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
ANXA10	11199	broad.mit.edu	37	4	169099096	169099096	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr4:169099096T>G	uc003irm.3	+	7	754	c.590T>G	c.(589-591)aTg>aGg	p.M197R	ANXA10_uc003irn.3_Missense_Mutation_p.M69R	NM_007193	NP_009124	Q9UJ72	ANX10_HUMAN	Homo sapiens annexin A10 (ANXA10), mRNA.	197							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)		ATGCTGCAAATGATCCTGTGC	0.483000														42			15		0	0	0.004990	0	0
TTN	7273	broad.mit.edu	37	2	179576684	179576684	+	Silent	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr2:179576684G>A	uc021vsy.1	-	92	24366	c.24141C>T	c.(24139-24141)ttC>ttT	p.F8047F	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.F4708F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8974	Ig-like 63.						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)			GAACGGTAAGGAAAGTTGATG	0.353000														62			15		0	0	0.004990	0	0
ACSL5	51703	broad.mit.edu	37	10	114169401	114169401	+	Silent	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr10:114169401G>A	uc001kzu.3	+	6	949	c.837G>A	c.(835-837)ggG>ggA	p.G279G	ACSL5_uc001kzs.3_Silent_p.G223G|ACSL5_uc001kzt.3_Silent_p.G223G|ACSL5_uc009xxz.3_Silent_p.G223G|ACSL5_uc010qrj.2_5'UTR	NM_016234	NP_976314	Q9ULC5	ACSL5_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA.	223					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		AGCAAAGAGGGGAGAAGAGTG	0.468000														75			20		0	0	0.001882	0	0
GRM3	2913	broad.mit.edu	37	7	86394322	86394322	+	Splice_Site	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr7:86394322G>A	uc003uid.3	+	2	960	c.-139_splice	c.e2-1		GRM3_uc010lef.3_Splice_Site|GRM3_uc010leg.3_Intron|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.						synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	ATCTCTTTAGGAATTTTGTGA	0.388000														20			5		0	0	0.000602	0	0
CCDC73	493860	broad.mit.edu	37	11	32635092	32635092	+	Silent	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr11:32635092C>T	uc001mtv.3	-	15	2816	c.2772G>A	c.(2770-2772)tcG>tcA	p.S924S		NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	Homo sapiens coiled-coil domain containing 73 (CCDC73), mRNA.	924										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TGCAAGGGGTCGAACTGCTCG	0.383000														67			21		0	0	0.008871	0	0
ALOX12	239	broad.mit.edu	37	17	6913326	6913326	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr17:6913326C>A	uc002gdx.4	+	12	1746	c.1693C>A	c.(1693-1695)Cca>Aca	p.P565T	LOC100506713_uc021tou.1_Intron|LOC100506713_uc002gdy.2_Intron|ALOX12_uc002gdz.4_Missense_Mutation_p.P35T|RNASEK_uc021tow.1_5'Flank|RNASEK_uc002gea.3_5'Flank|C17orf49_uc002gec.3_5'Flank	NM_000697	NP_000688	P18054	LOX12_HUMAN	Homo sapiens arachidonate 12-lipoxygenase (ALOX12), mRNA.	565	Lipoxygenase.				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						GCGGATGCCCCCACCCACCAC	0.547000														30			14		1.49906e-05	2.54718e-05	0.002450	1	0
MYH2	4620	broad.mit.edu	37	17	10446476	10446476	+	Silent	SNP	A	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr17:10446476A>T	uc010coi.3	-	8	872	c.744T>A	c.(742-744)ggT>ggA	p.G248G	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.G248G|MYH2_uc010coj.3_Silent_p.G248G	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	248	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						TGATGAATTTACCCTTGAAAT	0.274000														78			23		0	0	0.004656	0	0
LUM	4060	broad.mit.edu	37	12	91502687	91502687	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr12:91502687C>T	uc001tbm.3	-	1	459	c.70G>A	c.(70-72)Gat>Aat	p.D24N		NM_002345	NP_002336	P51884	LUM_HUMAN	Homo sapiens lumican (LUM), mRNA.	24					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						AGGGGAAAATCATAATCATAG	0.413000														20			8		0	0	0.004482	0	0
C5orf42	65250	broad.mit.edu	37	5	37196077	37196077	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr5:37196077G>A	uc011cpa.1	-	20	3925	c.3694C>T	c.(3694-3696)Cct>Tct	p.P1232S	C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Missense_Mutation_p.P307S|C5orf42_uc011cpb.1_Missense_Mutation_p.P113S	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	1232										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CTCAGTGAAGGAAGGGATCCT	0.358000														36			7		0	0	0.003080	0	0
GRM4	2914	broad.mit.edu	37	6	34004036	34004036	+	Silent	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr6:34004036G>A	uc003oir.4	-	7	2214	c.1851C>T	c.(1849-1851)atC>atT	p.I617I	GRM4_uc011dsn.2_Silent_p.I570I|GRM4_uc010jvh.3_Silent_p.I617I|GRM4_uc010jvi.3_Silent_p.I309I|GRM4_uc003oio.3_Silent_p.I309I|GRM4_uc003oip.3_Non-coding_Transcript|GRM4_uc011dsl.2_Silent_p.I477I|GRM4_uc003oiq.3_Silent_p.I484I|GRM4_uc011dsm.2_Silent_p.I448I	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	617					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	AGGCCTTGACGATGGGCGTGT	0.632000														23			9		0	0	0.004482	0	0
ZSCAN12	9753	broad.mit.edu	37	6	28365849	28365849	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr6:28365849C>T	uc011dlh.2	-	1	513	c.334G>A	c.(334-336)Gag>Aag	p.E112K	ZSCAN12_uc010jre.3_Non-coding_Transcript	NM_001163391	NP_001156863			Homo sapiens zinc finger and SCAN domain containing 12 (ZSCAN12), transcript variant 1, mRNA.											breast(2)|endometrium(3)|urinary_tract(1)	6						TCCCCACTCTCTGGATGCTGC	0.542000														20			7		0	0	0.004482	0	0
SERPINB12	89777	broad.mit.edu	37	18	61228356	61228356	+	Silent	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr18:61228356G>A	uc010xeo.2	+	3	483	c.483G>A	c.(481-483)acG>acA	p.T161T	SERPINB12_uc010xen.2_Silent_p.T141T	NM_080474	NP_536722	Q96P63	SPB12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 12 (SERPINB12), mRNA.	141					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity	p.T141T(1)		kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						ACCACACGACGATTGAAAGTG	0.383000														62			12		0	0	0.001368	0	0
FCRL5	83416	broad.mit.edu	37	1	157516930	157516930	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr1:157516930C>T	uc009wsm.3	-	2	268	c.110G>A	c.(109-111)gGa>gAa	p.G37E	FCRL5_uc001fqu.3_Missense_Mutation_p.G37E|FCRL5_uc010phv.1_Missense_Mutation_p.G37E|FCRL5_uc010phw.1_Intron|FCRL5_uc001fqv.1_Missense_Mutation_p.G37E|FCRL5_uc010phx.2_5'UTR	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	37	Ig-like C2-type 1.					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)				CACTCTCTCTCCTTGGAAGAC	0.498000														80			26		0	0	0.006320	0	0
MSX2	4488	broad.mit.edu	37	5	174156265	174156265	+	Silent	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr5:174156265C>T	uc003mcy.3	+	1	571	c.483C>T	c.(481-483)ttC>ttT	p.F161F		NM_002449	NP_002440	P35548	MSX2_HUMAN	Homo sapiens msh homeobox 2 (MSX2), mRNA.	161					cranial suture morphogenesis|negative regulation of transcription, DNA-dependent|osteoblast differentiation	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.K160T(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10	Renal(175;0.000159)|Lung NSC(126;0.0196)|all_lung(126;0.0303)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			AGCGCAAGTTCCGTCAGAAAC	0.562000														31			7		0	0	0.001984	0	0
NLRC4	58484	broad.mit.edu	37	2	32475148	32475148	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr2:32475148T>A	uc002roi.3	-	3	2046	c.1785A>T	c.(1783-1785)ttA>ttT	p.L595F	NLRC4_uc021vfq.1_Missense_Mutation_p.L595F|NLRC4_uc002roj.2_Missense_Mutation_p.L595F|NLRC4_uc010ezt.2_Intron	NM_001199138	NP_001186067	Q9NPP4	NLRC4_HUMAN	Homo sapiens NLR family, CARD domain containing 4 (NLRC4), transcript variant 2, mRNA.	595					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					AGAAGTCAAATAAGTAATCGG	0.418000														77			21		0	0	0.008871	0	0
RPL27	6155	broad.mit.edu	37	17	41151974	41151974	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr17:41151974C>T	uc002icj.3	+	2	151	c.106C>T	c.(106-108)Cgc>Tgc	p.R36C		NM_000988	NP_000979	P61353	RL27_HUMAN	Homo sapiens ribosomal protein L27 (RPL27), mRNA.	36	KOW.				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	structural constituent of ribosome			cervix(1)|endometrium(1)|kidney(1)	3		Breast(137;0.000717)|Ovarian(249;0.0776)		BRCA - Breast invasive adenocarcinoma(366;0.157)		CACCTCAGATCGCCCCTACAG	0.478000														52			10		0	0	0.001368	0	0
TBXAS1	6916	broad.mit.edu	37	7	139661812	139661812	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr7:139661812C>T	uc011kqv.2	+	9	1290	c.1055C>T	c.(1054-1056)tCc>tTc	p.S352F	TBXAS1_uc003vvh.3_Missense_Mutation_p.S306F|TBXAS1_uc010lne.3_Missense_Mutation_p.S238F|TBXAS1_uc011kqu.2_Missense_Mutation_p.S257F|TBXAS1_uc003vvi.3_Missense_Mutation_p.S306F|TBXAS1_uc011kqw.2_Missense_Mutation_p.S286F|TBXAS1_uc003vvj.3_Missense_Mutation_p.S306F	NM_001166253	NP_001159725	P24557	THAS_HUMAN	Homo sapiens thromboxane A synthase 1 (platelet) (TBXAS1), transcript variant 4, mRNA.	305					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					GACGTTTTCTCCTCTACTGGG	0.567000														41			8		0	0	0.003080	0	0
OR13C4	138804	broad.mit.edu	37	9	107288808	107288808	+	Missense_Mutation	SNP	G	A	A	rs139144967		TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr9:107288808G>A	uc011lvn.2	-	0	683	c.683C>T	c.(682-684)aCg>aTg	p.T228M		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 4 (OR13C4), mRNA.	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						GGCCGAGTTCGTTCGCAAGAT	0.403000														81			24		0	0	0.005443	0	0
SLC30A10	55532	broad.mit.edu	37	1	220088945	220088945	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr1:220088945G>A	uc001hlw.3	-	3	1515	c.1304C>T	c.(1303-1305)cCc>cTc	p.P435L	RNU5F-1_uc021pjd.1_Intron|SLC30A10_uc001hlu.1_Intron|SLC30A10_uc001hlv.3_Missense_Mutation_p.P190L|SLC30A10_uc001hlx.3_Missense_Mutation_p.P210L	NM_018713	NP_061183	Q6XR72	ZNT10_HUMAN	Homo sapiens solute carrier family 30, member 10 (SLC30A10), mRNA.	435					zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		GTCTAGAGAGGGCCCACCATT	0.552000														49			16		0	0	0.004990	0	0
CTNNB1	1499	broad.mit.edu	37	3	41266124	41266124	+	Missense_Mutation	SNP	A	G	G	rs121913412		TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr3:41266124A>G	uc010hia.1	+	3	277	c.121A>G	c.(121-123)Acc>Gcc	p.T41A	CTNNB1_uc003ckq.2_Missense_Mutation_p.T41A|CTNNB1_uc003ckp.2_Missense_Mutation_p.T41A|CTNNB1_uc003ckr.2_Missense_Mutation_p.T41A|CTNNB1_uc011azf.1_Missense_Mutation_p.T34A|CTNNB1_uc011azg.1_Intron|AK311005_uc010hib.1_Non-coding_Transcript	NM_001904	NP_001895	P35222	CTNB1_HUMAN	Homo sapiens catenin (cadherin-associated protein), beta 1, 88kDa (CTNNB1), transcript variant 1, mRNA.	41			T -> A (in hepatoblastoma and hepatocellular carcinoma; also in a desmoid tumor; strongly reduces phosphorylation and degradation; abolishes phosphorylation on Ser-33 and Ser-37 and enhances transactivation of target genes).|T -> I (in PTR, hepatocellular carcinoma and ovarian cancer).		Schwann cell proliferation|T cell differentiation in thymus|adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of T cell proliferation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|Z disc|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|zonula adherens	I-SMAD binding|R-SMAD binding|RPTP-like protein binding|alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|ion channel binding|protein C-terminus binding|protein binding|protein kinase binding|protein phosphatase binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.T41A(1172)|p.A5_A80del(119)|p.T41I(78)|p.A5_A80>D(14)|p.A5_Q143del(14)|p.T41P(13)|p.T40I(12)|p.Q28_H134del(10)|p.H24_S47del(9)|p.T41S(9)|p.T41N(7)|p.W25_I140del(7)|p.T3_A126del(4)|p.M5_N141>D(4)|p.D32_S47del(4)|p.A5_Y142>D(4)|p.?(4)|p.L10_N141del(4)|p.S37_G48>C(2)|p.Q28_Q61del(2)|p.A20_N141del(2)|p.D11_Y142>H(2)|p.Y30_A97del(2)|p.T40_L46del(2)|p.Q28_A43del(2)|p.E15_I140>V(2)|p.H24_M131del(2)|p.A13_R151del(2)|p.M1_A87del(2)|p.V22_T102del(2)|p.A21_A80del(2)|p.P16_K133del(2)|p.A39_T42del(2)|p.I35_K170del(2)|p.M14_S45del(2)|p.Q4_A80del(2)|p.V22_L139>V(2)|p.T41T(2)|p.V22_S71>A(2)|p.A20_A80del(2)|p.A5_T59del(2)|p.M1_V173del(2)|p.T40S(2)|p.T40T(2)|p.M8_A80del(2)|p.A5_Q143>E(2)|p.H36_E53>L(2)|p.Y30_A80del(2)|p.A5fs*7(2)|p.T41_N51del(2)|p.A5_T40del(2)|p.A5_E54del(2)|p.I35_T41del(2)|p.V22_Y64del(2)|p.A20_S111del(2)|p.D6_A43del(1)|p.E9_S47del(1)|p.A20_R151del(1)|p.D17_P128del(1)|p.L7_I140del(1)|p.G38_S45del(1)|p.M8_L132del(1)|p.K19_Y142>V(1)|p.A20_L148del(1)|p.V22_A80del(1)|p.V22_G80>NNNNN(1)|p.A20_Q143del(1)|p.S23_I140del(1)|p.Q4_D144del(1)|p.V22_A97del(1)|p.D6_I140del(1)|p.Q28_I140del(1)|p.E9_A80del(1)|p.M8_G50del(1)|p.A5_G80>(1)|p.A5_R90del(1)|p.W25_A80del(1)|p.T40A(1)|p.E9_I140del(1)|p.Y30_T40del(1)|p.M1_T42del(1)|p.A5_Q72del(1)|p.D6_K133del(1)|p.A5_T42del(1)|p.A5_D144>D(1)|p.D17_A126del(1)|p.Q4_Y142del(1)|p.5_142>(1)|p.A20_Q72del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	TGGTGCCACTACCACAGCTCC	0.507000	T41A(CCK81_LARGE_INTESTINE)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of					14			7		0	0	0.001984	0	0
STAB1	23166	broad.mit.edu	37	3	52550415	52550415	+	Silent	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr3:52550415G>A	uc003dej.3	+	38	4262	c.4188G>A	c.(4186-4188)ggG>ggA	p.G1396G	STAB1_uc003dek.1_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	1396					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)		GGCTGCAAGGGGACGGAAGCT	0.632000														55			13		0	0	0.001855	0	0
TPSG1	25823	broad.mit.edu	37	16	1272234	1272234	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr16:1272234C>T	uc002ckw.2	-	4	621	c.619G>A	c.(619-621)Gac>Aac	p.D207N		NM_012467	NP_036599	Q9NRR2	TRYG1_HUMAN	Homo sapiens tryptase gamma 1 (TPSG1), mRNA.	207	Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			liver(1)|lung(2)|skin(1)	4		Hepatocellular(780;0.00369)				CACAGCATGTCGGGCTGAAGG	0.711000														29			13		0	0	0.001368	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553689	140553689	+	Missense_Mutation	SNP	G	A	A	rs147934905		TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr5:140553689G>A	uc003lit.3	+	0	1447	c.1273G>A	c.(1273-1275)Gac>Aac	p.D425N		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	425	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACCGTCACCGACTTGGGGAC	0.517000														49			14		0	0	0.004990	0	0
