2	-	1		c.825G>A								Homo sapiens ankyrin repeat domain 20 family, member A11, pseudogene (ANKRD20A11P), non-coding RNA.																		TTCTCACCTTCTCCTTTTCCA	0.468000														48			11		0	0	1	0	0
ANKRD50	57182	broad.mit.edu	37	4	125631632	125631632	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:125631632A>G	uc010inw.3	-	1	1073	c.35T>C	c.(34-36)aTg>aCg	p.M12T	ANKRD50_uc011cgo.2_Intron	NM_020337	NP_001161354	Q9ULJ7	ANR50_HUMAN	Homo sapiens ankyrin repeat domain 50 (ANKRD50), transcript variant 1, mRNA.	12										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						GGTTTGAGCCATTTTGCAGAC	0.423000														69			37		0	0	1	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150440140	150440140	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:150440140C>T	uc022apw.1	+	5	1665	c.1525C>T	c.(1525-1527)Cat>Tat	p.H509Y	GIMAP1-GIMAP5_uc003whr.2_Missense_Mutation_p.H305Y	NM_001199577	NP_001186506			Homo sapiens GIMAP1-GIMAP5 readthrough (GIMAP1-GIMAP5), mRNA.																		GTTCATCTTTCATTACATTTA	0.363000														29			21		0	0	1	0	0
OR4D11	219986	broad.mit.edu	37	11	59271830	59271830	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr11:59271830C>T	uc001noa.1	+	0	782	c.782C>T	c.(781-783)cCc>cTc	p.P261L		NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 11 (OR4D11), mRNA.	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R260L(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						TATGCCCGGCCCTTCACTGCC	0.557000														149			53		0	0	1	0	0
SFMBT1	51460	broad.mit.edu	37	3	52940138	52940138	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:52940138G>A	uc003dgf.3	-	20	3074	c.2451C>T	c.(2449-2451)ttC>ttT	p.F817F	SFMBT1_uc010hmr.3_Intron|SFMBT1_uc003dgg.3_Silent_p.F817F|SFMBT1_uc003dgh.3_Silent_p.F817F	NM_001005159	NP_057413	Q9UHJ3	SMBT1_HUMAN	Homo sapiens Scm-like with four mbt domains 1 (SFMBT1), transcript variant 1, mRNA.	817	SAM.				regulation of transcription, DNA-dependent	nucleus				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		CCTGGTCTAGGAATATTCTTG	0.383000														38			16		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9024180	9024180	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:9024180C>T	uc002mkp.3	-	17	37296	c.37092G>A	c.(37090-37092)gtG>gtA	p.V12364V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12366					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						TTCTGAGATCCACTGTGGAGG	0.468000														6			3		0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142566006	142566006	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr7:142566006G>A	uc011kst.2	+	13	2713	c.1926G>A	c.(1924-1926)gtG>gtA	p.V642V	EPHB6_uc011ksu.2_Silent_p.V642V|EPHB6_uc003wbs.3_Silent_p.V350V|EPHB6_uc003wbt.3_Silent_p.V116V|EPHB6_uc003wbu.3_Silent_p.V350V|EPHB6_uc003wbv.3_Silent_p.V26V	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	642						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GACTCGGGGTGAAGTATTACA	0.567000														78			20		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38690955	38690955	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:38690955G>A	uc021yzh.1	+	1	479	c.370G>A	c.(370-372)Gaa>Aaa	p.E124K	DNAH8_uc003ooe.2_5'UTR	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						CAATCTACAGGAAACATTAAA	0.438000														34			28		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24508808	24508808	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:24508808C>T	uc001iru.4	+	1	727	c.324C>T	c.(322-324)atC>atT	p.I108I	KIAA1217_uc001irs.3_Silent_p.I28I|KIAA1217_uc001irt.4_Silent_p.I108I|KIAA1217_uc010qcy.2_Silent_p.I108I|KIAA1217_uc010qcz.2_Silent_p.I108I	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	108					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CCTCTGCAATCATGGGTCACC	0.478000														28			17		0	0	1	0	0
OR5H15	403274	broad.mit.edu	37	3	97887590	97887590	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr3:97887590G>A	uc011bgu.2	+	0	47	c.47G>A	c.(46-48)gGa>gAa	p.G16E		NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 15 (OR5H15), mRNA.	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						GTTCTCACAGGATTTTTATAT	0.393000														120			24		0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32166241	32166241	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr6:32166241C>T	uc003obb.3	-	25	4852	c.4713G>A	c.(4711-4713)caG>caA	p.Q1571Q	GPSM3_uc003oaz.3_5'Flank|NOTCH4_uc011dpt.2_5'Flank|NOTCH4_uc003oba.3_Silent_p.Q231Q|NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc011dpw.1_5'Flank	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	1571					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			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						TCTCAGATTCCTGGGGAGGAG	0.547000														29			20		0	0	1	0	0