PDE11A	50940	broad.mit.edu	37	2	178634094	178634094	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr2:178634094G>A	uc002ulq.3	-	9	2063	c.1745C>T	c.(1744-1746)tCa>tTa	p.S582L	PDE11A_uc002ulp.3_Missense_Mutation_p.S138L|PDE11A_uc002ulr.3_Missense_Mutation_p.S332L|PDE11A_uc002uls.1_Missense_Mutation_p.S224L|PDE11A_uc002ult.1_Missense_Mutation_p.S332L|PDE11A_uc002ulu.1_Missense_Mutation_p.S224L	NM_016953	NP_001070664	Q9HCR9	PDE11_HUMAN	Homo sapiens phosphodiesterase 11A (PDE11A), transcript variant 4, mRNA.	582					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			TGCATGGTATGATAGCACCTG	0.328000									Primary Pigmented Nodular Adrenocortical Disease, Familial					19			6		0	0	0.001168	0	0
C1orf106	55765	broad.mit.edu	37	1	200880917	200880917	+	Silent	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr1:200880917C>T	uc001gvo.3	+	8	1593	c.1551C>T	c.(1549-1551)ttC>ttT	p.F517F	C1orf106_uc010ppm.2_Silent_p.F432F	NM_018265	NP_001136041	Q3KP66	CA106_HUMAN	Homo sapiens chromosome 1 open reading frame 106 (C1orf106), transcript variant 1, mRNA.	517										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						CTGGCTATTTCCCGGCGGGGC	0.731000														21			4		0	0	0.000602	0	0
APOBEC1	339	broad.mit.edu	37	12	7805350	7805350	+	Silent	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr12:7805350G>A	uc001qtb.3	-	2	160	c.126C>T	c.(124-126)atC>atT	p.I42I	APOBEC1_uc001qtc.3_5'UTR	NM_001644	NP_001635	P41238	ABEC1_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 (APOBEC1), mRNA.	42					DNA demethylation|cytidine to uridine editing|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	RNA binding|cytidine deaminase activity|zinc ion binding	p.E41K(1)		kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						TGCCCCACTTGATTTCGTAGA	0.438000														34			7		0	0	0.003080	0	0
C18orf34	374864	broad.mit.edu	37	18	30795606	30795606	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr18:30795606C>T	uc010xbr.1	-	17	2128	c.1986G>A	c.(1984-1986)atG>atA	p.M662I	C18orf34_uc010dme.1_Missense_Mutation_p.M176I|C18orf34_uc002kxn.2_Missense_Mutation_p.M662I|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.M624I|C18orf34_uc002kxp.3_Missense_Mutation_p.M662I	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA.	662								p.M624I(1)|p.M662I(1)		NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2)	65						CATAAAAAATCATTGTCTTAC	0.254000														27			5		0	0	0.000602	0	0
OR5D13	390142	broad.mit.edu	37	11	55540935	55540935	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr11:55540935C>T	uc010ril.2	+	0	22	c.22C>T	c.(22-24)Caa>Taa	p.Q8*		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TGAAAGAAATCAAAGCAGCAC	0.378000														60			15		0	0	0.003163	0	0
POSTN	10631	broad.mit.edu	37	13	38143519	38143519	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr13:38143519C>T	uc001uwo.4	-	21	2466	c.2348_splice	c.e21-1	p.E783_splice	POSTN_uc010tet.2_Splice_Site_p.E284_splice|POSTN_uc001uwp.4_Splice_Site_p.E726_splice|POSTN_uc001uwr.3_Intron|POSTN_uc001uwq.3_Intron|POSTN_uc010teu.1_Splice_Site_p.E756_splice|POSTN_uc010tev.1_Splice_Site_p.E696_splice|POSTN_uc010tew.1_Intron	NM_006475	NP_006466	Q15063	POSTN_HUMAN	Homo sapiens periostin, osteoblast specific factor (POSTN), transcript variant 1, mRNA.	783					cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CCTTGGTGACCTCTGAGAGGA	0.343000														29			4		0	0	0.000248	0	0
ITGB8	3696	broad.mit.edu	37	7	20445781	20445781	+	Silent	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr7:20445781C>T	uc003suu.3	+	11	2715	c.2010C>T	c.(2008-2010)gtC>gtT	p.V670V	ITGB8_uc011jyh.2_Silent_p.V535V	NM_002214	NP_002205	P26012	ITB8_HUMAN	Homo sapiens integrin, beta 8 (ITGB8), mRNA.	670					cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						AGCATTATGTCGACCAAACTT	0.423000														27			23		0	0	0.002780	0	0
SYN3	8224	broad.mit.edu	37	22	33265034	33265034	+	Silent	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr22:33265034C>T	uc003amx.3	-	3	702	c.540G>A	c.(538-540)ctG>ctA	p.L180L	SYN3_uc003amy.3_Silent_p.L180L|SYN3_uc003amz.3_Silent_p.L179L	NM_003490	NP_003481	O14994	SYN3_HUMAN	Homo sapiens synapsin III (SYN3), transcript variant IIIa, mRNA.	180	C; actin-binding and synaptic-vesicle binding.				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						GGCCGATGACCAGGCTGCGGT	0.587000														22			6		0	0	0.001984	0	0
PRUNE2	158471	broad.mit.edu	37	9	79318448	79318448	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr9:79318448G>A	uc010mpk.3	-	8	8205	c.8081C>T	c.(8080-8082)cCa>cTa	p.P2694L	PRUNE2_uc004akj.4_Missense_Mutation_p.P147L|PRUNE2_uc022big.1_Non-coding_Transcript|PRUNE2_uc010mpl.1_Missense_Mutation_p.P147L|PRUNE2_uc022bih.1_Missense_Mutation_p.P2516L	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	2694					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TTGGCTGACTGGACCAGAGGC	0.537000														49			27		0	0	0.004656	0	0
MECOM	2122	broad.mit.edu	37	3	168834173	168834173	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr3:168834173G>A	uc011bpj.1	-	7	1890	c.1487C>T	c.(1486-1488)cCt>cTt	p.P496L	MECOM_uc010hwk.1_Missense_Mutation_p.P331L|MECOM_uc003ffj.3_Missense_Mutation_p.P373L|MECOM_uc003ffi.3_Missense_Mutation_p.P308L|MECOM_uc011bpi.1_Missense_Mutation_p.P309L|MECOM_uc003ffn.3_Missense_Mutation_p.P308L|MECOM_uc003ffk.2_Missense_Mutation_p.P308L|MECOM_uc003ffl.2_Missense_Mutation_p.P468L|MECOM_uc011bpk.1_Missense_Mutation_p.P308L|MECOM_uc010hwn.2_Missense_Mutation_p.P496L	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CAAGCCGGAAGGAAACAGACC	0.478000														31			10		0	0	0.008291	0	0
C8B	732	broad.mit.edu	37	1	57422471	57422471	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr1:57422471C>T	uc001cyp.3	-	2	429	c.362G>A	c.(361-363)cGa>cAa	p.R121Q	C8B_uc010oon.2_Missense_Mutation_p.R59Q|C8B_uc010ooo.2_Missense_Mutation_p.R69Q	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	121	LDL-receptor class A.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						GCCTTCACATCGCACTTGACT	0.483000														209			63		0	0	0.003610	0	0
COLEC11	78989	broad.mit.edu	37	2	3691389	3691389	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr2:3691389C>T	uc002qya.3	+	6	645	c.497C>T	c.(496-498)gCc>gTc	p.A166V	COLEC11_uc002qxz.3_Missense_Mutation_p.A163V|COLEC11_uc002qyb.3_Missense_Mutation_p.A142V|COLEC11_uc002qyc.3_Missense_Mutation_p.A142V|COLEC11_uc010ewo.3_Missense_Mutation_p.A118V|COLEC11_uc010ewp.3_Missense_Mutation_p.A140V|COLEC11_uc010ewq.3_Missense_Mutation_p.A116V|COLEC11_uc010ewr.3_Missense_Mutation_p.A116V|COLEC11_uc010ews.3_Missense_Mutation_p.A92V	NM_024027	NP_076932	Q9BWP8	COL11_HUMAN	Homo sapiens collectin sub-family member 11 (COLEC11), transcript variant 1, mRNA.	166	C-type lectin.					collagen	mannose binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		TACGCGGACGCCCAGCTGTCC	0.667000														21			10		0	0	0.006214	0	0
GRIK5	2901	broad.mit.edu	37	19	42569525	42569525	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr19:42569525C>T	uc002osj.1	-	1	129	c.94G>A	c.(94-96)Gat>Aat	p.D32N	GRIK5_uc010eib.1_5'UTR	NM_002088	NP_002079	Q16478	GRIK5_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 5 (GRIK5), mRNA.	32						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	ACTGTCTGATCATCCAGGATT	0.622000														27			13		0	0	0.001855	0	0
KCNB1	3745	broad.mit.edu	37	20	47990865	47990865	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr20:47990865A>T	uc002xur.1	-	1	1398	c.1232T>A	c.(1231-1233)aTc>aAc	p.I411N	KCNB1_uc002xus.1_Missense_Mutation_p.I411N	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	411					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ATTGACGATGATGGGGATGGG	0.512000														52			12		0	0	0.001855	0	0
ZNF516	9658	broad.mit.edu	37	18	74091512	74091512	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr18:74091512G>A	uc021ulp.1	-	3	2876	c.2558C>T	c.(2557-2559)cCc>cTc	p.P853L	ZNF516_uc002lmd.3_Non-coding_Transcript	NM_014643	NP_055458	Q92618	ZN516_HUMAN	Homo sapiens zinc finger protein 516 (ZNF516), mRNA.	853					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P853L(2)		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)		CACTCCCAGGGGAGAAGAGCC	0.627000														86			30		0	0	0.002445	0	0
SRCAP	10847	broad.mit.edu	37	16	30735349	30735349	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr16:30735349C>T	uc002dze.1	+	24	4989	c.4604C>T	c.(4603-4605)cCa>cTa	p.P1535L	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.P1330L	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	1535	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TCACATGTTCCAGGGTTGAAC	0.572000														17			5		0	0	0.000602	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77401460	77401460	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr16:77401460C>T	uc002ffc.4	-	3	1075	c.656G>A	c.(655-657)gGc>gAc	p.G219D	ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_Non-coding_Transcript	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	219					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G219V(2)|p.G216_G219del(2)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CCGGCCAGAGCCGGGGTAGCC	0.547000														40			10		0	0	0.001368	0	0
SPATA16	83893	broad.mit.edu	37	3	172607390	172607390	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr3:172607390C>T	uc003fin.4	-	10	1864	c.1680G>A	c.(1678-1680)atG>atA	p.M560I		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	Homo sapiens spermatogenesis associated 16 (SPATA16), mRNA.	560					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)			GAAGTCGCTTCATTTTTGTTT	0.403000														139			34		0	0	0.005524	0	0
TPSG1	25823	broad.mit.edu	37	16	1271813	1271813	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr16:1271813C>T	uc002ckw.2	-	5	943	c.941G>A	c.(940-942)gGt>gAt	p.G314D		NM_012467	NP_036599	Q9NRR2	TRYG1_HUMAN	Homo sapiens tryptase gamma 1 (TPSG1), mRNA.	314					proteolysis	integral to plasma membrane	serine-type endopeptidase activity			liver(1)|lung(2)|skin(1)	4		Hepatocellular(780;0.00369)				GAAGGGAGTACCATCCGCAGA	0.577000														19			9		0	0	0.000978	0	0
CCDC102B	79839	broad.mit.edu	37	18	66678264	66678264	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr18:66678264C>T	uc002lkk.2	+	8	1580	c.1357C>T	c.(1357-1359)Caa>Taa	p.Q453*	CCDC102B_uc002lki.2_Nonsense_Mutation_p.Q453*	NM_001093729	NP_079057	Q68D86	C102B_HUMAN	Homo sapiens coiled-coil domain containing 102B (CCDC102B), transcript variant 1, mRNA.	453										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)				CCGAGTGGATCAAAATGAAGC	0.373000														22			8		0	0	0.000978	0	0
ZFR	51663	broad.mit.edu	37	5	32355973	32355973	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr5:32355973G>C	uc003jhr.1	-	19	3198	c.3118C>G	c.(3118-3120)Caa>Gaa	p.Q1040E	ZFR_uc010ium.1_Missense_Mutation_p.Q171E|ZFR_uc011cny.1_Non-coding_Transcript	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN	Homo sapiens zinc finger RNA binding protein (ZFR), mRNA.	1040					multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		TTAAAACGTTGGCTCATTTGC	0.398000														83			34		0	0	0.002836	0	0
KIAA0146	23514	broad.mit.edu	37	8	48641592	48641592	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr8:48641592T>C	uc003xqd.3	+	17	2595	c.2533T>C	c.(2533-2535)Tgc>Cgc	p.C845R	KIAA0146_uc011ldc.2_Missense_Mutation_p.C775R|KIAA0146_uc011ldd.2_Missense_Mutation_p.C785R|KIAA0146_uc003xqe.3_Missense_Mutation_p.C320R|KIAA0146_uc003xqf.3_Non-coding_Transcript|KIAA0146_uc010lxt.3_Intron|KIAA0146_uc011ldf.2_Missense_Mutation_p.C350R|KIAA0146_uc011ldg.2_Missense_Mutation_p.C335R|KIAA0146_uc003xqg.1_Intron	NM_001080394	NP_001073863	Q14159	K0146_HUMAN	Homo sapiens KIAA0146 (KIAA0146), mRNA.	845										central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Lung NSC(58;0.175)				AAGACCGCAGTGCAGAGTGAA	0.597000														22			6		0	0	0.001984	0	0
DSP	1832	broad.mit.edu	37	6	7575659	7575659	+	Silent	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr6:7575659C>T	uc003mxp.1	+	17	2847	c.2568C>T	c.(2566-2568)ttC>ttT	p.F856F	DSP_uc003mxq.1_Silent_p.F856F|DSP_uc021yle.1_Silent_p.F856F	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	856	Globular 1.				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)		TGGGCAAGTTCGGTGAAAAAG	0.498000														83			19		0	0	0.001882	0	0
THG1L	54974	broad.mit.edu	37	5	157158487	157158487	+	Silent	SNP	G	A	A	rs149523877		TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr5:157158487G>A	uc003lxd.3	+	0	165	c.39G>A	c.(37-39)ttG>ttA	p.L13L	THG1L_uc011ddu.2_5'UTR	NM_017872	NP_060342	Q9NWX6	THG1_HUMAN	Homo sapiens tRNA-histidine guanylyltransferase 1-like (S. cerevisiae) (THG1L), mRNA.	13					protein homotetramerization|tRNA modification	mitochondrion	GTP binding|metal ion binding|tRNA guanylyltransferase activity			NS(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)	13	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACGATTCCTTGGCCACCATTT	0.557000														63			25		0	0	0.003330	0	0
TDRD6	221400	broad.mit.edu	37	6	46657689	46657689	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr6:46657689G>T	uc003oyj.3	+	0	2078	c.1824G>T	c.(1822-1824)ttG>ttT	p.L608F	TDRD6_uc010jze.3_Missense_Mutation_p.L608F	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.	608					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)			TTTGGCCTTTGGGAAAAACTT	0.428000														31			10		2.80697e-09	4.82846e-09	0.000978	1	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	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					40			28		0	0	0.007291	0	0
LYST	1130	broad.mit.edu	37	1	235973240	235973240	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr1:235973240A>G	uc001hxj.2	-	4	1053	c.878T>C	c.(877-879)cTa>cCa	p.L293P	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript|LYST_uc001hxl.1_Missense_Mutation_p.L293P	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	293					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AAAGCCTGCTAGGAATTCAGT	0.438000														23			6		0	0	0.001984	0	0
EIF2C2	27161	broad.mit.edu	37	8	141542233	141542233	+	Silent	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr8:141542233G>A	uc003yvn.3	-	18	2531	c.2490C>T	c.(2488-2490)acC>acT	p.T830T	EIF2C2_uc010meo.3_Silent_p.T796T|EIF2C2_uc010men.3_Silent_p.T753T	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 2 (EIF2C2), transcript variant 1, mRNA.	830					mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|mRNA cap binding complex|micro-ribonucleoprotein complex|nucleus|polysome	RNA 7-methylguanosine cap binding|endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|siRNA binding|translation initiation factor activity			NS(1)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	33	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			TCTGCCCAGAGGTATGGCTTC	0.532000														204			31		0	0	0.003271	0	0
BMP3	651	broad.mit.edu	37	4	81967122	81967122	+	Silent	SNP	C	T	T	rs147415195		TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr4:81967122C>T	uc003hmg.4	+	1	867	c.547C>T	c.(547-549)Ctg>Ttg	p.L183L		NM_001201	NP_001192	P12645	BMP3_HUMAN	Homo sapiens bone morphogenetic protein 3 (BMP3), mRNA.	183					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	p.H182R(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						CCTTGGCCATCTGTCAGTGGA	0.438000														126			37		0	0	0.007835	0	0
OR4E2	26686	broad.mit.edu	37	14	22133748	22133748	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr14:22133748G>A	uc010tmd.2	+	0	452	c.452G>A	c.(451-453)gGg>gAg	p.G151E		NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily E, member 2 (OR4E2), mRNA.	151					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)		CTCTGGTTGGGGGGTACTGTT	0.483000														67			21		0	0	0.003330	0	0
IGFBP6	3489	broad.mit.edu	37	12	53494516	53494516	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr12:53494516G>A	uc001sbu.1	+	1	421	c.355G>A	c.(355-357)Gag>Aag	p.E119K	SOAT2_uc001sbv.3_5'Flank|SOAT2_uc009zms.3_5'Flank	NM_002178	NP_002169	P24592	IBP6_HUMAN	Homo sapiens insulin-like growth factor binding protein 6 (IGFBP6), mRNA.	119					negative regulation of cell proliferation|regulation of cell growth|signal transduction					large_intestine(1)|lung(3)|ovary(1)|pancreas(1)	6						GAATCCTAAGGAGAGTAAACC	0.572000														51			14		0	0	0.002450	0	0
ROS1	6098	broad.mit.edu	37	6	117631283	117631283	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr6:117631283C>T	uc003pxp.1	-	39	6594	c.6395G>A	c.(6394-6396)aGt>aAt	p.S2132N	ROS1_uc011ebi.1_Non-coding_Transcript	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	2132	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ATCCATCAAACTTTCTGGAGC	0.418000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									68			30		0	0	0.002836	0	0
CACNG5	27091	broad.mit.edu	37	17	64880735	64880735	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr17:64880735G>A	uc010wqi.2	+	4	764	c.527G>A	c.(526-528)gGg>gAg	p.G176E	CACNG5_uc010wqj.2_Missense_Mutation_p.G176E|CACNG5_uc021uby.1_Non-coding_Transcript	NM_145811	NP_665810	Q9UF02	CCG5_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 5 (CACNG5), mRNA.	176					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)			TACAAGTATGGGTGGTCGTTT	0.552000														49			14		0	0	0.003163	0	0
OGG1	4968	broad.mit.edu	37	3	9798815	9798815	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr3:9798815C>T	uc003bsi.3	+	6	1362	c.1019C>T	c.(1018-1020)tCc>tTc	p.S340F	OGG1_uc003bsj.3_Missense_Mutation_p.P346S|OGG1_uc003bsh.3_3'UTR|OGG1_uc003bsl.3_Intron|OGG1_uc003bsk.3_Intron|OGG1_uc003bsm.3_Intron|OGG1_uc003bsn.3_Intron|OGG1_uc003bso.3_Intron|OGG1_uc003bsr.2_Missense_Mutation_p.S105F|OGG1_uc010hcm.2_Missense_Mutation_p.P133S|OGG1_uc003bsq.2_Missense_Mutation_p.P55S|OGG1_uc003bsp.2_Missense_Mutation_p.P111S	NM_002542	NP_002533	O15527	OGG1_HUMAN	Homo sapiens 8-oxoguanine DNA glycosylase (OGG1), nuclear gene encoding mitochondrial protein, transcript variant 1a, mRNA.	340					depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding			kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					AGAAAGGGTTCCAAAGGGCCG	0.607000								Base excision repair (BER), DNA glycosylases						38			13		0	0	0.001368	0	0
ELMO1	9844	broad.mit.edu	37	7	37382254	37382254	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr7:37382254C>T	uc022abv.1	-	1	751	c.41G>A	c.(40-42)tGg>tAg	p.W14*	ELMO1_uc003tfk.2_Nonsense_Mutation_p.W14*|ELMO1_uc010kxg.2_Nonsense_Mutation_p.W14*	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	14					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			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						GGCGCCCGGCCATTCTATGGC	0.483000														119			59		0	0	0.003610	0	0
COL15A1	1306	broad.mit.edu	37	9	101748013	101748013	+	Silent	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr9:101748013G>A	uc004azb.1	+	2	473	c.267G>A	c.(265-267)agG>agA	p.R89R		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	89	TSP N-terminal.				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CCTTCTTCAGGGACTTCGCCA	0.617000														31			11		0	0	0.001855	0	0
OR3A1	4994	broad.mit.edu	37	17	3195158	3195158	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr17:3195158G>A	uc002fvh.1	-	0	719	c.719C>T	c.(718-720)gCc>gTc	p.A240V		NM_002550	NP_002541	P47881	OR3A1_HUMAN	Homo sapiens olfactory receptor, family 3, subfamily A, member 1 (OR3A1), mRNA.	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						TGTGGAGAAGGCTTTCTTCCT	0.488000														39			7		0	0	0.003080	0	0
GREB1	9687	broad.mit.edu	37	2	11696826	11696826	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr2:11696826A>G	uc002rbk.1	+	1	386	c.86A>G	c.(85-87)aAc>aGc	p.N29S	GREB1_uc002rbl.3_Missense_Mutation_p.N29S|GREB1_uc002rbm.3_Intron|GREB1_uc002rbn.1_Missense_Mutation_p.N29S	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA.	29						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CTGCGGTCCAACAACCTGGTG	0.537000														42			9		0	0	0.004482	0	0
CAMTA1	23261	broad.mit.edu	37	1	7723467	7723467	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr1:7723467C>T	uc001aoi.3	+	8	1067	c.860C>T	c.(859-861)tCg>tTg	p.S287L		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	287					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	p.S287L(2)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CGCATCATCTCGCCCAAGGTG	0.637000			T	WWTR1	epitheliod hemangioendothelioma									84			27		0	0	0.006320	0	0
ZFP112	7771	broad.mit.edu	37	19	44834031	44834031	+	Silent	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr19:44834031G>A	uc010xwy.2	-	4	466	c.348C>T	c.(346-348)tcC>tcT	p.S116S	ZFP112_uc010ejj.3_Silent_p.S99S|ZFP112_uc002ozc.4_Silent_p.S93S|ZFP112_uc010xwz.2_Silent_p.S98S	NM_013380	NP_037512	Q9UJU3	ZF112_HUMAN	Homo sapiens zinc finger protein 112 homolog (mouse) (ZFP112), transcript variant 2, mRNA.	99					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(1)|lung(8)|ovary(3)|prostate(4)|skin(3)	41						GCTCTTTGGGGGAAAAGTAGC	0.418000														40			5		0	0	0.000602	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19666684	19666684	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr21:19666684G>A	uc002ykw.3	-	20	2420	c.2389C>T	c.(2389-2391)Ccc>Tcc	p.P797S		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	797	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						ACAACCCAGGGCCAGGCCCCT	0.527000														80			23		0	0	0.002780	0	0
FAM86FP	653113	broad.mit.edu	37	12	8384412	8384412	+	RNA	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr12:8384412G>A	uc010sgk.2	-	4		c.1376C>T								Homo sapiens family with sequence similarity 86, member F, pseudogene (FAM86FP), non-coding RNA.																		TGTCCTTCCCGCAGCTTCTTC	0.582000														21			4		0	0	0.001984	0	0
OR1J2	26740	broad.mit.edu	37	9	125273927	125273927	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr9:125273927C>G	uc011lyv.2	+	0	847	c.847C>G	c.(847-849)Ccc>Gcc	p.P283A	OR1J2_uc004bmj.2_Missense_Mutation_p.P283A	NM_054107	NP_473448	Q8NGS2	OR1J2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 2 (OR1J2), mRNA.	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						GGTGGTCACACCCATGTTGAA	0.448000														86			25		0	0	0.004656	0	0
GUCY2C	2984	broad.mit.edu	37	12	14804923	14804923	+	Silent	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr12:14804923G>A	uc001rcd.3	-	13	1712	c.1575C>T	c.(1573-1575)ttC>ttT	p.F525F		NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	525	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						GTTTTTCAGTGAAATTACCAT	0.363000														32			13		0	0	0.004990	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995915	140995915	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chrX:140995915G>A	uc004fbt.3	+	3	3049	c.2725G>A	c.(2725-2727)Gat>Aat	p.D909N	MAGEC1_uc010nsl.2_5'UTR|MAGEC1_uc022cfi.1_Missense_Mutation_p.D568N	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	909	MAGE.						protein binding	p.D909N(2)		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)					TTATACACTGGATGAAAAGGT	0.463000										HNSCC(15;0.026)				54			104		0	0	0.003610	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140167763	140167763	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr5:140167763G>A	uc003lhb.2	+	0	1888	c.1888G>A	c.(1888-1890)Gag>Aag	p.E630K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lgz.3_Missense_Mutation_p.E630K	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	641	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.D629N(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)			GTACACGGGCGAGATCAGCAC	0.667000														48			15		0	0	0.004007	0	0
RET	5979	broad.mit.edu	37	10	43606829	43606829	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr10:43606829G>A	uc001jal.3	+	6	1628	c.1438G>A	c.(1438-1440)Gaa>Aaa	p.E480K	RET_uc001jak.1_Missense_Mutation_p.E480K|RET_uc010qez.1_Missense_Mutation_p.E226K	NM_020975	NP_066124	P07949	RET_HUMAN	Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	480					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CAAGTGTGCCGAACTTCACTA	0.622000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma					30			10		0	0	0.000978	0	0
CD1C	911	broad.mit.edu	37	1	158261016	158261016	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr1:158261016G>A	uc001fru.3	+	1	446	c.154G>A	c.(154-156)Gag>Aag	p.E52K	CD1C_uc021pbl.1_5'Flank	NM_001765	NP_001756	P29017	CD1C_HUMAN	Homo sapiens CD1c molecule (CD1C), mRNA.	52					T cell activation involved in immune response|antigen processing and presentation	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					ATGGCTGGACGAGTTGCAGAC	0.498000														50			15		0	0	0.004990	0	0
CCBE1	147372	broad.mit.edu	37	18	57147453	57147453	+	Missense_Mutation	SNP	C	T	T	rs140934817		TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr18:57147453C>T	uc002lib.3	-	2	300	c.230G>A	c.(229-231)gGa>gAa	p.G77E		NM_133459	NP_597716	Q6UXH8	CCBE1_HUMAN	Homo sapiens collagen and calcium binding EGF domains 1 (CCBE1), mRNA.	77					lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding	p.G77E(2)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				AAATTTATATCCTTTGCAGCA	0.264000														22			14		0	0	0.004007	0	0
STAB2	55576	broad.mit.edu	37	12	104046378	104046378	+	Silent	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr12:104046378G>A	uc001tjw.3	+	11	1488	c.1302G>A	c.(1300-1302)gtG>gtA	p.V434V		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	434	FAS1 1.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AATACTTTGTGAAACTCCACA	0.363000														27			6		0	0	0.001984	0	0
DUOX1	53905	broad.mit.edu	37	15	45424173	45424173	+	Silent	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr15:45424173C>T	uc001zus.1	+	2	355	c.9C>T	c.(7-9)ttC>ttT	p.F3F	DUOXA1_uc001zup.3_5'Flank|DUOXA1_uc010bec.3_5'Flank|DUOXA1_uc001zur.1_5'Flank|DUOXA1_uc010bed.1_5'Flank|DUOX1_uc001zut.1_Silent_p.F3F|DUOX1_uc010bee.1_5'UTR	NM_017434	NP_787954	Q9NRD9	DUOX1_HUMAN	Homo sapiens dual oxidase 1 (DUOX1), transcript variant 1, mRNA.	3					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TCATGGGCTTCTGCCTGGCTC	0.507000														106			41		0	0	0.002522	0	0
LILRA1	11024	broad.mit.edu	37	19	55106622	55106622	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr19:55106622G>A	uc002qgh.1	+	4	598	c.416G>A	c.(415-417)gGg>gAg	p.G139E	LILRA1_uc010yfg.1_Intron|LILRA1_uc010yfh.2_Missense_Mutation_p.G139E	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	139	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		ACCTCAGGAGGGAACGTGACC	0.542000														62			20		0	0	0.001523	0	0
ETV6	2120	broad.mit.edu	37	12	12022745	12022745	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr12:12022745C>T	uc001qzz.3	+	4	1125	c.851C>T	c.(850-852)tCc>tTc	p.S284F	ETV6_uc001raa.1_Missense_Mutation_p.S77F	NM_001987	NP_001978	P41212	ETV6_HUMAN	Homo sapiens ets variant 6 (ETV6), mRNA.	284						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CCCCGGCACTCCGTGGATTTC	0.612000			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""									39			8		0	0	0.004482	0	0
PRRG3	79057	broad.mit.edu	37	X	150869197	150869197	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chrX:150869197C>T	uc022cgt.1	+	3	437	c.388C>T	c.(388-390)Ccc>Tcc	p.P130S	PRRG3_uc004few.2_Missense_Mutation_p.P130S	NM_024082	NP_076987	Q9BZD7	TMG3_HUMAN	Homo sapiens proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) (PRRG3), transcript variant 1, mRNA.	130						extracellular region|integral to membrane	calcium ion binding	p.P130H(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					GCACACCCTCCCCCGGGTCAT	0.652000														22			49		0	0	0.003610	0	0
GPR112	139378	broad.mit.edu	37	X	135430935	135430935	+	Silent	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chrX:135430935C>T	uc004ezu.1	+	5	5361	c.5070C>T	c.(5068-5070)tcC>tcT	p.S1690S	GPR112_uc010nsb.1_Silent_p.S1485S|GPR112_uc010nsc.1_Silent_p.S1457S	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1690					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.S1690F(1)		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)					CTATTTCCTCCATTCCAAAGA	0.448000														38			57		0	0	0.003610	0	0
CLSTN3	9746	broad.mit.edu	37	12	7288854	7288854	+	Silent	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr12:7288854C>T	uc001qss.3	+	4	1369	c.831C>T	c.(829-831)ttC>ttT	p.F277F	CLSTN3_uc001qsr.3_Silent_p.F265F	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	Homo sapiens calsyntenin 3 (CLSTN3), mRNA.	265					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						TGGCTTTGTTCCCTGGTATCC	0.557000														40			13		0	0	0.002450	0	0