SYCP1	6847	broad.mit.edu	37	1	115398181	115398181	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr1:115398181C>T	uc001efr.3	+	1	305	c.96C>T	c.(94-96)tcC>tcT	p.S32S	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Silent_p.S32S|SYCP1_uc009wgw.3_Silent_p.S32S	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	32	Asp/Glu-rich (acidic).				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGGCGATTCCACTTTCTTCA	0.423000														36			11		0	0	1	0	0
STRN4	29888	broad.mit.edu	37	19	47226080	47226080	+	Silent	SNP	G	A	A			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr19:47226080G>A	uc002pfm.3	-	13	1947	c.1914C>T	c.(1912-1914)tcC>tcT	p.S638S	STRN4_uc002pfl.3_Silent_p.S631S|STRN4_uc010xyf.2_Non-coding_Transcript	NM_001039877	NP_001034966	Q9NRL3	STRN4_HUMAN	Homo sapiens striatin, calmodulin binding protein 4 (STRN4), transcript variant 2, mRNA.	631						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		TGCTGCCCCGGGACTCCAGCG	0.627000														73			30		0	0	1	0	0
C15orf32	145858	broad.mit.edu	37	15	93015490	93015491	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:93015490_93015491GG>AA	uc002brc.1	+	0	584_585	c.112_113GG>AA	c.(112-114)gga>AAa	p.G38K	C15orf32_uc010bod.1_Non-coding_Transcript	NM_153040	NP_694585	Q32M92	CO032_HUMAN	Homo sapiens chromosome 15 open reading frame 32 (C15orf32), mRNA.	38								p.G38*(4)|p.R37K(1)		endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	12	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			TTCCCCAAGAGGAGAAGGAACG	0.545000														167			11		0	0	1	0	0
ALB	213	broad.mit.edu	37	4	74274316	74274316	+	Silent	SNP	C	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr4:74274316C>T	uc003hgs.4	+	3	349	c.276C>T	c.(274-276)acC>acT	p.T92T	ALB_uc011cbe.2_Intron|ALB_uc003hgw.4_Intron|ALB_uc011cbf.2_5'UTR	NM_000477	NP_000468	P02768	ALBU_HUMAN	Homo sapiens albumin (ALB), mRNA.	92	Albumin 1.				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			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)	TTTAGCATACCCTTTTTGGAG	0.383000														22			3		0	0	1	0	0
OSBPL6	114880	broad.mit.edu	37	2	179251823	179251828	+	In_Frame_Del	DEL	ATGGAA	-	-			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr2:179251823_179251828delATGGAA	uc002uly.3	+	20	2732_2737	c.2188_2193delATGGAA	c.(2188-2193)atggaadel	p.ME730del	MIR548N_uc021vsx.1_Intron|OSBPL6_uc002ulx.3_In_Frame_Del_p.ME705del|OSBPL6_uc010zfe.2_In_Frame_Del_p.ME674del|OSBPL6_uc002ulz.3_In_Frame_Del_p.ME669del|OSBPL6_uc002uma.3_In_Frame_Del_p.ME709del	NM_001201480	NP_001188409	Q9BZF3	OSBL6_HUMAN	Homo sapiens oxysterol binding protein-like 6 (OSBPL6), transcript variant 3, mRNA.	705					lipid transport		lipid binding	p.V729G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			GGGGAAGTCGATGGAAATCCTGCCTG	0.403													---	7	---	---	5	---					
PHYHIPL	84457	broad.mit.edu	37	10	60998422	60998423	+	Frame_Shift_Ins	INS	-	T	T			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr10:60998422_60998423insT	uc001jkk.4	+	3	819_820	c.553_554insT	c.(553-555)gttfs	p.V185fs	PHYHIPL_uc001jkl.4_Frame_Shift_Ins_p.V139fs|PHYHIPL_uc001jkm.4_Frame_Shift_Ins_p.V159fs	NM_032439	NP_115815	Q96FC7	PHIPL_HUMAN	Homo sapiens phytanoyl-CoA 2-hydroxylase interacting protein-like (PHYHIPL), transcript variant 1, mRNA.	185										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1)	18						TAAGTTTTCTGTTTTTTATCGT	0.312													---	60	---	---	16	---					
DNM1P46	196968	broad.mit.edu	37	15	100332359	100332359	+	RNA	DEL	G	-	-			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr15:100332359delG	uc021sxl.1	-	1		c.794delC			DNM1P46_uc010urx.1_Non-coding_Transcript|DNM1P46_uc010ury.2_Non-coding_Transcript					Homo sapiens DNM1 pseudogene 46 (DNM1P46), non-coding RNA.																		GGGCAGGGGTGGGTGTTGCTG	0.612													---	98	---	---	21	---					
PKNOX1	5316	broad.mit.edu	37	21	44427659	44427677	+	Frame_Shift_Del	DEL	CAGAAGGAGTGAGCCCTCC	-	-			TCGA-EB-A431-01A-11D-A25O-08	TCGA-EB-A431-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9	83E98B10-CE20-443A-B403-A07FA2413BCA	g.chr21:44427659_44427677delCAGAAGGAGTGAGCCCTCC	uc002zcq.1	+	2	298_316	c.110_128delCAGAAGGAGTGAGCCCTCC	c.(109-129)gcagaaggagtgagccctcccfs	p.A37fs	PKNOX1_uc002zcp.1_Frame_Shift_Del_p.A37fs|PKNOX1_uc011aex.1_5'UTR|PKNOX1_uc002zcr.3_Frame_Shift_Del_p.A37fs	NM_004571	NP_004562	P55347	PKNX1_HUMAN	Homo sapiens PBX/knotted 1 homeobox 1 (PKNOX1), mRNA.	37							sequence-specific DNA binding			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						GAACCCGATGCAGAAGGAGTGAGCCCTCCCCCTGTGGAG	0.507													---	119	---	---	11	---					