TTN	7273	broad.mit.edu	37	2	179485033	179485033	+	Silent	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr2:179485033G>A	uc021vsy.1	-	196	38736	c.38511C>T	c.(38509-38511)ttC>ttT	p.F12837F	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.F6532F|TTN_uc021vta.1_Silent_p.F6465F|TTN_uc021vtb.1_Silent_p.F6340F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13764	Ig-like 85.						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)			CAGCGTCATCGAACTCAGTGA	0.438000														80			19		0	0	0.006122	0	0
THBS2	7058	broad.mit.edu	37	6	169620354	169620354	+	Silent	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr6:169620354C>T	uc003qwt.3	-	21	3698	c.3450G>A	c.(3448-3450)ctG>ctA	p.L1150L		NM_003247	NP_003238	P35442	TSP2_HUMAN	Homo sapiens thrombospondin 2 (THBS2), mRNA.	1150	TSP C-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CAAATAGACCCAGCCGCCCGC	0.463000														64			32		0	0	0.002836	0	0
GPR98	84059	broad.mit.edu	37	5	89924433	89924433	+	Silent	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr5:89924433G>A	uc003kju.3	+	7	1389	c.1293G>A	c.(1291-1293)gcG>gcA	p.A431A	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	431					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)		ATGTCTCTGCGAATTGGGTGT	0.418000														41			25		0	0	0.006320	0	0
CMYA5	202333	broad.mit.edu	37	5	79095423	79095423	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr5:79095423C>T	uc003kgc.3	+	12	12266	c.12194C>T	c.(12193-12195)tCt>tTt	p.S4065F		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	4065	B30.2/SPRY.					perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CCCCCGGATTCTGTAAGGCAC	0.468000														11			7		0	0	0.003080	0	0
OR1D2	4991	broad.mit.edu	37	17	2996152	2996152	+	Silent	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr17:2996152G>A	uc010vrb.2	-	0	139	c.139C>T	c.(139-141)Ctg>Ttg	p.L47L		NM_002548	NP_002539	P34982	OR1D2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily D, member 2 (OR1D2), mRNA.	47					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	p.I46I(1)		kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						CTGATGGCCAGGATGATGAGC	0.547000														103			22		0	0	0.002299	0	0
CNTN6	27255	broad.mit.edu	37	3	1269596	1269596	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr3:1269596C>T	uc003boz.3	+	3	544	c.277C>T	c.(277-279)Caa>Taa	p.Q93*	CNTN6_uc010hbo.2_Nonsense_Mutation_p.Q88*|CNTN6_uc011asj.2_Nonsense_Mutation_p.Q21*|CNTN6_uc003bpa.3_Nonsense_Mutation_p.Q93*	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	93	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)		CCACACAGATCAAGATATTGG	0.448000														64			23		0	0	0.002780	0	0
TPTE	7179	broad.mit.edu	37	21	10996130	10996130	+	RNA	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr21:10996130C>T	uc002yis.1	-	11		c.2056G>A						P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 2, mRNA.						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CACCATAAATCCACCAATACC	0.388000														49			6		0	0	0.003080	0	0
JAM2	58494	broad.mit.edu	37	21	27071073	27071073	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr21:27071073G>A	uc002ylp.1	+	4	1024	c.479G>A	c.(478-480)gGg>gAg	p.G160E	JAM2_uc011ace.1_Missense_Mutation_p.G160E|JAM2_uc002ylq.1_Non-coding_Transcript|JAM2_uc011acf.1_Missense_Mutation_p.G124E	NM_021219	NP_067042	P57087	JAM2_HUMAN	Homo sapiens junctional adhesion molecule 2 (JAM2), mRNA.	160	Ig-like C2-type.				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						GACAAAGAAGGGAATCCAGCT	0.468000														25			8		0	0	0.003080	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12862115	12862115	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr17:12862115C>A	uc002gnr.4	+	15	1751	c.1424C>A	c.(1423-1425)cCa>cAa	p.P475Q	ARHGAP44_uc010vvk.2_Missense_Mutation_p.P475Q|ARHGAP44_uc010vvl.2_Missense_Mutation_p.P475Q|ARHGAP44_uc002gns.4_Missense_Mutation_p.P275Q|ARHGAP44_uc010vvm.2_Missense_Mutation_p.P475Q|ARHGAP44_uc010vvn.2_Non-coding_Transcript|ARHGAP44_uc002gnt.1_Missense_Mutation_p.P198Q	NM_014859	NP_055674	Q17R89	RHG44_HUMAN	Homo sapiens Rho GTPase activating protein 44 (ARHGAP44), mRNA.	475					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						ATGCCCTCCCCAGACATGGAC	0.542000														12			7		1.06961e-07	1.83237e-07	0.003080	1	0
TAF7L	54457	broad.mit.edu	37	X	100547822	100547822	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chrX:100547822G>A	uc004ehb.3	-	0	238	c.212C>T	c.(211-213)gCc>gTc	p.A71V	TAF7L_uc004ehc.2_5'Flank	NM_024885	NP_001161946	Q5H9L4	TAF7L_HUMAN	Homo sapiens TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa (TAF7L), transcript variant 1, mRNA.	71					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding	p.S70S(1)		NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						AGCAGCCTGGGCGCTGCTGTC	0.572000														24			44		0	0	0.003214	0	0
PYGM	5837	broad.mit.edu	37	11	64521136	64521136	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr11:64521136G>A	uc001oax.4	-	10	2075	c.1258C>T	c.(1258-1260)Cca>Tca	p.P420S	PYGM_uc001oay.4_Missense_Mutation_p.P332S	NM_005609	NP_005600	P11217	PYGM_HUMAN	Homo sapiens phosphorylase, glycogen, muscle (PYGM), transcript variant 1, mRNA.	420					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	ACGTCCCCTGGGAATGCGGCC	0.687000														10			4		0	0	0.001168	0	0
DLK2	65989	broad.mit.edu	37	6	43418701	43418701	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr6:43418701C>T	uc003ova.3	-	5	937	c.728G>A	c.(727-729)gGt>gAt	p.G243D	DLK2_uc003ovb.3_Missense_Mutation_p.G243D	NM_023932	NP_996262	Q6UY11	DLK2_HUMAN	Homo sapiens delta-like 2 homolog (Drosophila) (DLK2), transcript variant 1, mRNA.	243	EGF-like 6; calcium-binding (Potential).					integral to membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GGTCTTGCCACCATAGCCACT	0.637000														65			14		0	0	0.003163	0	0
COL12A1	1303	broad.mit.edu	37	6	75884849	75884849	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr6:75884849C>T	uc021zbv.1	-	11	2650	c.2615G>A	c.(2614-2616)gGa>gAa	p.G872E	COL12A1_uc021zbw.1_Intron|COL12A1_uc003phs.3_Missense_Mutation_p.G872E|COL12A1_uc003pht.3_Intron	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	872	Fibronectin type-III 5.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TTCCTTCAATCCCTGCAGCAC	0.502000														88			23		0	0	0.003330	0	0
GAD1	2571	broad.mit.edu	37	2	171702018	171702018	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr2:171702018G>T	uc002ugi.3	+	7	1176	c.754G>T	c.(754-756)Ggc>Tgc	p.G252C		NM_000817	NP_000808	Q99259	DCE1_HUMAN	Homo sapiens glutamate decarboxylase 1 (brain, 67kDa) (GAD1), transcript variant GAD67, mRNA.	252					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)	GCTGACAGGGGGCGCCATATC	0.507000														42			15		1.99824e-07	3.40924e-07	0.004990	1	0
PCDHAC2	56134	broad.mit.edu	37	5	140264037	140264037	+	Silent	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr5:140264037C>T	uc003lif.2	+	0	2184	c.2184C>T	c.(2182-2184)acC>acT	p.T728T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Silent_p.T728T|PCDHAC2_uc003lid.3_Silent_p.T728T	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	736					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)			CACCGCCCACCGAGGGCGCGT	0.647000														67			17		0	0	0.006122	0	0
APOB	338	broad.mit.edu	37	2	21230600	21230600	+	Missense_Mutation	SNP	G	A	A	rs61742323	byFrequency	TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr2:21230600G>A	uc002red.3	-	25	9268	c.9140C>T	c.(9139-9141)aCg>aTg	p.T3047M		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3047					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGTGGATGCCGTGATCTCAAA	0.393000														326			92		0	0	0.003610	0	0
CHAT	1103	broad.mit.edu	37	10	50835803	50835803	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr10:50835803G>A	uc001jhz.2	+	6	1236	c.1083G>A	c.(1081-1083)tgG>tgA	p.W361*	CHAT_uc001jhv.1_Nonsense_Mutation_p.W243*|CHAT_uc001jhx.1_Nonsense_Mutation_p.W243*|CHAT_uc001jhy.1_Nonsense_Mutation_p.W243*|CHAT_uc001jia.2_Nonsense_Mutation_p.W279*|CHAT_uc010qgs.1_Nonsense_Mutation_p.W243*	NM_020549	NP_066266	P28329	CLAT_HUMAN	Homo sapiens choline O-acetyltransferase (CHAT), transcript variant M, mRNA.	361					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	GGAGCGAGTGGGCCGAGGCCA	0.577000														27			6		0	0	0.001984	0	0
ZNF207	7756	broad.mit.edu	37	17	30692381	30692381	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr17:30692381C>T	uc010csz.3	+	8	1059	c.712C>T	c.(712-714)Cct>Tct	p.P238S	ZNF207_uc002hhj.4_Missense_Mutation_p.P235S|ZNF207_uc002hhh.4_Missense_Mutation_p.P219S|ZNF207_uc002hhi.4_Missense_Mutation_p.P235S|ZNF207_uc002hhk.1_Missense_Mutation_p.P235S|ZNF207_uc002hhl.1_Non-coding_Transcript			O43670	ZN207_HUMAN	Homo sapiens zinc finger protein 207 (ZNF207), transcript variant 3, mRNA.	219						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			TCCTGGAATTCCTCCAATGAC	0.468000														45			14		0	0	0.002450	0	0
COL9A1	1297	broad.mit.edu	37	6	70966482	70966482	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr6:70966482G>A	uc003pfg.4	-	20	1651	c.1492C>T	c.(1492-1494)Cct>Tct	p.P498S	COL9A1_uc003pfe.4_Missense_Mutation_p.P71S|COL9A1_uc003pff.4_Missense_Mutation_p.P255S	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	498	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						GGTGCACCAGGAAGACCCTGA	0.403000														30			8		0	0	0.006214	0	0
CD207	50489	broad.mit.edu	37	2	71062730	71062730	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr2:71062730G>A	uc002shg.3	-	1	129	c.82C>T	c.(82-84)Ccc>Tcc	p.P28S		NM_015717	NP_056532	Q9UJ71	CLC4K_HUMAN	Homo sapiens CD207 molecule, langerin (CD207), mRNA.	28					defense response to virus	endocytic vesicle|integral to membrane	mannose binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						CCGGACTTGGGAGGAGGCTCT	0.577000														17			4		0	0	0.000248	0	0
PARD3B	117583	broad.mit.edu	37	2	206305171	206305171	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr2:206305171C>T	uc002var.2	+	19	3026	c.2819C>T	c.(2818-2820)tCa>tTa	p.S940L	PARD3B_uc002vao.2_Intron|PARD3B_uc002vap.2_Missense_Mutation_p.S878L|PARD3B_uc002vaq.2_Missense_Mutation_p.S871L	NM_205863	NP_689739	Q8TEW8	PAR3L_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA.	940					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GCAATTGGATCAGTGTATGAT	0.428000														65			19		0	0	0.007413	0	0
OR4K5	79317	broad.mit.edu	37	14	20389538	20389538	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr14:20389538A>T	uc010tkw.2	+	0	773	c.773A>T	c.(772-774)tAt>tTt	p.Y258F		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	258					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)		ATCTTCATCTATGTGTGGCCC	0.403000														173			28		0	0	0.007291	0	0
PFAS	5198	broad.mit.edu	37	17	8159863	8159863	+	Silent	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr17:8159863C>T	uc002gkr.3	+	7	984	c.843C>T	c.(841-843)gtC>gtT	p.V281V	PFAS_uc010vuv.2_5'UTR	NM_012393	NP_036525	O15067	PUR4_HUMAN	Homo sapiens phosphoribosylformylglycinamidine synthase (PFAS), mRNA.	281					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GAAAGGAAGTCCGATTCCTAC	0.577000														26			13		0	0	0.001855	0	0
PSEN1	5663	broad.mit.edu	37	14	73637678	73637678	+	Silent	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr14:73637678C>T	uc001xnr.3	+	3	545	c.261C>T	c.(259-261)gtC>gtT	p.V87V	PSEN1_uc001xnv.3_Silent_p.V83V|PSEN1_uc010ark.3_Silent_p.V83V|PSEN1_uc001xnt.1_Non-coding_Transcript|PSEN1_uc001xnu.3_Non-coding_Transcript|PSEN1_uc001xnq.4_Silent_p.V87V	NM_000021	NP_000012	P49768	PSN1_HUMAN	Homo sapiens presenilin 1 (PSEN1), transcript variant 1, mRNA.	87					Notch receptor processing|Notch signaling pathway|amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis	Golgi membrane|Z disc|apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum	PDZ domain binding|aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		TGCTCTTTGTCCCTGTGACTC	0.498000														23			10		0	0	0.008291	0	0
SMARCB1	6598	broad.mit.edu	37	22	24143200	24143200	+	Silent	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr22:24143200C>T	uc002zyd.3	+	3	612	c.405C>T	c.(403-405)gcC>gcT	p.A135A	SMARCB1_uc002zyg.2_Silent_p.A144A|SMARCB1_uc011ajb.1_Silent_p.A135A|SMARCB1_uc002zya.3_Silent_p.A144A|SMARCB1_uc002zyb.3_Silent_p.A144A|SMARCB1_uc002zyc.3_Silent_p.A135A|SMARCB1_uc002zye.1_Intron|SMARCB1_uc002zyf.1_Intron|SMARCB1_uc010gue.1_Intron	NM_001007468	NP_001007469	Q12824	SNF5_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 (SMARCB1), transcript variant 2, mRNA.	144	DNA-binding (Potential).				DNA integration|cell cycle|chromatin remodeling|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleolus|nucleoplasm	p53 binding	p.?(5)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				ACTTAGATGCCGTGCCATGCT	0.572000			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid								27			10		0	0	0.006214	0	0
COL3A1	1281	broad.mit.edu	37	2	189873692	189873692	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr2:189873692C>T	uc002uqj.1	+	47	3685	c.3568C>T	c.(3568-3570)Cct>Tct	p.P1190S		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	1190	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			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)	TCCTGGACCTCCTGGTGCCCC	0.557000														44			10		0	0	0.000978	0	0
SCN5A	6331	broad.mit.edu	37	3	38646304	38646304	+	Silent	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr3:38646304C>T	uc021wvo.1	-	9	1486	c.1434G>A	c.(1432-1434)agG>agA	p.R478R	SCN5A_uc021wvk.1_Silent_p.R478R|SCN5A_uc021wvl.1_Silent_p.R478R|SCN5A_uc021wvm.1_Silent_p.R478R|SCN5A_uc021wvn.1_Silent_p.R478R|SCN5A_uc021wvp.1_Silent_p.R478R|SCN5A_uc021wvq.1_Silent_p.R478R|SCN5A_uc021wvr.1_Silent_p.R478R|SCN5A_uc021wvs.1_Silent_p.R478R|SCN5A_uc021wvt.1_Silent_p.R478R|SCN5A_uc021wvu.1_Silent_p.R478R|SCN5A_uc021wvv.1_Silent_p.R478R|SCN5A_uc021wvj.1_Silent_p.R344R|SCN5A_uc021wvi.1_Silent_p.R344R|SCN5A_uc021wvw.1_Silent_p.R89R	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	478					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)	TCCGTTTTCTCCTCTTGCTTC	0.557000														28			9		0	0	0.004482	0	0
CEP89	84902	broad.mit.edu	37	19	33406376	33406376	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr19:33406376C>T	uc002nty.3	-	13	1521	c.1432G>A	c.(1432-1434)Ggc>Agc	p.G478S	CEP89_uc002ntx.3_Missense_Mutation_p.G231S|CEP89_uc010edg.3_Non-coding_Transcript	NM_032816	NP_116205	Q96ST8	CEP89_HUMAN	Homo sapiens centrosomal protein 89kDa (CEP89), mRNA.	478						centrosome|spindle pole				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						TTTTCCTGGCCGTGGGTTTTT	0.453000														28			7		0	0	0.006214	0	0
FXYD4	53828	broad.mit.edu	37	10	43870072	43870072	+	Missense_Mutation	SNP	G	A	A	rs150156235	byFrequency	TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr10:43870072G>A	uc001jaq.1	+	4	414	c.82G>A	c.(82-84)Gat>Aat	p.D28N		NM_001184963	NP_001171892	P59646	FXYD4_HUMAN	Homo sapiens FXYD domain containing ion transport regulator 4 (FXYD4), transcript variant 2, mRNA.	28						integral to membrane				NS(1)|large_intestine(1)|lung(3)	5						CAATAAAGACGATCCCTTCTA	0.522000														98			25		0	0	0.002096	0	0
SIN3A	25942	broad.mit.edu	37	15	75684776	75684776	+	Silent	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr15:75684776G>A	uc002bai.3	-	14	2917	c.2658C>T	c.(2656-2658)ttC>ttT	p.F886F	SIN3A_uc002baj.3_Silent_p.F886F|SIN3A_uc010uml.2_Silent_p.F886F	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	Homo sapiens SIN3 transcription regulator homolog A (yeast) (SIN3A), transcript variant 2, mRNA.	886					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex|nucleolus	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						TGTTGACATAGAAGAGGTTGT	0.443000														46			15		0	0	0.002450	0	0
TLL1	7092	broad.mit.edu	37	4	166914025	166914025	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr4:166914025G>A	uc003irh.2	+	2	997	c.350G>A	c.(349-351)aGa>aAa	p.R117K	TLL1_uc021xud.1_Missense_Mutation_p.R117K|TLL1_uc011cjn.2_Missense_Mutation_p.R117K|TLL1_uc011cjo.2_5'UTR	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	117					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)		AGGATAAGAAGAATTGGCTTT	0.368000														35			8		0	0	0.006214	0	0
ATP8B4	79895	broad.mit.edu	37	15	50189680	50189680	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr15:50189680C>T	uc001zxu.3	-	22	2648	c.2506G>A	c.(2506-2508)Gaa>Aaa	p.E836K	ATP8B4_uc010ber.3_Missense_Mutation_p.E709K|ATP8B4_uc010ufd.2_Missense_Mutation_p.E646K|ATP8B4_uc010ufe.2_Non-coding_Transcript|ATP8B4_uc001zxv.1_Missense_Mutation_p.E134K	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	836					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TGCAATCCTTCCTGGCCGCTG	0.448000														68			20		0	0	0.001523	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37419179	37419179	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr10:37419179C>T	uc021ppc.1	+	2	314	c.215C>T	c.(214-216)tCt>tTt	p.S72F	ANKRD30A_uc001iza.1_Missense_Mutation_p.S72F	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	128						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CTGATAGATTCTGGTGCCGAT	0.368000														35			10		0	0	0.006214	0	0
ELTD1	64123	broad.mit.edu	37	1	79387394	79387394	+	Silent	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr1:79387394C>T	uc001diq.4	-	8	1317	c.1161G>A	c.(1159-1161)gaG>gaA	p.E387E		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	387	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GCTCACAGCCCTCTGAAGACC	0.428000														29			13		0	0	0.006122	0	0
ASTN1	460	broad.mit.edu	37	1	176905442	176905442	+	Silent	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr1:176905442C>T	uc001glc.3	-	14	2654	c.2442G>A	c.(2440-2442)gtG>gtA	p.V814V	ASTN1_uc001glb.1_Silent_p.V814V|ASTN1_uc001gld.1_Silent_p.V814V|ASTN1_uc009wwx.1_Silent_p.V814V	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	822					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						TGTGGTACATCACAGACCGGA	0.517000														33			4		0	0	0.000248	0	0
ATP8A2	51761	broad.mit.edu	37	13	26402291	26402291	+	Silent	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr13:26402291G>A	uc001uqk.3	+	27	2857	c.2715G>A	c.(2713-2715)caG>caA	p.Q905Q	ATP8A2_uc010tdi.2_Intron|ATP8A2_uc010tdj.2_Non-coding_Transcript|ATP8A2_uc010aaj.1_Silent_p.Q455Q	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8A, member 2 (ATP8A2), mRNA.	865					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TTTCTGGGCAGATTTTATTTG	0.373000														111			24		0	0	0.008361	0	0
DSCAML1	57453	broad.mit.edu	37	11	117299431	117299431	+	Silent	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr11:117299431G>A	uc001prh.1	-	32	5957	c.5955C>T	c.(5953-5955)ccC>ccT	p.P1985P		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	1925	Pro-rich.				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)		AGGCCTCACGGGGTGGGACCA	0.632000														2			6		0	0	0.003080	0	0
RNF31	55072	broad.mit.edu	37	14	24624861	24624861	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr14:24624861C>T	uc001wmn.1	+	13	2702	c.2453C>T	c.(2452-2454)cCc>cTc	p.P818L	RNF31_uc001wml.1_Missense_Mutation_p.P667L|RNF31_uc010alg.1_Missense_Mutation_p.P577L|RNF31_uc001wmo.1_Missense_Mutation_p.P285L|RNF31_uc001wmp.3_Non-coding_Transcript|RNF31_uc010alh.1_Missense_Mutation_p.P11S	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	Homo sapiens ring finger protein 31 (RNF31), mRNA.	818					CD40 signaling pathway|T cell receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination	CD40 receptor complex|LUBAC complex|internal side of plasma membrane	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		GCAACTTGTCCCCAGTGTCAC	0.512000														54			18		0	0	0.001882	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173853540	173853540	+	Silent	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr2:173853540C>T	uc002uhv.4	+	13	1534	c.1347C>T	c.(1345-1347)gaC>gaT	p.D449D	RAPGEF4_uc002uhw.4_Silent_p.D305D|RAPGEF4_uc010zec.1_Silent_p.D296D|RAPGEF4_uc010zed.1_Silent_p.D278D|RAPGEF4_uc010zee.1_Silent_p.D296D|RAPGEF4_uc010fqo.2_Silent_p.D278D|RAPGEF4_uc010zef.1_Silent_p.D229D|RAPGEF4_uc010zeg.1_Silent_p.D276D|RAPGEF4_uc010fqp.1_Silent_p.D229D|RAPGEF4_uc010zeh.1_Silent_p.D229D	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 4 (RAPGEF4), transcript variant 1, mRNA.	449					G-protein coupled receptor protein signaling pathway|blood coagulation|energy reserve metabolic process|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity|cAMP binding|cAMP-dependent protein kinase regulator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TAAGAGTAGACAAGGAGGATT	0.438000														45			12		0	0	0.001368	0	0
NTNG1	22854	broad.mit.edu	37	1	107691307	107691307	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr1:107691307A>G	uc001dvh.4	+	1	810	c.92A>G	c.(91-93)gAt>gGt	p.D31G	NTNG1_uc001dvc.4_Missense_Mutation_p.D31G|NTNG1_uc010out.2_Missense_Mutation_p.D31G|NTNG1_uc001dvf.4_Missense_Mutation_p.D31G|NTNG1_uc001dvd.1_Missense_Mutation_p.D31G	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	Homo sapiens netrin G1 (NTNG1), transcript variant 1, mRNA.	31					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)		GGACATTATGATTTGTGTAAG	0.438000														67			20		0	0	0.008871	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32726774	32726774	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr6:32726774C>T	uc003obz.2	-	2	582	c.499G>A	c.(499-501)Gcc>Acc	p.A167T	HLA-DQB2_uc003oby.4_Missense_Mutation_p.A167T	NM_001198858	NP_001185787	Q5SR06	Q5SR06_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ beta 2 (HLA-DQB2), mRNA.	167					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	MHC class II protein complex|integral to membrane		p.A167T(2)		endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						ACAACACCGGCTGTCTCCTCC	0.542000														44			5		0	0	0.003080	0	0
DNAH14	127602	broad.mit.edu	37	1	225140444	225140444	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr1:225140444C>T	uc001how.2	+	1	255	c.40C>T	c.(40-42)Caa>Taa	p.Q14*	DNAH14_uc001hou.4_Nonsense_Mutation_p.Q14*|DNAH14_uc001hot.4_Nonsense_Mutation_p.Q14*|DNAH14_uc001hov.4_Nonsense_Mutation_p.Q14*	NM_001373	NP_001364	Q0VDD8	DYH14_HUMAN	Homo sapiens dynein, axonemal, heavy chain 14 (DNAH14), transcript variant 1, mRNA.	191					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						AACTGAAAATCAAGAGATGGA	0.308000														12			6		0	0	0.001984	0	0
ARHGAP28	79822	broad.mit.edu	37	18	6859866	6859866	+	Silent	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr18:6859866G>A	uc002knc.3	+	4	3751	c.540G>A	c.(538-540)ggG>ggA	p.G180G	ARHGAP28_uc002kne.3_Silent_p.G73G|ARHGAP28_uc010wzi.2_Silent_p.G55G|ARHGAP28_uc002knf.3_Silent_p.G64G	NM_001010000	NP_001010000	B4DXL2	B4DXL2_HUMAN	Homo sapiens Rho GTPase activating protein 28 (ARHGAP28), mRNA.	55					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				ATAAAGAAGGGAGTTTTGCGG	0.433000														113			24		0	0	0.007291	0	0
CYP2A13	1553	broad.mit.edu	37	19	41597771	41597771	+	Silent	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr19:41597771C>T	uc002opt.3	+	4	798	c.789C>T	c.(787-789)tcC>tcT	p.S263S		NM_000766	NP_000757	Q16696	CP2AD_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 13 (CYP2A13), mRNA.	263					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	ATCCCAATTCCCCACGGGACT	0.582000														40			10		0	0	0.001368	0	0
MYOF	26509	broad.mit.edu	37	10	95147614	95147614	+	Silent	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr10:95147614C>T	uc001kin.3	-	18	1761	c.1638G>A	c.(1636-1638)gaG>gaA	p.E546E	MYOF_uc001kio.3_Silent_p.E533E	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	546					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GTGGTGTCTTCTCAAGAAAAG	0.433000														84			25		0	0	0.004656	0	0
OR1F1	4992	broad.mit.edu	37	16	3255038	3255038	+	Silent	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr16:3255038C>T	uc010uwu.2	+	0	792	c.792C>T	c.(790-792)tcC>tcT	p.S264S		NM_012360	NP_036492	O43749	OR1F1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily F, member 1 (OR1F1), mRNA.	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						ACCCTCTGTCCTCCCACTCAG	0.483000														97			26		0	0	0.007291	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107423285	107423285	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr2:107423285C>T	uc002tdq.3	-	5	1558	c.1439G>A	c.(1438-1440)gGg>gAg	p.G480E	ST6GAL2_uc002tdr.3_Missense_Mutation_p.G480E	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	480					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GTGGTACGCCCCGAGGGTGCA	0.597000														37			6		0	0	0.001168	0	0
LECT1	11061	broad.mit.edu	37	13	53298220	53298220	+	Missense_Mutation	SNP	C	T	T	rs881482		TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr13:53298220C>T	uc001vhf.2	-	3	491	c.380G>A	c.(379-381)gGa>gAa	p.G127E	LECT1_uc001vhg.2_Missense_Mutation_p.G127E|LECT1_uc001vhh.2_Intron	NM_007015	NP_008946	O75829	LECT1_HUMAN	Homo sapiens leukocyte cell derived chemotaxin 1 (LECT1), transcript variant 1, mRNA.	127	BRICHOS.				cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		CTTCTCTCCTCCAGCAAAACG	0.448000														27			4		0	0	0.000602	0	0
BFSP2	8419	broad.mit.edu	37	3	133167448	133167448	+	Silent	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr3:133167448C>T	uc003epn.1	+	2	826	c.688C>T	c.(688-690)Ctg>Ttg	p.L230L	BC007984_uc003epo.3_Intron	NM_003571	NP_003562	Q13515	BFSP2_HUMAN	Homo sapiens beaded filament structural protein 2, phakinin (BFSP2), mRNA.	230	Rod.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						AATAGAAAGTCTGAAAGAAGA	0.448000														30			6		0	0	0.001168	0	0
OR6V1	346517	broad.mit.edu	37	7	142749462	142749462	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr7:142749462G>A	uc011ksv.2	+	0	25	c.25G>A	c.(25-27)Gaa>Aaa	p.E9K		NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily V, member 1 (OR6V1), mRNA.	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S8S(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					CCAGCCCTCCGAATTTGTCCT	0.517000														138			31		0	0	0.004289	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41055889	41055889	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr5:41055889G>A	uc003jmj.4	-	9	1478	c.988C>T	c.(988-990)Cga>Tga	p.R330*	HEATR7B2_uc003jmi.4_Intron	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	330							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						ATTCCCACTCGAATGGCTTCA	0.413000														55			17		0	0	0.007413	0	0
FCAR	2204	broad.mit.edu	37	19	55396704	55396704	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr19:55396704G>A	uc002qhr.1	+	2	325	c.128G>A	c.(127-129)gGa>gAa	p.G43E	FCAR_uc021vbp.1_Non-coding_Transcript|FCAR_uc002qhq.3_Missense_Mutation_p.G43E|FCAR_uc002qhs.1_Non-coding_Transcript|FCAR_uc002qht.1_Missense_Mutation_p.G16E|FCAR_uc010esi.1_Missense_Mutation_p.G16E|FCAR_uc002qhu.1_Missense_Mutation_p.G43E|FCAR_uc002qhv.1_Missense_Mutation_p.G43E|FCAR_uc002qhw.1_Missense_Mutation_p.G31E|FCAR_uc002qhx.1_Missense_Mutation_p.G31E|FCAR_uc002qhy.1_Missense_Mutation_p.G31E|FCAR_uc002qhz.1_Missense_Mutation_p.G31E|FCAR_uc002qia.1_Intron	NM_002000	NP_001991	P24071	FCAR_HUMAN	Homo sapiens Fc fragment of IgA, receptor for (FCAR), transcript variant 1, mRNA.	43	Ig-like C2-type 1.				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)		CCCTTGGATGGATCTGTGAAA	0.502000														33			5		0	0	0.000602	0	0
COL4A5	1287	broad.mit.edu	37	X	107841970	107841970	+	Silent	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chrX:107841970G>A	uc022ccg.1	+	24	2020	c.1818G>A	c.(1816-1818)ggG>ggA	p.G606G	COL4A5_uc004enz.1_Silent_p.G606G|COL4A5_uc004eob.1_Silent_p.G214G	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	606	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GTCCCCCTGGGAACCCAGGTT	0.483000									Alport syndrome with Diffuse Leiomyomatosis					20			50		0	0	0.003610	0	0
RELN	5649	broad.mit.edu	37	7	103162552	103162552	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr7:103162552G>A	uc022ajr.1	-	47	7745	c.7585C>T	c.(7585-7587)Cag>Tag	p.Q2529*	RELN_uc022ajq.1_Nonsense_Mutation_p.Q2529*|RELN_uc010liz.3_Nonsense_Mutation_p.Q2529*	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	2529					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGCCAGTTCTGACTGGATGGA	0.542000														25			34		0	0	0.003271	0	0
OR10G3	26533	broad.mit.edu	37	14	22038677	22038677	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr14:22038677G>A	uc010tmb.2	-	0	199	c.199C>T	c.(199-201)Ctc>Ttc	p.L67F		NM_001005465	NP_001005465	Q8NGC4	O10G3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 3 (OR10G3), mRNA.	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L67L(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		ATGACTGAGAGAACACCAAGA	0.483000														27			6		0	0	0.001168	0	0
OR4K2	390431	broad.mit.edu	37	14	20345323	20345323	+	Silent	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr14:20345323G>A	uc001vwh.1	+	0	897	c.897G>A	c.(895-897)agG>agA	p.R299R		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R299S(2)		NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TAGCCATGAGGAAACTGAAAA	0.343000														61			8		0	0	0.004482	0	0
PRPF38B	55119	broad.mit.edu	37	1	109242118	109242118	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr1:109242118G>A	uc001dvv.4	+	5	1399	c.1117G>A	c.(1117-1119)Gaa>Aaa	p.E373K	PRPF38B_uc001dvw.4_Missense_Mutation_p.E262K|PRPF38B_uc010ouz.2_Missense_Mutation_p.E176K	NM_018061	NP_060531	Q5VTL8	PR38B_HUMAN	Homo sapiens PRP38 pre-mRNA processing factor 38 (yeast) domain containing B (PRPF38B), transcript variant 1, mRNA.	373	Arg-rich.				RNA splicing|mRNA processing	spliceosomal complex				NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		ctatgataaggaaagaggaaa	0.433000														2			3		0	0	0.004672	0	0
SCNN1G	6340	broad.mit.edu	37	16	23200933	23200933	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr16:23200933A>C	uc002dlm.1	+	2	698	c.559A>C	c.(559-561)Att>Ctt	p.I187L		NM_001039	NP_001030	P51170	SCNNG_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	187					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)	CGGTAGCATCATTCACAAGGC	0.502000														121			41		0	0	0.003610	0	0
OPRK1	4986	broad.mit.edu	37	8	54142118	54142118	+	Silent	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr8:54142118G>A	uc003xrh.1	-	2	1257	c.882C>T	c.(880-882)atC>atT	p.I294I	OPRK1_uc022aup.1_Silent_p.I174I|OPRK1_uc003xri.1_Silent_p.I294I|OPRK1_uc010lyc.1_Silent_p.I205I	NM_000912	NP_000903	P41145	OPRK_HUMAN	Homo sapiens opioid receptor, kappa 1 (OPRK1), mRNA.	294					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding	p.L295M(1)		NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	CCTCCACCAGGATGAATATGT	0.557000														19			8		0	0	0.004482	0	0
PLXNA4	91584	broad.mit.edu	37	7	132174134	132174134	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr7:132174134C>T	uc003vra.4	-	2	1517	c.1288G>A	c.(1288-1290)Gac>Aac	p.D430N	PLXNA4_uc003vrc.2_Missense_Mutation_p.D430N|PLXNA4_uc003vrb.3_Missense_Mutation_p.D430N	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	430	Sema.					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						GTCATGCGGTCCCTGTCCTCC	0.532000														30			27		0	0	0.004656	0	0
KIAA1614	57710	broad.mit.edu	37	1	180886115	180886115	+	Silent	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr1:180886115C>T	uc001gok.2	+	1	943	c.876C>T	c.(874-876)tcC>tcT	p.S292S		NM_020950	NP_066001	Q5VZ46	K1614_HUMAN	Homo sapiens KIAA1614 (KIAA1614), mRNA.	292										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GTGTCTTGTCCCTGTCTGATC	0.637000														63			15		0	0	0.003163	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140782574	140782574	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr5:140782574C>T	uc003lkh.2	+	0	55	c.55C>T	c.(55-57)Ctc>Ttc	p.L19F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc011dax.2_Missense_Mutation_p.L19F	NM_018921	NP_061744	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 9 (PCDHGA9), transcript variant 1, mRNA.	19					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)			GCTATGCTCGCTCCTGGGGAT	0.537000														20			9		0	0	0.006214	0	0
ACE	1636	broad.mit.edu	37	17	61558977	61558977	+	Silent	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr17:61558977C>T	uc002jau.2	+	6	1030	c.996C>T	c.(994-996)tcC>tcT	p.S332S	ACE_uc010wpi.2_Silent_p.S332S|ACE_uc010ddu.2_Silent_p.S149S	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	332	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	TCTTCACCTCCCTGGAGCTCT	0.677000														28			10		0	0	0.001368	0	0
PI4KA	5297	broad.mit.edu	37	22	21147483	21147483	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr22:21147483C>T	uc002zsz.4	-	18	2413	c.2152G>A	c.(2152-2154)Gtg>Atg	p.V718M		NM_058004	NP_477352	P42356	PI4KA_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA.	718					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			ATACTCACCACAGCTATTACA	0.373000														20			4		0	0	0.000602	0	0
OR51Q1	390061	broad.mit.edu	37	11	5444160	5444160	+	Silent	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr11:5444160C>T	uc010qzd.2	+	0	820	c.730C>T	c.(730-732)Ctg>Ttg	p.L244L	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.	244					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)		CAATAACTGCCTGTCCCACAT	0.498000														65			20		0	0	0.001882	0	0
LPA	4018	broad.mit.edu	37	6	161022055	161022055	+	Silent	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr6:161022055G>A	uc003qtl.3	-	19	3141	c.3021C>T	c.(3019-3021)gtC>gtT	p.V1007V		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3515	Kringle 9.				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)	ACTCCCACCTGACACTGGGAT	0.483000														22			15		0	0	0.003163	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14439236	14439236	+	RNA	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr21:14439236G>A	uc002yja.4	+	9		c.2754G>A								Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		AAAAATTAGGGAAGAATTAGG	0.294000														21			5		0	0	0.001168	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1643049	1643049	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr11:1643049A>C	uc009ycy.1	-	1	257	c.170T>G	c.(169-171)gTc>gGc	p.V57G	MOB2_uc001ltq.2_Intron	NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN	Homo sapiens keratin associated protein 5-4 (KRTAP5-4), mRNA.	152	9 X 4 AA repeats of C-C-X-P.					keratin filament		p.V92G(2)		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)		CCCACAGGAGACACAGCCCCC	0.682000														47			4		0	0	0.004482	0	0
TMC5	79838	broad.mit.edu	37	16	19451758	19451758	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr16:19451758G>A	uc002dgc.4	+	2	1147	c.398G>A	c.(397-399)cGa>cAa	p.R133Q	TMC5_uc010vaq.2_Missense_Mutation_p.R133Q|TMC5_uc002dgb.4_Missense_Mutation_p.R133Q|TMC5_uc010var.2_Missense_Mutation_p.R133Q	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	133						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						GGATCTCAACGAAATCCTGAT	0.498000														134			39		0	0	0.006999	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140736378	140736378	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr5:140736378T>G	uc003ljq.2	+	0	1611	c.1611T>G	c.(1609-1611)agT>agG	p.S537R	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljp.1_Missense_Mutation_p.S537R	NM_018917	NP_061740	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA.	539	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R537P(1)|p.R537Q(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)			CCAGTGACAGTGGAGACCCTC	0.512000														86			28		0	0	0.008361	0	0
PDP2	57546	broad.mit.edu	37	16	66918600	66918600	+	Missense_Mutation	SNP	G	C	C	rs146518082		TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr16:66918600G>C	uc021tjw.1	+	0	413	c.413G>C	c.(412-414)gGc>gCc	p.G138A	PDP2_uc002eqk.2_Missense_Mutation_p.G138A	NM_020786	NP_065837	Q9P2J9	PDP2_HUMAN	Homo sapiens pyruvate dehyrogenase phosphatase catalytic subunit 2 (PDP2), mRNA.	138					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		CTGATGTTTGGCATCTTCGAT	0.567000														37			18		0	0	0.008871	0	0
TNR	7143	broad.mit.edu	37	1	175355309	175355309	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr1:175355309C>T	uc001gkp.1	-	5	1717	c.1636G>A	c.(1636-1638)Ggg>Agg	p.G546R	TNR_uc009wwu.1_Missense_Mutation_p.G546R	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	546	Fibronectin type-III 3.				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)					GTGGTCCTCCCACCTTCCCCG	0.602000														15			4		0	0	0.000602	0	0
ARSF	416	broad.mit.edu	37	X	3002495	3002495	+	Silent	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chrX:3002495G>A	uc022brz.1	+	5	754	c.618G>A	c.(616-618)ggG>ggA	p.G206G	ARSF_uc004cre.2_Silent_p.G206G|ARSF_uc004crf.2_Silent_p.G206G	NM_001201538	NP_001188467	P54793	ARSF_HUMAN	Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA.	206						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TAACCTTTGGGAAGCTGAGCG	0.547000														14			34		0	0	0.002096	0	0
CACNA1B	774	broad.mit.edu	37	9	141015994	141015994	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr9:141015994G>A	uc004cog.3	+	45	6702	c.6557G>A	c.(6556-6558)aGg>aAg	p.R2186K	CACNA1B_uc022bqn.1_Intron|CACNA1B_uc004coi.3_Missense_Mutation_p.R1400K	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	2188					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	p.G2185S(2)		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)	GGTGGGCGGAGGCAGCTCCCC	0.637000														26			6		0	0	0.001984	0	0
LRRC37A2	474170	broad.mit.edu	37	17	45127107	45127107	+	Missense_Mutation	SNP	C	G	G	rs147409399	by1000genomes	TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr17:45127107C>G	uc010wkj.1	+	1	659	c.305C>G	c.(304-306)aCc>aGc	p.T102S	ARL17_uc021tzb.1_Intron|DQ597730_uc010wkl.2_Non-coding_Transcript			A6NM11	L37A2_HUMAN	Homo sapiens cDNA FLJ42521 fis, clone BRACE3000973.	1238						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		CCTTCGTTCACCCAAGAGCAT	0.592000														58			3		0	0	0.004672	0	0
NAP1L2	4674	broad.mit.edu	37	X	72433604	72433604	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chrX:72433604T>G	uc004ebi.3	-	0	1107	c.725A>C	c.(724-726)gAt>gCt	p.D242A		NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	Homo sapiens nucleosome assembly protein 1-like 2 (NAP1L2), mRNA.	242					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					TAGCCAAAAATCAGGAATTCC	0.408000														15			15		0	0	0.004990	0	0
IFT122	55764	broad.mit.edu	37	3	129202332	129202332	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr3:129202332C>T	uc003eml.3	+	15	2017	c.1811C>T	c.(1810-1812)cCa>cTa	p.P604L	IFT122_uc003emm.3_Missense_Mutation_p.P553L|IFT122_uc003emn.3_Missense_Mutation_p.P494L|IFT122_uc003emo.3_Missense_Mutation_p.P442L|IFT122_uc003emp.3_Missense_Mutation_p.P403L|IFT122_uc010htc.3_Missense_Mutation_p.P545L|IFT122_uc011bky.2_Missense_Mutation_p.P344L|IFT122_uc011bla.2_Missense_Mutation_p.P344L|IFT122_uc003emr.3_Missense_Mutation_p.P344L|IFT122_uc011bkx.1_Missense_Mutation_p.P393L|IFT122_uc011bkz.1_Non-coding_Transcript|IFT122_uc010htd.1_Missense_Mutation_p.P32L	NM_052985	NP_443711	Q9HBG6	IF122_HUMAN	Homo sapiens intraflagellar transport 122 homolog (Chlamydomonas) (IFT122), transcript variant 1, mRNA.	553					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						CCCCAGGAACCAAACGCCAAC	0.552000														45			13		0	0	0.001855	0	0
WBP11P1	441818	broad.mit.edu	37	18	30093406	30093406	+	RNA	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr18:30093406C>T	uc010dmc.3	+	0		c.1781C>T								Homo sapiens WW domain binding protein 11 pseudogene 1 (WBP11P1), non-coding RNA.																		CCCACCAGCTCCCTTGCTGAA	0.517000														27			13		0	0	0.001368	0	0
MYBPC3	4607	broad.mit.edu	37	11	47367775	47367775	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr11:47367775T>G	uc021qis.1	-	11	1128	c.1073A>C	c.(1072-1074)gAt>gCt	p.D358A	MYBPC3_uc021qir.1_Missense_Mutation_p.D11A	NM_000256	NP_000247	Q14896	MYPC3_HUMAN	Homo sapiens myosin binding protein C, cardiac (MYBPC3), mRNA.	358					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)		CTTCTTCTCATCGCGCCTCAT	0.607000														21			5		0	0	0.000602	0	0
HNF1B	6928	broad.mit.edu	37	17	36091630	36091630	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr17:36091630G>A	uc002hok.4	-	3	1222	c.1001C>T	c.(1000-1002)tCc>tTc	p.S334F	HNF1B_uc021tvu.1_Missense_Mutation_p.S104F|HNF1B_uc010wdi.2_Missense_Mutation_p.S308F|HNF1B_uc021tvv.1_Missense_Mutation_p.S334F|HNF1B_uc021tvw.1_Missense_Mutation_p.S308F|HNF1B_uc010cve.1_Missense_Mutation_p.S142F	NM_000458	NP_000449	P35680	HNF1B_HUMAN	Homo sapiens HNF1 homeobox B (HNF1B), transcript variant 1, mRNA.	334					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GTGGTGGGGGGAGCCGTGGGA	0.602000														313			90		0	0	0.003610	0	0
SPANXN2	494119	broad.mit.edu	37	X	142795341	142795341	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chrX:142795341C>T	uc004fbz.3	-	1	1091	c.337G>A	c.(337-339)Gaa>Aaa	p.E113K		NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN	Homo sapiens SPANX family, member N2 (SPANXN2), mRNA.	113								p.D112G(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TCCAGGTCTTCGTCCTCCTGT	0.532000														179			30		0	0	0.003610	0	0
SERPINA11	256394	broad.mit.edu	37	14	94914815	94914815	+	Silent	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr14:94914815G>A	uc001ydd.1	-	1	357	c.297C>T	c.(295-297)atC>atT	p.I99I		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 (SERPINA11), mRNA.	99					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		GGCCCTCCAGGATCAGAGCTG	0.622000														60			12		0	0	0.000978	0	0
SLC30A8	169026	broad.mit.edu	37	8	118159286	118159286	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr8:118159286T>G	uc003yoh.3	+	1	395	c.165T>G	c.(163-165)agT>agG	p.S55R	SLC30A8_uc010mcz.3_Missense_Mutation_p.S6R|SLC30A8_uc003yog.3_Missense_Mutation_p.S6R|SLC30A8_uc011lia.2_Missense_Mutation_p.S6R|SLC30A8_uc022bab.1_Missense_Mutation_p.S6R	NM_173851	NP_001166286	Q8IWU4	ZNT8_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 8 (SLC30A8), transcript variant 1, mRNA.	55					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			ACTGCCACAGTGGCTCCAAGC	0.502000														278			184		0	0	0.003610	0	0
GPATCH8	23131	broad.mit.edu	37	17	42512489	42512489	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr17:42512489G>A	uc002igw.2	-	4	511	c.292C>T	c.(292-294)Cgc>Tgc	p.R98C	GPATCH8_uc002igv.2_Missense_Mutation_p.R20C|GPATCH8_uc010wiz.2_Missense_Mutation_p.R20C	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	Homo sapiens G patch domain containing 8 (GPATCH8), transcript variant 1, mRNA.	98						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		AGGACACGGCGCCGTTCGGTA	0.383000														37			16		0	0	0.004990	0	0
SNTG1	54212	broad.mit.edu	37	8	51621528	51621528	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr8:51621528C>T	uc010lxy.1	+	17	1645	c.1274C>T	c.(1273-1275)gCt>gTt	p.A425V	SNTG1_uc003xqs.1_Missense_Mutation_p.A425V|SNTG1_uc010lxz.1_Missense_Mutation_p.A425V|SNTG1_uc011ldl.1_Non-coding_Transcript	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	Homo sapiens syntrophin, gamma 1 (SNTG1), mRNA.	425					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TGCTTTGATGCTGCAACAAAG	0.378000														42			8		0	0	0.008291	0	0
LPAR4	2846	broad.mit.edu	37	X	78010772	78010772	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chrX:78010772C>T	uc022bzj.1	+	0	406	c.406C>T	c.(406-408)Cgt>Tgt	p.R136C	LPAR4_uc010nme.3_Missense_Mutation_p.R136C	NM_005296	NP_005287	Q99677	LPAR4_HUMAN	Homo sapiens lysophosphatidic acid receptor 4 (LPAR4), mRNA.	136						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TAGTGTGGATCGTTTCCTGGC	0.483000														30			52		0	0	0.003610	0	0
CFH	3075	broad.mit.edu	37	1	196874358	196874358	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr1:196874358G>A	uc001gtp.3	+	2	514	c.377G>A	c.(376-378)gGa>gAa	p.G126E	CFH_uc021pgt.1_Intron|CFH_uc009wyy.3_Missense_Mutation_p.G125E|CFH_uc001gto.3_Intron	NM_001201550	NP_001188479	P08603	CFAH_HUMAN	Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.	486	Sushi 2.				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						ACAGCAGAGGGAAATTCTTCA	0.313000														48			12		0	0	0.001368	0	0
LRP2	4036	broad.mit.edu	37	2	170101310	170101310	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr2:170101310G>A	uc002ues.3	-	21	3536	c.3323C>T	c.(3322-3324)tCc>tTc	p.S1108F	LRP2_uc010zdf.1_Missense_Mutation_p.S971F	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	1108	LDL-receptor class A 10.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GTCAAGGCAGGAAGCAGGTGC	0.527000														74			28		0	0	0.006320	0	0
KDM5A	5927	broad.mit.edu	37	12	404935	404935	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr12:404935G>A	uc001qif.1	-	25	4622	c.4259C>T	c.(4258-4260)cCt>cTt	p.P1420L	KDM5A_uc021qsr.1_5'UTR	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	Homo sapiens lysine (K)-specific demethylase 5A (KDM5A), mRNA.	1420					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						GCTCTTCCGAGGTTGTTTCCT	0.408000			T	NUP98	AML									79			27		0	0	0.007291	0	0
MLF1	4291	broad.mit.edu	37	3	158317946	158317946	+	Silent	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr3:158317946C>T	uc003fcc.3	+	6	1008	c.645C>T	c.(643-645)ttC>ttT	p.F215F	MLF1_uc003fbx.3_Silent_p.F174F|MLF1_uc003fbz.3_Silent_p.F159F|MLF1_uc003fca.3_Silent_p.F159F|MLF1_uc003fcb.3_Silent_p.F184F|MLF1_uc010hvx.3_Silent_p.F116F|MLF1_uc003fby.3_Silent_p.F110F	NM_001195432	NP_001182361	P58340	MLF1_HUMAN	Homo sapiens myeloid leukemia factor 1 (MLF1), transcript variant 4, mRNA.	184					cell cycle arrest|myeloid progenitor cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein domain specific binding			large_intestine(3)	3		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)			ACCAGGAGTTCATCAATATGA	0.299000			T	NPM1	AML									74			18		0	0	0.002780	0	0
HOXB1	3211	broad.mit.edu	37	17	46607774	46607774	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr17:46607774C>T	uc002ink.1	-	0	499	c.493G>A	c.(493-495)Gaa>Aaa	p.E165K	HOXB1_uc021tzf.1_Missense_Mutation_p.E165K	NM_002144	NP_002135	P14653	HXB1_HUMAN	Homo sapiens homeobox B1 (HOXB1), mRNA.	165						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CAGGGTGTTTCCTTGTCCTCG	0.597000														25			10		0	0	0.000978	0	0
KRT75	9119	broad.mit.edu	37	12	52826938	52826938	+	Silent	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr12:52826938G>A	uc001saj.2	-	1	619	c.597C>T	c.(595-597)ctC>ctT	p.L199L		NM_004693	NP_004684	O95678	K2C75_HUMAN	Homo sapiens keratin 75 (KRT75), mRNA.	199	Linker 1.|Rod.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		AGGAATCAAAGAGGGGCTCTA	0.577000														58			19		0	0	0.001882	0	0
EHHADH	1962	broad.mit.edu	37	3	184953239	184953239	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr3:184953239G>A	uc003fpf.3	-	2	266	c.190C>T	c.(190-192)Cgt>Tgt	p.R64C	EHHADH_uc011brs.2_5'UTR	NM_001966	NP_001957	Q08426	ECHP_HUMAN	Homo sapiens enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase (EHHADH), transcript variant 1, mRNA.	64	Enoyl-CoA hydratase / isomerase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	CTGAAGCCACGAATATCAGCA	0.418000														19			7		0	0	0.006214	0	0
DACH1	1602	broad.mit.edu	37	13	72053370	72053370	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr13:72053370C>T	uc021rkj.1	-	7	2230	c.1807G>A	c.(1807-1809)Gat>Aat	p.D603N	DACH1_uc021rkk.1_Missense_Mutation_p.D455N|DACH1_uc021rkl.1_Missense_Mutation_p.D401N	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA.	653					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			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)		CTTAAAAAATCCATCTTCAGC	0.378000														46			16		0	0	0.004007	0	0
DNAH10	196385	broad.mit.edu	37	12	124268493	124268493	+	Splice_Site	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr12:124268493G>A	uc001uft.4	+	8	842	c.817_splice	c.e8-1	p.G273_splice		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	273	Stem (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)		TCACCTCTCAGGGTAAAGGCC	0.443000														12			8		0	0	0.003080	0	0
OR5H15	403274	broad.mit.edu	37	3	97887673	97887673	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr3:97887673G>A	uc011bgu.2	+	0	130	c.130G>A	c.(130-132)Ggt>Agt	p.G44S		NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 15 (OR5H15), mRNA.	44					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						GGGGAATCTTGGTCTGATTGC	0.408000														86			33		0	0	0.003610	0	0
OR2G6	391211	broad.mit.edu	37	1	248685664	248685664	+	Silent	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr1:248685664G>A	uc001ien.1	+	0	717	c.717G>A	c.(715-717)ggG>ggA	p.G239G		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA.	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	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)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGGCCTTTGGGACCTGTTCGT	0.458000														58			14		0	0	0.002450	0	0
PSMD3	5709	broad.mit.edu	37	17	38140725	38140725	+	Silent	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr17:38140725C>T	uc002htn.1	+	1	563	c.399C>T	c.(397-399)ccC>ccT	p.P133P	PSMD3_uc010wen.1_Non-coding_Transcript|PSMD3_uc010weo.1_Silent_p.P34P	NM_002809	NP_002800	O43242	PSMD3_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 3 (PSMD3), mRNA.	133					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|viral reproduction	proteasome complex	enzyme regulator activity|protein binding	p.L132L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					TTTTGCTCCCCTTCCTGGAAG	0.507000														32			8		0	0	0.003080	0	0
CYP2C19	1557	broad.mit.edu	37	10	96541593	96541593	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr10:96541593C>T	uc010qnz.2	+	4	658	c.658C>T	c.(658-660)Ccc>Tcc	p.P220S	CYP2C19_uc009xus.1_Missense_Mutation_p.P85S|CYP2C19_uc010qny.2_Missense_Mutation_p.P198S	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	220					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	CAATAATTTTCCCACTATCAT	0.274000														22			7		0	0	0.004482	0	0
BEND4	389206	broad.mit.edu	37	4	42122103	42122103	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr4:42122103G>A	uc003gwn.3	-	4	1935	c.1355C>T	c.(1354-1356)cCt>cTt	p.P452L	BEND4_uc003gwm.3_Intron|BEND4_uc011byy.1_Missense_Mutation_p.P452L	NM_207406	NP_997289	Q6ZU67	BEND4_HUMAN	Homo sapiens BEN domain containing 4 (BEND4), transcript variant 1, mRNA.	452	BEN.									NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						TGGATCCAGAGGGCGTCTTTC	0.507000														23			9		0	0	0.008291	0	0
CSMD3	114788	broad.mit.edu	37	8	113323359	113323359	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr8:113323359C>T	uc003ynu.3	-	49	7892	c.7733G>A	c.(7732-7734)gGa>gAa	p.G2578E	CSMD3_uc003yns.3_Missense_Mutation_p.G1780E|CSMD3_uc003ynt.3_Missense_Mutation_p.G2538E|CSMD3_uc011lhx.2_Missense_Mutation_p.G2474E|CSMD3_uc003ynw.1_Missense_Mutation_p.G289E	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	2578	Sushi 14.					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						GATAATATATCCATGAGGTGG	0.408000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				35			10		0	0	0.008291	0	0
LRRFIP2	9209	broad.mit.edu	37	3	37136389	37136389	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr3:37136389C>T	uc003cgp.2	-	17	1352	c.929G>A	c.(928-930)cGa>cAa	p.R310Q	LRRFIP2_uc011ayf.1_Missense_Mutation_p.R150Q|LRRFIP2_uc003cgs.3_Missense_Mutation_p.R78Q|LRRFIP2_uc003cgt.3_Missense_Mutation_p.R78Q	NM_006309	NP_006300	Q9Y608	LRRF2_HUMAN	Homo sapiens leucine rich repeat (in FLII) interacting protein 2 (LRRFIP2), transcript variant 1, mRNA.	310	DVL3-binding.|Ser-rich.				Wnt receptor signaling pathway		LRR domain binding	p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						GGCAGAATTTCGAGATGAAGG	0.433000														51			13		0	0	0.004007	0	0
DNAH8	1769	broad.mit.edu	37	6	38879243	38879243	+	Splice_Site	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr6:38879243G>A	uc021yzh.1	+	66	9850	c.9741_splice	c.e66-1	p.R3247_splice	DNAH8_uc003ooe.2_Splice_Site_p.R3030_splice|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						TCTGCTTTCAGATACCGCCGA	0.373000														56			26		0	0	0.007291	0	0
CLVS2	134829	broad.mit.edu	37	6	123369783	123369783	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr6:123369783G>A	uc003pzi.1	+	3	1450	c.581G>A	c.(580-582)cGa>cAa	p.R194Q		NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN	Homo sapiens clavesin 2 (CLVS2), mRNA.	194	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						TTCCCAGCGCGATTTGGAGGA	0.388000														78			32		0	0	0.003271	0	0
IL27RA	9466	broad.mit.edu	37	19	14150436	14150436	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr19:14150436A>G	uc002mxx.3	+	2	758	c.335A>G	c.(334-336)cAg>cGg	p.Q112R		NM_004843	NP_004834	Q6UWB1	I27RA_HUMAN	Homo sapiens interleukin 27 receptor, alpha (IL27RA), mRNA.	112					cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						AAGGCAGGCCAGCCTCTCTGG	0.627000														37			13		0	0	0.002450	0	0
TEP1	7011	broad.mit.edu	37	14	20851800	20851800	+	Silent	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr14:20851800G>A	uc001vxe.3	-	25	3754	c.3714C>T	c.(3712-3714)agC>agT	p.S1238S	TEP1_uc010ahk.3_Silent_p.S588S|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Silent_p.S1130S|TEP1_uc010tlh.1_5'Flank	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	1238	NACHT.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CCCACACCAGGCTTCTGTACA	0.572000														22			6		0	0	0.003080	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106810345	106810345	+	Silent	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr11:106810345C>T	uc009yxn.1	-	3	1437	c.1047G>A	c.(1045-1047)caG>caA	p.Q349Q	GUCY1A2_uc001pjg.1_Silent_p.Q349Q|GUCY1A2_uc010rvo.1_Silent_p.Q349Q	NM_000855	NP_000846	P33402	GCYA2_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 2 (GUCY1A2), transcript variant 2, mRNA.	349					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		CACATCGAAGCTGCTTCCTTA	0.473000														15			8		0	0	0.003080	0	0
TTN	7273	broad.mit.edu	37	2	179594171	179594171	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr2:179594171C>T	uc021vsy.1	-	60	15205	c.14980G>A	c.(14980-14982)Gaa>Aaa	p.E4994K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E1655K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5921	Ig-like 30.						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)			CTTCGAATTTCCCTGTTATTC	0.458000														55			29		0	0	0.001786	0	0
CEACAM18	729767	broad.mit.edu	37	19	51986515	51986515	+	Silent	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr19:51986515C>T	uc002pwv.1	+	4	1101	c.1101C>T	c.(1099-1101)atC>atT	p.I367I		NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 18 (CEACAM18), mRNA.	367	Ig-like C2-type.					integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CACAGCTGATCATGTACATGG	0.577000														35			16		0	0	0.003163	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94654429	94654429	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr1:94654429C>T	uc001dqj.4	-	14	2014	c.1645G>A	c.(1645-1647)Gaa>Aaa	p.E549K	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dqk.3_Missense_Mutation_p.E115K	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	549					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)		GATCTAGATTCGCTGCTCCCT	0.358000														63			24		0	0	0.008361	0	0
HELZ	9931	broad.mit.edu	37	17	65105774	65105774	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr17:65105774C>T	uc010wqk.2	-	28	4137	c.3950G>A	c.(3949-3951)aGa>aAa	p.R1317K	HELZ_uc002jfv.4_Non-coding_Transcript|HELZ_uc002jfx.4_Missense_Mutation_p.R1316K|HELZ_uc010der.3_5'UTR	NM_014877	NP_055692			Homo sapiens helicase with zinc finger (HELZ), mRNA.											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TTCAGGACTTCTGTTCTGTGG	0.408000														57			24		0	0	0.008361	0	0
OR5P2	120065	broad.mit.edu	37	11	7818403	7818403	+	Silent	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr11:7818403G>A	uc001mfp.1	-	0	87	c.87C>T	c.(85-87)atC>atT	p.I29I		NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 2 (OR5P2), mRNA.	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCATGAAGAGGATGACTCGAA	0.433000														34			10		0	0	0.000978	0	0
DCAF4	26094	broad.mit.edu	37	14	73409707	73409707	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr14:73409707C>T	uc001xng.3	+	5	657	c.437C>T	c.(436-438)gCc>gTc	p.A146V	DCAF4_uc010ttr.2_Missense_Mutation_p.A124V|DCAF4_uc001xnj.3_Missense_Mutation_p.A146V|DCAF4_uc001xnh.3_Missense_Mutation_p.A46V|DCAF4_uc010tts.2_Intron|DCAF4_uc010ttt.2_5'UTR|DCAF4_uc001xni.3_Intron|DCAF4_uc001xnk.3_Missense_Mutation_p.A146V	NM_015604	NP_851937	Q8WV16	DCAF4_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4 (DCAF4), transcript variant 1, mRNA.	146						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						TGCAGTTTAGCCCACGAGCTG	0.567000														23			6		0	0	0.001168	0	0
MAB21L1	4081	broad.mit.edu	37	13	36050146	36050146	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr13:36050146C>T	uc001uvc.3	-	1	712	c.130G>A	c.(130-132)Gaa>Aaa	p.E44K	NBEA_uc021ric.1_Intron|NBEA_uc021rid.1_Intron|NBEA_uc010abi.3_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.2_5'Flank|NBEA_uc010teg.1_5'Flank	NM_005584	NP_005575	Q13394	MB211_HUMAN	Homo sapiens mab-21-like 1 (C. elegans) (MAB21L1), mRNA.	44					anatomical structure morphogenesis	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		ACTTCCACTTCCTTCAGTACG	0.502000														71			18		0	0	0.008871	0	0
TCRA	0	broad.mit.edu	37	14	22538933	22538933	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr14:22538933G>A	uc001wcy.3	+	0	28	c.17G>A	c.(16-18)gGa>gAa	p.G6E	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpq.1_5'Flank					Homo sapiens mRNA for T cell receptor alpha variable 22, partial cds, clone: SEB 209.																		AAAATGCCCGGAGCAAGAAGG	0.512000														7			3		0	0	0.004672	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54911318	54911318	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr12:54911318C>T	uc001sgc.4	+	12	1175	c.1096_splice	c.e12-1	p.A366_splice	NCKAP1L_uc010sox.2_Splice_Site|NCKAP1L_uc010soy.2_Splice_Site_p.A316_splice	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	366					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CCTCCATAGGCTCTTTTTGCT	0.413000														36			8		0	0	0.003080	0	0
SCAND3	114821	broad.mit.edu	37	6	28554098	28554098	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr6:28554098C>T	uc003nlo.3	-	0	1015	c.397G>A	c.(397-399)Gag>Aag	p.E133K	AK056211_uc003nlp.1_5'Flank	NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	133	SCAN box.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TCATCAAGCTCCCTCTCCAAA	0.507000														170			47		0	0	0.003610	0	0
TMEM119	338773	broad.mit.edu	37	12	108985911	108985911	+	Silent	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr12:108985911G>A	uc001tng.3	-	1	412	c.249C>T	c.(247-249)ttC>ttT	p.F83F	TMEM119_uc021rdl.1_Silent_p.F83F	NM_181724	NP_859075	Q4V9L6	TM119_HUMAN	Homo sapiens transmembrane protein 119 (TMEM119), mRNA.	83						integral to membrane		p.F83F(2)		large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						TCCCATCCAGGAAGTTGGTGG	0.652000														15			9		0	0	0.008291	0	0
MUC16	94025	broad.mit.edu	37	19	9085550	9085550	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr19:9085550C>T	uc002mkp.3	-	0	6469	c.6265G>A	c.(6265-6267)Gaa>Aaa	p.E2089K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2089	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						AGTGGAAATTCAGTCGTAGTT	0.473000														135			28		0	0	0.006320	0	0
ATXN2	6311	broad.mit.edu	37	12	111951235	111951235	+	Missense_Mutation	SNP	G	A	A	rs145598979		TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr12:111951235G>A	uc001tsj.3	-	10	2126	c.1964C>T	c.(1963-1965)cCc>cTc	p.P655L	ATXN2_uc001tsh.3_Missense_Mutation_p.P390L|ATXN2_uc001tsi.3_Missense_Mutation_p.P366L|ATXN2_uc001tsk.3_Non-coding_Transcript|ATXN2_uc001tsm.1_Missense_Mutation_p.P390L	NM_002973	NP_002964	Q99700	ATX2_HUMAN	Homo sapiens ataxin 2 (ATXN2), mRNA.	655	Pro-rich.				RNA metabolic process|RNA transport|cell death|cytoplasmic mRNA processing body assembly|regulation of translation|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	RNA binding|protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						TGCTTCACTGGGTGGGTTGTG	0.547000														32			12		0	0	0.001855	0	0
HSD3B7	80270	broad.mit.edu	37	16	30999285	30999285	+	Silent	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr16:30999285C>T	uc002eaf.2	+	6	997	c.891C>T	c.(889-891)ttC>ttT	p.F297F	HSD3B7_uc010cac.2_3'UTR|HSD3B7_uc002eag.2_3'UTR|HSD3B7_uc002eah.2_Silent_p.F297F	NM_025193	NP_079469	Q9H2F3	3BHS7_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 (HSD3B7), transcript variant 1, mRNA.	297					bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TGCTGGTGTTCCTGGCTGCCC	0.657000														65			22		0	0	0.001882	0	0
LRRC39	127495	broad.mit.edu	37	1	100620727	100620727	+	Missense_Mutation	SNP	C	T	T	rs142389687	byFrequency	TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr1:100620727C>T	uc001dsw.1	-	7	891	c.692G>A	c.(691-693)cGa>cAa	p.R231Q	LRRC39_uc001dsx.1_Missense_Mutation_p.R231Q|LRRC39_uc001dsy.1_Missense_Mutation_p.R231Q|LRRC39_uc001dsz.1_Missense_Mutation_p.R231Q	NM_144620	NP_653221	Q96DD0	LRC39_HUMAN	Homo sapiens leucine rich repeat containing 39 (LRRC39), transcript variant 3, mRNA.	231										endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	13		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		TATTTCATTTCGTTGCAGCCA	0.308000														28			11		0	0	0.001368	0	0
SLC5A5	6528	broad.mit.edu	37	19	17985012	17985012	+	Splice_Site	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr19:17985012G>A	uc002nhr.4	+	2	770	c.423_splice	c.e2+1	p.T141_splice		NM_000453	NP_000444	Q92911	SC5A5_HUMAN	Homo sapiens solute carrier family 5 (sodium iodide symporter), member 5 (SLC5A5), mRNA.	141					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TTGTAGCCACGGTGAGTGGCC	0.682000														16			5		0	0	0.001168	0	0
CDH6	1004	broad.mit.edu	37	5	31323026	31323026	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr5:31323026G>A	uc003jhe.2	+	11	2344	c.1984G>A	c.(1984-1986)Gaa>Aaa	p.E662K		NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	662					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.D661N(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TTACAACGACGAAGGTGGTGG	0.493000														50			12		0	0	0.002450	0	0
GPR98	84059	broad.mit.edu	37	5	90073776	90073776	+	Silent	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr5:90073776C>T	uc003kju.3	+	61	12678	c.12582C>T	c.(12580-12582)ttC>ttT	p.F4194F	GPR98_uc003kjt.3_Silent_p.F1900F	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	4194					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)		GGAGGATATTCCCTCCTTCCG	0.433000														12			6		0	0	0.001984	0	0
STC2	8614	broad.mit.edu	37	5	172750340	172750340	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr5:172750340C>T	uc003mco.1	-	2	1698	c.388G>A	c.(388-390)Gaa>Aaa	p.E130K	STC2_uc003mcn.1_Missense_Mutation_p.E45K	NM_003714	NP_003705	O76061	STC2_HUMAN	Homo sapiens stanniocalcin 2 (STC2), mRNA.	130					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)			GACACCATTTCCCTGATGGCC	0.567000														16			6		0	0	0.001984	0	0
TROAP	10024	broad.mit.edu	37	12	49724790	49724790	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr12:49724790C>T	uc009zlh.3	+	12	2329	c.2162C>T	c.(2161-2163)aCc>aTc	p.T721I	TROAP_uc001rtx.4_Intron	NM_005480	NP_005471	Q12815	TROAP_HUMAN	Homo sapiens trophinin associated protein (tastin) (TROAP), transcript variant 1, mRNA.	738					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						GAGCTGCACACCTGCCCTGCC	0.617000														25			6		0	0	0.001168	0	0
APC	324	broad.mit.edu	37	5	112178816	112178816	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr5:112178816C>T	uc003kpz.4	+	16	7718	c.7525C>T	c.(7525-7527)Cct>Tct	p.P2509S	APC_uc011cvt.2_Missense_Mutation_p.P2491S|APC_uc003kpy.4_Missense_Mutation_p.P2509S|APC_uc010jbz.3_Missense_Mutation_p.P2226S|APC_uc010jca.3_Missense_Mutation_p.P1809S	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	2509	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AAAACTCCCACCTAATCTCAG	0.458000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)				45			20		0	0	0.008871	0	0
CACNA1E	777	broad.mit.edu	37	1	181687295	181687295	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr1:181687295G>A	uc009wxt.3	+	11	1825	c.1630G>A	c.(1630-1632)Gat>Aat	p.D544N	CACNA1E_uc001gow.3_Missense_Mutation_p.D544N|CACNA1E_uc009wxs.3_Missense_Mutation_p.D544N	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	544					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CAACTGCTTTGATTTTGGGGT	0.483000														14			8		0	0	0.003080	0	0
INSRR	3645	broad.mit.edu	37	1	156816380	156816380	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr1:156816380T>C	uc010pht.2	-	7	2040	c.1741A>G	c.(1741-1743)Acc>Gcc	p.T581A	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	581	Fibronectin type-III 1.				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	p.T581N(1)		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)					TCCTCAGTGGTTAGCGTGATG	0.607000														23			8		0	0	0.004482	0	0
HYDIN	54768	broad.mit.edu	37	16	71065807	71065807	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr16:71065807G>A	uc002ezr.3	-	18	2694	c.2543C>T	c.(2542-2544)tCc>tTc	p.S848F	HYDIN_uc010cfz.2_Missense_Mutation_p.S593F|HYDIN_uc021tkq.1_Missense_Mutation_p.S848F|HYDIN_uc010vmc.2_Missense_Mutation_p.S865F|HYDIN_uc010vmd.2_Missense_Mutation_p.S875F	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	848										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)				CGTCCAAAGGGATTTTTTGTG	0.438000														27			4		0	0	0.003080	0	0
RNF113B	140432	broad.mit.edu	37	13	98829441	98829441	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr13:98829441A>G	uc001vnk.3	-	0	81	c.50T>C	c.(49-51)gTa>gCa	p.V17A	FARP1_uc001vnh.3_Intron|FARP1_uc001vni.3_Intron|FARP1_uc001vnj.3_Intron	NM_178861	NP_849192	Q8IZP6	R113B_HUMAN	Homo sapiens ring finger protein 113B (RNF113B), mRNA.	17							nucleic acid binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			GAAGGTGCATACCTGGTCTGC	0.652000														28			5		0	0	0.001168	0	0
DMBT1	1755	broad.mit.edu	37	10	124389503	124389503	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr10:124389503A>T	uc001lgk.1	+	43	5535	c.5429A>T	c.(5428-5430)aAt>aTt	p.N1810I	DMBT1_uc001lgl.1_Missense_Mutation_p.N1800I|DMBT1_uc001lgm.1_Missense_Mutation_p.N1182I|DMBT1_uc021qaf.1_Missense_Mutation_p.N1810I|DMBT1_uc021qag.1_Missense_Mutation_p.N1800I|DMBT1_uc021qah.1_Missense_Mutation_p.N1182I|DMBT1_uc009xzz.1_Missense_Mutation_p.N1810I|DMBT1_uc010qtx.1_Missense_Mutation_p.N530I|DMBT1_uc009yab.1_Missense_Mutation_p.N513I|DMBT1_uc009yac.1_Missense_Mutation_p.N104I	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1810	CUB 1.				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)				GGCTTCAGTAATCTGAAGTAA	0.483000														60			24		0	0	0.003330	0	0
RGPD3	653489	broad.mit.edu	37	2	107032347	107032347	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr2:107032347C>T	uc010ywi.1	-	20	5080	c.5023G>A	c.(5023-5025)Gaa>Aaa	p.E1675K		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	1675					intracellular transport		binding	p.R1674L(1)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						GCCTCTATTTCCCGAAGCAGG	0.438000														118			40		0	0	0.003610	0	0
MPP6	51678	broad.mit.edu	37	7	24690159	24690159	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr7:24690159G>A	uc003swx.3	+	5	778	c.479G>A	c.(478-480)gGg>gAg	p.G160E	MPP6_uc003swy.3_Missense_Mutation_p.G160E	NM_016447	NP_057531	Q9NZW5	MPP6_HUMAN	Homo sapiens membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) (MPP6), mRNA.	160	PDZ.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						ATCCTCCATGGGGGAATGATA	0.353000														37			22		0	0	0.003330	0	0
PRELID1	27166	broad.mit.edu	37	5	176731688	176731688	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr5:176731688C>T	uc003mfx.3	+	1	307	c.155C>T	c.(154-156)tCc>tTc	p.S52F	RAB24_uc003mfv.3_5'Flank|RAB24_uc003mfw.3_5'Flank|PRELID1_uc021yiq.1_Missense_Mutation_p.S52F	NM_013237	NP_037369	Q9Y255	PRLD1_HUMAN	Homo sapiens PRELI domain containing 1 (PRELID1), nuclear gene encoding mitochondrial protein, mRNA.	52	PRELI/MSF1.				immune response|multicellular organismal development	mitochondrion|nucleus				endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	7	all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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)			AAACTGCTGTCCCGGCGACTC	0.562000														14			6		0	0	0.001984	0	0
BOD1L1	259282	broad.mit.edu	37	4	13582680	13582681	+	Splice_Site	INS	-	A	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr4:13582680_13582681insA	uc003gmz.1	-	21	8786	c.8669_splice	c.e21-1	p.K2890_splice		NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA.	2890							DNA binding										AGTCGTCTTCTAAAAAAAAAAA	0.337													---	4	---	---	2	---					
TIMD4	91937	broad.mit.edu	37	5	156378745	156378747	+	In_Frame_Del	DEL	TTG	-	-			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr5:156378745_156378747delTTG	uc003lwh.2	-	2	512_514	c.455_457delCAA	c.(454-459)acaagc>agc	p.T152del	TIMD4_uc010jii.2_In_Frame_Del_p.T152del	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA.	152	Thr-rich.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGGTGGGGCTTGTTGTTGTTGT	0.537													---	739	---	---	8	---					
ACTL6B	51412	broad.mit.edu	37	7	100245130	100245131	+	Frame_Shift_Ins	INS	-	G	G			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr7:100245130_100245131insG	uc003uvy.3	-	7	802_803	c.695_696insC	c.(694-696)ccafs	p.P232fs	ACTL6B_uc003uvz.3_Non-coding_Transcript	NM_016188	NP_057272	O94805	ACL6B_HUMAN	Homo sapiens actin-like 6B (ACTL6B), mRNA.	232					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)					TCTTCCAGTTTGGGGGGGCACC	0.609													---	118	---	---	31	---					
PMEL	6490	broad.mit.edu	37	12	56355182	56355184	+	In_Frame_Del	DEL	AGA	-	-			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr12:56355182_56355184delAGA	uc001sir.3	-	2	914_916	c.251_253delTCT	c.(250-255)ttctct>tct	p.F84del	PMEL_uc001siq.3_In_Frame_Del_p.F84del|PMEL_uc010spx.2_Intron|PMEL_uc001sip.3_In_Frame_Del_p.F84del	NM_006928	NP_008859	P40967	PMEL_HUMAN	Homo sapiens premelanosome protein (PMEL), transcript variant 3, mRNA.	84					melanin biosynthetic process|melanosome organization	Golgi apparatus|endoplasmic reticulum membrane|extracellular region|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AAGGCAATAGAGAAGGAGGCATT	0.483													---	56	---	---	15	---					
YY1	7528	broad.mit.edu	37	14	100705788	100705790	+	In_Frame_Del	DEL	CCA	-	-	rs76675246		TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr14:100705788_100705790delCCA	uc001ygy.1	+	0	687_689	c.207_209delCCA	c.(205-210)ggccac>ggc	p.H80del		NM_003403	NP_003394	P25490	TYY1_HUMAN	Homo sapiens YY1 transcription factor (YY1), mRNA.	80	Poly-His.				cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis	Ino80 complex|nuclear matrix|plasma membrane	four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				gGCACGCCGGccaccaccaccac	0.724													---	6	---	---	3	---					
